Mutagenetix > Incidental Mutation

Incidental Mutation 'R1511:Col12a1'

168329

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

039558-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R1511 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

79506273-79626113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79606834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 530 (I530V)

Ref Sequence

ENSEMBL: ENSMUSP00000112604 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071750] [ENSMUST00000121227]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000071750
AA Change: I530V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: I530V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	25	103	2.29e-10	SMART
low complexity region	114	129	N/A	INTRINSIC
VWA	138	317	4e-63	SMART
FN3	334	413	1.47e-8	SMART
VWA	438	617	2.41e-57	SMART
FN3	632	710	1.62e-10	SMART
FN3	723	801	2.91e-12	SMART
FN3	814	892	6.05e-10	SMART
FN3	905	984	2.74e-8	SMART
FN3	995	1074	1.24e-6	SMART
FN3	1087	1166	5.78e-7	SMART
VWA	1197	1376	2.02e-59	SMART
FN3	1385	1463	1.13e-9	SMART
FN3	1474	1554	1.07e-10	SMART
FN3	1566	1643	3.73e-10	SMART
FN3	1655	1734	2.94e-8	SMART
FN3	1755	1834	1.54e-11	SMART
FN3	1846	1924	1.45e-7	SMART
FN3	1936	2015	1.47e-8	SMART
FN3	2027	2106	1.21e-9	SMART
FN3	2118	2195	2.14e-10	SMART
FN3	2206	2285	3.85e-3	SMART
low complexity region	2292	2314	N/A	INTRINSIC
VWA	2323	2503	2.61e-53	SMART
TSPN	2522	2714	1.13e-76	SMART
Pfam:Collagen	2747	2804	1.7e-8	PFAM
Pfam:Collagen	2802	2855	6.5e-9	PFAM
Pfam:Collagen	2844	2904	1.1e-9	PFAM
Pfam:Collagen	2939	2994	4.6e-8	PFAM
low complexity region	3011	3044	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121227
AA Change: I530V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: I530V

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
FN3	25	103	2.29e-10	SMART
low complexity region	114	129	N/A	INTRINSIC
VWA	138	317	4e-63	SMART
FN3	334	413	1.47e-8	SMART
VWA	438	617	2.41e-57	SMART
FN3	632	710	1.62e-10	SMART
FN3	723	801	2.91e-12	SMART
FN3	814	892	6.05e-10	SMART
FN3	905	984	2.74e-8	SMART
FN3	995	1074	1.24e-6	SMART
FN3	1087	1166	5.78e-7	SMART
VWA	1197	1376	2.02e-59	SMART
FN3	1385	1463	1.13e-9	SMART
FN3	1474	1554	1.07e-10	SMART
FN3	1566	1643	3.73e-10	SMART
FN3	1655	1734	2.94e-8	SMART
FN3	1755	1834	1.54e-11	SMART
FN3	1846	1924	1.45e-7	SMART
FN3	1936	2015	1.47e-8	SMART
FN3	2027	2106	1.21e-9	SMART
FN3	2118	2195	2.14e-10	SMART
FN3	2206	2285	3.85e-3	SMART
low complexity region	2292	2314	N/A	INTRINSIC
VWA	2323	2503	2.61e-53	SMART
TSPN	2522	2714	1.13e-76	SMART
Pfam:Collagen	2747	2804	4.7e-9	PFAM
Pfam:Collagen	2802	2861	2.9e-9	PFAM
Pfam:Collagen	2838	2900	7.1e-8	PFAM
Pfam:Collagen	2935	2990	1.3e-8	PFAM
low complexity region	3007	3040	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150289

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.4%
20x: 89.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	A	5: 125,592,041 (GRCm39)	N576K	probably benign	Het
Abca5	G	T	11: 110,190,804 (GRCm39)	L769M	probably damaging	Het
Abca5	T	A	11: 110,190,812 (GRCm39)	H766L	possibly damaging	Het
Acvr1c	A	G	2: 58,177,896 (GRCm39)	I191T	probably damaging	Het
Agps	A	T	2: 75,697,123 (GRCm39)	E314D	probably damaging	Het
Agxt	G	A	1: 93,063,490 (GRCm39)	G131R	probably damaging	Het
Ak8	A	G	2: 28,632,758 (GRCm39)	T326A	probably benign	Het
Aldoart2	T	A	12: 55,613,062 (GRCm39)	I329N	probably benign	Het
Apaf1	T	C	10: 90,896,047 (GRCm39)	I342V	possibly damaging	Het
Arhgap40	T	C	2: 158,369,081 (GRCm39)	S68P	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
AU022252	C	T	4: 119,085,294 (GRCm39)	R71Q	possibly damaging	Het
Baz1b	T	C	5: 135,246,636 (GRCm39)	L695P	probably damaging	Het
Baz2b	A	T	2: 59,792,368 (GRCm39)	S587T	probably benign	Het
Cep76	T	C	18: 67,758,028 (GRCm39)	M421V	probably benign	Het
Clk2	A	G	3: 89,076,010 (GRCm39)	D60G	probably damaging	Het
Clstn3	G	T	6: 124,439,128 (GRCm39)	T6K	probably damaging	Het
Cluap1	T	A	16: 3,737,422 (GRCm39)	D180E	probably benign	Het
Cpt1a	T	C	19: 3,415,788 (GRCm39)		probably benign	Het
Cr2	T	G	1: 194,837,580 (GRCm39)	K797Q	possibly damaging	Het
Crybg3	C	A	16: 59,374,475 (GRCm39)	V2260L	probably benign	Het
Csnk1a1	T	A	18: 61,718,321 (GRCm39)		probably benign	Het
Cxcr1	T	C	1: 74,231,929 (GRCm39)	D31G	probably benign	Het
Cyp2a5	G	T	7: 26,535,361 (GRCm39)	D108Y	probably damaging	Het
Dnajc1	A	G	2: 18,227,538 (GRCm39)	V376A	possibly damaging	Het
Eif4enif1	T	C	11: 3,186,278 (GRCm39)	V462A	probably benign	Het
Elmo1	A	G	13: 20,474,647 (GRCm39)	K357R	possibly damaging	Het
Eml6	T	A	11: 29,768,374 (GRCm39)	H771L	probably damaging	Het
Epb41l4a	A	G	18: 33,965,717 (GRCm39)	I370T	probably benign	Het
Esp36	A	T	17: 38,728,172 (GRCm39)	N79K	possibly damaging	Het
Fam229b	A	G	10: 38,994,915 (GRCm39)	*81Q	probably null	Het
Fat4	T	C	3: 39,037,225 (GRCm39)	Y3626H	probably damaging	Het
Fbn1	A	T	2: 125,148,205 (GRCm39)	F2681Y	probably benign	Het
Gad1-ps	A	G	10: 99,281,331 (GRCm39)		noncoding transcript	Het
Galm	C	A	17: 80,490,696 (GRCm39)	N284K	probably damaging	Het
Gtf3c2	A	T	5: 31,316,446 (GRCm39)	S735T	probably benign	Het
Hsph1	A	T	5: 149,553,848 (GRCm39)	S207T	probably benign	Het
Il33	C	T	19: 29,932,615 (GRCm39)	R159C	probably damaging	Het
Invs	A	G	4: 48,382,148 (GRCm39)	N106S	possibly damaging	Het
Kif21b	G	T	1: 136,097,062 (GRCm39)		probably null	Het
Kirrel2	A	G	7: 30,155,923 (GRCm39)	C42R	probably damaging	Het
Letm1	A	C	5: 33,909,899 (GRCm39)	C378W	probably damaging	Het
Lrrc71	T	A	3: 87,652,791 (GRCm39)	K160N	probably benign	Het
Lrrtm3	A	G	10: 63,924,804 (GRCm39)	I121T	probably damaging	Het
Lztr1	T	A	16: 17,327,534 (GRCm39)	V79E	probably damaging	Het
Mmp8	T	G	9: 7,566,279 (GRCm39)	D378E	probably damaging	Het
Mpzl3	A	G	9: 44,977,827 (GRCm39)	E145G	probably damaging	Het
Mrps2	C	T	2: 28,359,676 (GRCm39)	L178F	probably damaging	Het
Mzb1	A	G	18: 35,780,875 (GRCm39)		probably null	Het
Nckap1	T	C	2: 80,383,759 (GRCm39)	D135G	probably damaging	Het
Ndst1	A	G	18: 60,830,242 (GRCm39)	F623L	possibly damaging	Het
Nlrp5	A	T	7: 23,112,772 (GRCm39)	D143V	probably damaging	Het
Or14a260	T	C	7: 85,985,553 (GRCm39)	D17G	possibly damaging	Het
Or4a69	T	C	2: 89,312,592 (GRCm39)	M296V	probably null	Het
Or4b1d	A	G	2: 89,968,748 (GRCm39)	V245A	probably benign	Het
Or4c120	A	G	2: 89,001,281 (GRCm39)	S92P	probably damaging	Het
Or4f58	A	G	2: 111,851,749 (GRCm39)	V150A	probably benign	Het
Or52b4i	T	C	7: 102,191,332 (GRCm39)	L63P	probably damaging	Het
Or8b44	A	G	9: 38,410,114 (GRCm39)	I50V	probably benign	Het
Or8g17	T	C	9: 38,930,321 (GRCm39)	D172G	probably benign	Het
Parp14	T	G	16: 35,677,594 (GRCm39)	E791D	probably benign	Het
Pcdh8	C	T	14: 80,006,829 (GRCm39)	R578H	possibly damaging	Het
Phrf1	T	A	7: 140,839,714 (GRCm39)		probably benign	Het
Polr3b	C	A	10: 84,516,249 (GRCm39)	H626N	probably benign	Het
Ppp1r12a	A	G	10: 108,087,720 (GRCm39)	T58A	probably benign	Het
Ppp4r3b	T	A	11: 29,132,460 (GRCm39)	V33D	probably damaging	Het
Ppp5c	A	G	7: 16,743,907 (GRCm39)	Y176H	probably damaging	Het
R3hdm1	A	G	1: 128,124,742 (GRCm39)	Y343C	probably damaging	Het
Rabac1	C	T	7: 24,671,555 (GRCm39)	V122M	probably damaging	Het
Rasef	G	T	4: 73,653,985 (GRCm39)	Q561K	probably damaging	Het
Rbl1	A	G	2: 157,037,554 (GRCm39)	S198P	probably damaging	Het
Rbm12	A	T	2: 155,939,456 (GRCm39)	M272K	probably damaging	Het
Rexo1	T	G	10: 80,385,884 (GRCm39)	K391N	possibly damaging	Het
Rnf43	T	C	11: 87,622,173 (GRCm39)	S384P	probably benign	Het
Rpsa	A	T	9: 119,960,066 (GRCm39)	I210F	possibly damaging	Het
Rslcan18	A	G	13: 67,247,016 (GRCm39)	Y75H	possibly damaging	Het
Scn9a	T	A	2: 66,357,157 (GRCm39)	D1048V	probably benign	Het
Sec11a	T	C	7: 80,577,482 (GRCm39)		probably null	Het
Sidt2	A	G	9: 45,861,387 (GRCm39)	V19A	probably damaging	Het
Snx14	G	A	9: 88,280,417 (GRCm39)	Q522*	probably null	Het
Stx1b	A	G	7: 127,414,144 (GRCm39)	L74S	probably damaging	Het
Tm7sf3	A	T	6: 146,511,376 (GRCm39)	M371K	probably benign	Het
Tmem115	T	C	9: 107,412,174 (GRCm39)	V166A	probably benign	Het
Traf5	T	A	1: 191,731,912 (GRCm39)	T310S	probably benign	Het
Trdn	A	G	10: 33,342,448 (GRCm39)	K619E	probably benign	Het
Trmt10a	T	A	3: 137,857,945 (GRCm39)		probably null	Het
Txk	A	C	5: 72,865,014 (GRCm39)	I287R	probably damaging	Het
Txndc16	T	C	14: 45,389,344 (GRCm39)	D452G	probably damaging	Het
Ube2f	G	A	1: 91,190,023 (GRCm39)		probably null	Het
Ubtfl1	T	G	9: 18,321,489 (GRCm39)	I339R	probably benign	Het
Upf1	A	G	8: 70,791,155 (GRCm39)	I529T	probably damaging	Het
Vmn1r197	A	G	13: 22,512,823 (GRCm39)	D248G	possibly damaging	Het
Vmn1r5	A	T	6: 56,962,771 (GRCm39)	T149S	probably benign	Het
Vmn1r83	C	T	7: 12,055,197 (GRCm39)	V287I	possibly damaging	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vmn2r130	A	G	17: 23,282,775 (GRCm39)	T152A	probably benign	Het
Vps13b	T	C	15: 35,840,121 (GRCm39)	F2448L	probably damaging	Het
Vps13b	A	G	15: 35,841,719 (GRCm39)	N2583S	probably benign	Het
Wscd1	C	T	11: 71,679,501 (GRCm39)	P458L	probably damaging	Het
Xylt2	T	A	11: 94,561,259 (GRCm39)	D168V	probably damaging	Het
Zdhhc2	A	G	8: 40,921,013 (GRCm39)	T306A	probably benign	Het
Zfp804b	A	T	5: 6,819,771 (GRCm39)	D1097E	possibly damaging	Het
Zfp93	T	A	7: 23,975,156 (GRCm39)	C380*	probably null	Het
Zfp960	T	A	17: 17,308,518 (GRCm39)	C411S	probably damaging	Het
Zmynd15	T	A	11: 70,355,619 (GRCm39)	V430E	probably damaging	Het

Other mutations in Col12a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col12a1	APN	9	79,588,819 (GRCm39)	missense	possibly damaging	0.55
IGL00434:Col12a1	APN	9	79,560,614 (GRCm39)	missense	probably benign	0.27
IGL00465:Col12a1	APN	9	79,604,863 (GRCm39)	missense	probably damaging	1.00
IGL00568:Col12a1	APN	9	79,558,759 (GRCm39)	missense	probably damaging	1.00
IGL00576:Col12a1	APN	9	79,554,934 (GRCm39)	missense	probably damaging	1.00
IGL00580:Col12a1	APN	9	79,599,508 (GRCm39)	missense	probably benign	0.05
IGL01015:Col12a1	APN	9	79,541,023 (GRCm39)	missense	probably damaging	1.00
IGL01124:Col12a1	APN	9	79,611,129 (GRCm39)	missense	probably damaging	1.00
IGL01138:Col12a1	APN	9	79,585,335 (GRCm39)	missense	probably damaging	1.00
IGL01295:Col12a1	APN	9	79,551,208 (GRCm39)	missense	probably damaging	1.00
IGL01630:Col12a1	APN	9	79,564,648 (GRCm39)	missense	probably damaging	1.00
IGL01648:Col12a1	APN	9	79,508,451 (GRCm39)	makesense	probably null
IGL01878:Col12a1	APN	9	79,557,257 (GRCm39)	missense	possibly damaging	0.72
IGL01921:Col12a1	APN	9	79,557,299 (GRCm39)	missense	possibly damaging	0.50
IGL02064:Col12a1	APN	9	79,599,654 (GRCm39)	missense	probably benign	0.06
IGL02123:Col12a1	APN	9	79,569,740 (GRCm39)	critical splice donor site	probably null
IGL02312:Col12a1	APN	9	79,588,797 (GRCm39)	missense	probably damaging	1.00
IGL02320:Col12a1	APN	9	79,523,303 (GRCm39)	critical splice donor site	probably null
IGL02328:Col12a1	APN	9	79,589,348 (GRCm39)	missense	probably damaging	1.00
IGL02342:Col12a1	APN	9	79,557,178 (GRCm39)	splice site	probably null
IGL02355:Col12a1	APN	9	79,537,993 (GRCm39)	splice site	probably benign
IGL02362:Col12a1	APN	9	79,537,993 (GRCm39)	splice site	probably benign
IGL02396:Col12a1	APN	9	79,569,865 (GRCm39)	missense	probably benign
IGL02449:Col12a1	APN	9	79,548,751 (GRCm39)	missense	probably damaging	1.00
IGL02682:Col12a1	APN	9	79,606,623 (GRCm39)	missense	probably damaging	1.00
IGL02751:Col12a1	APN	9	79,521,141 (GRCm39)	unclassified	probably benign
IGL02801:Col12a1	APN	9	79,515,696 (GRCm39)	splice site	probably null
IGL03001:Col12a1	APN	9	79,540,955 (GRCm39)	missense	probably damaging	1.00
IGL03027:Col12a1	APN	9	79,548,833 (GRCm39)	missense	probably benign	0.40
IGL03090:Col12a1	APN	9	79,585,652 (GRCm39)	missense	probably damaging	1.00
IGL03115:Col12a1	APN	9	79,588,719 (GRCm39)	missense	probably damaging	1.00
IGL03220:Col12a1	APN	9	79,606,765 (GRCm39)	missense	probably damaging	1.00
IGL03240:Col12a1	APN	9	79,585,665 (GRCm39)	splice site	probably null
IGL03348:Col12a1	APN	9	79,600,712 (GRCm39)	missense	possibly damaging	0.88
airship	UTSW	9	79,613,619 (GRCm39)	missense	possibly damaging	0.65
dirigible	UTSW	9	79,611,111 (GRCm39)	missense	possibly damaging	0.73
Feast	UTSW	9	79,607,544 (GRCm39)	missense	probably benign	0.00
hardly	UTSW	9	79,607,632 (GRCm39)	nonsense	probably null
hearty	UTSW	9	79,551,248 (GRCm39)	missense	probably damaging	1.00
Hefty	UTSW	9	79,569,736 (GRCm39)	splice site	probably benign
P0045:Col12a1	UTSW	9	79,554,893 (GRCm39)	missense	probably damaging	0.99
PIT4260001:Col12a1	UTSW	9	79,558,662 (GRCm39)	critical splice donor site	probably null
PIT4280001:Col12a1	UTSW	9	79,585,387 (GRCm39)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,558,667 (GRCm39)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,558,667 (GRCm39)	missense	probably damaging	1.00
R0240:Col12a1	UTSW	9	79,559,315 (GRCm39)	missense	probably benign	0.02
R0276:Col12a1	UTSW	9	79,538,023 (GRCm39)	nonsense	probably null
R0309:Col12a1	UTSW	9	79,507,293 (GRCm39)	splice site	probably null
R0336:Col12a1	UTSW	9	79,609,627 (GRCm39)	missense	probably damaging	0.98
R0376:Col12a1	UTSW	9	79,600,776 (GRCm39)	missense	probably benign	0.10
R0413:Col12a1	UTSW	9	79,606,642 (GRCm39)	missense	probably damaging	0.99
R0504:Col12a1	UTSW	9	79,588,750 (GRCm39)	missense	possibly damaging	0.90
R0542:Col12a1	UTSW	9	79,512,610 (GRCm39)	critical splice donor site	probably null
R0610:Col12a1	UTSW	9	79,615,130 (GRCm39)	missense	probably benign
R0631:Col12a1	UTSW	9	79,610,658 (GRCm39)	missense	probably damaging	1.00
R0637:Col12a1	UTSW	9	79,564,017 (GRCm39)	missense	probably benign	0.00
R0667:Col12a1	UTSW	9	79,535,744 (GRCm39)	missense	probably damaging	1.00
R0711:Col12a1	UTSW	9	79,559,317 (GRCm39)	missense	probably damaging	1.00
R0717:Col12a1	UTSW	9	79,519,701 (GRCm39)	missense	probably damaging	1.00
R0762:Col12a1	UTSW	9	79,588,656 (GRCm39)	splice site	probably benign
R0787:Col12a1	UTSW	9	79,545,767 (GRCm39)	missense	probably damaging	0.99
R0890:Col12a1	UTSW	9	79,607,684 (GRCm39)	missense	probably damaging	0.97
R0900:Col12a1	UTSW	9	79,591,535 (GRCm39)	missense	possibly damaging	0.91
R1109:Col12a1	UTSW	9	79,607,005 (GRCm39)	missense	probably damaging	1.00
R1264:Col12a1	UTSW	9	79,527,371 (GRCm39)	missense	probably benign	0.09
R1321:Col12a1	UTSW	9	79,524,991 (GRCm39)	nonsense	probably null
R1344:Col12a1	UTSW	9	79,606,837 (GRCm39)	nonsense	probably null
R1387:Col12a1	UTSW	9	79,588,657 (GRCm39)	splice site	probably benign
R1523:Col12a1	UTSW	9	79,568,278 (GRCm39)	missense	probably benign	0.01
R1526:Col12a1	UTSW	9	79,564,080 (GRCm39)	missense	probably benign	0.44
R1564:Col12a1	UTSW	9	79,521,122 (GRCm39)	missense	probably damaging	1.00
R1595:Col12a1	UTSW	9	79,509,536 (GRCm39)	missense	probably damaging	1.00
R1603:Col12a1	UTSW	9	79,520,244 (GRCm39)	missense	probably damaging	1.00
R1673:Col12a1	UTSW	9	79,600,820 (GRCm39)	missense	probably benign	0.00
R1730:Col12a1	UTSW	9	79,535,660 (GRCm39)	missense	possibly damaging	0.93
R1737:Col12a1	UTSW	9	79,610,733 (GRCm39)	missense	probably damaging	1.00
R1739:Col12a1	UTSW	9	79,540,750 (GRCm39)	missense	probably damaging	0.98
R1748:Col12a1	UTSW	9	79,580,279 (GRCm39)	missense	probably benign	0.01
R1778:Col12a1	UTSW	9	79,511,867 (GRCm39)	splice site	probably benign
R1845:Col12a1	UTSW	9	79,604,823 (GRCm39)	missense	probably benign	0.09
R1864:Col12a1	UTSW	9	79,534,385 (GRCm39)	splice site	probably null
R1876:Col12a1	UTSW	9	79,585,563 (GRCm39)	nonsense	probably null
R1934:Col12a1	UTSW	9	79,511,804 (GRCm39)	nonsense	probably null
R1942:Col12a1	UTSW	9	79,542,748 (GRCm39)	missense	probably damaging	1.00
R1950:Col12a1	UTSW	9	79,537,831 (GRCm39)	missense	possibly damaging	0.62
R2027:Col12a1	UTSW	9	79,553,075 (GRCm39)	critical splice acceptor site	probably null
R2061:Col12a1	UTSW	9	79,524,987 (GRCm39)	missense	possibly damaging	0.88
R2064:Col12a1	UTSW	9	79,569,736 (GRCm39)	splice site	probably benign
R2070:Col12a1	UTSW	9	79,554,978 (GRCm39)	missense	probably benign	0.00
R2112:Col12a1	UTSW	9	79,551,181 (GRCm39)	missense	possibly damaging	0.93
R2209:Col12a1	UTSW	9	79,599,634 (GRCm39)	missense	possibly damaging	0.83
R2275:Col12a1	UTSW	9	79,542,709 (GRCm39)	missense	probably damaging	0.99
R2330:Col12a1	UTSW	9	79,540,939 (GRCm39)	missense	probably damaging	0.99
R2373:Col12a1	UTSW	9	79,564,095 (GRCm39)	missense	probably benign	0.03
R2425:Col12a1	UTSW	9	79,585,648 (GRCm39)	missense	probably damaging	1.00
R2428:Col12a1	UTSW	9	79,509,533 (GRCm39)	missense	probably benign	0.30
R2437:Col12a1	UTSW	9	79,599,501 (GRCm39)	missense	probably damaging	0.97
R2831:Col12a1	UTSW	9	79,604,683 (GRCm39)	missense	probably null	0.99
R2851:Col12a1	UTSW	9	79,585,614 (GRCm39)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2874:Col12a1	UTSW	9	79,606,831 (GRCm39)	missense	probably damaging	1.00
R2904:Col12a1	UTSW	9	79,559,307 (GRCm39)	missense	probably damaging	1.00
R2905:Col12a1	UTSW	9	79,559,307 (GRCm39)	missense	probably damaging	1.00
R2991:Col12a1	UTSW	9	79,607,547 (GRCm39)	missense	probably damaging	1.00
R3402:Col12a1	UTSW	9	79,551,229 (GRCm39)	missense	probably damaging	1.00
R3429:Col12a1	UTSW	9	79,587,593 (GRCm39)	missense	probably benign
R3430:Col12a1	UTSW	9	79,587,593 (GRCm39)	missense	probably benign
R3547:Col12a1	UTSW	9	79,540,698 (GRCm39)	missense	probably damaging	1.00
R3789:Col12a1	UTSW	9	79,547,005 (GRCm39)	missense	possibly damaging	0.96
R4091:Col12a1	UTSW	9	79,609,646 (GRCm39)	missense	probably damaging	0.99
R4328:Col12a1	UTSW	9	79,607,671 (GRCm39)	missense	possibly damaging	0.91
R4382:Col12a1	UTSW	9	79,538,023 (GRCm39)	nonsense	probably null
R4392:Col12a1	UTSW	9	79,569,770 (GRCm39)	missense	probably damaging	1.00
R4405:Col12a1	UTSW	9	79,547,247 (GRCm39)	critical splice donor site	probably null
R4465:Col12a1	UTSW	9	79,580,192 (GRCm39)	missense	possibly damaging	0.62
R4521:Col12a1	UTSW	9	79,540,639 (GRCm39)	missense	probably benign	0.00
R4612:Col12a1	UTSW	9	79,523,339 (GRCm39)	missense	probably damaging	0.99
R4613:Col12a1	UTSW	9	79,554,883 (GRCm39)	missense	probably benign	0.03
R4649:Col12a1	UTSW	9	79,547,076 (GRCm39)	missense	probably damaging	1.00
R4651:Col12a1	UTSW	9	79,520,228 (GRCm39)	missense	probably damaging	1.00
R4652:Col12a1	UTSW	9	79,520,228 (GRCm39)	missense	probably damaging	1.00
R4738:Col12a1	UTSW	9	79,606,564 (GRCm39)	missense	probably damaging	1.00
R4745:Col12a1	UTSW	9	79,559,368 (GRCm39)	splice site	probably null
R4761:Col12a1	UTSW	9	79,564,592 (GRCm39)	missense	probably benign	0.34
R4784:Col12a1	UTSW	9	79,585,776 (GRCm39)	missense	possibly damaging	0.50
R4785:Col12a1	UTSW	9	79,585,776 (GRCm39)	missense	possibly damaging	0.50
R4809:Col12a1	UTSW	9	79,600,849 (GRCm39)	missense	probably benign	0.10
R4821:Col12a1	UTSW	9	79,622,622 (GRCm39)	intron	probably benign
R4925:Col12a1	UTSW	9	79,582,077 (GRCm39)	missense	probably damaging	1.00
R4938:Col12a1	UTSW	9	79,607,632 (GRCm39)	nonsense	probably null
R5034:Col12a1	UTSW	9	79,564,649 (GRCm39)	missense	probably damaging	1.00
R5133:Col12a1	UTSW	9	79,512,456 (GRCm39)	missense	probably damaging	0.99
R5138:Col12a1	UTSW	9	79,551,248 (GRCm39)	missense	probably damaging	1.00
R5145:Col12a1	UTSW	9	79,613,582 (GRCm39)	missense	probably benign	0.00
R5152:Col12a1	UTSW	9	79,564,030 (GRCm39)	missense	probably damaging	1.00
R5237:Col12a1	UTSW	9	79,607,544 (GRCm39)	missense	probably benign	0.00
R5268:Col12a1	UTSW	9	79,585,329 (GRCm39)	missense	probably damaging	0.99
R5328:Col12a1	UTSW	9	79,527,342 (GRCm39)	missense	probably damaging	0.96
R5372:Col12a1	UTSW	9	79,585,648 (GRCm39)	missense	probably damaging	1.00
R5440:Col12a1	UTSW	9	79,521,645 (GRCm39)	missense	probably benign	0.07
R5496:Col12a1	UTSW	9	79,509,467 (GRCm39)	splice site	probably benign
R5537:Col12a1	UTSW	9	79,606,872 (GRCm39)	missense	probably damaging	1.00
R5596:Col12a1	UTSW	9	79,611,041 (GRCm39)	missense	probably damaging	1.00
R5677:Col12a1	UTSW	9	79,606,603 (GRCm39)	missense	probably damaging	1.00
R5715:Col12a1	UTSW	9	79,523,347 (GRCm39)	nonsense	probably null
R5796:Col12a1	UTSW	9	79,611,111 (GRCm39)	missense	possibly damaging	0.73
R5829:Col12a1	UTSW	9	79,540,955 (GRCm39)	missense	probably damaging	1.00
R5865:Col12a1	UTSW	9	79,511,760 (GRCm39)	missense	probably benign	0.00
R5919:Col12a1	UTSW	9	79,509,580 (GRCm39)	missense	probably damaging	0.99
R5974:Col12a1	UTSW	9	79,589,409 (GRCm39)	missense	probably damaging	0.99
R5981:Col12a1	UTSW	9	79,585,788 (GRCm39)	missense	probably damaging	0.99
R5982:Col12a1	UTSW	9	79,537,842 (GRCm39)	missense	probably damaging	1.00
R6027:Col12a1	UTSW	9	79,563,860 (GRCm39)	critical splice donor site	probably null
R6090:Col12a1	UTSW	9	79,599,675 (GRCm39)	missense	probably damaging	1.00
R6293:Col12a1	UTSW	9	79,521,640 (GRCm39)	missense	probably benign	0.00
R6393:Col12a1	UTSW	9	79,562,767 (GRCm39)	missense	probably damaging	0.99
R6457:Col12a1	UTSW	9	79,552,973 (GRCm39)	missense	probably damaging	1.00
R6505:Col12a1	UTSW	9	79,554,887 (GRCm39)	missense	probably damaging	0.98
R6508:Col12a1	UTSW	9	79,557,231 (GRCm39)	missense	probably damaging	1.00
R6620:Col12a1	UTSW	9	79,527,331 (GRCm39)	missense	probably damaging	0.98
R6718:Col12a1	UTSW	9	79,606,887 (GRCm39)	missense	probably damaging	1.00
R6752:Col12a1	UTSW	9	79,540,706 (GRCm39)	missense	possibly damaging	0.72
R6774:Col12a1	UTSW	9	79,613,619 (GRCm39)	missense	possibly damaging	0.65
R6872:Col12a1	UTSW	9	79,584,516 (GRCm39)	missense	probably damaging	1.00
R6884:Col12a1	UTSW	9	79,547,091 (GRCm39)	missense	possibly damaging	0.92
R6935:Col12a1	UTSW	9	79,607,782 (GRCm39)	missense	possibly damaging	0.76
R7198:Col12a1	UTSW	9	79,557,314 (GRCm39)	missense	possibly damaging	0.56
R7296:Col12a1	UTSW	9	79,589,348 (GRCm39)	missense	probably damaging	1.00
R7365:Col12a1	UTSW	9	79,613,642 (GRCm39)	missense	probably damaging	0.99
R7466:Col12a1	UTSW	9	79,562,689 (GRCm39)	missense	possibly damaging	0.95
R7516:Col12a1	UTSW	9	79,520,192 (GRCm39)	splice site	probably null
R7584:Col12a1	UTSW	9	79,610,578 (GRCm39)	critical splice donor site	probably null
R7624:Col12a1	UTSW	9	79,553,076 (GRCm39)	splice site	probably null
R7670:Col12a1	UTSW	9	79,538,925 (GRCm39)	missense	probably damaging	1.00
R7678:Col12a1	UTSW	9	79,558,768 (GRCm39)	missense	probably damaging	0.99
R7702:Col12a1	UTSW	9	79,588,803 (GRCm39)	missense	probably damaging	1.00
R7796:Col12a1	UTSW	9	79,585,833 (GRCm39)	missense	possibly damaging	0.88
R7902:Col12a1	UTSW	9	79,548,863 (GRCm39)	missense	probably benign	0.00
R7923:Col12a1	UTSW	9	79,585,775 (GRCm39)	missense	probably benign	0.00
R7986:Col12a1	UTSW	9	79,511,674 (GRCm39)	critical splice donor site	probably null
R8004:Col12a1	UTSW	9	79,591,683 (GRCm39)	missense	probably damaging	1.00
R8046:Col12a1	UTSW	9	79,613,508 (GRCm39)	critical splice donor site	probably null
R8056:Col12a1	UTSW	9	79,507,220 (GRCm39)	missense
R8151:Col12a1	UTSW	9	79,537,831 (GRCm39)	missense	possibly damaging	0.62
R8203:Col12a1	UTSW	9	79,588,831 (GRCm39)	missense	possibly damaging	0.94
R8221:Col12a1	UTSW	9	79,551,224 (GRCm39)	missense	probably damaging	1.00
R8294:Col12a1	UTSW	9	79,606,594 (GRCm39)	missense	possibly damaging	0.91
R8309:Col12a1	UTSW	9	79,512,465 (GRCm39)	missense	possibly damaging	0.68
R8319:Col12a1	UTSW	9	79,555,979 (GRCm39)	missense	probably damaging	0.97
R8351:Col12a1	UTSW	9	79,588,694 (GRCm39)	missense	probably damaging	0.97
R8442:Col12a1	UTSW	9	79,542,781 (GRCm39)	missense	probably damaging	1.00
R8500:Col12a1	UTSW	9	79,517,133 (GRCm39)	missense	probably damaging	1.00
R8682:Col12a1	UTSW	9	79,568,358 (GRCm39)	missense	probably benign	0.03
R8700:Col12a1	UTSW	9	79,527,371 (GRCm39)	missense	probably benign	0.09
R8859:Col12a1	UTSW	9	79,587,681 (GRCm39)	nonsense	probably null
R8898:Col12a1	UTSW	9	79,599,577 (GRCm39)	missense	probably benign	0.08
R8930:Col12a1	UTSW	9	79,580,665 (GRCm39)	missense	probably benign
R8932:Col12a1	UTSW	9	79,580,665 (GRCm39)	missense	probably benign
R8949:Col12a1	UTSW	9	79,581,970 (GRCm39)	missense	probably benign	0.17
R8962:Col12a1	UTSW	9	79,538,901 (GRCm39)	missense	probably damaging	1.00
R9045:Col12a1	UTSW	9	79,582,034 (GRCm39)	missense	probably benign	0.00
R9080:Col12a1	UTSW	9	79,517,133 (GRCm39)	missense	probably benign	0.06
R9145:Col12a1	UTSW	9	79,527,344 (GRCm39)	missense	probably benign	0.16
R9163:Col12a1	UTSW	9	79,548,729 (GRCm39)	critical splice donor site	probably null
R9168:Col12a1	UTSW	9	79,548,783 (GRCm39)	nonsense	probably null
R9188:Col12a1	UTSW	9	79,509,614 (GRCm39)	missense	probably benign	0.22
R9258:Col12a1	UTSW	9	79,613,645 (GRCm39)	missense	probably benign	0.04
R9292:Col12a1	UTSW	9	79,585,805 (GRCm39)	missense	probably benign	0.33
R9345:Col12a1	UTSW	9	79,541,017 (GRCm39)	missense	probably benign	0.08
R9382:Col12a1	UTSW	9	79,589,364 (GRCm39)	missense	probably benign	0.23
R9427:Col12a1	UTSW	9	79,589,445 (GRCm39)	missense	probably benign	0.15
R9601:Col12a1	UTSW	9	79,525,034 (GRCm39)	missense	probably damaging	0.98
R9653:Col12a1	UTSW	9	79,584,556 (GRCm39)	missense	probably benign
R9668:Col12a1	UTSW	9	79,546,960 (GRCm39)	nonsense	probably null
R9762:Col12a1	UTSW	9	79,527,266 (GRCm39)	missense	possibly damaging	0.82
X0021:Col12a1	UTSW	9	79,515,767 (GRCm39)	missense	probably damaging	1.00
X0058:Col12a1	UTSW	9	79,509,506 (GRCm39)	missense	possibly damaging	0.66
X0061:Col12a1	UTSW	9	79,519,674 (GRCm39)	splice site	probably null
Z1177:Col12a1	UTSW	9	79,507,268 (GRCm39)	missense	possibly damaging	0.80
Z1177:Col12a1	UTSW	9	79,546,978 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGAAAGGCATCAAAATCCTCCACTG -3'
(R):5'- ATTTCTCCGAACAGGGTGCAGATAAG -3'

Sequencing Primer
(F):5'- ACGTGGGTCTCAGCAGG -3'
(R):5'- AGGGTGCAGATAAGCCTTG -3'

Posted On

2014-04-13