Mutagenetix > Incidental Mutation

Incidental Mutation 'R5796:Col12a1'

447238

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

043387-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R5796 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79506273-79626113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79611111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 154 (N154D)

Ref Sequence

ENSEMBL: ENSMUSP00000071662 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071750
AA Change: N154D

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: N154D

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

possibly damaging
Transcript: ENSMUST00000121227
AA Change: N154D

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: N154D

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

Meta Mutation Damage Score

0.1283

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

93% (51/55)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,215,077 (GRCm39)	T9A	possibly damaging	Het
Abcd3	G	A	3: 121,578,147 (GRCm39)	R160W	probably damaging	Het
Ap3d1	G	T	10: 80,549,871 (GRCm39)	T758K	possibly damaging	Het
Ate1	T	C	7: 130,068,998 (GRCm39)	Y423C	probably damaging	Het
Bsn	C	T	9: 108,003,223 (GRCm39)	G394D	probably damaging	Het
Cacna1d	T	C	14: 29,788,073 (GRCm39)	D1599G	probably damaging	Het
Cd33	A	G	7: 43,182,480 (GRCm39)		probably null	Het
Chct1	A	G	11: 85,064,101 (GRCm39)	T81A	probably null	Het
Crocc	TCTGAGCTGCTGAGCTGC	TCTGAGCTGC	4: 140,769,118 (GRCm39)		probably null	Het
Cts3	A	T	13: 61,716,517 (GRCm39)	Y40N	probably damaging	Het
Cyfip2	T	C	11: 46,089,823 (GRCm39)	N1197D	probably benign	Het
Dclre1b	G	A	3: 103,714,773 (GRCm39)	Q77*	probably null	Het
Dsc3	T	A	18: 20,104,558 (GRCm39)	M590L	probably benign	Het
Efcab14	A	T	4: 115,603,780 (GRCm39)	I153F	probably damaging	Het
Fbxo42	T	C	4: 140,927,100 (GRCm39)	V460A	probably benign	Het
Fgl1	T	G	8: 41,652,796 (GRCm39)		probably benign	Het
Gbf1	T	C	19: 46,272,782 (GRCm39)	S1697P	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm15056	C	A	8: 21,391,998 (GRCm39)		probably benign	Het
Gm17409	T	A	2: 58,361,034 (GRCm39)		probably benign	Het
Gm20730	A	G	6: 43,058,464 (GRCm39)	L116P	probably damaging	Het
Grb2	T	G	11: 115,536,698 (GRCm39)	H184P	probably benign	Het
Hepacam2	G	C	6: 3,466,200 (GRCm39)		probably null	Het
Hsd3b9	A	T	3: 98,354,168 (GRCm39)	D110E	probably benign	Het
Igkv4-55	T	A	6: 69,584,432 (GRCm39)	K60M	possibly damaging	Het
Itfg1	T	A	8: 86,445,522 (GRCm39)	H603L	probably damaging	Het
Katna1	C	A	10: 7,636,575 (GRCm39)	D366E	probably damaging	Het
Klk1b26	A	G	7: 43,665,752 (GRCm39)	Y188C	probably damaging	Het
Ldhd	T	C	8: 112,353,722 (GRCm39)	T464A	probably benign	Het
Muc5b	T	C	7: 141,411,133 (GRCm39)	S1360P	unknown	Het
Nckipsd	T	G	9: 108,688,813 (GRCm39)	V116G	probably benign	Het
Nhsl1	C	T	10: 18,399,998 (GRCm39)	S374L	probably benign	Het
Oxt	G	A	2: 130,418,533 (GRCm39)	G48D	probably damaging	Het
Pramel21	A	G	4: 143,341,778 (GRCm39)	N69S	probably benign	Het
Ptprk	C	T	10: 28,259,571 (GRCm39)	T337I	probably damaging	Het
Rad54b	A	T	4: 11,615,446 (GRCm39)	D818V	probably benign	Het
Rbpjl	T	C	2: 164,252,168 (GRCm39)		probably benign	Het
Recql5	T	A	11: 115,818,691 (GRCm39)		probably benign	Het
Robo4	A	T	9: 37,322,970 (GRCm39)	D830V	probably benign	Het
Rps6kb1	C	T	11: 86,402,677 (GRCm39)	G339S	probably benign	Het
Rtel1	G	A	2: 180,982,299 (GRCm39)	E350K	probably benign	Het
Rtn3	A	G	19: 7,434,832 (GRCm39)	S368P	possibly damaging	Het
Smad5	A	G	13: 56,871,645 (GRCm39)	H80R	probably damaging	Het
Sppl2c	T	A	11: 104,078,619 (GRCm39)	M473K	probably benign	Het
Tbrg1	A	G	9: 37,563,871 (GRCm39)		probably benign	Het
Tcf7	A	G	11: 52,152,354 (GRCm39)	I65T	probably benign	Het
Tgm2	T	C	2: 157,960,824 (GRCm39)	D618G	probably benign	Het
Tuba3b	C	T	6: 145,565,408 (GRCm39)	T292I	probably damaging	Het
Vmn1r63	G	A	7: 5,806,140 (GRCm39)	S164L	probably benign	Het
Zfp382	A	G	7: 29,832,774 (GRCm39)	K142E	probably damaging	Het
Zmym3	G	A	X: 100,459,406 (GRCm39)	P308L	probably benign	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
R1511:Col12a1	UTSW	9	79,606,834 (GRCm39)	missense	probably benign	0.02
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
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'- TACCTGTCATTGTGTTGCCG -3'
(R):5'- AGGCATCCTGTCCCATACATG -3'

Sequencing Primer
(F):5'- CATTGTGTTGCCGCCTTTG -3'
(R):5'- CATACATGGATCTTCATATGTGCAC -3'

Posted On

2016-12-15