Mutagenetix > Incidental Mutation

Incidental Mutation 'R9653:Col12a1'

727203

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.839) question?

Stock #

R9653 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79506273-79626113 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79584556 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1344 (K1344R)

Ref Sequence

ENSEMBL: ENSMUSP00000071662 (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: K1344R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: K1344R

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: K1344R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: K1344R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,243,741 (GRCm39)	P1868L	probably benign	Het
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Adamtsl5	C	T	10: 80,180,763 (GRCm39)	G100R	probably damaging	Het
Adgrg5	C	T	8: 95,663,864 (GRCm39)	P235S		Het
Anks1b	T	G	10: 90,346,524 (GRCm39)	L608R	probably damaging	Het
Ano10	C	G	9: 122,080,221 (GRCm39)	A597P	possibly damaging	Het
Calb2	T	C	8: 110,881,374 (GRCm39)	M58V	probably benign	Het
Ccdc180	T	C	4: 45,923,495 (GRCm39)	I1092T	probably damaging	Het
Ces3b	G	T	8: 105,812,257 (GRCm39)	A169S	probably damaging	Het
Chmp2a	A	T	7: 12,766,456 (GRCm39)	F129I	probably damaging	Het
Clasp2	T	A	9: 113,670,993 (GRCm39)	W365R	probably benign	Het
Col3a1	A	G	1: 45,360,728 (GRCm39)	I53V	unknown	Het
Coro2b	T	C	9: 62,335,259 (GRCm39)	Y309C	probably damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Crygs	T	A	16: 22,625,304 (GRCm39)	T46S	probably benign	Het
Ctbp2	C	G	7: 132,615,933 (GRCm39)	R334P	probably damaging	Het
Dcstamp	A	T	15: 39,623,792 (GRCm39)	D469V	probably benign	Het
Dhdh	T	C	7: 45,128,551 (GRCm39)	D209G	probably damaging	Het
Dnah7b	T	C	1: 46,252,544 (GRCm39)	V1742A	possibly damaging	Het
Dnaja2	T	C	8: 86,265,982 (GRCm39)	T368A	probably benign	Het
Dscaml1	T	C	9: 45,643,466 (GRCm39)		probably null	Het
Eps8l1	A	T	7: 4,481,886 (GRCm39)	K704M	unknown	Het
Fam186b	G	A	15: 99,177,616 (GRCm39)	A570V	probably damaging	Het
Fgd4	T	A	16: 16,254,461 (GRCm39)	H524L	probably benign	Het
Fktn	T	A	4: 53,731,273 (GRCm39)	F103I	probably benign	Het
Gcc2	T	C	10: 58,110,822 (GRCm39)	M1001T	possibly damaging	Het
Gm4847	T	C	1: 166,467,582 (GRCm39)	S205G	possibly damaging	Het
Grid2	A	T	6: 63,907,968 (GRCm39)	N203Y	possibly damaging	Het
Hif3a	G	A	7: 16,782,641 (GRCm39)	A308V	probably damaging	Het
Htr5a	A	G	5: 28,047,838 (GRCm39)	N131S	possibly damaging	Het
Igfn1	G	A	1: 135,883,323 (GRCm39)	Q2728*	probably null	Het
Ighv5-16	C	A	12: 113,802,313 (GRCm39)	K62N	possibly damaging	Het
Ip6k3	A	T	17: 27,367,588 (GRCm39)	Y203N	possibly damaging	Het
Itga2	G	A	13: 115,020,991 (GRCm39)	P120L	probably benign	Het
Itpkb	G	T	1: 180,160,056 (GRCm39)	E61*	probably null	Het
Kcnj3	G	A	2: 55,484,864 (GRCm39)	V321M	probably damaging	Het
Kmt2c	A	G	5: 25,507,819 (GRCm39)	L3206P	probably damaging	Het
Krtap5-4	T	C	7: 141,857,908 (GRCm39)	C193R	unknown	Het
Large1	G	T	8: 73,564,106 (GRCm39)	H553Q	probably benign	Het
Lrfn5	T	A	12: 61,890,418 (GRCm39)	V569D	probably damaging	Het
Luzp2	A	G	7: 54,702,580 (GRCm39)	T48A	probably damaging	Het
Lypd6	A	T	2: 50,080,758 (GRCm39)	T149S	probably benign	Het
Map3k1	T	C	13: 111,890,296 (GRCm39)	N1301S	possibly damaging	Het
Ndufv2	C	T	17: 66,396,251 (GRCm39)	W91*	probably null	Het
Nisch	A	T	14: 30,893,628 (GRCm39)	V1315E	probably damaging	Het
Npas1	T	C	7: 16,190,146 (GRCm39)	I467V	probably benign	Het
Nucb1	A	G	7: 45,144,202 (GRCm39)	M337T	probably benign	Het
Oog3	T	G	4: 143,884,489 (GRCm39)	R482S	probably benign	Het
Or10d4b	T	C	9: 39,535,154 (GRCm39)	L243P	probably damaging	Het
Or4f14c	A	T	2: 111,941,261 (GRCm39)	M112K	probably damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Or56a42-ps1	A	T	7: 104,775,985 (GRCm39)	N164K	probably benign	Het
Padi2	T	C	4: 140,662,036 (GRCm39)		probably null	Het
Pam	C	T	1: 97,768,469 (GRCm39)	V660M	possibly damaging	Het
Phc2	C	T	4: 128,641,012 (GRCm39)	L700F	probably damaging	Het
Plekha1	T	C	7: 130,479,494 (GRCm39)	V4A	possibly damaging	Het
Rai1	A	G	11: 60,080,142 (GRCm39)	E1402G	probably benign	Het
Recql5	G	A	11: 115,788,032 (GRCm39)	A429V	probably benign	Het
Rere	A	G	4: 150,516,010 (GRCm39)	N101S	probably benign	Het
Robo1	T	G	16: 72,821,330 (GRCm39)	S1357A	possibly damaging	Het
Rsl1	T	A	13: 67,330,106 (GRCm39)	Y185N	probably damaging	Het
Rsph3a	T	C	17: 8,165,074 (GRCm39)	S145P	possibly damaging	Het
Sall1	T	C	8: 89,757,506 (GRCm39)	E866G	probably damaging	Het
Sall3	A	T	18: 81,016,228 (GRCm39)	S567T	probably benign	Het
Sap30	G	A	8: 57,938,156 (GRCm39)	Q154*	probably null	Het
Sbf2	T	C	7: 110,040,702 (GRCm39)	Q375R	possibly damaging	Het
Scn8a	A	G	15: 100,937,947 (GRCm39)	E1772G	probably damaging	Het
Scube3	C	T	17: 28,375,772 (GRCm39)	A169V	probably damaging	Het
Sema6c	T	C	3: 95,080,525 (GRCm39)	S940P	probably benign	Het
Sertad4	C	T	1: 192,528,836 (GRCm39)	D327N	probably damaging	Het
Shisal2b	A	G	13: 105,000,296 (GRCm39)		probably benign	Het
Skp1	A	G	11: 52,134,514 (GRCm39)	T82A	possibly damaging	Het
Slc39a14	G	T	14: 70,547,248 (GRCm39)	T366K	probably damaging	Het
Snrnp200	G	T	2: 127,067,959 (GRCm39)	V819L	probably damaging	Het
Sntg1	T	A	1: 8,433,749 (GRCm39)	T501S	unknown	Het
Srsf12	T	C	4: 33,231,249 (GRCm39)	S253P	possibly damaging	Het
Sycp2l	A	G	13: 41,295,381 (GRCm39)	S315G	probably benign	Het
Tars2	T	C	3: 95,655,379 (GRCm39)	Y337C	probably damaging	Het
Thbs4	T	C	13: 92,898,022 (GRCm39)	D599G	probably benign	Het
Tmem200c	A	G	17: 69,149,181 (GRCm39)	H588R	probably benign	Het
Tmem255b	T	A	8: 13,506,005 (GRCm39)	V204E	probably damaging	Het
Usp24	T	A	4: 106,204,564 (GRCm39)	M261K	probably benign	Het
Utrn	T	A	10: 12,497,123 (GRCm39)	I2429F	probably benign	Het
Utrn	C	T	10: 12,539,189 (GRCm39)	A1943T	probably benign	Het
Vmn2r85	A	T	10: 130,261,694 (GRCm39)	D214E	probably damaging	Het
Wdr81	G	T	11: 75,340,213 (GRCm39)	P183T		Het
Zfp28	G	A	7: 6,395,623 (GRCm39)	R134H		Het
Zfp532	T	A	18: 65,756,308 (GRCm39)	D80E	possibly damaging	Het
Zfyve26	T	C	12: 79,334,418 (GRCm39)	D200G	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
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
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'- TCTTTAGTCACCACAACTCAGGG -3'
(R):5'- GGTACCTGCACTCATGAGATTAAC -3'

Sequencing Primer
(F):5'- AACTCAGGGGAATCTCCTGGTATC -3'
(R):5'- TGCACTCATGAGATTAACAGACC -3'

Posted On

2022-10-06