Mutagenetix > Incidental Mutation

Incidental Mutation 'R7466:Col12a1'

578783

Institutional Source

Beutler Lab

Gene Symbol

Col12a1

Ensembl Gene

ENSMUSG00000032332

Gene Name

collagen, type XII, alpha 1

Synonyms

MMRRC Submission

045540-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.845) question?

Stock #

R7466 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79598991-79718831 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 79655407 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1798 (E1798K)

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: E1798K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000071662
Gene: ENSMUSG00000032332
AA Change: E1798K

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: E1798K

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112604
Gene: ENSMUSG00000032332
AA Change: E1798K

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: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (83/84)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	A	2: 35,088,741 (GRCm38)	K203*	probably null	Het
Akr1c13	T	C	13: 4,192,437 (GRCm38)		probably benign	Het
Amer3	A	G	1: 34,587,993 (GRCm38)	S438G	probably damaging	Het
Aqp9	T	A	9: 71,163,261 (GRCm38)		probably null	Het
Art4	G	T	6: 136,854,850 (GRCm38)	H98N	probably damaging	Het
Bdh1	T	C	16: 31,447,604 (GRCm38)	S70P	probably benign	Het
Ccdc61	A	C	7: 18,891,105 (GRCm38)	Y503D	probably damaging	Het
Cd180	A	T	13: 102,704,995 (GRCm38)	N183I	probably damaging	Het
Cd200r2	C	T	16: 44,909,174 (GRCm38)	A64V	probably damaging	Het
Ceacam9	A	C	7: 16,723,855 (GRCm38)	K98Q	probably benign	Het
Cep44	AACGC	A	8: 56,540,983 (GRCm38)		probably null	Het
Cfap77	G	T	2: 28,955,613 (GRCm38)	D247E	probably benign	Het
Cftr	T	C	6: 18,227,973 (GRCm38)	M388T	probably benign	Het
Chrnb1	G	A	11: 69,784,650 (GRCm38)	H493Y	probably damaging	Het
Ckap2	A	C	8: 22,177,386 (GRCm38)	M153R	probably benign	Het
Cnot6l	A	G	5: 96,131,128 (GRCm38)	V77A	probably benign	Het
Cth	T	A	3: 157,924,885 (GRCm38)	D49V	probably benign	Het
Ctnnb1	T	C	9: 120,955,416 (GRCm38)	S425P	probably damaging	Het
Ctnnd1	T	C	2: 84,610,785 (GRCm38)	N690S	probably benign	Het
Dennd4c	A	G	4: 86,774,331 (GRCm38)	D26G	probably damaging	Het
Dlg5	G	A	14: 24,245,212 (GRCm38)	P80L	probably damaging	Het
Dnai3	T	C	3: 146,055,618 (GRCm38)	D661G	probably benign	Het
Eef2k	A	G	7: 120,903,484 (GRCm38)		probably null	Het
Ephb2	C	T	4: 136,659,065 (GRCm38)	R791H	probably damaging	Het
Erh	T	C	12: 80,640,983 (GRCm38)	Y22C	probably benign	Het
F5	C	T	1: 164,193,328 (GRCm38)	T1124I	possibly damaging	Het
Fam220a	T	A	5: 143,563,471 (GRCm38)	C213S	possibly damaging	Het
Fat2	G	T	11: 55,310,432 (GRCm38)	N605K	probably damaging	Het
Ganab	C	A	19: 8,914,569 (GRCm38)	S780*	probably null	Het
Gbgt1	C	T	2: 28,502,207 (GRCm38)	P67S	probably damaging	Het
Gm17190	G	T	13: 96,082,779 (GRCm38)	G208*	probably null	Het
Grhl2	A	G	15: 37,291,616 (GRCm38)	Y316C	probably damaging	Het
H2-T10	T	C	17: 36,120,849 (GRCm38)	T38A	probably benign	Het
Ins1	A	G	19: 52,264,420 (GRCm38)		probably benign	Het
Ippk	T	C	13: 49,432,467 (GRCm38)		probably null	Het
Klc4	T	A	17: 46,639,910 (GRCm38)	I258F	probably benign	Het
Manba	C	A	3: 135,542,393 (GRCm38)	L348I	probably benign	Het
Mgam	A	G	6: 40,744,789 (GRCm38)	N347S	probably benign	Het
Myo18b	T	C	5: 112,723,892 (GRCm38)	T2108A	probably benign	Het
Naip5	A	T	13: 100,221,986 (GRCm38)	L914*	probably null	Het
Nsa2	C	T	13: 97,131,220 (GRCm38)	A242T	probably benign	Het
Nsd2	G	A	5: 33,882,147 (GRCm38)	W834*	probably null	Het
Or10q3	T	A	19: 11,870,316 (GRCm38)	D300V	possibly damaging	Het
Or5p50	A	T	7: 107,822,922 (GRCm38)	C182*	probably null	Het
Or5w1	T	C	2: 87,656,396 (GRCm38)	N175S	possibly damaging	Het
Or8s16	T	C	15: 98,313,380 (GRCm38)	M57V	probably damaging	Het
Pam	A	T	1: 97,842,247 (GRCm38)	D599E	probably damaging	Het
Phf20l1	A	G	15: 66,636,884 (GRCm38)	K864R	probably damaging	Het
Pip4p2	T	A	4: 14,912,477 (GRCm38)	Y195*	probably null	Het
Plcl2	A	G	17: 50,608,468 (GRCm38)	D835G	probably damaging	Het
Ppm1m	C	A	9: 106,196,157 (GRCm38)	A329S	probably damaging	Het
Prep	T	C	10: 45,150,438 (GRCm38)	V486A	probably benign	Het
Prkcb	A	T	7: 122,516,844 (GRCm38)	N182I	probably damaging	Het
Prkcz	A	G	4: 155,271,602 (GRCm38)	F355S	probably damaging	Het
Psg20	C	T	7: 18,684,467 (GRCm38)	S125N	probably benign	Het
Psmd12	A	G	11: 107,492,057 (GRCm38)	D234G	probably benign	Het
Pvrig	A	T	5: 138,342,008 (GRCm38)	M14L	probably benign	Het
Rabgap1l	C	T	1: 160,226,484 (GRCm38)		probably null	Het
Rfc1	A	T	5: 65,275,426 (GRCm38)	C764S	probably damaging	Het
Ryr3	T	C	2: 112,926,957 (GRCm38)	D351G	probably benign	Het
Scart1	T	C	7: 140,220,706 (GRCm38)		probably null	Het
Serpinb9g	T	C	13: 33,495,167 (GRCm38)	F340S	probably benign	Het
Sirpb1c	C	A	3: 15,832,266 (GRCm38)	L315F	probably damaging	Het
Slc24a1	C	G	9: 64,928,404 (GRCm38)	E814Q	unknown	Het
Slc26a11	A	T	11: 119,374,502 (GRCm38)	Q355L	probably damaging	Het
Sp100	C	T	1: 85,707,239 (GRCm38)	L483F	possibly damaging	Het
St5	A	G	7: 109,525,346 (GRCm38)	L1096P	probably damaging	Het
Ston1	T	A	17: 88,635,901 (GRCm38)	M245K	probably benign	Het
Swap70	T	A	7: 110,274,772 (GRCm38)	D442E	probably benign	Het
Syne2	T	A	12: 76,046,186 (GRCm38)	V450D	possibly damaging	Het
Tbck	T	A	3: 132,752,563 (GRCm38)	N651K	probably damaging	Het
Timd4	A	T	11: 46,817,758 (GRCm38)	T204S	probably benign	Het
Tmem102	A	G	11: 69,804,885 (GRCm38)	L87P	probably damaging	Het
Tmprss11e	T	A	5: 86,709,480 (GRCm38)	T325S	probably benign	Het
Trpm1	G	A	7: 64,240,582 (GRCm38)	V978M	probably damaging	Het
Wdr12	A	T	1: 60,094,511 (GRCm38)	D19E	probably benign	Het
Wdr35	G	A	12: 9,005,773 (GRCm38)	V482I	probably benign	Het
Zer1	T	C	2: 30,101,484 (GRCm38)		probably null	Het
Zfp503	T	C	14: 21,986,011 (GRCm38)	D279G	probably benign	Het
Zfp870	A	T	17: 32,883,762 (GRCm38)	C198S	possibly damaging	Het
Zftraf1	C	T	15: 76,648,186 (GRCm38)	D241N	probably benign	Het
Zfyve26	C	T	12: 79,287,807 (GRCm38)	E146K	probably benign	Het
Zkscan6	T	C	11: 65,828,531 (GRCm38)	V459A	probably damaging	Het

Other mutations in Col12a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col12a1	APN	9	79,681,537 (GRCm38)	missense	possibly damaging	0.55
IGL00434:Col12a1	APN	9	79,653,332 (GRCm38)	missense	probably benign	0.27
IGL00465:Col12a1	APN	9	79,697,581 (GRCm38)	missense	probably damaging	1.00
IGL00568:Col12a1	APN	9	79,651,477 (GRCm38)	missense	probably damaging	1.00
IGL00576:Col12a1	APN	9	79,647,652 (GRCm38)	missense	probably damaging	1.00
IGL00580:Col12a1	APN	9	79,692,226 (GRCm38)	missense	probably benign	0.05
IGL01015:Col12a1	APN	9	79,633,741 (GRCm38)	missense	probably damaging	1.00
IGL01124:Col12a1	APN	9	79,703,847 (GRCm38)	missense	probably damaging	1.00
IGL01138:Col12a1	APN	9	79,678,053 (GRCm38)	missense	probably damaging	1.00
IGL01295:Col12a1	APN	9	79,643,926 (GRCm38)	missense	probably damaging	1.00
IGL01630:Col12a1	APN	9	79,657,366 (GRCm38)	missense	probably damaging	1.00
IGL01648:Col12a1	APN	9	79,601,169 (GRCm38)	makesense	probably null
IGL01878:Col12a1	APN	9	79,649,975 (GRCm38)	missense	possibly damaging	0.72
IGL01921:Col12a1	APN	9	79,650,017 (GRCm38)	missense	possibly damaging	0.50
IGL02064:Col12a1	APN	9	79,692,372 (GRCm38)	missense	probably benign	0.06
IGL02123:Col12a1	APN	9	79,662,458 (GRCm38)	critical splice donor site	probably null
IGL02312:Col12a1	APN	9	79,681,515 (GRCm38)	missense	probably damaging	1.00
IGL02320:Col12a1	APN	9	79,616,021 (GRCm38)	critical splice donor site	probably null
IGL02328:Col12a1	APN	9	79,682,066 (GRCm38)	missense	probably damaging	1.00
IGL02342:Col12a1	APN	9	79,649,896 (GRCm38)	splice site	probably null
IGL02355:Col12a1	APN	9	79,630,711 (GRCm38)	splice site	probably benign
IGL02362:Col12a1	APN	9	79,630,711 (GRCm38)	splice site	probably benign
IGL02396:Col12a1	APN	9	79,662,583 (GRCm38)	missense	probably benign
IGL02449:Col12a1	APN	9	79,641,469 (GRCm38)	missense	probably damaging	1.00
IGL02682:Col12a1	APN	9	79,699,341 (GRCm38)	missense	probably damaging	1.00
IGL02751:Col12a1	APN	9	79,613,859 (GRCm38)	unclassified	probably benign
IGL02801:Col12a1	APN	9	79,608,414 (GRCm38)	splice site	probably null
IGL03001:Col12a1	APN	9	79,633,673 (GRCm38)	missense	probably damaging	1.00
IGL03027:Col12a1	APN	9	79,641,551 (GRCm38)	missense	probably benign	0.40
IGL03090:Col12a1	APN	9	79,678,370 (GRCm38)	missense	probably damaging	1.00
IGL03115:Col12a1	APN	9	79,681,437 (GRCm38)	missense	probably damaging	1.00
IGL03220:Col12a1	APN	9	79,699,483 (GRCm38)	missense	probably damaging	1.00
IGL03240:Col12a1	APN	9	79,678,383 (GRCm38)	splice site	probably null
IGL03348:Col12a1	APN	9	79,693,430 (GRCm38)	missense	possibly damaging	0.88
airship	UTSW	9	79,706,337 (GRCm38)	missense	possibly damaging	0.65
dirigible	UTSW	9	79,703,829 (GRCm38)	missense	possibly damaging	0.73
Feast	UTSW	9	79,700,262 (GRCm38)	missense	probably benign	0.00
hardly	UTSW	9	79,700,350 (GRCm38)	nonsense	probably null
hearty	UTSW	9	79,643,966 (GRCm38)	missense	probably damaging	1.00
Hefty	UTSW	9	79,662,454 (GRCm38)	splice site	probably benign
P0045:Col12a1	UTSW	9	79,647,611 (GRCm38)	missense	probably damaging	0.99
PIT4260001:Col12a1	UTSW	9	79,651,380 (GRCm38)	critical splice donor site	probably null
PIT4280001:Col12a1	UTSW	9	79,678,105 (GRCm38)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,651,385 (GRCm38)	missense	probably damaging	1.00
R0015:Col12a1	UTSW	9	79,651,385 (GRCm38)	missense	probably damaging	1.00
R0240:Col12a1	UTSW	9	79,652,033 (GRCm38)	missense	probably benign	0.02
R0276:Col12a1	UTSW	9	79,630,741 (GRCm38)	nonsense	probably null
R0309:Col12a1	UTSW	9	79,600,011 (GRCm38)	splice site	probably null
R0336:Col12a1	UTSW	9	79,702,345 (GRCm38)	missense	probably damaging	0.98
R0376:Col12a1	UTSW	9	79,693,494 (GRCm38)	missense	probably benign	0.10
R0413:Col12a1	UTSW	9	79,699,360 (GRCm38)	missense	probably damaging	0.99
R0504:Col12a1	UTSW	9	79,681,468 (GRCm38)	missense	possibly damaging	0.90
R0542:Col12a1	UTSW	9	79,605,328 (GRCm38)	critical splice donor site	probably null
R0610:Col12a1	UTSW	9	79,707,848 (GRCm38)	missense	probably benign
R0631:Col12a1	UTSW	9	79,703,376 (GRCm38)	missense	probably damaging	1.00
R0637:Col12a1	UTSW	9	79,656,735 (GRCm38)	missense	probably benign	0.00
R0667:Col12a1	UTSW	9	79,628,462 (GRCm38)	missense	probably damaging	1.00
R0711:Col12a1	UTSW	9	79,652,035 (GRCm38)	missense	probably damaging	1.00
R0717:Col12a1	UTSW	9	79,612,419 (GRCm38)	missense	probably damaging	1.00
R0762:Col12a1	UTSW	9	79,681,374 (GRCm38)	splice site	probably benign
R0787:Col12a1	UTSW	9	79,638,485 (GRCm38)	missense	probably damaging	0.99
R0890:Col12a1	UTSW	9	79,700,402 (GRCm38)	missense	probably damaging	0.97
R0900:Col12a1	UTSW	9	79,684,253 (GRCm38)	missense	possibly damaging	0.91
R1109:Col12a1	UTSW	9	79,699,723 (GRCm38)	missense	probably damaging	1.00
R1264:Col12a1	UTSW	9	79,620,089 (GRCm38)	missense	probably benign	0.09
R1321:Col12a1	UTSW	9	79,617,709 (GRCm38)	nonsense	probably null
R1344:Col12a1	UTSW	9	79,699,555 (GRCm38)	nonsense	probably null
R1387:Col12a1	UTSW	9	79,681,375 (GRCm38)	splice site	probably benign
R1511:Col12a1	UTSW	9	79,699,552 (GRCm38)	missense	probably benign	0.02
R1523:Col12a1	UTSW	9	79,660,996 (GRCm38)	missense	probably benign	0.01
R1526:Col12a1	UTSW	9	79,656,798 (GRCm38)	missense	probably benign	0.44
R1564:Col12a1	UTSW	9	79,613,840 (GRCm38)	missense	probably damaging	1.00
R1595:Col12a1	UTSW	9	79,602,254 (GRCm38)	missense	probably damaging	1.00
R1603:Col12a1	UTSW	9	79,612,962 (GRCm38)	missense	probably damaging	1.00
R1673:Col12a1	UTSW	9	79,693,538 (GRCm38)	missense	probably benign	0.00
R1730:Col12a1	UTSW	9	79,628,378 (GRCm38)	missense	possibly damaging	0.93
R1737:Col12a1	UTSW	9	79,703,451 (GRCm38)	missense	probably damaging	1.00
R1739:Col12a1	UTSW	9	79,633,468 (GRCm38)	missense	probably damaging	0.98
R1748:Col12a1	UTSW	9	79,672,997 (GRCm38)	missense	probably benign	0.01
R1778:Col12a1	UTSW	9	79,604,585 (GRCm38)	splice site	probably benign
R1845:Col12a1	UTSW	9	79,697,541 (GRCm38)	missense	probably benign	0.09
R1864:Col12a1	UTSW	9	79,627,103 (GRCm38)	splice site	probably null
R1876:Col12a1	UTSW	9	79,678,281 (GRCm38)	nonsense	probably null
R1934:Col12a1	UTSW	9	79,604,522 (GRCm38)	nonsense	probably null
R1942:Col12a1	UTSW	9	79,635,466 (GRCm38)	missense	probably damaging	1.00
R1950:Col12a1	UTSW	9	79,630,549 (GRCm38)	missense	possibly damaging	0.62
R2027:Col12a1	UTSW	9	79,645,793 (GRCm38)	critical splice acceptor site	probably null
R2061:Col12a1	UTSW	9	79,617,705 (GRCm38)	missense	possibly damaging	0.88
R2064:Col12a1	UTSW	9	79,662,454 (GRCm38)	splice site	probably benign
R2070:Col12a1	UTSW	9	79,647,696 (GRCm38)	missense	probably benign	0.00
R2112:Col12a1	UTSW	9	79,643,899 (GRCm38)	missense	possibly damaging	0.93
R2209:Col12a1	UTSW	9	79,692,352 (GRCm38)	missense	possibly damaging	0.83
R2275:Col12a1	UTSW	9	79,635,427 (GRCm38)	missense	probably damaging	0.99
R2330:Col12a1	UTSW	9	79,633,657 (GRCm38)	missense	probably damaging	0.99
R2373:Col12a1	UTSW	9	79,656,813 (GRCm38)	missense	probably benign	0.03
R2425:Col12a1	UTSW	9	79,678,366 (GRCm38)	missense	probably damaging	1.00
R2428:Col12a1	UTSW	9	79,602,251 (GRCm38)	missense	probably benign	0.30
R2437:Col12a1	UTSW	9	79,692,219 (GRCm38)	missense	probably damaging	0.97
R2831:Col12a1	UTSW	9	79,697,401 (GRCm38)	missense	probably null	0.99
R2851:Col12a1	UTSW	9	79,678,332 (GRCm38)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2872:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2874:Col12a1	UTSW	9	79,699,549 (GRCm38)	missense	probably damaging	1.00
R2904:Col12a1	UTSW	9	79,652,025 (GRCm38)	missense	probably damaging	1.00
R2905:Col12a1	UTSW	9	79,652,025 (GRCm38)	missense	probably damaging	1.00
R2991:Col12a1	UTSW	9	79,700,265 (GRCm38)	missense	probably damaging	1.00
R3402:Col12a1	UTSW	9	79,643,947 (GRCm38)	missense	probably damaging	1.00
R3429:Col12a1	UTSW	9	79,680,311 (GRCm38)	missense	probably benign
R3430:Col12a1	UTSW	9	79,680,311 (GRCm38)	missense	probably benign
R3547:Col12a1	UTSW	9	79,633,416 (GRCm38)	missense	probably damaging	1.00
R3789:Col12a1	UTSW	9	79,639,723 (GRCm38)	missense	possibly damaging	0.96
R4091:Col12a1	UTSW	9	79,702,364 (GRCm38)	missense	probably damaging	0.99
R4328:Col12a1	UTSW	9	79,700,389 (GRCm38)	missense	possibly damaging	0.91
R4382:Col12a1	UTSW	9	79,630,741 (GRCm38)	nonsense	probably null
R4392:Col12a1	UTSW	9	79,662,488 (GRCm38)	missense	probably damaging	1.00
R4405:Col12a1	UTSW	9	79,639,965 (GRCm38)	critical splice donor site	probably null
R4465:Col12a1	UTSW	9	79,672,910 (GRCm38)	missense	possibly damaging	0.62
R4521:Col12a1	UTSW	9	79,633,357 (GRCm38)	missense	probably benign	0.00
R4612:Col12a1	UTSW	9	79,616,057 (GRCm38)	missense	probably damaging	0.99
R4613:Col12a1	UTSW	9	79,647,601 (GRCm38)	missense	probably benign	0.03
R4649:Col12a1	UTSW	9	79,639,794 (GRCm38)	missense	probably damaging	1.00
R4651:Col12a1	UTSW	9	79,612,946 (GRCm38)	missense	probably damaging	1.00
R4652:Col12a1	UTSW	9	79,612,946 (GRCm38)	missense	probably damaging	1.00
R4738:Col12a1	UTSW	9	79,699,282 (GRCm38)	missense	probably damaging	1.00
R4745:Col12a1	UTSW	9	79,652,086 (GRCm38)	splice site	probably null
R4761:Col12a1	UTSW	9	79,657,310 (GRCm38)	missense	probably benign	0.34
R4784:Col12a1	UTSW	9	79,678,494 (GRCm38)	missense	possibly damaging	0.50
R4785:Col12a1	UTSW	9	79,678,494 (GRCm38)	missense	possibly damaging	0.50
R4809:Col12a1	UTSW	9	79,693,567 (GRCm38)	missense	probably benign	0.10
R4821:Col12a1	UTSW	9	79,715,340 (GRCm38)	intron	probably benign
R4925:Col12a1	UTSW	9	79,674,795 (GRCm38)	missense	probably damaging	1.00
R4938:Col12a1	UTSW	9	79,700,350 (GRCm38)	nonsense	probably null
R5034:Col12a1	UTSW	9	79,657,367 (GRCm38)	missense	probably damaging	1.00
R5133:Col12a1	UTSW	9	79,605,174 (GRCm38)	missense	probably damaging	0.99
R5138:Col12a1	UTSW	9	79,643,966 (GRCm38)	missense	probably damaging	1.00
R5145:Col12a1	UTSW	9	79,706,300 (GRCm38)	missense	probably benign	0.00
R5152:Col12a1	UTSW	9	79,656,748 (GRCm38)	missense	probably damaging	1.00
R5237:Col12a1	UTSW	9	79,700,262 (GRCm38)	missense	probably benign	0.00
R5268:Col12a1	UTSW	9	79,678,047 (GRCm38)	missense	probably damaging	0.99
R5328:Col12a1	UTSW	9	79,620,060 (GRCm38)	missense	probably damaging	0.96
R5372:Col12a1	UTSW	9	79,678,366 (GRCm38)	missense	probably damaging	1.00
R5440:Col12a1	UTSW	9	79,614,363 (GRCm38)	missense	probably benign	0.07
R5496:Col12a1	UTSW	9	79,602,185 (GRCm38)	splice site	probably benign
R5537:Col12a1	UTSW	9	79,699,590 (GRCm38)	missense	probably damaging	1.00
R5596:Col12a1	UTSW	9	79,703,759 (GRCm38)	missense	probably damaging	1.00
R5677:Col12a1	UTSW	9	79,699,321 (GRCm38)	missense	probably damaging	1.00
R5715:Col12a1	UTSW	9	79,616,065 (GRCm38)	nonsense	probably null
R5796:Col12a1	UTSW	9	79,703,829 (GRCm38)	missense	possibly damaging	0.73
R5829:Col12a1	UTSW	9	79,633,673 (GRCm38)	missense	probably damaging	1.00
R5865:Col12a1	UTSW	9	79,604,478 (GRCm38)	missense	probably benign	0.00
R5919:Col12a1	UTSW	9	79,602,298 (GRCm38)	missense	probably damaging	0.99
R5974:Col12a1	UTSW	9	79,682,127 (GRCm38)	missense	probably damaging	0.99
R5981:Col12a1	UTSW	9	79,678,506 (GRCm38)	missense	probably damaging	0.99
R5982:Col12a1	UTSW	9	79,630,560 (GRCm38)	missense	probably damaging	1.00
R6027:Col12a1	UTSW	9	79,656,578 (GRCm38)	critical splice donor site	probably null
R6090:Col12a1	UTSW	9	79,692,393 (GRCm38)	missense	probably damaging	1.00
R6293:Col12a1	UTSW	9	79,614,358 (GRCm38)	missense	probably benign	0.00
R6393:Col12a1	UTSW	9	79,655,485 (GRCm38)	missense	probably damaging	0.99
R6457:Col12a1	UTSW	9	79,645,691 (GRCm38)	missense	probably damaging	1.00
R6505:Col12a1	UTSW	9	79,647,605 (GRCm38)	missense	probably damaging	0.98
R6508:Col12a1	UTSW	9	79,649,949 (GRCm38)	missense	probably damaging	1.00
R6620:Col12a1	UTSW	9	79,620,049 (GRCm38)	missense	probably damaging	0.98
R6718:Col12a1	UTSW	9	79,699,605 (GRCm38)	missense	probably damaging	1.00
R6752:Col12a1	UTSW	9	79,633,424 (GRCm38)	missense	possibly damaging	0.72
R6774:Col12a1	UTSW	9	79,706,337 (GRCm38)	missense	possibly damaging	0.65
R6872:Col12a1	UTSW	9	79,677,234 (GRCm38)	missense	probably damaging	1.00
R6884:Col12a1	UTSW	9	79,639,809 (GRCm38)	missense	possibly damaging	0.92
R6935:Col12a1	UTSW	9	79,700,500 (GRCm38)	missense	possibly damaging	0.76
R7198:Col12a1	UTSW	9	79,650,032 (GRCm38)	missense	possibly damaging	0.56
R7296:Col12a1	UTSW	9	79,682,066 (GRCm38)	missense	probably damaging	1.00
R7365:Col12a1	UTSW	9	79,706,360 (GRCm38)	missense	probably damaging	0.99
R7516:Col12a1	UTSW	9	79,612,910 (GRCm38)	splice site	probably null
R7584:Col12a1	UTSW	9	79,703,296 (GRCm38)	critical splice donor site	probably null
R7624:Col12a1	UTSW	9	79,645,794 (GRCm38)	splice site	probably null
R7670:Col12a1	UTSW	9	79,631,643 (GRCm38)	missense	probably damaging	1.00
R7678:Col12a1	UTSW	9	79,651,486 (GRCm38)	missense	probably damaging	0.99
R7702:Col12a1	UTSW	9	79,681,521 (GRCm38)	missense	probably damaging	1.00
R7796:Col12a1	UTSW	9	79,678,551 (GRCm38)	missense	possibly damaging	0.88
R7902:Col12a1	UTSW	9	79,641,581 (GRCm38)	missense	probably benign	0.00
R7923:Col12a1	UTSW	9	79,678,493 (GRCm38)	missense	probably benign	0.00
R7986:Col12a1	UTSW	9	79,604,392 (GRCm38)	critical splice donor site	probably null
R8004:Col12a1	UTSW	9	79,684,401 (GRCm38)	missense	probably damaging	1.00
R8046:Col12a1	UTSW	9	79,706,226 (GRCm38)	critical splice donor site	probably null
R8056:Col12a1	UTSW	9	79,599,938 (GRCm38)	missense
R8151:Col12a1	UTSW	9	79,630,549 (GRCm38)	missense	possibly damaging	0.62
R8203:Col12a1	UTSW	9	79,681,549 (GRCm38)	missense	possibly damaging	0.94
R8221:Col12a1	UTSW	9	79,643,942 (GRCm38)	missense	probably damaging	1.00
R8294:Col12a1	UTSW	9	79,699,312 (GRCm38)	missense	possibly damaging	0.91
R8309:Col12a1	UTSW	9	79,605,183 (GRCm38)	missense	possibly damaging	0.68
R8319:Col12a1	UTSW	9	79,648,697 (GRCm38)	missense	probably damaging	0.97
R8351:Col12a1	UTSW	9	79,681,412 (GRCm38)	missense	probably damaging	0.97
R8442:Col12a1	UTSW	9	79,635,499 (GRCm38)	missense	probably damaging	1.00
R8500:Col12a1	UTSW	9	79,609,851 (GRCm38)	missense	probably damaging	1.00
R8682:Col12a1	UTSW	9	79,661,076 (GRCm38)	missense	probably benign	0.03
R8700:Col12a1	UTSW	9	79,620,089 (GRCm38)	missense	probably benign	0.09
R8859:Col12a1	UTSW	9	79,680,399 (GRCm38)	nonsense	probably null
R8898:Col12a1	UTSW	9	79,692,295 (GRCm38)	missense	probably benign	0.08
R8930:Col12a1	UTSW	9	79,673,383 (GRCm38)	missense	probably benign
R8932:Col12a1	UTSW	9	79,673,383 (GRCm38)	missense	probably benign
R8949:Col12a1	UTSW	9	79,674,688 (GRCm38)	missense	probably benign	0.17
R8962:Col12a1	UTSW	9	79,631,619 (GRCm38)	missense	probably damaging	1.00
R9045:Col12a1	UTSW	9	79,674,752 (GRCm38)	missense	probably benign	0.00
R9080:Col12a1	UTSW	9	79,609,851 (GRCm38)	missense	probably benign	0.06
R9145:Col12a1	UTSW	9	79,620,062 (GRCm38)	missense	probably benign	0.16
R9163:Col12a1	UTSW	9	79,641,447 (GRCm38)	critical splice donor site	probably null
R9168:Col12a1	UTSW	9	79,641,501 (GRCm38)	nonsense	probably null
R9188:Col12a1	UTSW	9	79,602,332 (GRCm38)	missense	probably benign	0.22
R9258:Col12a1	UTSW	9	79,706,363 (GRCm38)	missense	probably benign	0.04
R9292:Col12a1	UTSW	9	79,678,523 (GRCm38)	missense	probably benign	0.33
R9345:Col12a1	UTSW	9	79,633,735 (GRCm38)	missense	probably benign	0.08
R9382:Col12a1	UTSW	9	79,682,082 (GRCm38)	missense	probably benign	0.23
R9427:Col12a1	UTSW	9	79,682,163 (GRCm38)	missense	probably benign	0.15
R9601:Col12a1	UTSW	9	79,617,752 (GRCm38)	missense	probably damaging	0.98
R9653:Col12a1	UTSW	9	79,677,274 (GRCm38)	missense	probably benign
R9668:Col12a1	UTSW	9	79,639,678 (GRCm38)	nonsense	probably null
R9762:Col12a1	UTSW	9	79,619,984 (GRCm38)	missense	possibly damaging	0.82
X0021:Col12a1	UTSW	9	79,608,485 (GRCm38)	missense	probably damaging	1.00
X0058:Col12a1	UTSW	9	79,602,224 (GRCm38)	missense	possibly damaging	0.66
X0061:Col12a1	UTSW	9	79,612,392 (GRCm38)	splice site	probably null
Z1177:Col12a1	UTSW	9	79,599,986 (GRCm38)	missense	possibly damaging	0.80
Z1177:Col12a1	UTSW	9	79,639,696 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- TCAGTCATGCACTCCAGAGG -3'
(R):5'- CCCAGTGGTATGTAGCTCTCTTG -3'

Sequencing Primer
(F):5'- TCCAGAGGGAGAGTCAGCTAAATTC -3'
(R):5'- TCTTGATTTTCCTGGGAATTATACAG -3'

Posted On

2019-10-07