Mutagenetix > Incidental Mutation

Incidental Mutation 'R1937:Col3a1'

213490

Institutional Source

Beutler Lab

Gene Symbol

Col3a1

Ensembl Gene

ENSMUSG00000026043

Gene Name

collagen, type III, alpha 1

Synonyms

Tsk-2, Tsk2, Col3a-1

MMRRC Submission

039955-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.766) question?

Stock #

R1937 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45350698-45388866 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 45373453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087883]

AlphaFold

P08121

Predicted Effect

unknown
Transcript: ENSMUST00000087883
AA Change: P580L

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: P580L

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWC	33	89	2.73e-20	SMART
low complexity region	100	140	N/A	INTRINSIC
low complexity region	163	227	N/A	INTRINSIC
low complexity region	230	248	N/A	INTRINSIC
internal_repeat_2	249	284	3.45e-13	PROSPERO
internal_repeat_1	250	290	1.9e-17	PROSPERO
Pfam:Collagen	293	366	7.3e-9	PFAM
low complexity region	368	419	N/A	INTRINSIC
internal_repeat_4	423	476	2.52e-11	PROSPERO
internal_repeat_1	427	488	1.9e-17	PROSPERO
internal_repeat_3	427	491	7.39e-12	PROSPERO
internal_repeat_2	456	491	3.45e-13	PROSPERO
Pfam:Collagen	533	592	2.6e-11	PFAM
low complexity region	632	680	N/A	INTRINSIC
low complexity region	683	776	N/A	INTRINSIC
low complexity region	784	815	N/A	INTRINSIC
low complexity region	818	855	N/A	INTRINSIC
low complexity region	865	921	N/A	INTRINSIC
low complexity region	925	950	N/A	INTRINSIC
low complexity region	953	974	N/A	INTRINSIC
internal_repeat_4	975	1028	2.52e-11	PROSPERO
internal_repeat_3	976	1029	7.39e-12	PROSPERO
internal_repeat_5	977	991	3.33e-5	PROSPERO
internal_repeat_5	1019	1033	3.33e-5	PROSPERO
low complexity region	1037	1058	N/A	INTRINSIC
Pfam:Collagen	1076	1135	5.6e-13	PFAM
Pfam:Collagen	1136	1209	4.3e-11	PFAM
COLFI	1229	1464	5.73e-166	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000185687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190943

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.7%
20x: 93.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of the fibril-forming type III collagen found in bone, cartilage, dentin, tendon, bone marrow stroma and other connective tissue. The encoded protein forms homotrimeric type III procollagen that undergoes proteolytic processing during fibril formation. A majority of mice lacking the encoded protein die within two days of birth but about 5% of the animals survive to adulthood. The surviving mice exhibit severe cortical malformation and experience significantly shorter lifespan. The mutant mouse named "tight skin 2" exhibiting systemic sclerosis phenotype was found to harbor a missense point mutation in this gene. A pseudogene of this gene has been defined on chromosome 8. [provided by RefSeq, Nov 2015]
PHENOTYPE: Most homozygous mutants die within 48 hours after birth. Surviving mutants have reduced body size, skin lesions, enlarged intestines, and die by 6 months of age from ruptured blood vessels. Occasionally intestinal rupture also results in early death. Heterozygotes exhibit tight skin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	C	A	5: 48,531,777 (GRCm39)	T35K	probably benign	Het
Abhd14a	A	G	9: 106,317,446 (GRCm39)		probably benign	Het
Abhd8	A	G	8: 71,914,506 (GRCm39)	F41L	possibly damaging	Het
Ace2	A	T	X: 162,939,524 (GRCm39)	M123L	possibly damaging	Het
Actr5	T	C	2: 158,477,949 (GRCm39)	Y440H	possibly damaging	Het
Akr1c6	T	A	13: 4,496,383 (GRCm39)	N81K	probably benign	Het
Aqp11	T	A	7: 97,386,725 (GRCm39)	N157I	possibly damaging	Het
Arhgap10	T	C	8: 78,071,282 (GRCm39)	E568G	probably damaging	Het
Asb7	T	A	7: 66,329,001 (GRCm39)	Q13L	probably benign	Het
Atf7ip	C	A	6: 136,537,778 (GRCm39)	A345E	probably benign	Het
Atp8a2	T	C	14: 60,097,719 (GRCm39)	K770E	probably benign	Het
Bpifb4	A	T	2: 153,785,996 (GRCm39)	I259F	probably damaging	Het
Cand1	A	T	10: 119,038,925 (GRCm39)	D1218E	probably damaging	Het
Capg	A	G	6: 72,535,236 (GRCm39)		probably null	Het
Cep290	C	T	10: 100,333,815 (GRCm39)	T289M	possibly damaging	Het
Cfap69	T	C	5: 5,643,818 (GRCm39)	Y548C	probably damaging	Het
Cfap97d1	A	T	11: 101,877,989 (GRCm39)	H17L	probably damaging	Het
Cimip2b	T	A	4: 43,427,586 (GRCm39)	K220N	probably damaging	Het
Clock	A	G	5: 76,377,340 (GRCm39)	L652P	probably damaging	Het
Coro7	T	C	16: 4,446,596 (GRCm39)	E843G	probably benign	Het
Crebrf	T	C	17: 26,961,442 (GRCm39)	S188P	probably damaging	Het
Crppa	G	A	12: 36,440,367 (GRCm39)	V92I	probably benign	Het
Cul1	T	C	6: 47,485,289 (GRCm39)	F307L	probably benign	Het
Cyb561d2	G	A	9: 107,417,515 (GRCm39)	R79W	probably damaging	Het
Cyp3a59	T	C	5: 146,031,187 (GRCm39)	S117P	possibly damaging	Het
Ddias	A	G	7: 92,507,830 (GRCm39)	I695T	probably benign	Het
Dhx29	G	A	13: 113,101,864 (GRCm39)	G1311D	probably benign	Het
Dync2h1	A	G	9: 7,139,159 (GRCm39)		probably null	Het
Ece2	T	A	16: 20,436,616 (GRCm39)	V146E	probably damaging	Het
Eml2	A	G	7: 18,937,889 (GRCm39)	K586E	possibly damaging	Het
Eps8l3	A	G	3: 107,791,708 (GRCm39)	E316G	probably benign	Het
Fam135b	A	T	15: 71,493,863 (GRCm39)	L22H	probably damaging	Het
Focad	T	A	4: 88,319,318 (GRCm39)	M1K	probably null	Het
Fryl	A	G	5: 73,290,710 (GRCm39)	S65P	probably damaging	Het
Gm14190	C	T	11: 99,581,556 (GRCm39)	C4Y	unknown	Het
H2-T5	T	A	17: 36,478,899 (GRCm39)	T117S	probably damaging	Het
Ift74	T	A	4: 94,550,883 (GRCm39)	M345K	probably benign	Het
Jag1	C	G	2: 136,925,393 (GRCm39)	V1070L	possibly damaging	Het
Kcng1	T	C	2: 168,104,941 (GRCm39)	T302A	probably benign	Het
Kif20b	T	C	19: 34,930,278 (GRCm39)	V1221A	possibly damaging	Het
Kif23	A	T	9: 61,853,892 (GRCm39)		probably null	Het
Lpxn	T	G	19: 12,802,274 (GRCm39)	S200A	probably benign	Het
Meiob	A	G	17: 25,037,305 (GRCm39)	H61R	probably benign	Het
Mfhas1	C	T	8: 36,056,799 (GRCm39)	L425F	probably damaging	Het
Myo3a	A	T	2: 22,401,126 (GRCm39)	S632C	probably damaging	Het
Naip2	T	C	13: 100,298,362 (GRCm39)	E558G	probably benign	Het
Naip2	C	T	13: 100,298,368 (GRCm39)	G556D	probably benign	Het
Nbeal1	T	A	1: 60,307,100 (GRCm39)	Y374*	probably null	Het
Notch3	T	C	17: 32,372,826 (GRCm39)	S582G	probably benign	Het
Nphs1	A	T	7: 30,173,798 (GRCm39)	Q985L	probably damaging	Het
Oas1c	T	A	5: 120,941,049 (GRCm39)	H248L	probably benign	Het
Or5c1	A	T	2: 37,221,896 (GRCm39)	N46Y	probably damaging	Het
Or5g26	T	C	2: 85,494,341 (GRCm39)	I146V	probably benign	Het
Or5h25	A	T	16: 58,930,157 (GRCm39)	M272K	probably benign	Het
Or8g35	A	G	9: 39,381,333 (GRCm39)	S230P	possibly damaging	Het
Pamr1	A	T	2: 102,472,617 (GRCm39)	I639F	possibly damaging	Het
Panx1	G	T	9: 14,918,980 (GRCm39)	T293K	possibly damaging	Het
Papss1	G	T	3: 131,305,632 (GRCm39)	V226F	probably benign	Het
Pax1	G	T	2: 147,209,809 (GRCm39)	G301V	possibly damaging	Het
Pdlim5	C	A	3: 141,950,742 (GRCm39)	R557L	possibly damaging	Het
Pdyn	C	A	2: 129,531,729 (GRCm39)	M20I	probably benign	Het
Pelp1	G	A	11: 70,284,541 (GRCm39)		probably null	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Pkdrej	A	G	15: 85,703,368 (GRCm39)	I856T	probably benign	Het
Polr1a	T	C	6: 71,913,536 (GRCm39)		probably null	Het
Pot1a	A	T	6: 25,753,323 (GRCm39)	D404E	probably benign	Het
Ppp2r2a	A	T	14: 67,253,878 (GRCm39)	I430N	possibly damaging	Het
Prob1	C	T	18: 35,787,279 (GRCm39)	R325Q	possibly damaging	Het
Prrc2a	T	C	17: 35,376,884 (GRCm39)	D742G	probably damaging	Het
Psmc1	C	T	12: 100,081,102 (GRCm39)	P54S	probably benign	Het
Rab22a	A	G	2: 173,530,004 (GRCm39)	T61A	probably damaging	Het
Rims1	T	A	1: 22,358,754 (GRCm39)	K184N	probably damaging	Het
Rnf213	G	A	11: 119,322,511 (GRCm39)	R1376H	probably damaging	Het
Ryr2	T	C	13: 11,683,848 (GRCm39)	E3072G	probably damaging	Het
Serpina1b	T	C	12: 103,698,420 (GRCm39)	K143R	probably benign	Het
Slc22a15	T	G	3: 101,787,505 (GRCm39)		probably null	Het
Slc25a14	G	A	X: 47,740,840 (GRCm39)	V210I	probably benign	Het
Slc25a48	A	C	13: 56,596,811 (GRCm39)	T31P	probably damaging	Het
Slc9a3	C	T	13: 74,314,175 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,805,030 (GRCm39)	*105W	probably null	Het
Smc6	A	G	12: 11,349,399 (GRCm39)	N794S	probably benign	Het
Spata18	G	A	5: 73,834,307 (GRCm39)	R387Q	probably damaging	Het
Sphkap	C	A	1: 83,245,162 (GRCm39)	E1486*	probably null	Het
Srsf6	C	T	2: 162,776,403 (GRCm39)		probably benign	Het
St8sia1	C	T	6: 142,909,398 (GRCm39)	A33T	probably damaging	Het
Tet2	T	C	3: 133,194,399 (GRCm39)	T12A	possibly damaging	Het
Tmem144	G	T	3: 79,732,611 (GRCm39)	S222R	probably damaging	Het
Tnrc6c	A	G	11: 117,646,849 (GRCm39)	D1450G	possibly damaging	Het
Top1	A	T	2: 160,512,042 (GRCm39)	K27N	unknown	Het
Tox2	A	G	2: 163,067,476 (GRCm39)	H30R	probably benign	Het
Tra2b	T	C	16: 22,065,993 (GRCm39)		probably benign	Het
Trio	A	T	15: 27,833,142 (GRCm39)	V1165E	probably damaging	Het
Troap	T	A	15: 98,975,269 (GRCm39)	S145R	probably damaging	Het
Ttc34	G	A	4: 154,950,139 (GRCm39)	A1031T	possibly damaging	Het
Ttc6	C	T	12: 57,663,109 (GRCm39)	P302S	probably benign	Het
Ubiad1	A	G	4: 148,528,468 (GRCm39)	L147P	probably damaging	Het
Ugt2b35	G	T	5: 87,149,141 (GRCm39)	V131F	probably damaging	Het
Utp25	A	T	1: 192,804,401 (GRCm39)	D200E	probably damaging	Het
Vmn1r167	G	A	7: 23,204,452 (GRCm39)	T188I	probably benign	Het
Vmn1r46	G	T	6: 89,953,716 (GRCm39)	M188I	probably benign	Het
Vmn2r115	T	A	17: 23,578,388 (GRCm39)	N620K	probably damaging	Het
Vmn2r66	A	G	7: 84,644,344 (GRCm39)	S689P	probably damaging	Het
Wipf2	C	T	11: 98,783,236 (GRCm39)	R221*	probably null	Het
Zbtb16	T	C	9: 48,571,078 (GRCm39)	S563G	probably benign	Het
Zfp319	T	C	8: 96,055,199 (GRCm39)	T335A	probably damaging	Het
Zfp418	A	G	7: 7,185,401 (GRCm39)	R455G	possibly damaging	Het

Other mutations in Col3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Col3a1	APN	1	45,386,295 (GRCm39)	missense	probably damaging	1.00
IGL00928:Col3a1	APN	1	45,380,018 (GRCm39)	intron	probably benign
IGL00958:Col3a1	APN	1	45,366,755 (GRCm39)	missense	unknown
IGL01353:Col3a1	APN	1	45,372,798 (GRCm39)	unclassified	probably benign
IGL01820:Col3a1	APN	1	45,360,768 (GRCm39)	missense	unknown
IGL01839:Col3a1	APN	1	45,350,990 (GRCm39)	missense	unknown
IGL02517:Col3a1	APN	1	45,364,963 (GRCm39)	critical splice acceptor site	probably null
IGL02879:Col3a1	APN	1	45,380,119 (GRCm39)	intron	probably benign
IGL02960:Col3a1	APN	1	45,367,615 (GRCm39)	missense	unknown
IGL03245:Col3a1	APN	1	45,370,269 (GRCm39)	unclassified	probably benign
IGL03308:Col3a1	APN	1	45,369,777 (GRCm39)	splice site	probably benign
Creation	UTSW	1	45,385,144 (GRCm39)	missense	probably damaging	1.00
Kraken	UTSW	1	45,367,026 (GRCm39)	splice site	probably null
Wealth	UTSW	1	45,379,472 (GRCm39)	splice site	probably benign
IGL03050:Col3a1	UTSW	1	45,368,085 (GRCm39)	splice site	probably null
PIT4520001:Col3a1	UTSW	1	45,374,943 (GRCm39)	critical splice donor site	probably null
R0063:Col3a1	UTSW	1	45,369,701 (GRCm39)	splice site	probably benign
R0122:Col3a1	UTSW	1	45,380,057 (GRCm39)	intron	probably benign
R0131:Col3a1	UTSW	1	45,368,028 (GRCm39)	splice site	probably benign
R0762:Col3a1	UTSW	1	45,360,686 (GRCm39)	missense	unknown
R0765:Col3a1	UTSW	1	45,375,811 (GRCm39)	unclassified	probably benign
R0853:Col3a1	UTSW	1	45,382,484 (GRCm39)	intron	probably benign
R0898:Col3a1	UTSW	1	45,373,153 (GRCm39)	unclassified	probably benign
R1170:Col3a1	UTSW	1	45,386,884 (GRCm39)	missense	probably damaging	1.00
R1170:Col3a1	UTSW	1	45,366,761 (GRCm39)	missense	unknown
R1440:Col3a1	UTSW	1	45,382,472 (GRCm39)	splice site	probably null
R1449:Col3a1	UTSW	1	45,360,771 (GRCm39)	missense	unknown
R1526:Col3a1	UTSW	1	45,360,848 (GRCm39)	missense	unknown
R1572:Col3a1	UTSW	1	45,385,128 (GRCm39)	missense	possibly damaging	0.95
R1585:Col3a1	UTSW	1	45,367,026 (GRCm39)	splice site	probably null
R1616:Col3a1	UTSW	1	45,367,648 (GRCm39)	critical splice donor site	probably null
R1691:Col3a1	UTSW	1	45,387,776 (GRCm39)	unclassified	probably benign
R1876:Col3a1	UTSW	1	45,381,395 (GRCm39)	splice site	probably null
R2093:Col3a1	UTSW	1	45,372,150 (GRCm39)	missense	probably damaging	1.00
R2110:Col3a1	UTSW	1	45,369,305 (GRCm39)	missense	unknown
R2119:Col3a1	UTSW	1	45,385,281 (GRCm39)	missense	probably damaging	1.00
R2256:Col3a1	UTSW	1	45,360,792 (GRCm39)	missense	unknown
R2327:Col3a1	UTSW	1	45,377,771 (GRCm39)	unclassified	probably benign
R2518:Col3a1	UTSW	1	45,376,672 (GRCm39)	unclassified	probably benign
R2991:Col3a1	UTSW	1	45,374,939 (GRCm39)	unclassified	probably benign
R3405:Col3a1	UTSW	1	45,377,913 (GRCm39)	unclassified	probably benign
R3784:Col3a1	UTSW	1	45,386,295 (GRCm39)	missense	probably damaging	1.00
R3847:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R3848:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R3849:Col3a1	UTSW	1	45,361,150 (GRCm39)	missense	unknown
R4502:Col3a1	UTSW	1	45,387,837 (GRCm39)	unclassified	probably benign
R4503:Col3a1	UTSW	1	45,387,837 (GRCm39)	unclassified	probably benign
R4764:Col3a1	UTSW	1	45,385,270 (GRCm39)	missense	probably damaging	1.00
R4839:Col3a1	UTSW	1	45,362,963 (GRCm39)	splice site	probably null
R4934:Col3a1	UTSW	1	45,379,112 (GRCm39)	unclassified	probably benign
R5033:Col3a1	UTSW	1	45,385,270 (GRCm39)	missense	probably damaging	1.00
R5123:Col3a1	UTSW	1	45,372,756 (GRCm39)	unclassified	probably benign
R5190:Col3a1	UTSW	1	45,383,967 (GRCm39)	intron	probably benign
R5190:Col3a1	UTSW	1	45,368,244 (GRCm39)	missense	unknown
R5375:Col3a1	UTSW	1	45,387,059 (GRCm39)	splice site	probably null
R5407:Col3a1	UTSW	1	45,385,212 (GRCm39)	missense	probably benign	0.03
R5627:Col3a1	UTSW	1	45,370,720 (GRCm39)	unclassified	probably benign
R5642:Col3a1	UTSW	1	45,370,872 (GRCm39)	unclassified	probably benign
R6014:Col3a1	UTSW	1	45,360,739 (GRCm39)	nonsense	probably null
R6052:Col3a1	UTSW	1	45,384,173 (GRCm39)	unclassified	probably benign
R6263:Col3a1	UTSW	1	45,360,735 (GRCm39)	missense	unknown
R6453:Col3a1	UTSW	1	45,378,538 (GRCm39)	unclassified	probably benign
R6463:Col3a1	UTSW	1	45,381,365 (GRCm39)	intron	probably benign
R6488:Col3a1	UTSW	1	45,370,694 (GRCm39)	unclassified	probably benign
R6525:Col3a1	UTSW	1	45,386,339 (GRCm39)	missense	possibly damaging	0.88
R6637:Col3a1	UTSW	1	45,386,890 (GRCm39)	missense	probably damaging	1.00
R6704:Col3a1	UTSW	1	45,386,892 (GRCm39)	missense	probably damaging	1.00
R6744:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6745:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6747:Col3a1	UTSW	1	45,377,782 (GRCm39)	unclassified	probably benign
R6858:Col3a1	UTSW	1	45,385,144 (GRCm39)	missense	probably damaging	1.00
R6903:Col3a1	UTSW	1	45,371,148 (GRCm39)	missense	probably damaging	0.96
R7189:Col3a1	UTSW	1	45,372,817 (GRCm39)	missense	unknown
R7194:Col3a1	UTSW	1	45,370,860 (GRCm39)	missense	unknown
R7199:Col3a1	UTSW	1	45,371,301 (GRCm39)	missense	probably null	0.99
R7204:Col3a1	UTSW	1	45,361,578 (GRCm39)	missense	unknown
R7304:Col3a1	UTSW	1	45,386,971 (GRCm39)	missense	unknown
R7378:Col3a1	UTSW	1	45,366,807 (GRCm39)	splice site	probably null
R7398:Col3a1	UTSW	1	45,366,973 (GRCm39)	missense	unknown
R7742:Col3a1	UTSW	1	45,384,161 (GRCm39)	missense	unknown
R8072:Col3a1	UTSW	1	45,360,734 (GRCm39)	missense	unknown
R8177:Col3a1	UTSW	1	45,374,924 (GRCm39)	missense	unknown
R8183:Col3a1	UTSW	1	45,373,970 (GRCm39)	missense	unknown
R8445:Col3a1	UTSW	1	45,380,340 (GRCm39)	nonsense	probably null
R8490:Col3a1	UTSW	1	45,385,116 (GRCm39)	missense	probably benign	0.01
R8546:Col3a1	UTSW	1	45,380,099 (GRCm39)	intron	probably benign
R8720:Col3a1	UTSW	1	45,386,893 (GRCm39)	missense	unknown
R8733:Col3a1	UTSW	1	45,379,472 (GRCm39)	splice site	probably benign
R8888:Col3a1	UTSW	1	45,379,139 (GRCm39)	missense	unknown
R9227:Col3a1	UTSW	1	45,383,138 (GRCm39)	missense	unknown
R9230:Col3a1	UTSW	1	45,383,138 (GRCm39)	missense	unknown
R9302:Col3a1	UTSW	1	45,350,980 (GRCm39)	nonsense	probably null
R9366:Col3a1	UTSW	1	45,380,391 (GRCm39)	missense	unknown
R9653:Col3a1	UTSW	1	45,360,728 (GRCm39)	missense	unknown
R9677:Col3a1	UTSW	1	45,369,727 (GRCm39)	missense	unknown
Z1177:Col3a1	UTSW	1	45,350,960 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGATGGAAAACCAGGACCTCC -3'
(R):5'- TCCTGCTACACATGCAAAGC -3'

Sequencing Primer
(F):5'- AGGACCTCCTGTATGTACAATTATG -3'
(R):5'- ACACCCATTGCCAACTATATATTTG -3'

Posted On

2014-07-14