Mutagenetix > Incidental Mutation

Incidental Mutation 'R2093:Col3a1'

231887

Institutional Source

Beutler Lab

Gene Symbol

Col3a1

Ensembl Gene

ENSMUSG00000026043

Gene Name

collagen, type III, alpha 1

Synonyms

Tsk-2, Tsk2, Col3a-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R2093 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45350698-45388866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45372150 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 493 (A493V)

Ref Sequence

ENSEMBL: ENSMUSP00000085192 (fasta)

Gene Model

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

AlphaFold

P08121

Predicted Effect

probably damaging
Transcript: ENSMUST00000087883
AA Change: A493V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: A493V

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

noncoding transcript
Transcript: ENSMUST00000123204

Predicted Effect

probably benign
Transcript: ENSMUST00000185687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190943

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	A	G	1: 130,671,041 (GRCm39)	D421G	probably benign	Het
Adamts1	T	G	16: 85,599,333 (GRCm39)	Q89P	probably benign	Het
Arhgef10l	T	G	4: 140,297,601 (GRCm39)	N277T	possibly damaging	Het
Atp2c1	G	A	9: 105,295,320 (GRCm39)	R669*	probably null	Het
Brip1	T	C	11: 86,029,971 (GRCm39)	T558A	possibly damaging	Het
Cbr2	G	A	11: 120,621,255 (GRCm39)	T148I	probably benign	Het
Ccdc110	C	A	8: 46,395,114 (GRCm39)	T335K	probably damaging	Het
Cd44	T	G	2: 102,644,629 (GRCm39)	D731A	probably damaging	Het
Cnot1	T	C	8: 96,501,986 (GRCm39)	D44G	probably damaging	Het
Cnrip1	T	C	11: 17,002,237 (GRCm39)	V23A	probably damaging	Het
Cntnap5c	A	T	17: 58,505,995 (GRCm39)	H673L	probably benign	Het
Crem	A	T	18: 3,299,256 (GRCm39)	V19E	probably damaging	Het
Cyp2g1	A	G	7: 26,518,858 (GRCm39)	D418G	probably benign	Het
Dmrta1	A	T	4: 89,579,742 (GRCm39)	H234L	probably benign	Het
Drc3	C	T	11: 60,261,310 (GRCm39)	R154W	probably damaging	Het
Drgx	C	T	14: 32,369,112 (GRCm39)		probably benign	Het
Eef1d	A	G	15: 75,774,550 (GRCm39)	S370P	probably benign	Het
Fdx2	T	C	9: 20,984,720 (GRCm39)	H28R	probably benign	Het
Fmo5	A	G	3: 97,553,194 (GRCm39)	I381V	probably benign	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fras1	T	C	5: 96,929,062 (GRCm39)	L3822P	probably damaging	Het
Gm3604	G	T	13: 62,517,420 (GRCm39)	H313N	possibly damaging	Het
Heatr4	T	C	12: 84,021,855 (GRCm39)	E460G	possibly damaging	Het
Ino80	T	A	2: 119,257,151 (GRCm39)	H834L	possibly damaging	Het
Insr	A	T	8: 3,254,762 (GRCm39)	C331S	probably damaging	Het
Itih4	C	T	14: 30,613,694 (GRCm39)	L304F	probably damaging	Het
Klhdc3	C	T	17: 46,988,879 (GRCm39)	V104I	probably benign	Het
Lrp2	C	T	2: 69,366,365 (GRCm39)	D245N	probably benign	Het
Map1b	T	C	13: 99,566,178 (GRCm39)	E2181G	unknown	Het
Map2	T	C	1: 66,438,599 (GRCm39)	V41A	probably damaging	Het
Mical3	A	T	6: 121,017,347 (GRCm39)	H156Q	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Myo5b	T	A	18: 74,892,263 (GRCm39)	L1669Q	probably damaging	Het
Nme8	G	A	13: 19,835,042 (GRCm39)	S548F	probably damaging	Het
Npas1	A	T	7: 16,193,202 (GRCm39)	N408K	probably benign	Het
Or1j11	A	T	2: 36,311,941 (GRCm39)	Y177F	probably benign	Het
Or8k30	A	C	2: 86,339,587 (GRCm39)	Q261H	probably damaging	Het
Pcnx4	T	C	12: 72,626,216 (GRCm39)	Y1141H	probably damaging	Het
Pmaip1	C	A	18: 66,594,052 (GRCm39)	P64Q	probably damaging	Het
Ranbp3	T	A	17: 57,017,145 (GRCm39)	M387K	probably damaging	Het
Rbm4	A	G	19: 4,837,792 (GRCm39)	Y231H	probably damaging	Het
Rpgrip1l	T	C	8: 91,996,760 (GRCm39)	S105G	possibly damaging	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Rtn3	A	T	19: 7,434,215 (GRCm39)	D573E	probably damaging	Het
Rxrg	T	C	1: 167,454,893 (GRCm39)	C159R	probably damaging	Het
Sdk2	T	C	11: 113,833,948 (GRCm39)	Y78C	probably damaging	Het
Smu1	A	G	4: 40,738,438 (GRCm39)	V432A	probably benign	Het
Spag1	T	C	15: 36,224,276 (GRCm39)	L609P	probably damaging	Het
Spata21	T	G	4: 140,824,277 (GRCm39)	V180G	probably benign	Het
Spata31e2	G	T	1: 26,721,222 (GRCm39)	Y1319*	probably null	Het
Sptlc3	A	T	2: 139,467,794 (GRCm39)	I451F	possibly damaging	Het
Srl	A	G	16: 4,340,896 (GRCm39)	C8R	unknown	Het
Tmprss13	A	G	9: 45,256,340 (GRCm39)	R485G	probably damaging	Het
Trpv4	C	T	5: 114,773,565 (GRCm39)	A266T	probably damaging	Het
Vmn1r198	A	G	13: 22,538,855 (GRCm39)	T25A	probably benign	Het
Vmn2r77	T	C	7: 86,450,702 (GRCm39)	V196A	probably benign	Het
Vmn2r82	C	T	10: 79,231,813 (GRCm39)	T604I	probably benign	Het
Zfp268	C	A	4: 145,349,139 (GRCm39)	T192N	probably benign	Het
Zfp354a	C	T	11: 50,960,551 (GRCm39)	T254I	probably 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
R1937:Col3a1	UTSW	1	45,373,453 (GRCm39)	unclassified	probably benign
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'- TATAAATTGTGAACCACCCGCC -3'
(R):5'- TAGGGGCTAGAGTCACATGG -3'

Sequencing Primer
(F):5'- CTAGGAACTGACCCCATGATGTG -3'
(R):5'- GGCTAGAGTCACATGGTGATG -3'

Posted On

2014-09-18