Mutagenetix > Incidental Mutation

Incidental Mutation 'R8720:Col3a1'

670051

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

068571-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.790) question?

Stock #

R8720 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45350698-45388866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45386893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 1368 (Y1368C)

Ref Sequence

ENSEMBL: ENSMUSP00000085192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087883] [ENSMUST00000186021]

AlphaFold

P08121

Predicted Effect

unknown
Transcript: ENSMUST00000087883
AA Change: Y1368C

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: Y1368C

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 damaging
Transcript: ENSMUST00000186021
AA Change: Y235C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000139802
Gene: ENSMUSG00000026043
AA Change: Y235C

Domain	Start	End	E-Value	Type
Pfam:Collagen	3	62	1.5e-11	PFAM
COLFI	96	244	7.9e-68	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh3a1	T	C	11: 61,104,305 (GRCm39)	V64A	probably benign	Het
Anln	T	C	9: 22,284,573 (GRCm39)	H379R	probably benign	Het
Asb2	A	G	12: 103,291,680 (GRCm39)	Y416H	probably damaging	Het
Atp2b4	TTCTTC	TTCTTCGTCTTC	1: 133,629,465 (GRCm39)		probably benign	Het
Chsy1	T	A	7: 65,821,088 (GRCm39)	M441K	possibly damaging	Het
Cmas	A	G	6: 142,716,929 (GRCm39)	K274E	probably damaging	Het
Cmip	A	G	8: 118,138,010 (GRCm39)	Y75C	probably damaging	Het
Col17a1	T	A	19: 47,637,531 (GRCm39)		probably benign	Het
Cracdl	A	G	1: 37,652,522 (GRCm39)	F1095S	possibly damaging	Het
Cspg4	C	T	9: 56,794,797 (GRCm39)	T844I	probably benign	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Ect2	A	T	3: 27,169,647 (GRCm39)	N766K	probably damaging	Het
Fanci	C	A	7: 79,089,425 (GRCm39)	Q954K	possibly damaging	Het
Gm30083	A	G	14: 33,736,895 (GRCm39)	S21P	probably benign	Het
Gulo	C	T	14: 66,225,074 (GRCm39)	E422K	probably benign	Het
Helq	A	G	5: 100,914,561 (GRCm39)	V977A	probably damaging	Het
Herc1	A	G	9: 66,389,105 (GRCm39)	D3874G	probably benign	Het
Hsf4	G	T	8: 105,996,605 (GRCm39)	D34Y	probably damaging	Het
Il18	G	A	9: 50,476,684 (GRCm39)		probably benign	Het
Il22ra2	A	T	10: 19,508,599 (GRCm39)	E209V	probably damaging	Het
Ino80	A	T	2: 119,232,868 (GRCm39)	L1150Q	probably damaging	Het
Kif16b	A	G	2: 142,691,792 (GRCm39)	F231L	probably damaging	Het
Krtap19-4	A	G	16: 88,681,846 (GRCm39)	Y37H	unknown	Het
Lama4	A	T	10: 38,971,079 (GRCm39)	D1548V	probably damaging	Het
Lrig2	C	T	3: 104,418,998 (GRCm39)	A4T	probably damaging	Het
Lrp4	A	T	2: 91,324,459 (GRCm39)	I1265F	probably damaging	Het
Muc16	T	A	9: 18,552,896 (GRCm39)	T4466S	probably benign	Het
Myo1e	A	G	9: 70,204,570 (GRCm39)	I57V	possibly damaging	Het
Naip2	A	T	13: 100,298,630 (GRCm39)	Y469N	probably benign	Het
Nav1	G	A	1: 135,388,464 (GRCm39)	R1065C	unknown	Het
Nps	C	T	7: 134,874,045 (GRCm39)	R72C	probably damaging	Het
Nup210l	G	A	3: 90,117,681 (GRCm39)	V1796I	probably benign	Het
Pdzd7	T	C	19: 45,024,667 (GRCm39)	K451E	probably benign	Het
Pigv	A	T	4: 133,392,968 (GRCm39)	D67E	probably damaging	Het
Pik3cg	A	T	12: 32,243,688 (GRCm39)	F928I	probably benign	Het
Pkn3	A	G	2: 29,975,196 (GRCm39)	N486D	probably benign	Het
Ppp2r3d	A	G	9: 101,089,084 (GRCm39)	L413P	probably damaging	Het
Rbm45	G	T	2: 76,210,711 (GRCm39)	R414L	probably damaging	Het
Sap30l	A	T	11: 57,698,875 (GRCm39)	N116I	probably damaging	Het
Slc17a5	A	T	9: 78,485,945 (GRCm39)	F47I	probably damaging	Het
Slco1a7	A	T	6: 141,668,852 (GRCm39)	S527T	probably benign	Het
Srbd1	A	T	17: 86,358,571 (GRCm39)	D659E	probably damaging	Het
Sycp3	A	G	10: 88,298,394 (GRCm39)	Q40R	probably benign	Het
Trip13	T	C	13: 74,063,590 (GRCm39)	S374G	probably benign	Het
Ubr4	T	C	4: 139,208,149 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,090,715 (GRCm39)	V449I	probably benign	Het
Vmn1r211	A	T	13: 23,036,031 (GRCm39)	V212D	probably damaging	Het
Vmn2r111	T	A	17: 22,792,194 (GRCm39)	I21F	possibly damaging	Het
Zmiz2	A	T	11: 6,349,904 (GRCm39)	I491F	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
R1937:Col3a1	UTSW	1	45,373,453 (GRCm39)	unclassified	probably benign
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
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'- CACAGTGTCAGTGCTAATGGTG -3'
(R):5'- CTGCTTCTCAAAACAGCTTGGATG -3'

Sequencing Primer
(F):5'- GGTGTATGAATGAATCACTTACTCC -3'
(R):5'- GAGTTTATTTGCCATCCTATCTGAAG -3'

Posted On

2021-04-30