Mutagenetix > Incidental Mutation

Incidental Mutation 'R5407:Col3a1'

426308

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 #

R5407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45350698-45388866 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45385212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 110 (I110L)

Ref Sequence

ENSEMBL: ENSMUSP00000139802 (fasta)

Gene Model

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

AlphaFold

P08121

Predicted Effect

unknown
Transcript: ENSMUST00000087883
AA Change: I1243L

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: I1243L

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: ENSMUST00000186021
AA Change: I110L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139802
Gene: ENSMUSG00000026043
AA Change: I110L

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,396,895 (GRCm39)	K279R	probably benign	Het
Aldoart2	A	C	12: 55,612,981 (GRCm39)	Y302S	probably damaging	Het
Arpp21	G	T	9: 111,945,821 (GRCm39)		probably benign	Het
Camk1g	C	T	1: 193,029,680 (GRCm39)		probably null	Het
Cand2	G	A	6: 115,762,161 (GRCm39)	V196I	possibly damaging	Het
Cdc25b	T	A	2: 131,035,567 (GRCm39)	L381Q	probably damaging	Het
Col17a1	C	T	19: 47,654,946 (GRCm39)	G610E	probably damaging	Het
Col19a1	C	T	1: 24,342,575 (GRCm39)	E797K	probably damaging	Het
Col5a2	T	A	1: 45,445,440 (GRCm39)	D506V	possibly damaging	Het
Crp	A	T	1: 172,525,676 (GRCm39)		probably null	Het
Esco1	G	T	18: 10,574,886 (GRCm39)	H729N	probably damaging	Het
Evx2	A	G	2: 74,488,170 (GRCm39)	S217P	probably damaging	Het
Gabrb1	T	C	5: 72,279,364 (GRCm39)	V303A	possibly damaging	Het
Gcnt3	A	G	9: 69,941,471 (GRCm39)	Y366H	probably benign	Het
Gmpr2	A	G	14: 55,915,733 (GRCm39)	T304A	possibly damaging	Het
Golga3	C	T	5: 110,349,856 (GRCm39)	Q656*	probably null	Het
Gramd1b	T	A	9: 40,366,951 (GRCm39)	M6L	probably damaging	Het
Kif17	T	C	4: 138,025,532 (GRCm39)	Y945H	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lrrk1	T	A	7: 65,920,545 (GRCm39)	Q1486L	probably benign	Het
Mboat7	G	T	7: 3,694,380 (GRCm39)	H72N	probably damaging	Het
Med12l	G	A	3: 59,165,622 (GRCm39)	V1447M	probably damaging	Het
Mrpl3	T	C	9: 104,954,294 (GRCm39)	F333L	probably benign	Het
Nav3	T	C	10: 109,702,796 (GRCm39)	T246A	probably benign	Het
Neil3	A	T	8: 54,054,054 (GRCm39)	V325E	probably benign	Het
Nlrp4g	A	T	9: 124,349,930 (GRCm38)		noncoding transcript	Het
Onecut1	C	T	9: 74,796,738 (GRCm39)	S419F	probably damaging	Het
Or10n1	A	T	9: 39,524,991 (GRCm39)	I43F	probably damaging	Het
Ptp4a1	A	T	1: 30,984,044 (GRCm39)	V58E	probably benign	Het
Radil	C	T	5: 142,493,970 (GRCm39)	R49H	probably damaging	Het
Ralgapa1	T	C	12: 55,723,582 (GRCm39)	E1648G	possibly damaging	Het
Rnft2	C	T	5: 118,380,567 (GRCm39)	M13I	probably damaging	Het
Satb2	A	G	1: 56,987,309 (GRCm39)	L92P	probably damaging	Het
Scn4a	T	C	11: 106,211,715 (GRCm39)	Y1434C	probably damaging	Het
Setx	T	A	2: 29,035,486 (GRCm39)	M657K	probably benign	Het
Shd	A	G	17: 56,280,936 (GRCm39)	E204G	probably damaging	Het
Shh	T	A	5: 28,671,578 (GRCm39)	R62*	probably null	Het
Slc9a4	A	G	1: 40,646,954 (GRCm39)	T483A	probably benign	Het
Tbc1d7	A	C	13: 43,308,178 (GRCm39)	S96A	probably benign	Het
Tfcp2	T	C	15: 100,425,755 (GRCm39)		probably null	Het
Tlk2	T	A	11: 105,131,201 (GRCm39)	S182R	probably damaging	Het
Tppp2	A	G	14: 52,156,955 (GRCm39)		probably null	Het
Trim65	T	C	11: 116,016,906 (GRCm39)	T519A	probably benign	Het
Trio	T	C	15: 27,844,892 (GRCm39)		probably null	Het
Usf3	G	A	16: 44,037,769 (GRCm39)	V750I	probably benign	Het
Utrn	T	A	10: 12,556,369 (GRCm39)	K1480N	probably damaging	Het
Vmn1r58	T	A	7: 5,413,872 (GRCm39)	R119S	probably benign	Het
Xirp2	A	G	2: 67,341,313 (GRCm39)	I1185V	probably benign	Het
Zc3h7b	A	G	15: 81,670,092 (GRCm39)	H654R	probably damaging	Het
Zfyve16	G	T	13: 92,636,792 (GRCm39)	A1306E	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
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
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'- ACTTATCTAGGGCTCGCCAG -3'
(R):5'- ACCTTCAATGCTCCTTCAAACATTG -3'

Sequencing Primer
(F):5'- TGGACAGCCAGGACCCC -3'
(R):5'- CAATGTTTTGATAGTACAGGAGCTTC -3'

Posted On

2016-09-01