Mutagenetix > Incidental Mutations

Incidental Mutation 'R5642:Col3a1'

440703

Institutional Source

Beutler Lab

Gene Symbol

Col3a1

Ensembl Gene

ENSMUSG00000026043

Gene Name

collagen, type III, alpha 1

Synonyms

Col3a-1

MMRRC Submission

043290-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R5642 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45311538-45349706 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 45331712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

P08121

Predicted Effect

unknown
Transcript: ENSMUST00000087883
AA Change: I409K

SMART Domains

Protein: ENSMUSP00000085192
Gene: ENSMUSG00000026043
AA Change: I409K

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: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.8%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	T	C	4: 42,971,831	L388P	possibly damaging	Het
4930432K21Rik	C	T	8: 84,167,485	T427I	probably damaging	Het
4932415D10Rik	T	A	10: 82,284,483	Q4231L	probably damaging	Het
Abcc1	A	G	16: 14,443,455	E699G	probably damaging	Het
Ap4e1	T	A	2: 127,064,979	V1053D	possibly damaging	Het
Apobec1	T	A	6: 122,581,497	I100F	probably damaging	Het
Atp6v1g3	G	T	1: 138,283,742	K53N	probably damaging	Het
Bag3	C	T	7: 128,546,106	R482W	probably damaging	Het
Cacna1i	A	G	15: 80,395,078	T2007A	possibly damaging	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdadc1	T	A	14: 59,589,923	I100F	possibly damaging	Het
Cdh16	A	G	8: 104,618,045	F485L	probably damaging	Het
Cdhr5	T	A	7: 141,269,197	K817*	probably null	Het
Cfap46	G	T	7: 139,678,577	P260Q	probably damaging	Het
Clec11a	C	T	7: 44,306,408	E72K	possibly damaging	Het
Cnr2	C	A	4: 135,916,765	N51K	probably damaging	Het
Cxcr1	G	A	1: 74,191,828	T345M	probably damaging	Het
Cyp2s1	T	C	7: 25,816,319		probably null	Het
Dalrd3	C	T	9: 108,572,290	T474M	probably damaging	Het
Ddit4	C	T	10: 59,951,505	S3N	probably benign	Het
Ddx41	T	C	13: 55,535,895	K108E	possibly damaging	Het
Ece2	A	T	16: 20,643,727	H732L	probably benign	Het
Etv3	T	G	3: 87,536,015	L302R	possibly damaging	Het
Fam135b	A	G	15: 71,462,136	S1070P	probably damaging	Het
Fam160a2	A	T	7: 105,389,882	I50N	probably damaging	Het
Gm11567	T	A	11: 99,879,611	I125N	unknown	Het
Grm3	A	G	5: 9,570,536	L236P	probably benign	Het
Hip1	T	A	5: 135,433,085	R97*	probably null	Het
Hoxa5	T	C	6: 52,204,217	Y45C	probably damaging	Het
Ighg1	T	A	12: 113,329,034	H305L	probably damaging	Het
Inpp5b	T	A	4: 124,782,436	C362S	probably benign	Het
Kif1c	A	G	11: 70,708,447	K391E	probably benign	Het
Klf9	T	C	19: 23,141,882	V43A	probably benign	Het
Krt28	T	A	11: 99,374,494	I116F	probably damaging	Het
Lct	A	T	1: 128,295,232	D1439E	probably damaging	Het
Liph	G	A	16: 21,965,995	T284M	possibly damaging	Het
Lrrc75b	T	C	10: 75,557,221	K98R	possibly damaging	Het
Lypd4	T	C	7: 24,865,179	Q178R	probably benign	Het
Map1a	T	A	2: 121,306,043	S2209T	probably damaging	Het
Map3k21	C	T	8: 125,938,824	T584I	probably benign	Het
Map3k6	T	C	4: 133,245,544	V338A	probably damaging	Het
Mapk8ip3	A	T	17: 24,903,311	V699E	possibly damaging	Het
Marc1	A	C	1: 184,810,919	S71A	probably damaging	Het
Nckap1l	T	C	15: 103,455,025	S53P	probably benign	Het
Nt5e	T	C	9: 88,327,687	M1T	probably null	Het
Nudt22	T	C	19: 6,995,528	H64R	probably damaging	Het
Olfr1048	T	C	2: 86,235,932	N294S	probably damaging	Het
Olfr108	A	T	17: 37,445,772	T84S	probably damaging	Het
Olfr198	A	G	16: 59,202,006	L140P	probably damaging	Het
Olfr314	A	T	11: 58,786,828	Y198F	probably damaging	Het
Olfr322	T	C	11: 58,666,399	I280T	possibly damaging	Het
Olfr690	A	T	7: 105,329,565	V209D	probably damaging	Het
Otogl	T	C	10: 107,886,552	I314V	probably benign	Het
Pan2	G	T	10: 128,308,100	E106D	probably benign	Het
Papss1	T	A	3: 131,631,804	Y554*	probably null	Het
Pcnx	T	C	12: 81,895,029	V67A	possibly damaging	Het
Pdpk1	A	C	17: 24,106,855	Y122*	probably null	Het
Pkd1l1	A	T	11: 8,879,202	N1463K	probably damaging	Het
Ptgfrn	C	A	3: 101,043,362	M878I	probably damaging	Het
Ranbp3	G	A	17: 56,710,703	G453E	probably benign	Het
Rapgef2	T	C	3: 79,094,850	D261G	probably damaging	Het
Reep2	A	G	18: 34,846,218	S199G	probably benign	Het
Rnpep	G	A	1: 135,277,521	T202I	probably damaging	Het
Sass6	T	A	3: 116,607,496		probably null	Het
Sema3e	A	G	5: 14,162,243	D111G	probably damaging	Het
Slc29a4	A	G	5: 142,711,972	E60G	probably damaging	Het
Sptlc3	T	C	2: 139,546,408	Y107H	probably damaging	Het
Stx6	T	C	1: 155,198,179	I245T	probably benign	Het
Syne2	T	C	12: 75,918,532	S774P	probably damaging	Het
Tbc1d16	T	A	11: 119,158,791	Q293L	probably damaging	Het
Tbc1d30	T	C	10: 121,296,787	D224G	probably damaging	Het
Tbc1d32	T	A	10: 56,150,877	N759Y	possibly damaging	Het
Tdrd12	G	T	7: 35,511,300	A166E	probably damaging	Het
Tex14	A	G	11: 87,514,220	R653G	probably benign	Het
Them6	A	T	15: 74,721,805	R171W	probably null	Het
Tln2	T	C	9: 67,296,358	T489A	probably benign	Het
Tmem87a	A	G	2: 120,403,946	F39L	probably benign	Het
Toporsl	T	A	4: 52,611,515	C469*	probably null	Het
Tpr	T	C	1: 150,423,818	S1147P	probably damaging	Het
Trp53bp1	T	C	2: 121,236,662	M528V	probably benign	Het
Trpm6	T	A	19: 18,830,207	C1039S	probably damaging	Het
Ttc16	T	A	2: 32,775,336	S5C	probably damaging	Het
Ttn	T	C	2: 76,787,068	Y14607C	probably damaging	Het
Usp6nl	T	C	2: 6,430,464	F345L	probably damaging	Het
Vmn1r205	C	T	13: 22,592,036	G299R	probably benign	Het
Vmn2r74	G	A	7: 85,957,380	H253Y	probably benign	Het
Vps13d	A	T	4: 145,170,302	D343E	possibly damaging	Het
Vwf	A	G	6: 125,603,418	E543G		Het
Wdr92	A	G	11: 17,227,263	N207S	possibly damaging	Het
Zfat	A	T	15: 68,180,916	V343E	probably damaging	Het
Zfp316	T	C	5: 143,264,091	E139G	unknown	Het
Zfp943	T	A	17: 21,992,832	C300S	probably damaging	Het
Zkscan16	A	G	4: 58,957,748	K677E	probably benign	Het

Other mutations in Col3a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Col3a1	APN	1	45347135	missense	probably damaging	1.00
IGL00928:Col3a1	APN	1	45340858	intron	probably benign
IGL00958:Col3a1	APN	1	45327595	missense	unknown
IGL01353:Col3a1	APN	1	45333638	unclassified	probably benign
IGL01820:Col3a1	APN	1	45321608	missense	unknown
IGL01839:Col3a1	APN	1	45311830	missense	unknown
IGL02517:Col3a1	APN	1	45325803	critical splice acceptor site	probably null
IGL02879:Col3a1	APN	1	45340959	intron	probably benign
IGL02960:Col3a1	APN	1	45328455	missense	unknown
IGL03245:Col3a1	APN	1	45331109	unclassified	probably benign
IGL03308:Col3a1	APN	1	45330617	splice site	probably benign
Creation	UTSW	1	45345984	missense	probably damaging	1.00
Kraken	UTSW	1	45327866	splice site	probably null
Wealth	UTSW	1	45340312	splice site	probably benign
IGL03050:Col3a1	UTSW	1	45328925	splice site	probably null
PIT4520001:Col3a1	UTSW	1	45335783	critical splice donor site	probably null
R0063:Col3a1	UTSW	1	45330541	splice site	probably benign
R0122:Col3a1	UTSW	1	45340897	intron	probably benign
R0131:Col3a1	UTSW	1	45328868	splice site	probably benign
R0762:Col3a1	UTSW	1	45321526	missense	unknown
R0765:Col3a1	UTSW	1	45336651	unclassified	probably benign
R0853:Col3a1	UTSW	1	45343324	intron	probably benign
R0898:Col3a1	UTSW	1	45333993	unclassified	probably benign
R1170:Col3a1	UTSW	1	45327601	missense	unknown
R1170:Col3a1	UTSW	1	45347724	missense	probably damaging	1.00
R1440:Col3a1	UTSW	1	45343312	splice site	probably null
R1449:Col3a1	UTSW	1	45321611	missense	unknown
R1526:Col3a1	UTSW	1	45321688	missense	unknown
R1572:Col3a1	UTSW	1	45345968	missense	possibly damaging	0.95
R1585:Col3a1	UTSW	1	45327866	splice site	probably null
R1616:Col3a1	UTSW	1	45328488	critical splice donor site	probably null
R1691:Col3a1	UTSW	1	45348616	unclassified	probably benign
R1876:Col3a1	UTSW	1	45342235	splice site	probably null
R1937:Col3a1	UTSW	1	45334293	unclassified	probably benign
R2093:Col3a1	UTSW	1	45332990	missense	probably damaging	1.00
R2110:Col3a1	UTSW	1	45330145	missense	unknown
R2119:Col3a1	UTSW	1	45346121	missense	probably damaging	1.00
R2256:Col3a1	UTSW	1	45321632	missense	unknown
R2327:Col3a1	UTSW	1	45338611	unclassified	probably benign
R2518:Col3a1	UTSW	1	45337512	unclassified	probably benign
R2991:Col3a1	UTSW	1	45335779	unclassified	probably benign
R3405:Col3a1	UTSW	1	45338753	unclassified	probably benign
R3784:Col3a1	UTSW	1	45347135	missense	probably damaging	1.00
R3847:Col3a1	UTSW	1	45321990	missense	unknown
R3848:Col3a1	UTSW	1	45321990	missense	unknown
R3849:Col3a1	UTSW	1	45321990	missense	unknown
R4502:Col3a1	UTSW	1	45348677	unclassified	probably benign
R4503:Col3a1	UTSW	1	45348677	unclassified	probably benign
R4764:Col3a1	UTSW	1	45346110	missense	probably damaging	1.00
R4839:Col3a1	UTSW	1	45323803	splice site	probably null
R4934:Col3a1	UTSW	1	45339952	unclassified	probably benign
R5033:Col3a1	UTSW	1	45346110	missense	probably damaging	1.00
R5123:Col3a1	UTSW	1	45333596	unclassified	probably benign
R5190:Col3a1	UTSW	1	45329084	missense	unknown
R5190:Col3a1	UTSW	1	45344807	intron	probably benign
R5375:Col3a1	UTSW	1	45347899	splice site	probably null
R5407:Col3a1	UTSW	1	45346052	missense	probably benign	0.03
R5627:Col3a1	UTSW	1	45331560	unclassified	probably benign
R6014:Col3a1	UTSW	1	45321579	nonsense	probably null
R6052:Col3a1	UTSW	1	45345013	unclassified	probably benign
R6263:Col3a1	UTSW	1	45321575	missense	unknown
R6453:Col3a1	UTSW	1	45339378	unclassified	probably benign
R6463:Col3a1	UTSW	1	45342205	intron	probably benign
R6488:Col3a1	UTSW	1	45331534	unclassified	probably benign
R6525:Col3a1	UTSW	1	45347179	missense	possibly damaging	0.88
R6637:Col3a1	UTSW	1	45347730	missense	probably damaging	1.00
R6704:Col3a1	UTSW	1	45347732	missense	probably damaging	1.00
R6744:Col3a1	UTSW	1	45338622	unclassified	probably benign
R6745:Col3a1	UTSW	1	45338622	unclassified	probably benign
R6747:Col3a1	UTSW	1	45338622	unclassified	probably benign
R6858:Col3a1	UTSW	1	45345984	missense	probably damaging	1.00
R6903:Col3a1	UTSW	1	45331988	missense	probably damaging	0.96
R7189:Col3a1	UTSW	1	45333657	missense	unknown
R7194:Col3a1	UTSW	1	45331700	missense	unknown
R7199:Col3a1	UTSW	1	45332141	missense	probably null	0.99
R7204:Col3a1	UTSW	1	45322418	missense	unknown
R7304:Col3a1	UTSW	1	45347811	missense	unknown
R7378:Col3a1	UTSW	1	45327647	splice site	probably null
R7398:Col3a1	UTSW	1	45327813	missense	unknown
R7742:Col3a1	UTSW	1	45345001	missense	unknown
R8072:Col3a1	UTSW	1	45321574	missense	unknown
R8177:Col3a1	UTSW	1	45335764	missense	unknown
R8183:Col3a1	UTSW	1	45334810	missense	unknown
R8445:Col3a1	UTSW	1	45341180	nonsense	probably null
R8490:Col3a1	UTSW	1	45345956	missense	probably benign	0.01
R8546:Col3a1	UTSW	1	45340939	intron	probably benign
R8720:Col3a1	UTSW	1	45347733	missense	unknown
R8733:Col3a1	UTSW	1	45340312	splice site	probably benign
R8888:Col3a1	UTSW	1	45339979	missense	unknown
R9227:Col3a1	UTSW	1	45343978	missense	unknown
R9230:Col3a1	UTSW	1	45343978	missense	unknown
R9302:Col3a1	UTSW	1	45311820	nonsense	probably null
R9366:Col3a1	UTSW	1	45341231	missense	unknown
Z1177:Col3a1	UTSW	1	45311800	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCACCTTGTGTTCCTAGGGC -3'
(R):5'- GATGTTATACTGTCATAGAGCTAGAGG -3'

Sequencing Primer
(F):5'- ATAACGGCAGTCCTGGTGG -3'
(R):5'- TACTGTCATAGAGCTAGAGGGAGAGC -3'

Posted On

2016-11-08