Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02244:Col4a5'

286125

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a5

Ensembl Gene

ENSMUSG00000031274

Gene Name

collagen, type IV, alpha 5

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02244

Quality Score

Status

Chromosome

Chromosomal Location

140258381-140472230 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 140382669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000108553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112930] [ENSMUST00000112931]

AlphaFold

Q63ZW6

Predicted Effect

probably benign
Transcript: ENSMUST00000112930

SMART Domains

Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	51	73	N/A	INTRINSIC
low complexity region	75	111	N/A	INTRINSIC
internal_repeat_7	113	132	6.43e-8	PROSPERO
low complexity region	134	159	N/A	INTRINSIC
Pfam:Collagen	165	223	1.1e-9	PFAM
Pfam:Collagen	283	345	1.1e-10	PFAM
Pfam:Collagen	390	446	2.8e-8	PFAM
low complexity region	454	463	N/A	INTRINSIC
Pfam:Collagen	487	550	1.2e-11	PFAM
low complexity region	561	595	N/A	INTRINSIC
Pfam:Collagen	599	658	3.2e-9	PFAM
Pfam:Collagen	659	706	1.8e-8	PFAM
Pfam:Collagen	706	763	2.1e-8	PFAM
Pfam:Collagen	753	818	5.2e-10	PFAM
Pfam:Collagen	793	855	2.4e-8	PFAM
Pfam:Collagen	854	912	7.2e-11	PFAM
Pfam:Collagen	896	958	1.2e-9	PFAM
Pfam:Collagen	960	1020	8.4e-12	PFAM
Pfam:Collagen	1014	1073	1.5e-11	PFAM
Pfam:Collagen	1074	1133	1.7e-12	PFAM
Pfam:Collagen	1128	1190	1.1e-9	PFAM
Pfam:Collagen	1189	1248	7.3e-10	PFAM
Pfam:Collagen	1321	1377	1.3e-10	PFAM
Pfam:Collagen	1400	1465	3.1e-9	PFAM
C4	1467	1576	7.2e-67	SMART
C4	1577	1690	7.41e-78	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112931

SMART Domains

Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	29	45	N/A	INTRINSIC
low complexity region	51	73	N/A	INTRINSIC
low complexity region	75	111	N/A	INTRINSIC
internal_repeat_7	113	132	6.43e-8	PROSPERO
low complexity region	134	159	N/A	INTRINSIC
Pfam:Collagen	165	223	1.1e-9	PFAM
Pfam:Collagen	283	345	1.1e-10	PFAM
Pfam:Collagen	390	446	2.9e-8	PFAM
low complexity region	454	463	N/A	INTRINSIC
Pfam:Collagen	487	550	1.2e-11	PFAM
Pfam:Collagen	552	606	1.9e-7	PFAM
Pfam:Collagen	599	658	3.3e-9	PFAM
Pfam:Collagen	659	706	1.8e-8	PFAM
Pfam:Collagen	706	763	2.2e-8	PFAM
Pfam:Collagen	753	818	5.4e-10	PFAM
Pfam:Collagen	793	855	2.5e-8	PFAM
Pfam:Collagen	854	912	7.5e-11	PFAM
Pfam:Collagen	896	958	1.3e-9	PFAM
Pfam:Collagen	960	1020	8.8e-12	PFAM
Pfam:Collagen	1014	1073	1.6e-11	PFAM
Pfam:Collagen	1074	1133	1.8e-12	PFAM
Pfam:Collagen	1128	1190	1.1e-9	PFAM
Pfam:Collagen	1189	1248	7.6e-10	PFAM
Pfam:Collagen	1321	1377	1.4e-10	PFAM
Pfam:Collagen	1400	1465	3.2e-9	PFAM
C4	1467	1576	7.2e-67	SMART
C4	1577	1690	7.41e-78	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Heterozygous or hemizygous mutation of this gene results in premature death, proteinuria, elevated blood urea nitrogen, and kidney glomerular and tubular malformations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	G	T	16: 90,853,085 (GRCm39)	T17K	probably benign	Het
Agbl1	T	C	7: 76,416,120 (GRCm39)	S714P	probably damaging	Het
Araf	A	G	X: 20,719,835 (GRCm39)		probably benign	Het
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armc8	A	T	9: 99,365,227 (GRCm39)	D638E	probably benign	Het
Bpifb5	C	T	2: 154,067,068 (GRCm39)	T107I	possibly damaging	Het
Ces1e	A	C	8: 93,938,977 (GRCm39)		probably null	Het
Col4a3	C	A	1: 82,647,492 (GRCm39)		probably benign	Het
Crocc	T	C	4: 140,765,231 (GRCm39)	H477R	probably benign	Het
Dgkd	C	A	1: 87,842,863 (GRCm39)	N130K	probably benign	Het
Dock1	C	T	7: 134,379,174 (GRCm39)	Q634*	probably null	Het
Dzip3	C	T	16: 48,801,351 (GRCm39)	V58I	probably benign	Het
Fndc3a	A	G	14: 72,793,807 (GRCm39)		probably benign	Het
Glp2r	C	T	11: 67,612,817 (GRCm39)	R379H	probably damaging	Het
Kctd12b	T	A	X: 152,472,330 (GRCm39)	M120L	probably benign	Het
Krt33b	A	G	11: 99,916,189 (GRCm39)	V258A	probably benign	Het
Lpin1	T	A	12: 16,591,770 (GRCm39)	N819I	probably damaging	Het
Lurap1l	T	C	4: 80,871,866 (GRCm39)	S120P	probably damaging	Het
Lysmd4	T	C	7: 66,875,672 (GRCm39)	S112P	probably damaging	Het
Myo1e	A	G	9: 70,274,971 (GRCm39)	K708R	probably benign	Het
Nr3c1	T	A	18: 39,554,610 (GRCm39)		probably benign	Het
Nup62cl	G	T	X: 138,922,780 (GRCm39)	N239K	probably benign	Het
Nwd1	A	T	8: 73,434,210 (GRCm39)	E1269V	probably damaging	Het
Or52e7	C	T	7: 104,685,152 (GRCm39)	T249M	probably damaging	Het
Pcdh9	A	C	14: 93,564,204 (GRCm39)	L1084R	probably damaging	Het
Plxnd1	A	G	6: 115,955,218 (GRCm39)	M543T	probably benign	Het
Prss53	T	A	7: 127,487,964 (GRCm39)	T173S	possibly damaging	Het
Reep2	C	A	18: 34,973,807 (GRCm39)		probably benign	Het
Rp1	T	C	1: 4,419,003 (GRCm39)	D703G	probably benign	Het
Sbf2	T	G	7: 110,159,502 (GRCm39)	D36A	probably damaging	Het
Sh3kbp1	C	T	X: 158,586,724 (GRCm39)	R99W	probably damaging	Het
Sis	T	A	3: 72,863,523 (GRCm39)	R238S	probably benign	Het
Slc35e2	T	A	4: 155,703,019 (GRCm39)	V344D	probably damaging	Het
Specc1	G	A	11: 62,019,194 (GRCm39)	V678I	probably benign	Het
Supt6	T	C	11: 78,123,623 (GRCm39)	D49G	possibly damaging	Het
Tecpr1	G	A	5: 144,146,821 (GRCm39)	A515V	probably benign	Het
Tlr4	G	A	4: 66,752,298 (GRCm39)		probably null	Het
Tmco5b	A	G	2: 113,118,619 (GRCm39)	E114G	probably damaging	Het
Tspear	A	T	10: 77,688,690 (GRCm39)		probably benign	Het
Txlnb	T	A	10: 17,719,116 (GRCm39)	V649E	probably benign	Het
Utp20	A	G	10: 88,651,818 (GRCm39)		probably benign	Het
Virma	G	A	4: 11,546,031 (GRCm39)	R1673Q	probably damaging	Het
Vmn2r70	T	A	7: 85,214,211 (GRCm39)	T314S	probably benign	Het
Zfp938	G	T	10: 82,061,906 (GRCm39)	T238K	possibly damaging	Het

Other mutations in Col4a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Col4a5	APN	X	140,422,234 (GRCm39)	missense	unknown
IGL02562:Col4a5	APN	X	140,439,671 (GRCm39)	splice site	probably benign
IGL02618:Col4a5	APN	X	140,466,678 (GRCm39)	missense	probably damaging	1.00
IGL02859:Col4a5	APN	X	140,392,846 (GRCm39)	missense	unknown

Posted On

2015-04-16