Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02562:Col4a5'

298717

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 #

IGL02562

Quality Score

Status

Chromosome

Chromosomal Location

140258381-140472230 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 140439671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128669

Predicted Effect

probably benign
Transcript: ENSMUST00000130732

SMART Domains

Protein: ENSMUSP00000116610
Gene: ENSMUSG00000031274

Domain	Start	End	E-Value	Type
Pfam:Collagen	1	73	4.7e-10	PFAM
Pfam:Collagen	75	135	1.1e-12	PFAM
Pfam:Collagen	130	188	1.6e-12	PFAM
Pfam:Collagen	189	248	2.2e-13	PFAM
Pfam:Collagen	243	305	1.6e-10	PFAM
Pfam:Collagen	304	363	1.1e-10	PFAM
Pfam:Collagen	362	423	4.7e-11	PFAM
Pfam:Collagen	409	483	6.3e-10	PFAM
Pfam:Collagen	516	574	4.2e-10	PFAM
C4	576	685	7.2e-67	SMART
C4	686	799	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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,144,949 (GRCm39)	C33R	probably damaging	Het
Aifm3	A	G	16: 17,324,126 (GRCm39)	N562S	probably benign	Het
Akap14	G	A	X: 36,427,441 (GRCm39)	T98M	possibly damaging	Het
Atp7b	T	G	8: 22,518,101 (GRCm39)	T234P	probably benign	Het
Atp8b1	T	A	18: 64,715,057 (GRCm39)	Q65L	probably benign	Het
Bclaf3	T	C	X: 158,349,434 (GRCm39)	S600P	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Gigyf2	A	G	1: 87,335,097 (GRCm39)	D120G	probably benign	Het
Gm4953	A	T	1: 158,996,077 (GRCm39)		noncoding transcript	Het
Hip1r	G	T	5: 124,129,586 (GRCm39)		probably benign	Het
Itga2	A	G	13: 114,973,106 (GRCm39)		probably benign	Het
Itga3	T	C	11: 94,959,619 (GRCm39)	T85A	probably benign	Het
Loxl1	A	G	9: 58,196,199 (GRCm39)	S607P	probably damaging	Het
Marchf2	G	A	17: 33,915,048 (GRCm39)	T182I	probably damaging	Het
Mbd1	T	C	18: 74,409,993 (GRCm39)	S386P	probably benign	Het
Meis2	C	A	2: 115,879,627 (GRCm39)	G231V	probably damaging	Het
Myo1h	A	G	5: 114,496,053 (GRCm39)	K774E	probably benign	Het
Or10a2	C	A	7: 106,673,769 (GRCm39)	H245N	probably benign	Het
Or1e26	T	C	11: 73,480,237 (GRCm39)	N109S	probably benign	Het
Or2l5	A	T	16: 19,333,714 (GRCm39)	I224N	possibly damaging	Het
Or51ag1	G	T	7: 103,155,423 (GRCm39)	C243*	probably null	Het
Or8u9	T	G	2: 86,001,384 (GRCm39)	Y259S	probably damaging	Het
Pcm1	T	A	8: 41,778,405 (GRCm39)	D1813E	probably damaging	Het
Pdcl2	A	G	5: 76,467,038 (GRCm39)	Y52H	probably damaging	Het
Piezo1	T	C	8: 123,223,502 (GRCm39)	T816A	probably benign	Het
Ptpn13	T	G	5: 103,710,157 (GRCm39)	L1564R	probably damaging	Het
Pwwp3a	A	G	10: 80,074,729 (GRCm39)	D438G	probably damaging	Het
S2bpcox16	T	C	12: 81,557,616 (GRCm39)	D63G	probably damaging	Het
Slc7a2	T	A	8: 41,368,057 (GRCm39)	M607K	probably damaging	Het
Snrpa	T	A	7: 26,891,123 (GRCm39)	K116M	probably damaging	Het
Spon1	A	G	7: 113,635,996 (GRCm39)	S737G	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	A	G	6: 48,467,056 (GRCm39)		probably null	Het
Tubb4a	C	A	17: 57,388,163 (GRCm39)	E288*	probably null	Het
Vmn2r87	A	T	10: 130,314,513 (GRCm39)	C358S	probably 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
IGL02244:Col4a5	APN	X	140,382,669 (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