Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Col4a5'

104983

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a5

Ensembl Gene

ENSMUSG00000031274

Gene Name

collagen, type IV, alpha 5

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

141475385-141689234 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 141639238 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1070 (V1070D)

Ref Sequence

ENSEMBL: ENSMUSP00000108553 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000112930
AA Change: V1070D

SMART Domains

Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274
AA Change: V1070D

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

unknown
Transcript: ENSMUST00000112931
AA Change: V1070D

SMART Domains

Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274
AA Change: V1070D

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

unknown
Transcript: ENSMUST00000130732
AA Change: V184D

SMART Domains

Protein: ENSMUSP00000116610
Gene: ENSMUSG00000031274
AA Change: V184D

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Aif1	A	T	17: 35,171,555	M73K	probably damaging	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Col4a5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02244:Col4a5	APN	X	141599673	splice site	probably benign
IGL02562:Col4a5	APN	X	141656675	splice site	probably benign
IGL02618:Col4a5	APN	X	141683682	missense	probably damaging	1.00
IGL02859:Col4a5	APN	X	141609850	missense	unknown

Posted On

2014-01-21