Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02618:Col4a5'

300722

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 #

IGL02618

Quality Score

Status

Chromosome

Chromosomal Location

140258381-140472230 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 140466678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1557 (P1557S)

Ref Sequence

ENSEMBL: ENSMUSP00000108553 (fasta)

Gene Model

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

AlphaFold

Q63ZW6

Predicted Effect

probably damaging
Transcript: ENSMUST00000112930
AA Change: P1557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274
AA Change: P1557S

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 damaging
Transcript: ENSMUST00000112931
AA Change: P1557S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274
AA Change: P1557S

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: ENSMUST00000117707

Predicted Effect

unknown
Transcript: ENSMUST00000130732
AA Change: P665S

SMART Domains

Protein: ENSMUSP00000116610
Gene: ENSMUSG00000031274
AA Change: P665S

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	G	A	12: 55,104,086 (GRCm39)	Q178*	probably null	Het
Adgre1	T	A	17: 57,751,021 (GRCm39)	V565E	possibly damaging	Het
Arfgef2	C	A	2: 166,695,233 (GRCm39)	N535K	probably damaging	Het
Bbx	A	G	16: 50,068,161 (GRCm39)	L161S	probably damaging	Het
Bclaf1	T	C	10: 20,199,274 (GRCm39)	S224P	probably damaging	Het
Car2	A	G	3: 14,963,032 (GRCm39)	D189G	probably benign	Het
Catsperb	A	T	12: 101,446,983 (GRCm39)		probably benign	Het
Ccdc88c	C	T	12: 100,879,812 (GRCm39)	V1770I	probably benign	Het
Cebpe	T	C	14: 54,948,234 (GRCm39)	D203G	probably damaging	Het
Chn2	A	G	6: 54,197,422 (GRCm39)	N104S	probably damaging	Het
Clec2i	G	A	6: 128,873,464 (GRCm39)	C231Y	probably damaging	Het
Creb3l1	T	C	2: 91,813,543 (GRCm39)	N498S	probably benign	Het
Ctnnal1	A	T	4: 56,817,060 (GRCm39)	D587E	probably benign	Het
Dnmt3l	T	C	10: 77,889,856 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,971,265 (GRCm39)	V100A	probably benign	Het
Frk	C	T	10: 34,459,960 (GRCm39)	T185I	possibly damaging	Het
Frmd4b	G	A	6: 97,285,066 (GRCm39)	Q340*	probably null	Het
Lima1	C	A	15: 99,700,097 (GRCm39)		probably benign	Het
Mtcl2	A	G	2: 156,882,486 (GRCm39)	L522P	probably damaging	Het
Ndrg1	G	A	15: 66,812,086 (GRCm39)	H202Y	probably benign	Het
Nxpe2	T	G	9: 48,237,634 (GRCm39)	N207T	probably damaging	Het
Or5ac19	A	T	16: 59,089,290 (GRCm39)	S247T	probably damaging	Het
Pdzph1	T	C	17: 59,186,068 (GRCm39)		probably benign	Het
Pinx1	A	G	14: 64,105,969 (GRCm39)	D75G	probably damaging	Het
Plxdc1	A	T	11: 97,823,130 (GRCm39)	D370E	probably benign	Het
Polb	A	T	8: 23,127,109 (GRCm39)	L228Q	probably damaging	Het
Rab3gap2	T	A	1: 184,983,938 (GRCm39)	I521N	possibly damaging	Het
Rapgef1	A	G	2: 29,627,955 (GRCm39)	D1045G	probably damaging	Het
Rbks	A	T	5: 31,781,863 (GRCm39)	Y312*	probably null	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Src	A	T	2: 157,306,698 (GRCm39)	K234*	probably null	Het
Stk36	C	A	1: 74,670,834 (GRCm39)		probably benign	Het
Ttll6	G	T	11: 96,038,388 (GRCm39)	C412F	probably benign	Het
Zfp58	A	G	13: 67,639,475 (GRCm39)	F339L	possibly damaging	Het

Other mutations in Col4a5

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01717:Col4a5	APN	X	140,422,234 (GRCm39)	missense	unknown
IGL02244:Col4a5	APN	X	140,382,669 (GRCm39)	splice site	probably benign
IGL02562:Col4a5	APN	X	140,439,671 (GRCm39)	splice site	probably benign
IGL02859:Col4a5	APN	X	140,392,846 (GRCm39)	missense	unknown

Posted On

2015-04-16