Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01406:Col4a1'

79801

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Col4a1

Ensembl Gene

ENSMUSG00000031502

Gene Name

collagen, type IV, alpha 1

Synonyms

Del(8)Bru44H, Del(8)44H, alpha1(IV) collagen, Col4a-1, Bru, Svc, Raw

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01406

Quality Score

Status

Chromosome

Chromosomal Location

11248423-11362826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11268898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 980 (D980G)

Ref Sequence

ENSEMBL: ENSMUSP00000147951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000209661] [ENSMUST00000209735]

AlphaFold

P02463

Predicted Effect

probably damaging
Transcript: ENSMUST00000033898
AA Change: D980G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: D980G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
low complexity region	28	43	N/A	INTRINSIC
internal_repeat_2	49	89	2.1e-8	PROSPERO
Pfam:Collagen	103	163	6.1e-11	PFAM
Pfam:Collagen	167	225	7.8e-10	PFAM
low complexity region	232	248	N/A	INTRINSIC
Pfam:Collagen	274	334	1.7e-11	PFAM
low complexity region	356	389	N/A	INTRINSIC
low complexity region	404	426	N/A	INTRINSIC
low complexity region	435	455	N/A	INTRINSIC
Pfam:Collagen	472	533	7.3e-12	PFAM
Pfam:Collagen	539	597	4.8e-9	PFAM
low complexity region	600	636	N/A	INTRINSIC
Pfam:Collagen	642	689	4.5e-8	PFAM
Pfam:Collagen	689	746	3.5e-8	PFAM
Pfam:Collagen	736	800	2.2e-9	PFAM
Pfam:Collagen	837	896	5.2e-11	PFAM
Pfam:Collagen	882	940	1.9e-10	PFAM
Pfam:Collagen	943	1007	1.7e-10	PFAM
Pfam:Collagen	996	1058	2e-9	PFAM
Pfam:Collagen	1057	1121	1.5e-10	PFAM
low complexity region	1133	1148	N/A	INTRINSIC
Pfam:Collagen	1174	1233	8.6e-11	PFAM
low complexity region	1236	1266	N/A	INTRINSIC
Pfam:Collagen	1269	1337	1e-8	PFAM
Pfam:Collagen	1290	1354	2.2e-9	PFAM
Pfam:Collagen	1384	1443	1e-10	PFAM
C4	1445	1554	3.49e-65	SMART
C4	1555	1668	1.53e-79	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130488

Predicted Effect

probably benign
Transcript: ENSMUST00000209661

Predicted Effect

probably damaging
Transcript: ENSMUST00000209735
AA Change: D980G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes the alpha-1 subunit of the type IV collagens, an essential component of basement membranes. The encoded protein forms a triple helical heterotrimer comprised of two alpha-1 and one alpha-2 subunits that assembles into a type IV collagen network. This gene is located adjacent to the gene encoding alpha-2 subunit. Mice lacking both the alpha-1 and alpha-2 subunits of collagen IV die in utero due to structural deficiencies in the basement membranes and certain mutations in this gene cause perinatal cerebral hemorrhage and porencephaly. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice with ENU induced alleles have various eye and vision defects and may show bruising at birth. Mice carrying the G498V mutation have renal glomerular defects that resolve within the first weeks of life, but show retinal tortuosity, muscular dystrophy, brain hemorrhages, and renal cysts as adults. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,180,212 (GRCm39)	Q558*	probably null	Het
Adam29	A	T	8: 56,324,874 (GRCm39)	Y527N	probably damaging	Het
Atm	T	C	9: 53,351,046 (GRCm39)	*3067W	probably null	Het
B3galt2	A	T	1: 143,522,844 (GRCm39)	I327L	possibly damaging	Het
Cadm2	C	A	16: 66,612,192 (GRCm39)		probably null	Het
Cd6	G	T	19: 10,768,501 (GRCm39)	A496E	possibly damaging	Het
Cdh16	A	T	8: 105,345,044 (GRCm39)	I415N	possibly damaging	Het
Ces1b	T	C	8: 93,798,622 (GRCm39)	N188S	probably damaging	Het
Dmgdh	G	A	13: 93,823,539 (GRCm39)		probably benign	Het
Emb	A	T	13: 117,405,466 (GRCm39)	D296V	probably damaging	Het
Fbln2	T	C	6: 91,243,374 (GRCm39)	S917P	probably damaging	Het
Fmnl1	T	C	11: 103,085,516 (GRCm39)		probably benign	Het
Frem2	T	C	3: 53,433,317 (GRCm39)	Y2669C	probably damaging	Het
Gm3115	T	A	14: 4,087,137 (GRCm38)		probably benign	Het
Hnf1b	C	T	11: 83,779,950 (GRCm39)	P402S	probably benign	Het
Il7r	T	A	15: 9,508,300 (GRCm39)	R341*	probably null	Het
Krt75	T	C	15: 101,476,460 (GRCm39)	Y435C	probably damaging	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Musk	T	C	4: 58,367,539 (GRCm39)	Y578H	probably damaging	Het
Naa20	A	G	2: 145,757,726 (GRCm39)		probably null	Het
Ncoa7	T	C	10: 30,566,836 (GRCm39)	D565G	probably damaging	Het
Pgap1	C	T	1: 54,572,573 (GRCm39)		probably null	Het
Plekha5	G	A	6: 140,518,676 (GRCm39)	R172H	probably damaging	Het
Snx17	A	G	5: 31,353,338 (GRCm39)	Y77C	probably damaging	Het
Spdye4b	C	T	5: 143,188,166 (GRCm39)	P220S	probably benign	Het
Tbx18	T	A	9: 87,595,596 (GRCm39)	D326V	probably damaging	Het
Tlr12	A	T	4: 128,510,132 (GRCm39)	L706*	probably null	Het
Tnfrsf21	T	A	17: 43,348,837 (GRCm39)	C150S	probably damaging	Het
Togaram1	A	G	12: 65,042,352 (GRCm39)	D1187G	possibly damaging	Het
Trav5-1	T	C	14: 52,860,444 (GRCm39)	L83P	probably damaging	Het
Vmn2r75	T	A	7: 85,812,500 (GRCm39)		probably benign	Het

Other mutations in Col4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Col4a1	APN	8	11,290,077 (GRCm39)	splice site	probably benign
IGL00503:Col4a1	APN	8	11,290,076 (GRCm39)	splice site	probably benign
IGL00938:Col4a1	APN	8	11,286,456 (GRCm39)	intron	probably benign
IGL01295:Col4a1	APN	8	11,286,075 (GRCm39)	intron	probably benign
IGL01807:Col4a1	APN	8	11,297,056 (GRCm39)	utr 5 prime	probably benign
IGL01865:Col4a1	APN	8	11,251,790 (GRCm39)	utr 3 prime	probably benign
IGL02166:Col4a1	APN	8	11,294,509 (GRCm39)	unclassified	probably benign
IGL02234:Col4a1	APN	8	11,266,713 (GRCm39)	missense	probably damaging	1.00
IGL02445:Col4a1	APN	8	11,283,911 (GRCm39)	intron	probably benign
IGL02719:Col4a1	APN	8	11,281,950 (GRCm39)	intron	probably benign
IGL02817:Col4a1	APN	8	11,270,259 (GRCm39)	missense	probably damaging	1.00
IGL02821:Col4a1	APN	8	11,271,375 (GRCm39)	missense	probably benign	0.04
IGL02870:Col4a1	APN	8	11,271,375 (GRCm39)	missense	probably benign	0.04
IGL02935:Col4a1	APN	8	11,269,166 (GRCm39)	missense	probably damaging	1.00
IGL03085:Col4a1	APN	8	11,272,198 (GRCm39)	nonsense	probably null
Wayne	UTSW	8	11,259,650 (GRCm39)	missense	probably damaging	1.00
IGL03134:Col4a1	UTSW	8	11,290,069 (GRCm39)	critical splice acceptor site	probably null
R0076:Col4a1	UTSW	8	11,268,713 (GRCm39)	missense	probably damaging	1.00
R0076:Col4a1	UTSW	8	11,268,713 (GRCm39)	missense	probably damaging	1.00
R0238:Col4a1	UTSW	8	11,268,780 (GRCm39)	splice site	probably benign
R0239:Col4a1	UTSW	8	11,268,780 (GRCm39)	splice site	probably benign
R0268:Col4a1	UTSW	8	11,317,588 (GRCm39)	splice site	probably benign
R0320:Col4a1	UTSW	8	11,292,782 (GRCm39)	splice site	probably null
R0402:Col4a1	UTSW	8	11,249,838 (GRCm39)	utr 3 prime	probably benign
R0483:Col4a1	UTSW	8	11,286,423 (GRCm39)	splice site	probably benign
R0511:Col4a1	UTSW	8	11,258,333 (GRCm39)	critical splice acceptor site	probably null
R0544:Col4a1	UTSW	8	11,276,487 (GRCm39)	intron	probably benign
R0630:Col4a1	UTSW	8	11,249,889 (GRCm39)	splice site	probably benign
R0648:Col4a1	UTSW	8	11,296,892 (GRCm39)	missense	unknown
R0733:Col4a1	UTSW	8	11,268,934 (GRCm39)	missense	possibly damaging	0.46
R0839:Col4a1	UTSW	8	11,271,015 (GRCm39)	missense	probably damaging	0.96
R0900:Col4a1	UTSW	8	11,268,014 (GRCm39)	small deletion	probably benign
R0941:Col4a1	UTSW	8	11,258,296 (GRCm39)	missense	unknown
R1456:Col4a1	UTSW	8	11,292,829 (GRCm39)	splice site	probably benign
R1728:Col4a1	UTSW	8	11,262,712 (GRCm39)	missense	possibly damaging	0.81
R1832:Col4a1	UTSW	8	11,264,644 (GRCm39)	splice site	probably benign
R1862:Col4a1	UTSW	8	11,276,439 (GRCm39)	intron	probably benign
R1955:Col4a1	UTSW	8	11,258,228 (GRCm39)	splice site	probably null
R2058:Col4a1	UTSW	8	11,260,792 (GRCm39)	missense	probably damaging	0.96
R2263:Col4a1	UTSW	8	11,362,586 (GRCm39)	unclassified	probably benign
R2696:Col4a1	UTSW	8	11,285,092 (GRCm39)	splice site	probably null
R3826:Col4a1	UTSW	8	11,259,650 (GRCm39)	missense	probably damaging	1.00
R3828:Col4a1	UTSW	8	11,259,650 (GRCm39)	missense	probably damaging	1.00
R3829:Col4a1	UTSW	8	11,259,650 (GRCm39)	missense	probably damaging	1.00
R3830:Col4a1	UTSW	8	11,259,650 (GRCm39)	missense	probably damaging	1.00
R3923:Col4a1	UTSW	8	11,251,665 (GRCm39)	utr 3 prime	probably benign
R3980:Col4a1	UTSW	8	11,289,155 (GRCm39)	intron	probably benign
R4120:Col4a1	UTSW	8	11,256,263 (GRCm39)	missense	unknown
R4152:Col4a1	UTSW	8	11,267,227 (GRCm39)	splice site	probably null
R4437:Col4a1	UTSW	8	11,256,387 (GRCm39)	nonsense	probably null
R5237:Col4a1	UTSW	8	11,295,068 (GRCm39)	unclassified	probably benign
R5362:Col4a1	UTSW	8	11,295,760 (GRCm39)	unclassified	probably benign
R5488:Col4a1	UTSW	8	11,362,550 (GRCm39)	unclassified	probably benign
R5489:Col4a1	UTSW	8	11,362,550 (GRCm39)	unclassified	probably benign
R5864:Col4a1	UTSW	8	11,252,973 (GRCm39)	utr 3 prime	probably benign
R5929:Col4a1	UTSW	8	11,266,788 (GRCm39)	missense	probably benign	0.17
R6159:Col4a1	UTSW	8	11,270,007 (GRCm39)	missense	probably damaging	1.00
R6261:Col4a1	UTSW	8	11,257,409 (GRCm39)	splice site	probably null
R6404:Col4a1	UTSW	8	11,257,409 (GRCm39)	splice site	probably null
R6520:Col4a1	UTSW	8	11,269,152 (GRCm39)	missense	probably damaging	1.00
R6862:Col4a1	UTSW	8	11,252,926 (GRCm39)	utr 3 prime	probably benign
R6974:Col4a1	UTSW	8	11,362,538 (GRCm39)	unclassified	probably benign
R7329:Col4a1	UTSW	8	11,276,494 (GRCm39)	critical splice acceptor site	probably null
R7893:Col4a1	UTSW	8	11,270,243 (GRCm39)	missense	unknown
R8392:Col4a1	UTSW	8	11,258,333 (GRCm39)	critical splice acceptor site	probably null
R8809:Col4a1	UTSW	8	11,295,916 (GRCm39)	missense	unknown
R8957:Col4a1	UTSW	8	11,295,906 (GRCm39)	unclassified	probably benign
R9013:Col4a1	UTSW	8	11,272,270 (GRCm39)	missense	probably benign	0.02
R9048:Col4a1	UTSW	8	11,281,944 (GRCm39)	splice site	probably benign
R9102:Col4a1	UTSW	8	11,253,007 (GRCm39)	missense	possibly damaging	0.67
R9154:Col4a1	UTSW	8	11,267,446 (GRCm39)	missense	probably damaging	0.99
R9379:Col4a1	UTSW	8	11,249,838 (GRCm39)	missense	unknown
Z1088:Col4a1	UTSW	8	11,296,859 (GRCm39)	splice site	probably benign
Z1177:Col4a1	UTSW	8	11,289,024 (GRCm39)	missense	unknown
Z1177:Col4a1	UTSW	8	11,285,218 (GRCm39)	missense	unknown

Posted On

2013-11-05