Mutagenetix > Incidental Mutations

Incidental Mutation 'R1456:Col4a1'

161792

Institutional Source

Beutler Lab

Gene Symbol

Col4a1

Ensembl Gene

ENSMUSG00000031502

Gene Name

collagen, type IV, alpha 1

Synonyms

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

MMRRC Submission

039511-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1456 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11198423-11312826 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to C at 11242829 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147951 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033898] [ENSMUST00000208095] [ENSMUST00000209661] [ENSMUST00000209735]

Predicted Effect

probably benign
Transcript: ENSMUST00000033898

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502

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

probably benign
Transcript: ENSMUST00000208095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209000

Predicted Effect

probably benign
Transcript: ENSMUST00000209661

Predicted Effect

probably benign
Transcript: ENSMUST00000209735

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.1%
20x: 88.9%

Validation Efficiency

98% (90/92)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,480,920		probably null	Het
4930563D23Rik	T	A	16: 92,320,665	Y245F	probably damaging	Het
4932414N04Rik	A	T	2: 68,716,214	E80V	possibly damaging	Het
Alkbh3	A	G	2: 94,001,419		probably null	Het
Ankar	A	T	1: 72,665,118	Y664N	probably benign	Het
Arhgap18	T	C	10: 26,916,440	I629T	probably benign	Het
Arhgef28	C	T	13: 98,075,002	E158K	probably benign	Het
Asxl2	C	T	12: 3,501,872	H1205Y	possibly damaging	Het
Birc6	A	G	17: 74,609,290	I427V	probably benign	Het
Camk4	A	G	18: 33,129,843		probably benign	Het
Ccdc178	A	T	18: 22,150,424	D16E	possibly damaging	Het
Cct6b	G	T	11: 82,753,620		probably benign	Het
Ccz1	A	G	5: 144,011,018		probably benign	Het
Cdh23	T	C	10: 60,487,120	N335S	possibly damaging	Het
Cemip	T	A	7: 83,998,510	S121C	possibly damaging	Het
Cers1	A	G	8: 70,331,188	E262G	probably damaging	Het
Clec11a	G	T	7: 44,306,450	P58T	possibly damaging	Het
Clec16a	T	C	16: 10,691,555	I797T	probably damaging	Het
Colgalt2	G	A	1: 152,484,904	V231I	probably damaging	Het
D430041D05Rik	G	T	2: 104,208,083	N1580K	probably damaging	Het
Dcdc5	A	G	2: 106,351,565		noncoding transcript	Het
Ddx17	T	C	15: 79,530,376	D530G	probably benign	Het
Dhx9	A	T	1: 153,465,695	D601E	probably benign	Het
Dnah3	A	G	7: 120,047,630	Y1059H	probably damaging	Het
Dtx1	C	A	5: 120,710,504		probably benign	Het
Egfr	A	G	11: 16,863,065	S182G	probably benign	Het
Fads1	A	G	19: 10,185,752	N131S	probably benign	Het
Fancm	C	T	12: 65,118,351	A1490V	possibly damaging	Het
Fsd2	C	A	7: 81,559,591	E168*	probably null	Het
Gm20388	T	C	8: 122,841,948		probably benign	Het
Gm9772	A	T	17: 22,007,118	C62S	probably damaging	Het
H60c	C	T	10: 3,260,307	A81T	possibly damaging	Het
Hira	T	G	16: 18,925,663	S377A	probably benign	Het
Iffo1	T	C	6: 125,145,914	S220P	possibly damaging	Het
Itih4	A	G	14: 30,892,653	M491V	probably benign	Het
Khdrbs2	T	C	1: 32,520,696	R102G	possibly damaging	Het
Klhdc7a	T	G	4: 139,965,524	Y704S	possibly damaging	Het
Klk1b21	G	A	7: 44,105,499	V73I	probably benign	Het
Krt42	G	A	11: 100,269,609	A88V	probably benign	Het
Krt42	C	T	11: 100,269,610	A88T	probably benign	Het
Limk1	G	T	5: 134,657,510	D580E	probably benign	Het
Lipk	C	T	19: 34,046,785	P323S	probably damaging	Het
Lipo5	T	A	19: 33,465,873		probably benign	Het
Llgl2	A	G	11: 115,845,499	D166G	probably benign	Het
Mapk8ip3	A	T	17: 24,906,949	N439K	probably damaging	Het
Mapkbp1	C	T	2: 119,973,145	R32W	probably damaging	Het
Med23	T	A	10: 24,903,652		probably benign	Het
Mrgprb1	A	T	7: 48,448,029	M45K	probably damaging	Het
Mroh7	G	A	4: 106,695,141		probably benign	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Ms4a10	T	A	19: 10,964,733	T175S	possibly damaging	Het
Muc3	T	C	5: 137,137,951	H330R	probably benign	Het
Myo15	A	T	11: 60,508,202	I2787F	probably damaging	Het
Ndst1	A	G	18: 60,713,205	C11R	possibly damaging	Het
Obsl1	C	A	1: 75,487,656	G1669*	probably null	Het
Olfr477	A	G	7: 107,990,398	E11G	probably benign	Het
Olfr784	A	T	10: 129,387,783	D50V	probably damaging	Het
Olfr873	T	C	9: 20,300,838	Y214H	probably benign	Het
Pafah2	T	A	4: 134,404,157	I52N	probably damaging	Het
Pcsk6	A	T	7: 66,043,535	I693F	possibly damaging	Het
Pde4c	G	T	8: 70,746,613	R228L	probably benign	Het
Pdzd8	T	C	19: 59,300,472	N832S	probably benign	Het
Plbd1	T	A	6: 136,613,816	M451L	probably benign	Het
Pramef17	G	T	4: 143,993,281	D171E	probably benign	Het
Prom1	T	C	5: 44,037,623	D260G	probably damaging	Het
Ranbp17	A	G	11: 33,266,310	S813P	probably damaging	Het
Scn10a	T	C	9: 119,691,478	I119V	probably benign	Het
Sh3pxd2b	A	G	11: 32,415,967	T353A	probably damaging	Het
Shq1	A	T	6: 100,669,698		probably null	Het
Slc22a28	T	A	19: 8,071,858	H342L	possibly damaging	Het
Slco2b1	C	T	7: 99,664,907	E9K	probably null	Het
Specc1l	T	C	10: 75,246,284	F505L	probably damaging	Het
Sptan1	G	T	2: 29,980,203		probably null	Het
St6gal2	A	G	17: 55,490,931		probably benign	Het
Taok2	T	C	7: 126,880,141	I73V	probably benign	Het
Tax1bp1	C	T	6: 52,744,244	T478I	probably benign	Het
Tbc1d4	A	T	14: 101,507,106	N361K	probably damaging	Het
Tph1	A	T	7: 46,647,483	Y429*	probably null	Het
Tprkb	A	T	6: 85,924,421	R14W	probably damaging	Het
Trio	A	T	15: 27,753,804		probably benign	Het
Ttc23	T	C	7: 67,667,154		probably benign	Het
Vmn1r211	T	C	13: 22,852,245	Y84C	probably damaging	Het
Vmn2r22	C	G	6: 123,637,665	G322A	possibly damaging	Het
Wdr74	A	G	19: 8,740,412	Q330R	probably benign	Het
Wdtc1	C	A	4: 133,297,428	S486I	possibly damaging	Het
Zbtb24	T	C	10: 41,464,993	V673A	possibly damaging	Het
Zfpm2	A	T	15: 41,102,481	R655S	probably damaging	Het
Zkscan5	A	G	5: 145,220,988	N694D	probably benign	Het

Other mutations in Col4a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Col4a1	APN	8	11240077	splice site	probably benign
IGL00503:Col4a1	APN	8	11240076	splice site	probably benign
IGL00938:Col4a1	APN	8	11236456	intron	probably benign
IGL01295:Col4a1	APN	8	11236075	intron	probably benign
IGL01406:Col4a1	APN	8	11218898	missense	probably damaging	1.00
IGL01807:Col4a1	APN	8	11247056	utr 5 prime	probably benign
IGL01865:Col4a1	APN	8	11201790	utr 3 prime	probably benign
IGL02166:Col4a1	APN	8	11244509	unclassified	probably benign
IGL02234:Col4a1	APN	8	11216713	missense	probably damaging	1.00
IGL02445:Col4a1	APN	8	11233911	intron	probably benign
IGL02719:Col4a1	APN	8	11231950	intron	probably benign
IGL02817:Col4a1	APN	8	11220259	missense	probably damaging	1.00
IGL02821:Col4a1	APN	8	11221375	missense	probably benign	0.04
IGL02870:Col4a1	APN	8	11221375	missense	probably benign	0.04
IGL02935:Col4a1	APN	8	11219166	missense	probably damaging	1.00
IGL03085:Col4a1	APN	8	11222198	nonsense	probably null
Wayne	UTSW	8	11209650	missense	probably damaging	1.00
IGL03134:Col4a1	UTSW	8	11240069	critical splice acceptor site	probably null
R0076:Col4a1	UTSW	8	11218713	missense	probably damaging	1.00
R0076:Col4a1	UTSW	8	11218713	missense	probably damaging	1.00
R0238:Col4a1	UTSW	8	11218780	splice site	probably benign
R0239:Col4a1	UTSW	8	11218780	splice site	probably benign
R0268:Col4a1	UTSW	8	11267588	splice site	probably benign
R0320:Col4a1	UTSW	8	11242782	splice site	probably null
R0402:Col4a1	UTSW	8	11199838	utr 3 prime	probably benign
R0483:Col4a1	UTSW	8	11236423	splice site	probably benign
R0511:Col4a1	UTSW	8	11208333	critical splice acceptor site	probably null
R0544:Col4a1	UTSW	8	11226487	intron	probably benign
R0630:Col4a1	UTSW	8	11199889	splice site	probably benign
R0648:Col4a1	UTSW	8	11246892	missense	unknown
R0733:Col4a1	UTSW	8	11218934	missense	possibly damaging	0.46
R0839:Col4a1	UTSW	8	11221015	missense	probably damaging	0.96
R0900:Col4a1	UTSW	8	11218014	small deletion	probably benign
R0941:Col4a1	UTSW	8	11208296	missense	unknown
R1728:Col4a1	UTSW	8	11212712	missense	possibly damaging	0.81
R1832:Col4a1	UTSW	8	11214644	splice site	probably benign
R1862:Col4a1	UTSW	8	11226439	intron	probably benign
R1955:Col4a1	UTSW	8	11208228	splice site	probably null
R2058:Col4a1	UTSW	8	11210792	missense	probably damaging	0.96
R2263:Col4a1	UTSW	8	11312586	unclassified	probably benign
R2696:Col4a1	UTSW	8	11235092	splice site	probably null
R3826:Col4a1	UTSW	8	11209650	missense	probably damaging	1.00
R3828:Col4a1	UTSW	8	11209650	missense	probably damaging	1.00
R3829:Col4a1	UTSW	8	11209650	missense	probably damaging	1.00
R3830:Col4a1	UTSW	8	11209650	missense	probably damaging	1.00
R3923:Col4a1	UTSW	8	11201665	utr 3 prime	probably benign
R3980:Col4a1	UTSW	8	11239155	intron	probably benign
R4120:Col4a1	UTSW	8	11206263	missense	unknown
R4152:Col4a1	UTSW	8	11217227	intron	probably null
R4437:Col4a1	UTSW	8	11206387	nonsense	probably null
R5237:Col4a1	UTSW	8	11245068	unclassified	probably benign
R5362:Col4a1	UTSW	8	11245760	unclassified	probably benign
R5488:Col4a1	UTSW	8	11312550	unclassified	probably benign
R5489:Col4a1	UTSW	8	11312550	unclassified	probably benign
R5864:Col4a1	UTSW	8	11202973	utr 3 prime	probably benign
R5929:Col4a1	UTSW	8	11216788	missense	probably benign	0.17
R6159:Col4a1	UTSW	8	11220007	missense	probably damaging	1.00
R6261:Col4a1	UTSW	8	11207409	splice site	probably null
R6404:Col4a1	UTSW	8	11207409	splice site	probably null
R6520:Col4a1	UTSW	8	11219152	missense	probably damaging	1.00
R6862:Col4a1	UTSW	8	11202926	utr 3 prime	probably benign
R6974:Col4a1	UTSW	8	11312538	unclassified	probably benign
R7329:Col4a1	UTSW	8	11226494	critical splice acceptor site	probably null
Z1088:Col4a1	UTSW	8	11246859	splice site	probably benign
Z1177:Col4a1	UTSW	8	11235218	missense	unknown
Z1177:Col4a1	UTSW	8	11239024	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AAGCCCTGCTGGATGCAATGAC -3'
(R):5'- CAATGGTTAGGCACCCTGGTGATG -3'

Sequencing Primer
(F):5'- ggtggtggtggtggtgg -3'
(R):5'- GATGCGGTCACCTCTCCATAG -3'

Posted On

2014-03-14