Mutagenetix > Incidental Mutations

Incidental Mutation 'R0402:Col4a1'

35621

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

038607-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0402 (G1)

Quality Score

155

Status

Validated

Chromosome

Chromosomal Location

11198423-11312826 bp(-) (GRCm38)

Type of Mutation

utr 3 prime

DNA Base Change (assembly)

T to C at 11199838 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147951 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000033898
AA Change: H1658R

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: H1658R

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: ENSMUST00000151014

Predicted Effect

silent
Transcript: ENSMUST00000209598

Predicted Effect

probably benign
Transcript: ENSMUST00000209735

Meta Mutation Damage Score

0.0806

Coding Region Coverage

1x: 98.2%
3x: 97.0%
10x: 94.5%
20x: 88.7%

Validation Efficiency

100% (74/74)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,609,253	K165N	probably damaging	Het
Adam6b	T	A	12: 113,489,995	M144K	probably damaging	Het
Arhgap44	T	C	11: 65,032,077		probably benign	Het
Arl5c	T	A	11: 97,995,113	I21F	probably damaging	Het
Bglap2	C	T	3: 88,378,245	G40D	probably damaging	Het
Bptf	T	C	11: 107,074,114	E1303G	probably damaging	Het
Calhm1	T	C	19: 47,141,457	T209A	probably damaging	Het
Ccr8	A	G	9: 120,094,910		probably null	Het
Chkb	C	T	15: 89,429,407	R65Q	probably benign	Het
Cryzl2	A	G	1: 157,464,444	T98A	probably benign	Het
D430041D05Rik	T	C	2: 104,168,164	T1080A	probably damaging	Het
Dhx8	C	A	11: 101,752,397	T765N	probably damaging	Het
Dicer1	T	C	12: 104,731,064	D78G	probably benign	Het
Drd2	A	G	9: 49,404,971	I344V	probably benign	Het
Edil3	A	T	13: 89,199,451		probably benign	Het
Fam71a	T	C	1: 191,164,440	D2G	probably benign	Het
Fam71f1	A	G	6: 29,323,902	T209A	probably benign	Het
Fbxw19	C	T	9: 109,484,425	G235D	probably benign	Het
Fzd1	T	C	5: 4,755,702	K627E	possibly damaging	Het
Gm10638	A	G	8: 86,746,200		probably benign	Het
Gm14124	T	A	2: 150,269,216	C609S	possibly damaging	Het
H6pd	G	T	4: 149,996,316	A24E	probably damaging	Het
Hectd2	G	T	19: 36,601,529		probably null	Het
Hps5	A	G	7: 46,790,909		probably benign	Het
Irx3	T	C	8: 91,800,668	N136S	possibly damaging	Het
Kcmf1	T	C	6: 72,849,585	M1V	probably null	Het
Klrb1	A	T	6: 128,710,620	F104I	probably benign	Het
Lrfn5	T	C	12: 61,840,017	M197T	probably benign	Het
Mpdz	A	C	4: 81,361,440	M51R	possibly damaging	Het
Mtbp	G	T	15: 55,569,070	E258*	probably null	Het
Mylk3	T	A	8: 85,352,910	H373L	probably damaging	Het
Myrfl	A	G	10: 116,828,977	S383P	probably damaging	Het
Nt5c	T	C	11: 115,490,642	*195W	probably null	Het
Ocstamp	A	G	2: 165,396,264	V360A	possibly damaging	Het
Olfr1180	A	T	2: 88,412,034	V208D	probably damaging	Het
Olfr122	T	A	17: 37,772,393	C247S	probably damaging	Het
Olfr1277	A	G	2: 111,269,863	F168S	probably damaging	Het
Olfr1330	A	T	4: 118,893,229	I49F	possibly damaging	Het
Olfr1431	A	G	19: 12,209,589	T8A	probably damaging	Het
Otop2	T	C	11: 115,326,408		probably benign	Het
Pom121l2	A	T	13: 21,988,479		probably benign	Het
Pon2	T	A	6: 5,272,410	K137*	probably null	Het
Ppip5k2	T	A	1: 97,719,854	Q1049L	probably benign	Het
Ralgapa2	C	T	2: 146,434,809	V504M	probably damaging	Het
Rph3a	G	A	5: 120,942,254	H654Y	probably damaging	Het
Sh2d1b1	T	C	1: 170,279,773		probably benign	Het
Slc15a2	G	A	16: 36,775,598	T154I	probably benign	Het
Slc45a3	T	C	1: 131,977,527	V96A	possibly damaging	Het
Slc7a4	A	G	16: 17,575,633	S101P	probably damaging	Het
Smco2	T	C	6: 146,871,135		probably benign	Het
Spata2	A	T	2: 167,483,660	V413E	probably benign	Het
Specc1l	A	G	10: 75,246,426	E552G	probably damaging	Het
Sstr5	C	T	17: 25,492,034	V74M	probably benign	Het
Timm50	G	A	7: 28,306,855	R274W	probably damaging	Het
Tll2	A	G	19: 41,098,693	V573A	possibly damaging	Het
Tm7sf3	C	A	6: 146,606,187	R459M	possibly damaging	Het
Txk	A	G	5: 72,731,762		probably null	Het
Uroc1	A	G	6: 90,347,302	D436G	probably damaging	Het
Vmn1r13	T	A	6: 57,210,098	Y81N	possibly damaging	Het
Vmn2r19	A	G	6: 123,336,182	E737G	probably damaging	Het
Wfs1	A	G	5: 36,976,980		probably benign	Het
Zfp1	G	A	8: 111,670,243	E285K	probably damaging	Het
Zfp661	G	A	2: 127,577,720	Q167*	probably null	Het
Zswim8	T	C	14: 20,710,766	F36S	probably damaging	Het
Zw10	A	G	9: 49,068,723	T385A	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
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
R1456:Col4a1	UTSW	8	11242829	splice site	probably benign
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'- TTATGGAAAGCTCTCCGCTGCC -3'
(R):5'- CCACAGACCCCAGTTGCTGTTTATC -3'

Sequencing Primer
(F):5'- TAGTTACGCGAATCCCTATAAGGC -3'
(R):5'- AGACGGATGTTTATCTGGTCCC -3'

Posted On

2013-05-09