Mutagenetix > Incidental Mutation

Incidental Mutation 'R2058:Col4a1'

228373

Institutional Source

Beutler Lab

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

MMRRC Submission

040063-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11248423-11362826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11260792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1330 (D1330V)

Ref Sequence

ENSEMBL: ENSMUSP00000033898 (fasta)

Gene Model

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

AlphaFold

P02463

Predicted Effect

probably damaging
Transcript: ENSMUST00000033898
AA Change: D1330V

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: D1330V

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

unknown
Transcript: ENSMUST00000209598
AA Change: D13V

Predicted Effect

possibly damaging
Transcript: ENSMUST00000209735
AA Change: D1330V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

Meta Mutation Damage Score

0.0990

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

99% (94/95)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	A	T	8: 25,162,082 (GRCm39)		probably benign	Het
Adgrf5	A	G	17: 43,739,477 (GRCm39)	Y72C	possibly damaging	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Arhgef4	A	G	1: 34,761,458 (GRCm39)	K238R	unknown	Het
Atf6b	A	T	17: 34,867,549 (GRCm39)		probably null	Het
Atp2a1	G	A	7: 126,046,844 (GRCm39)	A847V	possibly damaging	Het
Baz1b	T	A	5: 135,246,079 (GRCm39)	N509K	probably benign	Het
BC051076	A	T	5: 88,111,844 (GRCm39)		noncoding transcript	Het
Cage1	A	G	13: 38,207,356 (GRCm39)	V163A	probably benign	Het
Canx	T	C	11: 50,195,252 (GRCm39)	N272S	probably damaging	Het
Cd302	T	A	2: 60,082,767 (GRCm39)	I186F	possibly damaging	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cep112	T	A	11: 108,410,087 (GRCm39)		probably null	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Ctsa	T	G	2: 164,676,822 (GRCm39)	M136R	probably null	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dmwd	T	A	7: 18,814,652 (GRCm39)	L434Q	probably damaging	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Gcc2	T	A	10: 58,121,779 (GRCm39)	S1102T	probably benign	Het
Gcm2	T	C	13: 41,263,430 (GRCm39)	M1V	probably null	Het
Gna14	G	C	19: 16,585,505 (GRCm39)		probably benign	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gulo	A	G	14: 66,228,608 (GRCm39)	V270A	possibly damaging	Het
Hps5	T	A	7: 46,417,475 (GRCm39)	D904V	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Jak3	A	T	8: 72,138,027 (GRCm39)		probably null	Het
Klhl6	T	G	16: 19,801,681 (GRCm39)	T25P	probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Map3k21	A	G	8: 126,665,461 (GRCm39)	K550R	probably benign	Het
Mphosph10	T	A	7: 64,026,499 (GRCm39)	L650F	probably damaging	Het
Mrpl48	T	C	7: 100,198,540 (GRCm39)	E204G	probably damaging	Het
Msh5	A	C	17: 35,248,732 (GRCm39)	V738G	probably damaging	Het
Mybph	G	A	1: 134,127,857 (GRCm39)	C473Y	probably damaging	Het
Nid1	A	C	13: 13,675,058 (GRCm39)	H926P	probably benign	Het
Nlrp9a	T	A	7: 26,256,787 (GRCm39)	I46K	possibly damaging	Het
Notch3	T	C	17: 32,362,618 (GRCm39)	T1336A	probably benign	Het
Nsun4	T	C	4: 115,910,877 (GRCm39)		probably null	Het
Or1e30	A	G	11: 73,678,100 (GRCm39)	N112S	probably benign	Het
Or5m10	A	T	2: 85,717,296 (GRCm39)	T51S	possibly damaging	Het
Osgin1	A	G	8: 120,172,412 (GRCm39)	D402G	possibly damaging	Het
Patl1	A	G	19: 11,909,511 (GRCm39)	E479G	possibly damaging	Het
Pbsn	T	C	X: 76,891,582 (GRCm39)	K72E	probably damaging	Het
Pcdhb13	A	G	18: 37,577,620 (GRCm39)	Q666R	possibly damaging	Het
Pi4k2b	G	A	5: 52,908,022 (GRCm39)	V131I	probably benign	Het
Pkn2	G	A	3: 142,559,232 (GRCm39)	H98Y	possibly damaging	Het
Pms1	A	G	1: 53,314,327 (GRCm39)	Y73H	probably benign	Het
Ppt2	A	T	17: 34,841,818 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Prl6a1	T	C	13: 27,503,081 (GRCm39)	Y231H	probably benign	Het
Ranbp3l	T	A	15: 9,029,641 (GRCm39)	V41D	probably damaging	Het
Rhobtb2	T	C	14: 70,031,488 (GRCm39)	T546A	possibly damaging	Het
Ripk4	A	T	16: 97,545,342 (GRCm39)	L372*	probably null	Het
Rnf126	A	G	10: 79,594,971 (GRCm39)		probably benign	Het
S100pbp	A	G	4: 129,075,893 (GRCm39)	V144A	probably benign	Het
Saal1	T	C	7: 46,348,880 (GRCm39)	Q317R	probably damaging	Het
Sap25	G	A	5: 137,641,034 (GRCm39)	G277R	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb9c	A	T	13: 33,340,854 (GRCm39)	C81*	probably null	Het
Set	A	G	2: 29,959,048 (GRCm39)	K70E	possibly damaging	Het
Setd3	A	G	12: 108,073,600 (GRCm39)	I559T	probably benign	Het
Sik1	A	G	17: 32,067,771 (GRCm39)	S435P	probably benign	Het
Skint3	A	T	4: 112,112,980 (GRCm39)	K197*	probably null	Het
Skint5	T	A	4: 113,727,897 (GRCm39)	I402F	possibly damaging	Het
Slc18a1	G	A	8: 69,496,613 (GRCm39)	T350M	probably damaging	Het
Slc19a3	A	T	1: 82,992,512 (GRCm39)	I403K	probably damaging	Het
Slc1a7	C	T	4: 107,861,636 (GRCm39)	T225I	probably benign	Het
Slc38a4	T	C	15: 96,906,606 (GRCm39)	I336V	probably benign	Het
Smarcc1	A	G	9: 109,947,411 (GRCm39)		probably benign	Het
St8sia5	A	T	18: 77,342,459 (GRCm39)	I390F	probably damaging	Het
Strc	A	T	2: 121,209,368 (GRCm39)	W290R	probably damaging	Het
Svep1	T	C	4: 58,084,554 (GRCm39)	D1858G	possibly damaging	Het
Sympk	G	A	7: 18,777,454 (GRCm39)	R568Q	probably damaging	Het
Tex44	A	C	1: 86,354,728 (GRCm39)	K212N	probably damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thrap3	C	T	4: 126,073,967 (GRCm39)	V260I	probably damaging	Het
Thsd7a	A	T	6: 12,318,105 (GRCm39)		probably benign	Het
Trim12c	A	G	7: 103,997,398 (GRCm39)	F53L	possibly damaging	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ubap2l	A	T	3: 89,938,683 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,227,740 (GRCm39)		probably null	Het
Usp17la	A	C	7: 104,510,378 (GRCm39)	T328P	probably damaging	Het
Vmn2r113	T	A	17: 23,177,223 (GRCm39)	L669*	probably null	Het
Vps13b	T	A	15: 35,841,593 (GRCm39)	V2541E	probably damaging	Het
Wnt3	T	C	11: 103,703,111 (GRCm39)	I198T	probably damaging	Het
Zfp316	T	C	5: 143,249,161 (GRCm39)	E158G	unknown	Het
Zfp362	T	G	4: 128,680,780 (GRCm39)	I182L	possibly damaging	Het
Zfp804a	A	G	2: 82,087,710 (GRCm39)	D513G	probably benign	Het
Zfp879	C	T	11: 50,723,428 (GRCm39)	E543K	probably benign	Het
Zfp97	T	A	17: 17,365,018 (GRCm39)	N172K	possibly damaging	Het
Zmym6	A	T	4: 126,982,208 (GRCm39)	K82*	probably null	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
IGL01406:Col4a1	APN	8	11,268,898 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTGCATTAACAATTCACCTG -3'
(R):5'- AGGGATGAAGCTGTGTGTAC -3'

Sequencing Primer
(F):5'- CAGCCTTGTTAGACATCAATGGG -3'
(R):5'- ATGAAGCTGTGTGTACATTTTTGC -3'

Posted On

2014-09-17