Mutagenetix > Incidental Mutation

Incidental Mutation 'R0941:Col4a1'

82584

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

039080-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0941 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11248423-11362826 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11258296 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 1396 (G1396S)

Ref Sequence

ENSEMBL: ENSMUSP00000147951 (fasta)

Gene Model

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

AlphaFold

P02463

Predicted Effect

unknown
Transcript: ENSMUST00000033898
AA Change: G1396S

SMART Domains

Protein: ENSMUSP00000033898
Gene: ENSMUSG00000031502
AA Change: G1396S

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

noncoding transcript
Transcript: ENSMUST00000151014

Predicted Effect

unknown
Transcript: ENSMUST00000209598
AA Change: G79S

Predicted Effect

unknown
Transcript: ENSMUST00000209735
AA Change: G1396S

Meta Mutation Damage Score

0.9334

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 96.9%
20x: 93.9%

Validation Efficiency

97% (36/37)

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	G	T	18: 74,931,414 (GRCm39)	M203I	probably benign	Het
Afmid	T	A	11: 117,726,071 (GRCm39)		probably benign	Het
Ahnak	A	G	19: 8,987,278 (GRCm39)	D2854G	probably damaging	Het
Amotl1	A	C	9: 14,507,854 (GRCm39)	I31S	possibly damaging	Het
Arf3	A	G	15: 98,638,984 (GRCm39)	V91A	probably benign	Het
Atp1b1	A	C	1: 164,270,829 (GRCm39)	I50S	probably benign	Het
Baz1a	A	T	12: 54,945,216 (GRCm39)	S1380T	probably benign	Het
C4b	T	A	17: 34,959,029 (GRCm39)	T467S	probably benign	Het
Casd1	T	C	6: 4,635,848 (GRCm39)	S640P	probably damaging	Het
Extl1	TGCGTTGCACCGATACCGGG	TG	4: 134,084,988 (GRCm39)		probably benign	Het
Fhip1a	G	T	3: 85,580,366 (GRCm39)	P613Q	probably benign	Het
Gm12695	C	A	4: 96,616,454 (GRCm39)	E460*	probably null	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Gpc1	G	A	1: 92,785,031 (GRCm39)	R358H	possibly damaging	Het
Igsf8	C	T	1: 172,143,963 (GRCm39)	R39C	probably damaging	Het
Kdm3b	T	A	18: 34,936,605 (GRCm39)	C296S	probably damaging	Het
Lama1	C	T	17: 68,082,860 (GRCm39)	P1373S	probably benign	Het
Lamc1	A	G	1: 153,208,020 (GRCm39)	L89P	possibly damaging	Het
Ltc4s	T	G	11: 50,128,269 (GRCm39)		probably null	Het
Met	A	T	6: 17,491,393 (GRCm39)	I52F	probably damaging	Het
Mterf2	G	A	10: 84,955,934 (GRCm39)	T230M	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Npr1	A	T	3: 90,368,716 (GRCm39)	I448N	probably benign	Het
Or52u1	C	T	7: 104,237,545 (GRCm39)	T178I	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Serpini1	A	T	3: 75,523,934 (GRCm39)	I181F	probably damaging	Het
Shc3	T	C	13: 51,634,242 (GRCm39)	M88V	probably benign	Het
Skint6	T	A	4: 113,095,555 (GRCm39)	S35C	probably damaging	Het
Spta1	T	C	1: 174,072,771 (GRCm39)		probably benign	Het
Sult2a2	C	T	7: 13,468,815 (GRCm39)	R94*	probably null	Het
Trim9	A	G	12: 70,295,037 (GRCm39)	V787A	probably damaging	Het
Ttn	A	G	2: 76,549,367 (GRCm39)	V31770A	probably benign	Het
Unc5d	T	C	8: 29,249,055 (GRCm39)	N337D	possibly damaging	Het
Vmn2r7	A	T	3: 64,624,000 (GRCm39)	Y107N	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGCTACTCTGGAAAGCACACAC -3'
(R):5'- CTCTGCAAGAAGCAACTGGGTCTAC -3'

Sequencing Primer
(F):5'- ACCCTCAGCTCCCTCAGG -3'
(R):5'- TCTACCAGGCCCTGACG -3'

Posted On

2013-11-08