Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Col4a4'

595536

Institutional Source

Beutler Lab

Gene Symbol

Col4a4

Ensembl Gene

ENSMUSG00000067158

Gene Name

collagen, type IV, alpha 4

Synonyms

E130010M05Rik, [a]4(IV)

MMRRC Submission

Accession Numbers

Genbank: NM_007735; MGI: 104687

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82448423-82586849 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 82528793 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 269 (M269V)

Ref Sequence

ENSEMBL: ENSMUSP00000084282 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087050]

AlphaFold

Q9QZR9

Predicted Effect

unknown
Transcript: ENSMUST00000087050
AA Change: M269V

SMART Domains

Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: M269V

Domain	Start	End	E-Value	Type
low complexity region	29	41	N/A	INTRINSIC
Pfam:Collagen	54	113	4e-11	PFAM
Pfam:Collagen	110	168	4.1e-10	PFAM
Pfam:Collagen	172	229	2.8e-10	PFAM
low complexity region	265	288	N/A	INTRINSIC
internal_repeat_7	289	345	1.46e-9	PROSPERO
internal_repeat_6	291	348	5.03e-10	PROSPERO
internal_repeat_9	297	353	7.22e-9	PROSPERO
internal_repeat_4	322	354	2.06e-11	PROSPERO
internal_repeat_11	334	349	1.25e-5	PROSPERO
Pfam:Collagen	392	449	1.3e-8	PFAM
low complexity region	461	482	N/A	INTRINSIC
Pfam:Collagen	486	553	1e-10	PFAM
low complexity region	563	595	N/A	INTRINSIC
Pfam:Collagen	597	658	1e-8	PFAM
Pfam:Collagen	663	731	4.4e-10	PFAM
Pfam:Collagen	755	810	3.3e-9	PFAM
internal_repeat_2	816	841	2.9e-13	PROSPERO
Pfam:Collagen	844	912	1.8e-10	PFAM
Pfam:Collagen	898	962	2.7e-10	PFAM
low complexity region	963	1003	N/A	INTRINSIC
Pfam:Collagen	1006	1071	2e-10	PFAM
Pfam:Collagen	1073	1132	5.8e-12	PFAM
Pfam:Collagen	1124	1185	1.8e-10	PFAM
Pfam:Collagen	1187	1245	2.3e-8	PFAM
low complexity region	1277	1361	N/A	INTRINSIC
low complexity region	1371	1384	N/A	INTRINSIC
Pfam:Collagen	1395	1454	4.3e-8	PFAM
C4	1457	1564	3.36e-58	SMART
C4	1565	1681	1.49e-59	SMART

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced mutation develop an early nephritic syndrome associated with uremia, proteinuria, hematuria, leukocyturia, and focal segmental glomerulosclerosis, and die prematurely of kidney failure. Some homozygotes exhibit moderatesensorineural hearing loss. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Piwil2	C	T	14: 70,394,057	R646Q	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	Het

Other mutations in Col4a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col4a4	APN	1	82491641	missense	unknown
IGL01092:Col4a4	APN	1	82466545	missense	unknown
IGL01104:Col4a4	APN	1	82466545	missense	unknown
IGL01413:Col4a4	APN	1	82471248	missense	unknown
IGL01518:Col4a4	APN	1	82455759	missense	unknown
IGL02014:Col4a4	APN	1	82523960	splice site	probably benign
IGL02215:Col4a4	APN	1	82453809	missense	unknown
IGL02707:Col4a4	APN	1	82493516	missense	unknown
IGL02858:Col4a4	APN	1	82528483	missense	unknown
IGL02987:Col4a4	APN	1	82498925	splice site	probably benign
IGL03384:Col4a4	APN	1	82484438	missense	probably benign	0.04
amazement	UTSW	1	82480486	nonsense	probably null
aoba	UTSW	1	82535740	critical splice donor site	probably benign
asombro	UTSW	1	82489009	critical splice donor site	probably null
astonishment	UTSW	1	82455728	missense	unknown
wonderment	UTSW	1	82453144	missense	unknown
IGL02980:Col4a4	UTSW	1	82469477	critical splice donor site	probably null
R0028:Col4a4	UTSW	1	82487510	critical splice donor site	probably null
R0083:Col4a4	UTSW	1	82507111	critical splice acceptor site	probably null
R0696:Col4a4	UTSW	1	82492549	missense	unknown
R0788:Col4a4	UTSW	1	82524996	missense	unknown
R0789:Col4a4	UTSW	1	82524996	missense	unknown
R0790:Col4a4	UTSW	1	82524996	missense	unknown
R0894:Col4a4	UTSW	1	82529656	splice site	probably null
R1217:Col4a4	UTSW	1	82489009	critical splice donor site	probably null
R1465:Col4a4	UTSW	1	82497822	splice site	probably null
R1465:Col4a4	UTSW	1	82497822	splice site	probably null
R1474:Col4a4	UTSW	1	82480486	nonsense	probably null
R1508:Col4a4	UTSW	1	82455836	missense	unknown
R1640:Col4a4	UTSW	1	82535770	missense	unknown
R1678:Col4a4	UTSW	1	82486659	missense	unknown
R1827:Col4a4	UTSW	1	82539988	missense	unknown
R1930:Col4a4	UTSW	1	82466600	splice site	probably null
R1931:Col4a4	UTSW	1	82466600	splice site	probably null
R2092:Col4a4	UTSW	1	82498946	missense	unknown
R2122:Col4a4	UTSW	1	82456871	missense	unknown
R2132:Col4a4	UTSW	1	82497860	missense	unknown
R2396:Col4a4	UTSW	1	82507072	missense	unknown
R2418:Col4a4	UTSW	1	82532936	missense	unknown
R2679:Col4a4	UTSW	1	82529611	missense	unknown
R3085:Col4a4	UTSW	1	82529564	critical splice donor site	probably null
R3437:Col4a4	UTSW	1	82497168	missense	unknown
R3697:Col4a4	UTSW	1	82541237	missense	unknown
R3730:Col4a4	UTSW	1	82455751	splice site	probably null
R3752:Col4a4	UTSW	1	82480494	missense	probably damaging	0.97
R4085:Col4a4	UTSW	1	82471188	critical splice donor site	probably null
R4087:Col4a4	UTSW	1	82523922	missense	unknown
R4088:Col4a4	UTSW	1	82523922	missense	unknown
R4090:Col4a4	UTSW	1	82523922	missense	unknown
R4213:Col4a4	UTSW	1	82453144	missense	unknown
R4422:Col4a4	UTSW	1	82489838	missense	unknown
R4596:Col4a4	UTSW	1	82471219	missense	unknown
R4755:Col4a4	UTSW	1	82541174	missense	unknown
R4757:Col4a4	UTSW	1	82528466	missense	unknown
R4793:Col4a4	UTSW	1	82539099	missense	unknown
R4812:Col4a4	UTSW	1	82462153	missense	unknown
R4833:Col4a4	UTSW	1	82529602	missense	unknown
R5259:Col4a4	UTSW	1	82453893	missense	unknown
R5264:Col4a4	UTSW	1	82493591	missense	unknown
R5265:Col4a4	UTSW	1	82493591	missense	unknown
R5281:Col4a4	UTSW	1	82493591	missense	unknown
R5283:Col4a4	UTSW	1	82493591	missense	unknown
R5284:Col4a4	UTSW	1	82493591	missense	unknown
R5387:Col4a4	UTSW	1	82493591	missense	unknown
R5388:Col4a4	UTSW	1	82493591	missense	unknown
R5435:Col4a4	UTSW	1	82454007	missense	unknown
R5534:Col4a4	UTSW	1	82487517	missense	unknown
R5666:Col4a4	UTSW	1	82485579	critical splice donor site	probably null
R5670:Col4a4	UTSW	1	82485579	critical splice donor site	probably null
R5943:Col4a4	UTSW	1	82525016	missense	unknown
R5996:Col4a4	UTSW	1	82455728	missense	unknown
R5999:Col4a4	UTSW	1	82492619	missense	unknown
R6112:Col4a4	UTSW	1	82453883	missense	unknown
R6192:Col4a4	UTSW	1	82484430	missense	probably damaging	1.00
R6237:Col4a4	UTSW	1	82507031	missense	unknown
R6419:Col4a4	UTSW	1	82466486	critical splice donor site	probably null
R6458:Col4a4	UTSW	1	82455825	missense	unknown
R6460:Col4a4	UTSW	1	82466532	missense	unknown
R6481:Col4a4	UTSW	1	82453778	missense	unknown
R6522:Col4a4	UTSW	1	82487583	missense	unknown
R7000:Col4a4	UTSW	1	82497330	missense	unknown
R7015:Col4a4	UTSW	1	82506950	missense	unknown
R7055:Col4a4	UTSW	1	82519036	missense	unknown
R7288:Col4a4	UTSW	1	82492463	missense	unknown
R7293:Col4a4	UTSW	1	82523943	missense	unknown
R7300:Col4a4	UTSW	1	82486640	missense	unknown
R7458:Col4a4	UTSW	1	82498948	missense	unknown
R7520:Col4a4	UTSW	1	82507087	nonsense	probably null
R7803:Col4a4	UTSW	1	82489698	critical splice donor site	probably null
R7953:Col4a4	UTSW	1	82453968	missense	unknown
R7959:Col4a4	UTSW	1	82507059	missense	unknown
R7982:Col4a4	UTSW	1	82571441	start gained	probably benign
R8000:Col4a4	UTSW	1	82541297	missense	unknown
R8057:Col4a4	UTSW	1	82523870	missense	unknown
R8126:Col4a4	UTSW	1	82453286	missense	unknown
R8406:Col4a4	UTSW	1	82523890	missense	unknown
R8699:Col4a4	UTSW	1	82455734	missense	unknown
R8835:Col4a4	UTSW	1	82469592	missense	unknown
R8916:Col4a4	UTSW	1	82523946	missense	unknown
R8921:Col4a4	UTSW	1	82453812	missense	unknown
R8990:Col4a4	UTSW	1	82495834	missense	unknown
R9002:Col4a4	UTSW	1	82471311	missense	probably benign	0.26
R9116:Col4a4	UTSW	1	82454031	missense	unknown
R9176:Col4a4	UTSW	1	82485628	missense	unknown
R9211:Col4a4	UTSW	1	82528780	missense	unknown
R9246:Col4a4	UTSW	1	82453235	missense	unknown
R9463:Col4a4	UTSW	1	82453355	missense	unknown
R9666:Col4a4	UTSW	1	82518949	missense	unknown
R9686:Col4a4	UTSW	1	82497241	missense	unknown
R9705:Col4a4	UTSW	1	82487592	missense	unknown
R9749:Col4a4	UTSW	1	82485632	missense	unknown
R9774:Col4a4	UTSW	1	82506944	critical splice donor site	probably null
X0020:Col4a4	UTSW	1	82539952	critical splice donor site	probably null
Z1088:Col4a4	UTSW	1	82453196	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCAACAGTTTAAAGAGAGCAACTTC -3'
(R):5'- TGCTTTTCCCATGGACCCAAG -3'

Sequencing Primer
(F):5'- AGCAACTTCCTTAGAATGGAGG -3'
(R):5'- CCAGGGATACAGATGTACTTCGGTC -3'

Posted On

2019-11-12