Mutagenetix > Incidental Mutation

Incidental Mutation 'R5283:Col4a4'

402846

Institutional Source

Beutler Lab

Gene Symbol

Col4a4

Ensembl Gene

ENSMUSG00000067158

Gene Name

collagen, type IV, alpha 4

Synonyms

E130010M05Rik, [a]4(IV)

MMRRC Submission

042868-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R5283 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82426144-82564570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82471312 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 681 (G681E)

Ref Sequence

ENSEMBL: ENSMUSP00000084282 (fasta)

Gene Model

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

AlphaFold

Q9QZR9

Predicted Effect

unknown
Transcript: ENSMUST00000087050
AA Change: G681E

SMART Domains

Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: G681E

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

0.9291

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.7%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	T	1: 74,323,165 (GRCm39)	E53K	possibly damaging	Het
Amotl1	T	C	9: 14,469,780 (GRCm39)	E651G	probably damaging	Het
Ankrd11	A	C	8: 123,610,921 (GRCm39)	V2655G	probably damaging	Het
Apbb1ip	G	A	2: 22,757,683 (GRCm39)	V434M	probably benign	Het
Atp5pd	T	C	11: 115,306,611 (GRCm39)	Y150C	probably damaging	Het
Ccdc13	T	A	9: 121,637,254 (GRCm39)	D75V	probably damaging	Het
Crh	T	C	3: 19,748,171 (GRCm39)	H157R	probably damaging	Het
Cstdc6	T	C	16: 36,142,205 (GRCm39)	D57G	probably damaging	Het
Dpp4	G	A	2: 62,190,680 (GRCm39)	T392I	probably damaging	Het
Ehd3	G	T	17: 74,127,498 (GRCm39)	A144S	probably benign	Het
Fnip2	A	T	3: 79,373,015 (GRCm39)	I1021N	probably damaging	Het
Fus	T	A	7: 127,584,719 (GRCm39)		probably benign	Het
Glo1	T	C	17: 30,819,047 (GRCm39)	T92A	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm15130	A	C	2: 110,965,754 (GRCm39)	M165R	unknown	Het
Gon4l	T	C	3: 88,794,897 (GRCm39)	L700P	probably damaging	Het
Grm1	C	A	10: 10,608,936 (GRCm39)	D566Y	possibly damaging	Het
Guca1b	T	C	17: 47,702,195 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,600,747 (GRCm39)	M70V	probably damaging	Het
Hydin	G	T	8: 111,178,612 (GRCm39)	C1069F	possibly damaging	Het
Ints1	A	C	5: 139,750,137 (GRCm39)	L920R	probably damaging	Het
Kdm2a	T	C	19: 4,381,297 (GRCm39)	I54V	probably benign	Het
Kpna2	G	A	11: 106,881,658 (GRCm39)	T324I	probably damaging	Het
Lrr1	T	C	12: 69,221,428 (GRCm39)	L190S	probably damaging	Het
Lrrc49	A	T	9: 60,594,461 (GRCm39)	H16Q	probably benign	Het
Mab21l4	C	T	1: 93,087,575 (GRCm39)	D93N	probably benign	Het
Mapkap1	A	G	2: 34,334,360 (GRCm39)	E147G	probably damaging	Het
Mrpl2	C	T	17: 46,959,992 (GRCm39)	R219W	possibly damaging	Het
Muc21	A	G	17: 35,932,224 (GRCm39)		probably benign	Het
Ndc80	A	G	17: 71,828,130 (GRCm39)	S66P	probably benign	Het
Notch1	A	G	2: 26,358,638 (GRCm39)	Y1398H	probably damaging	Het
Olfml2b	C	T	1: 170,508,758 (GRCm39)	R539*	probably null	Het
Or6b9	T	A	7: 106,555,955 (GRCm39)	T63S	probably benign	Het
Pde7a	T	C	3: 19,314,420 (GRCm39)	T59A	probably damaging	Het
Plekhg1	G	A	10: 3,906,654 (GRCm39)	V524I	probably benign	Het
Plin4	T	A	17: 56,413,777 (GRCm39)	M283L	probably benign	Het
Prp2	C	T	6: 132,577,606 (GRCm39)	P298S	unknown	Het
Rap1gap2	G	A	11: 74,286,651 (GRCm39)	R550C	probably damaging	Het
Reln	G	A	5: 22,216,161 (GRCm39)	T1008I	probably damaging	Het
Rffl	T	C	11: 82,703,615 (GRCm39)	K103E	probably damaging	Het
Rmnd5b	A	T	11: 51,517,887 (GRCm39)	F156I	probably damaging	Het
Rtn4ip1	T	C	10: 43,778,461 (GRCm39)	I68T	probably damaging	Het
Samhd1	T	C	2: 156,951,412 (GRCm39)	I442V	possibly damaging	Het
Slc12a4	A	T	8: 106,677,326 (GRCm39)		probably null	Het
Slc35b1	G	T	11: 95,275,814 (GRCm39)		probably benign	Het
Ssh1	A	G	5: 114,088,606 (GRCm39)	V354A	probably damaging	Het
Stk33	T	C	7: 108,935,334 (GRCm39)	K153E	possibly damaging	Het
Stk4	C	T	2: 163,952,199 (GRCm39)	R19*	probably null	Het
Tas2r136	A	T	6: 132,754,374 (GRCm39)	I251N	probably damaging	Het
Tbr1	A	T	2: 61,635,244 (GRCm39)	T65S	probably benign	Het
Tkt	C	T	14: 30,282,575 (GRCm39)	S124F	probably damaging	Het
Tll1	T	C	8: 64,555,000 (GRCm39)	I228V	possibly damaging	Het
Tmem236	A	G	2: 14,179,644 (GRCm39)	I82V	probably benign	Het
Vmn2r110	T	C	17: 20,800,899 (GRCm39)	Q511R	probably benign	Het
Vmn2r98	T	C	17: 19,300,981 (GRCm39)	M661T	probably benign	Het
Vps13a	T	A	19: 16,655,334 (GRCm39)	K1898I	probably damaging	Het
Zc3h12a	T	C	4: 125,020,558 (GRCm39)	E95G	probably benign	Het

Other mutations in Col4a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Col4a4	APN	1	82,469,362 (GRCm39)	missense	unknown
IGL01092:Col4a4	APN	1	82,444,266 (GRCm39)	missense	unknown
IGL01104:Col4a4	APN	1	82,444,266 (GRCm39)	missense	unknown
IGL01413:Col4a4	APN	1	82,448,969 (GRCm39)	missense	unknown
IGL01518:Col4a4	APN	1	82,433,480 (GRCm39)	missense	unknown
IGL02014:Col4a4	APN	1	82,501,681 (GRCm39)	splice site	probably benign
IGL02215:Col4a4	APN	1	82,431,530 (GRCm39)	missense	unknown
IGL02707:Col4a4	APN	1	82,471,237 (GRCm39)	missense	unknown
IGL02858:Col4a4	APN	1	82,506,204 (GRCm39)	missense	unknown
IGL02987:Col4a4	APN	1	82,476,646 (GRCm39)	splice site	probably benign
IGL03384:Col4a4	APN	1	82,462,159 (GRCm39)	missense	probably benign	0.04
amazement	UTSW	1	82,458,207 (GRCm39)	nonsense	probably null
aoba	UTSW	1	82,513,461 (GRCm39)	critical splice donor site	probably benign
asombro	UTSW	1	82,466,730 (GRCm39)	critical splice donor site	probably null
astonishment	UTSW	1	82,433,449 (GRCm39)	missense	unknown
wonderment	UTSW	1	82,430,865 (GRCm39)	missense	unknown
IGL02980:Col4a4	UTSW	1	82,447,198 (GRCm39)	critical splice donor site	probably null
R0028:Col4a4	UTSW	1	82,465,231 (GRCm39)	critical splice donor site	probably null
R0083:Col4a4	UTSW	1	82,484,832 (GRCm39)	critical splice acceptor site	probably null
R0696:Col4a4	UTSW	1	82,470,270 (GRCm39)	missense	unknown
R0788:Col4a4	UTSW	1	82,502,717 (GRCm39)	missense	unknown
R0789:Col4a4	UTSW	1	82,502,717 (GRCm39)	missense	unknown
R0790:Col4a4	UTSW	1	82,502,717 (GRCm39)	missense	unknown
R0894:Col4a4	UTSW	1	82,507,377 (GRCm39)	splice site	probably null
R1217:Col4a4	UTSW	1	82,466,730 (GRCm39)	critical splice donor site	probably null
R1465:Col4a4	UTSW	1	82,475,543 (GRCm39)	splice site	probably null
R1465:Col4a4	UTSW	1	82,475,543 (GRCm39)	splice site	probably null
R1474:Col4a4	UTSW	1	82,458,207 (GRCm39)	nonsense	probably null
R1508:Col4a4	UTSW	1	82,433,557 (GRCm39)	missense	unknown
R1640:Col4a4	UTSW	1	82,513,491 (GRCm39)	missense	unknown
R1678:Col4a4	UTSW	1	82,464,380 (GRCm39)	missense	unknown
R1827:Col4a4	UTSW	1	82,517,709 (GRCm39)	missense	unknown
R1930:Col4a4	UTSW	1	82,444,321 (GRCm39)	splice site	probably null
R1931:Col4a4	UTSW	1	82,444,321 (GRCm39)	splice site	probably null
R2092:Col4a4	UTSW	1	82,476,667 (GRCm39)	missense	unknown
R2122:Col4a4	UTSW	1	82,434,592 (GRCm39)	missense	unknown
R2132:Col4a4	UTSW	1	82,475,581 (GRCm39)	missense	unknown
R2396:Col4a4	UTSW	1	82,484,793 (GRCm39)	missense	unknown
R2418:Col4a4	UTSW	1	82,510,657 (GRCm39)	missense	unknown
R2679:Col4a4	UTSW	1	82,507,332 (GRCm39)	missense	unknown
R3085:Col4a4	UTSW	1	82,507,285 (GRCm39)	critical splice donor site	probably null
R3437:Col4a4	UTSW	1	82,474,889 (GRCm39)	missense	unknown
R3697:Col4a4	UTSW	1	82,518,958 (GRCm39)	missense	unknown
R3730:Col4a4	UTSW	1	82,433,472 (GRCm39)	splice site	probably null
R3752:Col4a4	UTSW	1	82,458,215 (GRCm39)	missense	probably damaging	0.97
R4085:Col4a4	UTSW	1	82,448,909 (GRCm39)	critical splice donor site	probably null
R4087:Col4a4	UTSW	1	82,501,643 (GRCm39)	missense	unknown
R4088:Col4a4	UTSW	1	82,501,643 (GRCm39)	missense	unknown
R4090:Col4a4	UTSW	1	82,501,643 (GRCm39)	missense	unknown
R4213:Col4a4	UTSW	1	82,430,865 (GRCm39)	missense	unknown
R4422:Col4a4	UTSW	1	82,467,559 (GRCm39)	missense	unknown
R4596:Col4a4	UTSW	1	82,448,940 (GRCm39)	missense	unknown
R4755:Col4a4	UTSW	1	82,518,895 (GRCm39)	missense	unknown
R4757:Col4a4	UTSW	1	82,506,187 (GRCm39)	missense	unknown
R4793:Col4a4	UTSW	1	82,516,820 (GRCm39)	missense	unknown
R4812:Col4a4	UTSW	1	82,439,874 (GRCm39)	missense	unknown
R4833:Col4a4	UTSW	1	82,507,323 (GRCm39)	missense	unknown
R5259:Col4a4	UTSW	1	82,431,614 (GRCm39)	missense	unknown
R5264:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5265:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5281:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5284:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5387:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5388:Col4a4	UTSW	1	82,471,312 (GRCm39)	missense	unknown
R5435:Col4a4	UTSW	1	82,431,728 (GRCm39)	missense	unknown
R5534:Col4a4	UTSW	1	82,465,238 (GRCm39)	missense	unknown
R5666:Col4a4	UTSW	1	82,463,300 (GRCm39)	critical splice donor site	probably null
R5670:Col4a4	UTSW	1	82,463,300 (GRCm39)	critical splice donor site	probably null
R5943:Col4a4	UTSW	1	82,502,737 (GRCm39)	missense	unknown
R5996:Col4a4	UTSW	1	82,433,449 (GRCm39)	missense	unknown
R5999:Col4a4	UTSW	1	82,470,340 (GRCm39)	missense	unknown
R6112:Col4a4	UTSW	1	82,431,604 (GRCm39)	missense	unknown
R6192:Col4a4	UTSW	1	82,462,151 (GRCm39)	missense	probably damaging	1.00
R6237:Col4a4	UTSW	1	82,484,752 (GRCm39)	missense	unknown
R6419:Col4a4	UTSW	1	82,444,207 (GRCm39)	critical splice donor site	probably null
R6458:Col4a4	UTSW	1	82,433,546 (GRCm39)	missense	unknown
R6460:Col4a4	UTSW	1	82,444,253 (GRCm39)	missense	unknown
R6481:Col4a4	UTSW	1	82,431,499 (GRCm39)	missense	unknown
R6522:Col4a4	UTSW	1	82,465,304 (GRCm39)	missense	unknown
R7000:Col4a4	UTSW	1	82,475,051 (GRCm39)	missense	unknown
R7015:Col4a4	UTSW	1	82,484,671 (GRCm39)	missense	unknown
R7055:Col4a4	UTSW	1	82,496,757 (GRCm39)	missense	unknown
R7288:Col4a4	UTSW	1	82,470,184 (GRCm39)	missense	unknown
R7293:Col4a4	UTSW	1	82,501,664 (GRCm39)	missense	unknown
R7300:Col4a4	UTSW	1	82,464,361 (GRCm39)	missense	unknown
R7458:Col4a4	UTSW	1	82,476,669 (GRCm39)	missense	unknown
R7520:Col4a4	UTSW	1	82,484,808 (GRCm39)	nonsense	probably null
R7727:Col4a4	UTSW	1	82,506,514 (GRCm39)	missense	unknown
R7803:Col4a4	UTSW	1	82,467,419 (GRCm39)	critical splice donor site	probably null
R7953:Col4a4	UTSW	1	82,431,689 (GRCm39)	missense	unknown
R7959:Col4a4	UTSW	1	82,484,780 (GRCm39)	missense	unknown
R7982:Col4a4	UTSW	1	82,549,162 (GRCm39)	start gained	probably benign
R8000:Col4a4	UTSW	1	82,519,018 (GRCm39)	missense	unknown
R8057:Col4a4	UTSW	1	82,501,591 (GRCm39)	missense	unknown
R8126:Col4a4	UTSW	1	82,431,007 (GRCm39)	missense	unknown
R8406:Col4a4	UTSW	1	82,501,611 (GRCm39)	missense	unknown
R8699:Col4a4	UTSW	1	82,433,455 (GRCm39)	missense	unknown
R8835:Col4a4	UTSW	1	82,447,313 (GRCm39)	missense	unknown
R8916:Col4a4	UTSW	1	82,501,667 (GRCm39)	missense	unknown
R8921:Col4a4	UTSW	1	82,431,533 (GRCm39)	missense	unknown
R8990:Col4a4	UTSW	1	82,473,555 (GRCm39)	missense	unknown
R9002:Col4a4	UTSW	1	82,449,032 (GRCm39)	missense	probably benign	0.26
R9116:Col4a4	UTSW	1	82,431,752 (GRCm39)	missense	unknown
R9176:Col4a4	UTSW	1	82,463,349 (GRCm39)	missense	unknown
R9211:Col4a4	UTSW	1	82,506,501 (GRCm39)	missense	unknown
R9246:Col4a4	UTSW	1	82,430,956 (GRCm39)	missense	unknown
R9463:Col4a4	UTSW	1	82,431,076 (GRCm39)	missense	unknown
R9666:Col4a4	UTSW	1	82,496,670 (GRCm39)	missense	unknown
R9686:Col4a4	UTSW	1	82,474,962 (GRCm39)	missense	unknown
R9705:Col4a4	UTSW	1	82,465,313 (GRCm39)	missense	unknown
R9749:Col4a4	UTSW	1	82,463,353 (GRCm39)	missense	unknown
R9774:Col4a4	UTSW	1	82,484,665 (GRCm39)	critical splice donor site	probably null
X0020:Col4a4	UTSW	1	82,517,673 (GRCm39)	critical splice donor site	probably null
Z1088:Col4a4	UTSW	1	82,430,917 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATAGCTGAGGGTCTGTGTCC -3'
(R):5'- CCACACTGGAAAACTTTTGGGG -3'

Sequencing Primer
(F):5'- AGGGTCTGTGTCCCCCAAC -3'
(R):5'- CCATGAAGGGATGCTGCTTAC -3'

Posted On

2016-07-22