Mutagenetix > Incidental Mutation

Incidental Mutation 'R7300:Col4a4'

566903

Institutional Source

Beutler Lab

Gene Symbol

Col4a4

Ensembl Gene

ENSMUSG00000067158

Gene Name

collagen, type IV, alpha 4

Synonyms

E130010M05Rik, [a]4(IV)

MMRRC Submission

045404-MU

Accession Numbers

Essential gene?

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

Stock #

R7300 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82426144-82564570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 82464361 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 989 (R989Q)

Ref Sequence

ENSEMBL: ENSMUSP00000084282 (fasta)

Gene Model

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

AlphaFold

Q9QZR9

Predicted Effect

unknown
Transcript: ENSMUST00000087050
AA Change: R989Q

SMART Domains

Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: R989Q

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (45/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Adgrd1	T	C	5: 129,174,411 (GRCm39)		probably null	Het
Atr	T	C	9: 95,747,423 (GRCm39)	I235T	probably benign	Het
Bpifb5	A	G	2: 154,070,066 (GRCm39)	E172G	possibly damaging	Het
Btbd2	A	T	10: 80,480,100 (GRCm39)	I420N	probably damaging	Het
Ccdc141	G	A	2: 76,845,038 (GRCm39)	T1343I	probably benign	Het
Cd59b	A	T	2: 103,914,795 (GRCm39)	K64N	possibly damaging	Het
Cd63	A	G	10: 128,748,034 (GRCm39)	N144S	probably benign	Het
Cip2a	A	G	16: 48,834,217 (GRCm39)	K631E	probably damaging	Het
Cyp4a31	A	G	4: 115,427,468 (GRCm39)	T225A	probably benign	Het
Dnah1	T	G	14: 30,991,798 (GRCm39)	E3068A	probably benign	Het
Fpgt	C	T	3: 154,792,612 (GRCm39)	V472I	probably damaging	Het
Gm4779	TCGGGGCCGGGGCCGGGGCCG	TCGGGGCCGGGGCCGGGGCCGGGGCCG	X: 100,837,777 (GRCm39)		probably benign	Het
Homer3	T	C	8: 70,737,953 (GRCm39)	M1T	probably null	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Il17ra	A	G	6: 120,459,063 (GRCm39)	D738G	probably benign	Het
Il2ra	A	G	2: 11,681,721 (GRCm39)	T109A	not run	Het
Itgb6	T	C	2: 60,435,650 (GRCm39)	D700G	probably benign	Het
Krt31	T	C	11: 99,938,612 (GRCm39)	E327G	probably damaging	Het
Large1	A	C	8: 73,564,224 (GRCm39)	L514R	probably damaging	Het
Map3k8	C	T	18: 4,349,076 (GRCm39)	V81M	probably damaging	Het
Mstn	T	C	1: 53,103,239 (GRCm39)	S192P	probably benign	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or13a27	A	T	7: 139,925,268 (GRCm39)	N211K	probably damaging	Het
Or2n1c	A	C	17: 38,519,588 (GRCm39)	T151P	possibly damaging	Het
Or2y1c	C	T	11: 49,361,473 (GRCm39)	T165I	probably benign	Het
Or52i2	A	G	7: 102,319,417 (GRCm39)	S97G	probably benign	Het
Or7g17	T	C	9: 18,768,530 (GRCm39)	I194T	not run	Het
Or8k25	T	C	2: 86,244,330 (GRCm39)	E22G	probably null	Het
Pde4a	T	C	9: 21,117,618 (GRCm39)	S627P	probably damaging	Het
Pdxdc1	A	G	16: 13,697,374 (GRCm39)	I102T	probably damaging	Het
Phldb2	A	G	16: 45,645,925 (GRCm39)	S174P	probably damaging	Het
Pla2g4e	C	T	2: 120,021,680 (GRCm39)	V143I	probably damaging	Het
Pou4f2	C	T	8: 79,162,735 (GRCm39)		probably null	Het
Ppl	C	T	16: 4,920,235 (GRCm39)	V387M	possibly damaging	Het
Pramel43	A	T	5: 94,760,655 (GRCm39)	D340E	probably benign	Het
Rarg	A	T	15: 102,160,852 (GRCm39)		probably null	Het
Ryr1	T	C	7: 28,758,936 (GRCm39)	Y3414C	probably damaging	Het
Serpinb8	T	A	1: 107,535,053 (GRCm39)	*375K	probably null	Het
Sim1	C	T	10: 50,785,614 (GRCm39)	H228Y	probably benign	Het
Spag4	A	T	2: 155,907,541 (GRCm39)	H87L	probably benign	Het
Ttc17	A	T	2: 94,205,479 (GRCm39)	L289Q	probably damaging	Het
Ubac2	T	C	14: 122,142,586 (GRCm39)	L28P	probably damaging	Het
Vmn2r31	C	A	7: 7,387,775 (GRCm39)	A599S	possibly damaging	Het
Vps13c	T	C	9: 67,847,826 (GRCm39)	V2196A	probably benign	Het
Zswim5	A	T	4: 116,833,102 (GRCm39)	I612F	probably damaging	Het
Zzef1	T	A	11: 72,765,830 (GRCm39)	H1452Q	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
R5283: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
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'- TGTCTTAAGGGATCCTGAGAGCAG -3'
(R):5'- GGTTGCCAAAGACAGGAACC -3'

Sequencing Primer
(F):5'- GAGAGCAGGGTTTATTTCTTCTCCC -3'
(R):5'- CACAGAGATGTGGCTTTGACTAG -3'

Posted On

2019-06-26