Mutagenetix > Incidental Mutation

Incidental Mutation 'R7015:Col4a4'

545232

Institutional Source

Beutler Lab

Gene Symbol

Col4a4

Ensembl Gene

ENSMUSG00000067158

Gene Name

collagen, type IV, alpha 4

Synonyms

E130010M05Rik, [a]4(IV)

MMRRC Submission

045116-MU

Accession Numbers

Essential gene?

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

Stock #

R7015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

82426144-82564570 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 82484671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 532 (P532L)

Ref Sequence

ENSEMBL: ENSMUSP00000084282 (fasta)

Gene Model

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

AlphaFold

Q9QZR9

Predicted Effect

unknown
Transcript: ENSMUST00000087050
AA Change: P532L

SMART Domains

Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: P532L

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: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

93% (55/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	A	G	1: 159,902,738 (GRCm39)	R3G	possibly damaging	Het
Abcc2	A	G	19: 43,786,617 (GRCm39)	I150V	probably benign	Het
Adgrb1	T	C	15: 74,445,959 (GRCm39)	L1085P	probably damaging	Het
Agbl4	A	G	4: 110,335,697 (GRCm39)	N24D	probably damaging	Het
Aox1	A	G	1: 58,321,917 (GRCm39)	T70A	probably benign	Het
Aplf	G	A	6: 87,618,884 (GRCm39)	A399V	probably damaging	Het
Asxl3	A	G	18: 22,656,978 (GRCm39)	S1663G	probably benign	Het
Bcat1	G	C	6: 144,985,309 (GRCm39)	P43R	probably damaging	Het
Camk1	T	C	6: 113,318,887 (GRCm39)	R9G	probably benign	Het
Casp8ap2	T	C	4: 32,644,278 (GRCm39)	V1117A	probably damaging	Het
Cd300ld4	A	T	11: 114,913,533 (GRCm39)	V174E	probably benign	Het
Cep85l	T	C	10: 53,225,151 (GRCm39)	D146G	possibly damaging	Het
Clip1	T	C	5: 123,751,675 (GRCm39)		probably benign	Het
Cog3	C	T	14: 75,950,716 (GRCm39)	V719I	possibly damaging	Het
Col6a4	C	T	9: 105,910,954 (GRCm39)		probably null	Het
Dync1h1	C	T	12: 110,632,521 (GRCm39)	Q4547*	probably null	Het
Ergic1	G	A	17: 26,873,853 (GRCm39)		probably benign	Het
Foxn4	G	A	5: 114,394,916 (GRCm39)	T337M	possibly damaging	Het
Gemin5	A	T	11: 58,047,566 (GRCm39)	I336N	probably damaging	Het
Gm21905	A	T	5: 68,103,705 (GRCm39)		probably null	Het
Grik2	C	A	10: 49,411,532 (GRCm39)	R202L	probably damaging	Het
Iglon5	T	C	7: 43,126,351 (GRCm39)	D184G	probably benign	Het
Il11ra1	A	T	4: 41,765,421 (GRCm39)	Q172L	probably benign	Het
Me2	G	T	18: 73,914,218 (GRCm39)		probably null	Het
Med24	A	G	11: 98,609,678 (GRCm39)	V73A	possibly damaging	Het
Mmp24	A	G	2: 155,634,544 (GRCm39)	Q88R	probably damaging	Het
Mroh3	A	T	1: 136,111,069 (GRCm39)	V819E	probably damaging	Het
Mrps9	A	G	1: 42,937,706 (GRCm39)	K247R	probably benign	Het
Myo15b	G	A	11: 115,762,670 (GRCm39)	R1254H		Het
Ncoa5	A	G	2: 164,844,001 (GRCm39)	L134P	probably benign	Het
Or4d5	A	T	9: 40,012,751 (GRCm39)	F12I	probably benign	Het
Or51e2	C	A	7: 102,391,651 (GRCm39)	L186F	probably damaging	Het
Or52a24	T	C	7: 103,382,024 (GRCm39)	V297A	probably null	Het
Pdcd11	A	G	19: 47,086,665 (GRCm39)	I224V	probably benign	Het
Ptprh	C	A	7: 4,555,626 (GRCm39)		probably null	Het
Rab34	G	T	11: 78,080,978 (GRCm39)	V63F	probably damaging	Het
Rack1	T	C	11: 48,692,592 (GRCm39)	I71T	probably benign	Het
Rai14	G	A	15: 10,589,401 (GRCm39)	R266*	probably null	Het
Rsph9	A	G	17: 46,440,382 (GRCm39)	V238A	probably benign	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Sel1l3	A	T	5: 53,329,916 (GRCm39)	C480S	probably benign	Het
Sh3pxd2a	C	T	19: 47,256,562 (GRCm39)	A747T	probably benign	Het
Slc1a3	T	C	15: 8,679,052 (GRCm39)	N181S	probably damaging	Het
Slit1	T	A	19: 41,618,325 (GRCm39)	K784*	probably null	Het
Sos2	T	A	12: 69,632,009 (GRCm39)	Q1297L	probably benign	Het
Srd5a2	T	A	17: 74,334,114 (GRCm39)	T102S	probably benign	Het
Ss18l2	A	T	9: 121,541,674 (GRCm39)	I64F	probably damaging	Het
Tas2r120	T	C	6: 132,634,128 (GRCm39)	F70S	possibly damaging	Het
Tjap1	G	A	17: 46,574,700 (GRCm39)	A5V	possibly damaging	Het
Tln2	A	T	9: 67,269,929 (GRCm39)	M488K	possibly damaging	Het
Tnks	T	G	8: 35,305,701 (GRCm39)	I42L	probably benign	Het
Togaram2	A	T	17: 72,016,563 (GRCm39)	Q640L	possibly damaging	Het
Triobp	C	A	15: 78,878,260 (GRCm39)	Q1682K	probably damaging	Het
Trip11	C	T	12: 101,859,942 (GRCm39)	E311K	probably damaging	Het
Ugt2b5	A	G	5: 87,287,655 (GRCm39)	Y171H	probably damaging	Het
Vmn2r66	T	C	7: 84,644,766 (GRCm39)	D548G	possibly damaging	Het
Zfp990	G	T	4: 145,263,205 (GRCm39)	D68Y	probably damaging	Het
Zranb2	A	T	3: 157,242,370 (GRCm39)		probably null	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
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'- TTCTCCAAAGCTCCAGAACTTC -3'
(R):5'- CCTCTGTCTAGGAAACAAGGG -3'

Sequencing Primer
(F):5'- TCATGCCTGGGACACAGTAGAC -3'
(R):5'- CTCTGTCTAGGAAACAAGGGACTCTG -3'

Posted On

2019-05-13