Incidental Mutation 'R4422:Col4a4'
ID 327123
Institutional Source Beutler Lab
Gene Symbol Col4a4
Ensembl Gene ENSMUSG00000067158
Gene Name collagen, type IV, alpha 4
Synonyms E130010M05Rik, [a]4(IV)
MMRRC Submission 041695-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R4422 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 82426144-82564570 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 82467559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 852 (M852L)
Ref Sequence ENSEMBL: ENSMUSP00000084282 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087050]
AlphaFold Q9QZR9
Predicted Effect unknown
Transcript: ENSMUST00000087050
AA Change: M852L
SMART Domains Protein: ENSMUSP00000084282
Gene: ENSMUSG00000067158
AA Change: M852L

DomainStartEndE-ValueType
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 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (67/70)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts13 T C 2: 26,895,412 (GRCm39) S1168P probably benign Het
Adgrf2 T C 17: 43,024,046 (GRCm39) M142V probably benign Het
Akna G T 4: 63,305,330 (GRCm39) Q479K possibly damaging Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
AW551984 A T 9: 39,511,373 (GRCm39) C111S probably null Het
Bak1 C A 17: 27,240,298 (GRCm39) G130W probably damaging Het
Bank1 T A 3: 135,788,972 (GRCm39) Q441L probably damaging Het
C030034I22Rik T C 17: 69,725,153 (GRCm39) noncoding transcript Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cct7 A G 6: 85,444,127 (GRCm39) R355G probably damaging Het
Cd19 C T 7: 126,012,578 (GRCm39) V272I probably benign Het
Cenpf A G 1: 189,390,547 (GRCm39) L1095S probably damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Chrm3 A T 13: 9,928,591 (GRCm39) Y148* probably null Het
Chrnb3 T C 8: 27,886,761 (GRCm39) V445A possibly damaging Het
Dhx29 T C 13: 113,083,781 (GRCm39) L612P probably damaging Het
Dlgap2 T C 8: 14,793,463 (GRCm39) probably null Het
Dnah17 T C 11: 117,972,799 (GRCm39) T2045A possibly damaging Het
Dync1li1 A G 9: 114,538,377 (GRCm39) T245A probably damaging Het
Epha4 T C 1: 77,488,354 (GRCm39) E42G probably damaging Het
Fam120b C A 17: 15,622,445 (GRCm39) T141K probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Gcnt2 T G 13: 41,014,001 (GRCm39) Y57* probably null Het
Gm5409 C T 6: 41,396,519 (GRCm39) noncoding transcript Het
Hip1r A G 5: 124,135,069 (GRCm39) K402E possibly damaging Het
Hlcs G A 16: 93,939,819 (GRCm39) P506L possibly damaging Het
Itih4 T A 14: 30,611,821 (GRCm39) F142I probably damaging Het
Krt78 T C 15: 101,856,375 (GRCm39) T479A probably benign Het
Lamb2 A G 9: 108,360,754 (GRCm39) D518G probably damaging Het
Ldlr G A 9: 21,649,248 (GRCm39) C341Y probably damaging Het
Lsr G T 7: 30,665,422 (GRCm39) N177K probably benign Het
Macf1 G A 4: 123,359,839 (GRCm39) S1815F probably damaging Het
Mms22l T C 4: 24,503,008 (GRCm39) S95P probably damaging Het
Mon2 A G 10: 122,878,887 (GRCm39) L218P probably damaging Het
Nlrp4f C T 13: 65,332,776 (GRCm39) probably null Het
Nrde2 G A 12: 100,112,286 (GRCm39) Q137* probably null Het
Or12e10 C A 2: 87,640,989 (GRCm39) T275K probably damaging Het
Or51l14 G T 7: 103,101,450 (GRCm39) R302L probably damaging Het
Or6z7 G T 7: 6,484,037 (GRCm39) Y39* probably null Het
Phf24 G A 4: 42,934,817 (GRCm39) C151Y probably damaging Het
Pik3r1 T G 13: 101,830,892 (GRCm39) N3T probably benign Het
Plcb2 T C 2: 118,542,484 (GRCm39) K821E probably benign Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Prelid2 T C 18: 42,045,461 (GRCm39) T150A probably benign Het
Psg21 A G 7: 18,381,257 (GRCm39) S429P probably damaging Het
Reg4 T C 3: 98,140,360 (GRCm39) Y114H possibly damaging Het
Rsbn1l G T 5: 21,101,544 (GRCm39) H665Q probably damaging Het
Rspo2 T C 15: 43,033,150 (GRCm39) N24S probably benign Het
Ryr2 G T 13: 11,731,952 (GRCm39) C2329* probably null Het
Skint2 T A 4: 112,441,785 (GRCm39) probably benign Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tmem53 T C 4: 117,123,149 (GRCm39) Y37H probably damaging Het
Tmem59l G A 8: 70,938,749 (GRCm39) R111W probably damaging Het
Tnks2 G A 19: 36,823,053 (GRCm39) V107I probably damaging Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Tubgcp4 T A 2: 121,019,882 (GRCm39) L404* probably null Het
Vmn2r86 T C 10: 130,288,845 (GRCm39) I219V possibly damaging Het
Vsig10 T C 5: 117,462,986 (GRCm39) S71P probably benign Het
Wnk1 T C 6: 119,930,856 (GRCm39) N896S probably benign Het
Zfp871 T A 17: 32,993,808 (GRCm39) S437C probably benign Het
Zfp871 C A 17: 32,993,807 (GRCm39) S456I probably benign Het
Zfp873 A G 10: 81,896,708 (GRCm39) T480A probably benign Het
Other mutations in Col4a4
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TTACCTAACCAGTTTGTCTGACAG -3'
(R):5'- GGCAAATGAAAAGTTACTCTGACAC -3'

Sequencing Primer
(F):5'- ACCAGTTTGTCTGACAGTTGATTTTG -3'
(R):5'- TGAAAAGTTACTCTGACACTTTAGC -3'
Posted On 2015-07-07