Incidental Mutation 'IGL02859:Col4a5'
ID 362094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col4a5
Ensembl Gene ENSMUSG00000031274
Gene Name collagen, type IV, alpha 5
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02859
Quality Score
Status
Chromosome X
Chromosomal Location 140258381-140472230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 140392846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 484 (C484Y)
Ref Sequence ENSEMBL: ENSMUSP00000108553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112930] [ENSMUST00000112931]
AlphaFold Q63ZW6
Predicted Effect unknown
Transcript: ENSMUST00000112930
AA Change: C484Y
SMART Domains Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274
AA Change: C484Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 29 45 N/A INTRINSIC
low complexity region 51 73 N/A INTRINSIC
low complexity region 75 111 N/A INTRINSIC
internal_repeat_7 113 132 6.43e-8 PROSPERO
low complexity region 134 159 N/A INTRINSIC
Pfam:Collagen 165 223 1.1e-9 PFAM
Pfam:Collagen 283 345 1.1e-10 PFAM
Pfam:Collagen 390 446 2.8e-8 PFAM
low complexity region 454 463 N/A INTRINSIC
Pfam:Collagen 487 550 1.2e-11 PFAM
low complexity region 561 595 N/A INTRINSIC
Pfam:Collagen 599 658 3.2e-9 PFAM
Pfam:Collagen 659 706 1.8e-8 PFAM
Pfam:Collagen 706 763 2.1e-8 PFAM
Pfam:Collagen 753 818 5.2e-10 PFAM
Pfam:Collagen 793 855 2.4e-8 PFAM
Pfam:Collagen 854 912 7.2e-11 PFAM
Pfam:Collagen 896 958 1.2e-9 PFAM
Pfam:Collagen 960 1020 8.4e-12 PFAM
Pfam:Collagen 1014 1073 1.5e-11 PFAM
Pfam:Collagen 1074 1133 1.7e-12 PFAM
Pfam:Collagen 1128 1190 1.1e-9 PFAM
Pfam:Collagen 1189 1248 7.3e-10 PFAM
Pfam:Collagen 1321 1377 1.3e-10 PFAM
Pfam:Collagen 1400 1465 3.1e-9 PFAM
C4 1467 1576 7.2e-67 SMART
C4 1577 1690 7.41e-78 SMART
Predicted Effect unknown
Transcript: ENSMUST00000112931
AA Change: C484Y
SMART Domains Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274
AA Change: C484Y

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
low complexity region 29 45 N/A INTRINSIC
low complexity region 51 73 N/A INTRINSIC
low complexity region 75 111 N/A INTRINSIC
internal_repeat_7 113 132 6.43e-8 PROSPERO
low complexity region 134 159 N/A INTRINSIC
Pfam:Collagen 165 223 1.1e-9 PFAM
Pfam:Collagen 283 345 1.1e-10 PFAM
Pfam:Collagen 390 446 2.9e-8 PFAM
low complexity region 454 463 N/A INTRINSIC
Pfam:Collagen 487 550 1.2e-11 PFAM
Pfam:Collagen 552 606 1.9e-7 PFAM
Pfam:Collagen 599 658 3.3e-9 PFAM
Pfam:Collagen 659 706 1.8e-8 PFAM
Pfam:Collagen 706 763 2.2e-8 PFAM
Pfam:Collagen 753 818 5.4e-10 PFAM
Pfam:Collagen 793 855 2.5e-8 PFAM
Pfam:Collagen 854 912 7.5e-11 PFAM
Pfam:Collagen 896 958 1.3e-9 PFAM
Pfam:Collagen 960 1020 8.8e-12 PFAM
Pfam:Collagen 1014 1073 1.6e-11 PFAM
Pfam:Collagen 1074 1133 1.8e-12 PFAM
Pfam:Collagen 1128 1190 1.1e-9 PFAM
Pfam:Collagen 1189 1248 7.6e-10 PFAM
Pfam:Collagen 1321 1377 1.4e-10 PFAM
Pfam:Collagen 1400 1465 3.2e-9 PFAM
C4 1467 1576 7.2e-67 SMART
C4 1577 1690 7.41e-78 SMART
Coding Region Coverage
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. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary nephritis. 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. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Aug 2010]
PHENOTYPE: Heterozygous or hemizygous mutation of this gene results in premature death, proteinuria, elevated blood urea nitrogen, and kidney glomerular and tubular malformations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,415,818 (GRCm39) Y637F possibly damaging Het
Abcc4 A G 14: 118,753,912 (GRCm39) I1025T probably damaging Het
Adam22 C A 5: 8,217,375 (GRCm39) R140L probably damaging Het
Ahdc1 C A 4: 132,790,003 (GRCm39) L415I possibly damaging Het
Ahdc1 T A 4: 132,790,004 (GRCm39) L415H probably damaging Het
Bivm C A 1: 44,176,159 (GRCm39) S305* probably null Het
Clca4b C T 3: 144,617,800 (GRCm39) D768N probably benign Het
Cobl T A 11: 12,319,602 (GRCm39) N31Y probably damaging Het
Ctnnd1 T C 2: 84,450,253 (GRCm39) probably benign Het
Dnah5 A G 15: 28,383,771 (GRCm39) T2998A probably benign Het
Dnah9 T A 11: 65,772,445 (GRCm39) probably benign Het
F2 T C 2: 91,456,087 (GRCm39) D558G probably damaging Het
Gle1 T A 2: 29,839,240 (GRCm39) W511R probably damaging Het
Gm11564 C T 11: 99,705,953 (GRCm39) S159N unknown Het
Htr6 A G 4: 138,801,745 (GRCm39) C110R probably damaging Het
Ikbke T A 1: 131,197,934 (GRCm39) S391C probably damaging Het
Itgae T C 11: 73,005,693 (GRCm39) F286L probably damaging Het
Kcnb2 A T 1: 15,780,730 (GRCm39) H534L probably damaging Het
Map1b T C 13: 99,569,544 (GRCm39) Y1059C unknown Het
Mul1 A G 4: 138,165,660 (GRCm39) T106A probably damaging Het
Nf2 T A 11: 4,741,209 (GRCm39) E249V probably damaging Het
Nlrp1a T C 11: 70,996,912 (GRCm39) S965G possibly damaging Het
Nrn1 C A 13: 36,914,080 (GRCm39) probably null Het
Optc T C 1: 133,829,799 (GRCm39) T204A probably damaging Het
Or51f1d T C 7: 102,701,345 (GRCm39) V280A probably benign Het
Or8k37 T C 2: 86,469,992 (GRCm39) N20S probably benign Het
Pcnx2 C T 8: 126,589,912 (GRCm39) R787Q probably damaging Het
Pim1 G A 17: 29,710,909 (GRCm39) E171K probably damaging Het
Pnpt1 T C 11: 29,088,162 (GRCm39) V191A probably damaging Het
Rbbp8 G A 18: 11,871,671 (GRCm39) R796Q probably benign Het
Serpinb9e A G 13: 33,435,633 (GRCm39) D22G possibly damaging Het
Sit1 C T 4: 43,482,831 (GRCm39) M109I probably benign Het
Slc17a8 A G 10: 89,412,446 (GRCm39) V329A probably benign Het
Smg1 T A 7: 117,748,156 (GRCm39) probably benign Het
Snx7 T A 3: 117,623,320 (GRCm39) probably benign Het
Stat2 A T 10: 128,112,480 (GRCm39) E40V probably damaging Het
Vegfa C T 17: 46,335,421 (GRCm39) S291N probably benign Het
Vmn1r61 G T 7: 5,614,288 (GRCm39) L9I probably benign Het
Wbp4 T C 14: 79,708,129 (GRCm39) K163E probably damaging Het
Other mutations in Col4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Col4a5 APN X 140,422,234 (GRCm39) missense unknown
IGL02244:Col4a5 APN X 140,382,669 (GRCm39) splice site probably benign
IGL02562:Col4a5 APN X 140,439,671 (GRCm39) splice site probably benign
IGL02618:Col4a5 APN X 140,466,678 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18