Incidental Mutation 'IGL01717:Col4a5'
ID104983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Col4a5
Ensembl Gene ENSMUSG00000031274
Gene Namecollagen, type IV, alpha 5
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01717
Quality Score
Status
ChromosomeX
Chromosomal Location141475385-141689234 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 141639238 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 1070 (V1070D)
Ref Sequence ENSEMBL: ENSMUSP00000108553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112930] [ENSMUST00000112931]
Predicted Effect unknown
Transcript: ENSMUST00000112930
AA Change: V1070D
SMART Domains Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274
AA Change: V1070D

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: V1070D
SMART Domains Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274
AA Change: V1070D

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
Predicted Effect unknown
Transcript: ENSMUST00000130732
AA Change: V184D
SMART Domains Protein: ENSMUSP00000116610
Gene: ENSMUSG00000031274
AA Change: V184D

DomainStartEndE-ValueType
Pfam:Collagen 1 73 4.7e-10 PFAM
Pfam:Collagen 75 135 1.1e-12 PFAM
Pfam:Collagen 130 188 1.6e-12 PFAM
Pfam:Collagen 189 248 2.2e-13 PFAM
Pfam:Collagen 243 305 1.6e-10 PFAM
Pfam:Collagen 304 363 1.1e-10 PFAM
Pfam:Collagen 362 423 4.7e-11 PFAM
Pfam:Collagen 409 483 6.3e-10 PFAM
Pfam:Collagen 516 574 4.2e-10 PFAM
C4 576 685 7.2e-67 SMART
C4 686 799 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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 37,034,736 S4112G probably benign Het
Aif1 A T 17: 35,171,555 M73K probably damaging Het
Alk T C 17: 72,603,382 I110V probably benign Het
Aoah T C 13: 20,999,977 S404P probably damaging Het
Bhlhe41 A G 6: 145,863,037 S350P possibly damaging Het
Capn12 A G 7: 28,889,105 D540G probably benign Het
Chd6 A G 2: 160,965,259 Y2012H possibly damaging Het
Col1a1 A G 11: 94,950,777 T1284A unknown Het
Col24a1 T C 3: 145,524,263 probably benign Het
Col6a5 T C 9: 105,940,273 T280A unknown Het
Dicer1 A T 12: 104,702,787 L1212* probably null Het
Gigyf1 T A 5: 137,525,691 V1041E probably damaging Het
Gm4978 C T 9: 69,450,873 probably benign Het
Gnai1 A G 5: 18,291,461 probably null Het
Golgb1 C T 16: 36,915,502 R1704* probably null Het
Incenp A G 19: 9,893,265 probably benign Het
Lrrc39 A T 3: 116,579,497 probably benign Het
Man2a2 T C 7: 80,367,365 K319E probably damaging Het
Neb T C 2: 52,189,867 D83G probably damaging Het
Osbpl6 T C 2: 76,588,594 I732T probably damaging Het
Pacs1 T A 19: 5,167,972 K130N probably damaging Het
Pappa2 A G 1: 158,857,132 probably null Het
Pole2 T C 12: 69,213,849 M186V probably damaging Het
Rwdd4a T C 8: 47,544,105 probably benign Het
Sel1l3 A G 5: 53,200,168 Y161H probably damaging Het
Sf3a2 C T 10: 80,804,692 Q446* probably null Het
Slc26a3 T C 12: 31,463,477 I466T probably benign Het
Slc29a4 A T 5: 142,718,746 I348F probably damaging Het
Tbl1xr1 A G 3: 22,193,171 probably benign Het
Tlr5 A T 1: 182,975,398 I756F probably damaging Het
Ttn T A 2: 76,730,402 L29218F probably damaging Het
Ttn A T 2: 76,730,404 L29218I probably damaging Het
Other mutations in Col4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02244:Col4a5 APN X 141599673 splice site probably benign
IGL02562:Col4a5 APN X 141656675 splice site probably benign
IGL02618:Col4a5 APN X 141683682 missense probably damaging 1.00
IGL02859:Col4a5 APN X 141609850 missense unknown
Posted On2014-01-21