Incidental Mutation 'IGL02244:Col4a5'
ID286125
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 #IGL02244
Quality Score
Status
ChromosomeX
Chromosomal Location141475385-141689234 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 141599673 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112930] [ENSMUST00000112931]
Predicted Effect probably benign
Transcript: ENSMUST00000112930
SMART Domains Protein: ENSMUSP00000108552
Gene: ENSMUSG00000031274

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 probably benign
Transcript: ENSMUST00000112931
SMART Domains Protein: ENSMUSP00000108553
Gene: ENSMUSG00000031274

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Col4a5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01717:Col4a5 APN X 141639238 missense unknown
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 On2015-04-16