Incidental Mutation 'IGL02380:Xkrx'
ID 291346
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkrx
Ensembl Gene ENSMUSG00000031258
Gene Name X-linked Kx blood group related, X-linked
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02380
Quality Score
Status
Chromosome X
Chromosomal Location 133049792-133062825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 133051388 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 421 (H421L)
Ref Sequence ENSEMBL: ENSMUSP00000033611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033611] [ENSMUST00000162833]
AlphaFold Q5GH68
Predicted Effect probably benign
Transcript: ENSMUST00000033611
AA Change: H421L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033611
Gene: ENSMUSG00000031258
AA Change: H421L

DomainStartEndE-ValueType
Pfam:XK-related 35 408 4.4e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148722
Predicted Effect probably benign
Transcript: ENSMUST00000162833
SMART Domains Protein: ENSMUSP00000123841
Gene: ENSMUSG00000031257

DomainStartEndE-ValueType
transmembrane domain 37 59 N/A INTRINSIC
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 a protein that is related to a component of the XK/Kell complex of the Kell blood group system. The encoded protein includes several transmembrane domains, is known to be exposed to the cell surface, and may function as a membrane transporter. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Hr A G 14: 70,795,201 (GRCm39) R278G probably damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Ighv1-4 G A 12: 114,450,753 (GRCm39) probably benign Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Klf5 A T 14: 99,538,894 (GRCm39) R102S possibly damaging Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Nt5c T C 11: 115,382,127 (GRCm39) D84G possibly damaging Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slco3a1 G A 7: 74,204,238 (GRCm39) S34F probably damaging Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Other mutations in Xkrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Xkrx APN X 133,051,311 (GRCm39) missense probably benign
IGL03231:Xkrx APN X 133,051,391 (GRCm39) missense probably damaging 1.00
R0479:Xkrx UTSW X 133,051,715 (GRCm39) missense probably damaging 1.00
R4493:Xkrx UTSW X 133,051,745 (GRCm39) missense possibly damaging 0.93
R4495:Xkrx UTSW X 133,051,745 (GRCm39) missense possibly damaging 0.93
Posted On 2015-04-16