Incidental Mutation 'IGL03231:Xkrx'
ID 413903
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 # IGL03231
Quality Score
Status
Chromosome X
Chromosomal Location 133049792-133062825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 133051391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 420 (L420P)
Ref Sequence ENSEMBL: ENSMUSP00000033611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033611] [ENSMUST00000162833]
AlphaFold Q5GH68
Predicted Effect probably damaging
Transcript: ENSMUST00000033611
AA Change: L420P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000033611
Gene: ENSMUSG00000031258
AA Change: L420P

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A C 11: 110,046,094 (GRCm39) F277V probably damaging Het
Arel1 T A 12: 84,981,084 (GRCm39) T308S probably benign Het
Asic1 T A 15: 99,596,983 (GRCm39) H548Q probably benign Het
B3galt1 T C 2: 67,948,947 (GRCm39) Y221H probably damaging Het
Bltp2 A G 11: 78,159,528 (GRCm39) T526A probably benign Het
Brs3 G T X: 56,090,804 (GRCm39) C221F probably benign Het
Capn7 G A 14: 31,077,247 (GRCm39) G322R probably damaging Het
Ccdc138 T C 10: 58,409,528 (GRCm39) L619P probably damaging Het
Cdh22 C T 2: 164,958,126 (GRCm39) V614I probably benign Het
Dnah5 C T 15: 28,311,294 (GRCm39) R1758W probably damaging Het
Dr1 T C 5: 108,423,474 (GRCm39) V87A probably benign Het
F830045P16Rik A G 2: 129,302,393 (GRCm39) S400P probably damaging Het
Fcgbpl1 A G 7: 27,853,147 (GRCm39) E1478G possibly damaging Het
Fyb2 T A 4: 104,843,460 (GRCm39) Y353* probably null Het
Gm28043 A G 17: 29,854,916 (GRCm39) D457G probably damaging Het
Gsap T C 5: 21,434,164 (GRCm39) V260A probably damaging Het
Kcnt2 A T 1: 140,461,740 (GRCm39) probably benign Het
Magee2 A T X: 103,899,944 (GRCm39) L236M probably damaging Het
Map4k3 A T 17: 80,905,104 (GRCm39) V729E probably damaging Het
Myh13 A G 11: 67,242,817 (GRCm39) E910G possibly damaging Het
Nbeal1 G T 1: 60,275,618 (GRCm39) A651S probably benign Het
Nhsl3 C T 4: 129,117,474 (GRCm39) V385I possibly damaging Het
Nuak2 A T 1: 132,255,915 (GRCm39) D188V probably damaging Het
Nup210l A G 3: 90,096,852 (GRCm39) T1354A probably damaging Het
Or10q1 A T 19: 13,726,749 (GRCm39) Q93L probably benign Het
Pof1b C T X: 111,554,987 (GRCm39) S506N possibly damaging Het
Prrt3 A G 6: 113,474,485 (GRCm39) S246P possibly damaging Het
Rps6ka6 T A X: 110,360,018 (GRCm39) T43S probably benign Het
Slc19a2 G T 1: 164,088,449 (GRCm39) W98L probably damaging Het
Snap29 C T 16: 17,244,964 (GRCm39) S195L probably benign Het
Stt3b C T 9: 115,073,062 (GRCm39) G815S unknown Het
Tm9sf2 T G 14: 122,378,664 (GRCm39) I256R possibly damaging Het
Tpbpb A T 13: 61,049,996 (GRCm39) N44K probably damaging Het
Trim13 A G 14: 61,842,994 (GRCm39) E337G probably benign Het
Trmt6 A T 2: 132,657,756 (GRCm39) D33E probably benign Het
Trpm6 T A 19: 18,796,545 (GRCm39) S800R probably benign Het
V1rd19 A G 7: 23,703,328 (GRCm39) I265V probably benign Het
Zfp618 T C 4: 63,012,716 (GRCm39) Y167H probably damaging Het
Other mutations in Xkrx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02070:Xkrx APN X 133,051,311 (GRCm39) missense probably benign
IGL02380:Xkrx APN X 133,051,388 (GRCm39) missense probably benign
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 2016-08-02