Incidental Mutation 'R4495:Xkrx'
ID 330955
Institutional Source Beutler Lab
Gene Symbol Xkrx
Ensembl Gene ENSMUSG00000031258
Gene Name X-linked Kx blood group related, X-linked
Synonyms
MMRRC Submission 041583-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4495 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 133049792-133062825 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 133051745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 302 (N302S)
Ref Sequence ENSEMBL: ENSMUSP00000033611 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033611] [ENSMUST00000162833]
AlphaFold Q5GH68
Predicted Effect possibly damaging
Transcript: ENSMUST00000033611
AA Change: N302S

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000033611
Gene: ENSMUSG00000031258
AA Change: N302S

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
Meta Mutation Damage Score 0.1329 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Calcr A T 6: 3,708,484 (GRCm39) probably null Het
Cdh4 T C 2: 179,422,182 (GRCm39) V102A probably damaging Het
Cmya5 T C 13: 93,230,573 (GRCm39) E1505G probably benign Het
Cyp2b9 T A 7: 25,900,180 (GRCm39) D329E probably benign Het
Ddx47 T C 6: 134,998,429 (GRCm39) F375S possibly damaging Het
Dnah7b T G 1: 46,124,792 (GRCm39) S154A probably benign Het
Fry G T 5: 150,233,928 (GRCm39) E133D probably damaging Het
Hydin T C 8: 111,322,034 (GRCm39) L4562P probably damaging Het
Ifnlr1 A T 4: 135,433,079 (GRCm39) E505V probably damaging Het
Igfn1 T C 1: 135,897,416 (GRCm39) E1050G possibly damaging Het
Kidins220 T A 12: 25,088,301 (GRCm39) probably null Het
Klra10 T G 6: 130,256,311 (GRCm39) E114D probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mrgpra3 T C 7: 47,239,813 (GRCm39) I38V probably benign Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Nrxn2 A T 19: 6,581,429 (GRCm39) T412S probably benign Het
Or4k37 T A 2: 111,159,365 (GRCm39) N200K probably benign Het
Palm3 C T 8: 84,753,495 (GRCm39) R97C probably damaging Het
Pdcd11 T C 19: 47,099,445 (GRCm39) V848A probably benign Het
Prdx1 T C 4: 116,556,416 (GRCm39) V188A probably benign Het
Prep T C 10: 44,996,915 (GRCm39) F398L probably benign Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Rwdd2b T C 16: 87,231,450 (GRCm39) T235A probably benign Het
Scn1a T C 2: 66,111,146 (GRCm39) probably null Het
Sidt1 C T 16: 44,102,841 (GRCm39) V295M probably damaging Het
Sla T C 15: 66,673,361 (GRCm39) T10A probably benign Het
Slc22a20 A G 19: 6,034,952 (GRCm39) S170P probably benign Het
Syt6 C A 3: 103,494,876 (GRCm39) C280* probably null Het
Thbs2 A G 17: 14,891,675 (GRCm39) I954T probably damaging Het
Tmprss11b T A 5: 86,812,922 (GRCm39) K125* probably null Het
Ugt1a6a T A 1: 88,066,905 (GRCm39) L237H probably damaging Het
Vmn2r68 TCC TC 7: 84,870,758 (GRCm39) probably null Het
Wdr53 A G 16: 32,070,969 (GRCm39) T105A probably benign Het
Zfp704 T A 3: 9,536,137 (GRCm39) S128C probably benign Het
Zfp759 A G 13: 67,286,989 (GRCm39) probably null Het
Zfyve16 A T 13: 92,625,075 (GRCm39) D1494E probably benign 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
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
Predicted Primers PCR Primer
(F):5'- ATGATCACATTCTCTACCAGCC -3'
(R):5'- ACTACAAGATTAGACTGGGGCC -3'

Sequencing Primer
(F):5'- ATTCTCTACCAGCCTCACACTATAG -3'
(R):5'- TGTATCACCGTCTGGAGGAC -3'
Posted On 2015-07-21