Incidental Mutation 'R5901:Xkr4'
ID 456304
Institutional Source Beutler Lab
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene Name X-linked Kx blood group related 4
Synonyms
MMRRC Submission 043239-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5901 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 3276124-3741721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3286901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 430 (F430I)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect probably damaging
Transcript: ENSMUST00000070533
AA Change: F430I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: F430I

DomainStartEndE-ValueType
low complexity region 49 99 N/A INTRINSIC
Pfam:XK-related 111 513 2.6e-128 PFAM
low complexity region 573 586 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159265
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162897
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik T A 11: 99,728,163 (GRCm39) S227C unknown Het
Acyp2 C T 11: 30,456,354 (GRCm39) E98K possibly damaging Het
Adamts15 C T 9: 30,813,786 (GRCm39) R793H probably damaging Het
Ankra2 A G 13: 98,407,644 (GRCm39) E38G probably damaging Het
Aqp8 G A 7: 123,061,807 (GRCm39) C8Y probably damaging Het
Atg9b A G 5: 24,597,017 (GRCm39) probably benign Het
Atp6v1b1 A G 6: 83,735,339 (GRCm39) E469G possibly damaging Het
B4gat1 T A 19: 5,089,241 (GRCm39) Y79* probably null Het
BB019430 T A 10: 58,540,014 (GRCm39) noncoding transcript Het
Calhm3 T C 19: 47,146,052 (GRCm39) Y51C probably damaging Het
Ccr2 C T 9: 123,906,239 (GRCm39) T173I possibly damaging Het
Cfap43 T C 19: 47,885,538 (GRCm39) D359G probably damaging Het
Dop1b A G 16: 93,566,639 (GRCm39) E1022G possibly damaging Het
Drd2 T A 9: 49,318,259 (GRCm39) C400* probably null Het
Efcab7 T A 4: 99,766,941 (GRCm39) H495Q probably damaging Het
Faim T C 9: 98,874,195 (GRCm39) V29A probably benign Het
Fancd2 T C 6: 113,526,326 (GRCm39) S350P probably damaging Het
Fbxw16 T C 9: 109,270,285 (GRCm39) E152G probably benign Het
Kif17 T C 4: 138,025,643 (GRCm39) probably null Het
Kif24 A T 4: 41,428,604 (GRCm39) S119T probably damaging Het
Ly6k A T 15: 74,670,429 (GRCm39) S38T probably benign Het
Mapk10 A G 5: 103,061,158 (GRCm39) S430P probably damaging Het
Megf10 G A 18: 57,410,180 (GRCm39) A654T probably benign Het
Mlph T C 1: 90,867,536 (GRCm39) L450P probably damaging Het
Otof T C 5: 30,532,323 (GRCm39) D1603G probably damaging Het
Pdcd11 T C 19: 47,116,771 (GRCm39) S1580P possibly damaging Het
Rad54b G A 4: 11,595,919 (GRCm39) R232H possibly damaging Het
Sar1b C T 11: 51,670,576 (GRCm39) T40I possibly damaging Het
Scyl2 C T 10: 89,496,124 (GRCm39) S242N probably benign Het
Sema4b A G 7: 79,874,715 (GRCm39) N702D possibly damaging Het
Slc16a11 A G 11: 70,107,172 (GRCm39) I394V probably benign Het
Stard9 A C 2: 120,531,851 (GRCm39) T2703P probably damaging Het
Stat5b A T 11: 100,695,733 (GRCm39) L83Q possibly damaging Het
Tas2r119 T A 15: 32,177,932 (GRCm39) V166D possibly damaging Het
Tmem117 T A 15: 94,612,839 (GRCm39) I125N probably benign Het
Tmem39a T C 16: 38,393,568 (GRCm39) I89T probably benign Het
Ubr4 T A 4: 139,178,565 (GRCm39) H3272Q probably damaging Het
Vmn1r7 T C 6: 57,001,591 (GRCm39) E223G probably damaging Het
Vmn2r78 T C 7: 86,603,796 (GRCm39) V658A probably damaging Het
Xirp2 A T 2: 67,343,410 (GRCm39) T1884S possibly damaging Het
Yae1d1 A G 13: 18,164,200 (GRCm39) M1T probably null Het
Zfand4 T C 6: 116,265,084 (GRCm39) V183A probably damaging Het
Other mutations in Xkr4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03398:Xkr4 APN 1 3,286,798 (GRCm39) missense probably damaging 1.00
R0200:Xkr4 UTSW 1 3,740,886 (GRCm39) missense probably benign 0.00
R0829:Xkr4 UTSW 1 3,741,469 (GRCm39) missense possibly damaging 0.59
R0830:Xkr4 UTSW 1 3,740,968 (GRCm39) missense possibly damaging 0.48
R0959:Xkr4 UTSW 1 3,286,897 (GRCm39) missense probably damaging 1.00
R1242:Xkr4 UTSW 1 3,286,360 (GRCm39) missense probably damaging 1.00
R1257:Xkr4 UTSW 1 3,287,036 (GRCm39) missense probably benign 0.29
R2002:Xkr4 UTSW 1 3,741,318 (GRCm39) missense probably benign
R3896:Xkr4 UTSW 1 3,286,414 (GRCm39) missense probably damaging 0.99
R4006:Xkr4 UTSW 1 3,491,998 (GRCm39) missense probably benign 0.01
R4173:Xkr4 UTSW 1 3,286,711 (GRCm39) missense probably damaging 1.00
R4770:Xkr4 UTSW 1 3,286,714 (GRCm39) missense probably damaging 1.00
R4868:Xkr4 UTSW 1 3,287,074 (GRCm39) missense probably damaging 1.00
R5103:Xkr4 UTSW 1 3,740,911 (GRCm39) missense probably benign
R5548:Xkr4 UTSW 1 3,287,153 (GRCm39) missense probably damaging 1.00
R5602:Xkr4 UTSW 1 3,286,751 (GRCm39) missense probably benign 0.18
R5608:Xkr4 UTSW 1 3,741,603 (GRCm39) start gained probably benign
R5668:Xkr4 UTSW 1 3,741,258 (GRCm39) missense probably damaging 1.00
R6296:Xkr4 UTSW 1 3,286,793 (GRCm39) missense probably benign 0.01
R6302:Xkr4 UTSW 1 3,286,961 (GRCm39) missense probably damaging 0.99
R6326:Xkr4 UTSW 1 3,741,261 (GRCm39) missense possibly damaging 0.75
R6341:Xkr4 UTSW 1 3,741,001 (GRCm39) missense probably benign
R6911:Xkr4 UTSW 1 3,741,544 (GRCm39) missense possibly damaging 0.91
R7086:Xkr4 UTSW 1 3,287,185 (GRCm39) missense probably damaging 1.00
R7249:Xkr4 UTSW 1 3,287,033 (GRCm39) missense probably damaging 1.00
R7571:Xkr4 UTSW 1 3,740,911 (GRCm39) missense probably benign 0.00
R7881:Xkr4 UTSW 1 3,286,487 (GRCm39) missense probably damaging 1.00
R7952:Xkr4 UTSW 1 3,740,842 (GRCm39) missense possibly damaging 0.94
R8332:Xkr4 UTSW 1 3,492,122 (GRCm39) missense probably damaging 1.00
R9076:Xkr4 UTSW 1 3,286,358 (GRCm39) nonsense probably null
R9134:Xkr4 UTSW 1 3,740,860 (GRCm39) missense probably benign
R9618:Xkr4 UTSW 1 3,741,201 (GRCm39) missense probably damaging 1.00
R9663:Xkr4 UTSW 1 3,286,519 (GRCm39) missense probably benign 0.01
Z1176:Xkr4 UTSW 1 3,741,205 (GRCm39) missense probably damaging 1.00
Z1176:Xkr4 UTSW 1 3,741,204 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGGATGGCAAATGCATCTGC -3'
(R):5'- TCCTACCAGAAGGCTCTTCG -3'

Sequencing Primer
(F):5'- CATCTGCAATCTGGGGAGC -3'
(R):5'- AGCTACATGGCTGTCATCATTCAG -3'
Posted On 2017-02-15