Incidental Mutation 'R0830:Xkr4'
ID 77468
Institutional Source Beutler Lab
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene Name X-linked Kx blood group related 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0830 (G1)
Quality Score 205
Status Not validated
Chromosome 1
Chromosomal Location 3276124-3741721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3740968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 202 (G202S)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect possibly damaging
Transcript: ENSMUST00000070533
AA Change: G202S

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: G202S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.0%
  • 20x: 90.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik C T 1: 183,765,624 (GRCm39) R145H probably damaging Het
Adam26a C T 8: 44,021,439 (GRCm39) V684I probably benign Het
Alk T C 17: 72,910,195 (GRCm39) I170M probably benign Het
Apc2 T C 10: 80,151,239 (GRCm39) Y2069H probably damaging Het
Aspm A G 1: 139,401,992 (GRCm39) T1219A probably damaging Het
Bnip1 T C 17: 27,008,679 (GRCm39) S94P probably benign Het
Cftr A G 6: 18,270,224 (GRCm39) I805V probably benign Het
Col25a1 T A 3: 130,378,375 (GRCm39) D609E probably damaging Het
Cplane1 T A 15: 8,276,669 (GRCm39) V2771E unknown Het
Cyp2g1 A G 7: 26,514,216 (GRCm39) K274R probably benign Het
D5Ertd579e G A 5: 36,771,101 (GRCm39) T1098I probably damaging Het
Ddx39a T A 8: 84,446,452 (GRCm39) C74S possibly damaging Het
E2f3 C T 13: 30,169,543 (GRCm39) A37T probably benign Het
Emilin2 A G 17: 71,580,815 (GRCm39) M637T probably benign Het
Exosc7 T C 9: 122,948,358 (GRCm39) L93P probably benign Het
F2 T C 2: 91,460,545 (GRCm39) E316G probably benign Het
Fat4 A C 3: 39,053,258 (GRCm39) Q4084P probably benign Het
Flywch1 T C 17: 23,981,344 (GRCm39) K160E probably benign Het
Foxi2 A G 7: 135,013,459 (GRCm39) T230A probably benign Het
Fthl17a A G X: 84,313,679 (GRCm39) N154S possibly damaging Het
Hykk G A 9: 54,844,601 (GRCm39) R222Q probably damaging Het
Il18rap T A 1: 40,582,150 (GRCm39) V357E probably damaging Het
Ing4 A G 6: 125,020,923 (GRCm39) E15G probably damaging Het
Irak1 T C X: 73,060,189 (GRCm39) D679G probably damaging Het
Itga1 T C 13: 115,143,568 (GRCm39) E321G probably benign Het
Nudt1 T A 5: 140,321,076 (GRCm39) probably null Het
Nup58 A G 14: 60,480,931 (GRCm39) F138S probably damaging Het
Or10al6 A T 17: 38,082,804 (GRCm39) M87L probably damaging Het
Or2a5 G T 6: 42,873,532 (GRCm39) W49L probably benign Het
Pllp T C 8: 95,406,103 (GRCm39) Y60C probably damaging Het
Pnpla7 T C 2: 24,887,267 (GRCm39) V37A probably damaging Het
Poglut3 T G 9: 53,302,011 (GRCm39) L32R probably damaging Het
Psme4 A G 11: 30,757,797 (GRCm39) H310R possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Sash1 C T 10: 8,605,673 (GRCm39) V906M probably benign Het
Scn1a A T 2: 66,130,128 (GRCm39) I1212K probably damaging Het
Stbd1 A T 5: 92,752,989 (GRCm39) S160C probably benign Het
Tex29 T C 8: 11,904,157 (GRCm39) V99A probably benign Het
Tg A T 15: 66,596,993 (GRCm39) N79I probably damaging Het
Tie1 T C 4: 118,339,860 (GRCm39) D389G probably damaging Het
Vmn1r178 A G 7: 23,593,452 (GRCm39) T167A possibly 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
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
R5901:Xkr4 UTSW 1 3,286,901 (GRCm39) missense probably damaging 0.99
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'- CCAAGCTGCAAGATGTGGATGAGTG -3'
(R):5'- AATTCGGGCTCTGTGCAAGGAC -3'

Sequencing Primer
(F):5'- CAAGATGTGGATGAGTGACTGC -3'
(R):5'- GAGCCGAGGACAcggag -3'
Posted On 2013-10-16