Incidental Mutation 'R4173:Xkr4'
ID 318198
Institutional Source Beutler Lab
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene Name X-linked Kx blood group related 4
Synonyms
MMRRC Submission 041012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4173 (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 G at 3286711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 493 (F493S)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect probably damaging
Transcript: ENSMUST00000070533
AA Change: F493S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: F493S

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akip1 C T 7: 109,306,716 (GRCm39) Q138* probably null Het
Cdk1 T C 10: 69,180,991 (GRCm39) D73G probably benign Het
Cspg4 A G 9: 56,795,214 (GRCm39) E983G probably damaging Het
Gnmt A G 17: 47,037,047 (GRCm39) V217A probably damaging Het
Myo5c A G 9: 75,153,540 (GRCm39) E142G probably damaging Het
Nr1h5 C T 3: 102,859,546 (GRCm39) R171H probably damaging Het
Opcml C T 9: 28,814,654 (GRCm39) T302I probably benign Het
Or4c58 T G 2: 89,675,122 (GRCm39) D65A probably damaging Het
Pcdha11 T C 18: 37,145,676 (GRCm39) V589A probably damaging Het
Pigl T A 11: 62,349,337 (GRCm39) F18I probably benign Het
Pip4k2b T C 11: 97,613,201 (GRCm39) K265R probably benign Het
Rora C A 9: 68,561,192 (GRCm39) T35K probably benign Het
Serpinb9e A G 13: 33,439,141 (GRCm39) N189S probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc25a45 C A 19: 5,930,611 (GRCm39) Y99* probably null Het
Smgc T C 15: 91,744,759 (GRCm39) S655P possibly damaging Het
Thbs2 A C 17: 14,901,893 (GRCm39) probably null Het
Timd2 T C 11: 46,561,787 (GRCm39) T286A probably benign Het
Trav6d-3 A G 14: 52,962,806 (GRCm39) I14M probably benign Het
Trim28 A G 7: 12,763,805 (GRCm39) D622G probably benign Het
Txnl4b G A 8: 110,295,706 (GRCm39) V37I probably benign Het
Ubr1 C T 2: 120,777,103 (GRCm39) probably null Het
Vps13c A G 9: 67,843,595 (GRCm39) N1959D probably benign Het
Xrn2 T C 2: 146,889,612 (GRCm39) V665A 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
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'- CAACACTGCGGTTGTTGGAG -3'
(R):5'- TGGATTGTCCACTGTGAGACAG -3'

Sequencing Primer
(F):5'- GAGATGGACCGTAGTGTGC -3'
(R):5'- ACATGGTGGTGGGCATCATCTAC -3'
Posted On 2015-06-10