Incidental Mutation 'R0959:Xkr4'
ID 81740
Institutional Source Beutler Lab
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene Name X-linked Kx blood group related 4
Synonyms
MMRRC Submission 039088-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0959 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 3276124-3741721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 3286897 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 431 (D431G)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect probably damaging
Transcript: ENSMUST00000070533
AA Change: D431G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: D431G

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: 99.6%
  • 3x: 98.7%
  • 10x: 95.8%
  • 20x: 89.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl11 T C 9: 107,808,434 (GRCm39) V919A probably damaging Het
Adam28 G A 14: 68,845,387 (GRCm39) P761L possibly damaging Het
Aoc1l3 T A 6: 48,965,566 (GRCm39) C525S possibly damaging Het
Aplf G A 6: 87,623,065 (GRCm39) P338L probably benign Het
Arl5b T A 2: 15,077,942 (GRCm39) I89N probably damaging Het
Asap2 T C 12: 21,297,320 (GRCm39) V596A probably damaging Het
Baz1b T G 5: 135,273,076 (GRCm39) F1400C probably damaging Het
Ccdc149 A T 5: 52,542,497 (GRCm39) L365Q probably damaging Het
Ccdc60 A G 5: 116,318,870 (GRCm39) S149P probably damaging Het
Ces1b A G 8: 93,794,775 (GRCm39) C275R probably damaging Het
Creb3 T C 4: 43,563,509 (GRCm39) L163P probably damaging Het
Dhx37 T G 5: 125,500,496 (GRCm39) N570T probably benign Het
Epc1 T C 18: 6,453,657 (GRCm39) N223D probably damaging Het
Gbp5 C T 3: 142,208,885 (GRCm39) H143Y possibly damaging Het
Gfod1 A T 13: 43,456,905 (GRCm39) D23E probably benign Het
Gm7361 A T 5: 26,467,051 (GRCm39) E223D possibly damaging Het
Izumo1 A G 7: 45,274,415 (GRCm39) K161E probably damaging Het
Kcnh2 C T 5: 24,527,670 (GRCm39) R894H probably damaging Het
Lrp1b T C 2: 41,158,366 (GRCm39) N1617S possibly damaging Het
Med13l A T 5: 118,892,350 (GRCm39) E1924D possibly damaging Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtg2 T G 2: 179,725,221 (GRCm39) S145A probably benign Het
Mug2 G A 6: 122,062,454 (GRCm39) S1442N probably benign Het
Myo1b A T 1: 51,836,246 (GRCm39) I315N probably damaging Het
Naip2 G A 13: 100,291,386 (GRCm39) T1184M probably benign Het
Naip2 T A 13: 100,291,419 (GRCm39) H1173L probably benign Het
Nsrp1 G A 11: 76,937,285 (GRCm39) R304* probably null Het
Or2a56 G T 6: 42,932,686 (GRCm39) V85L probably benign Het
Oxtr C T 6: 112,454,138 (GRCm39) R42Q probably benign Het
Parp4 T C 14: 56,885,576 (GRCm39) F1552L unknown Het
Pigw G A 11: 84,769,033 (GRCm39) H99Y probably benign Het
Ppp6r2 G A 15: 89,158,379 (GRCm39) M444I possibly damaging Het
Rchy1 A G 5: 92,105,476 (GRCm39) F82L probably damaging Het
Reln A C 5: 22,432,626 (GRCm39) F125V probably damaging Het
Riok1 G A 13: 38,241,149 (GRCm39) E435K probably damaging Het
Rnf213 A G 11: 119,343,407 (GRCm39) R3590G probably damaging Het
Scart2 A G 7: 139,874,704 (GRCm39) E394G probably damaging Het
Scrib G C 15: 75,923,310 (GRCm39) P1249A probably benign Het
Shc4 C T 2: 125,520,607 (GRCm39) probably null Het
Slc12a2 T A 18: 58,037,450 (GRCm39) I520N probably damaging Het
Slc26a5 A G 5: 22,021,959 (GRCm39) I484T probably benign Het
Slc39a11 G T 11: 113,354,899 (GRCm39) T110K probably benign Het
Snd1 T A 6: 28,884,970 (GRCm39) S774T probably benign Het
Spata31d1c C T 13: 65,184,129 (GRCm39) P557L probably damaging Het
Tada1 A G 1: 166,216,198 (GRCm39) D133G probably benign Het
Tg A T 15: 66,579,859 (GRCm39) T1555S probably damaging Het
Thra A G 11: 98,644,455 (GRCm39) E15G possibly damaging Het
Timd5 A T 11: 46,427,247 (GRCm39) R187* probably null Het
Ttn T A 2: 76,625,440 (GRCm39) I15128F probably damaging Het
Ube2r2 A G 4: 41,174,066 (GRCm39) Y68C probably damaging Het
Uncx A T 5: 139,532,442 (GRCm39) N169I probably damaging Het
Vmn2r100 A G 17: 19,743,786 (GRCm39) Y483C possibly damaging Het
Xylb C A 9: 119,209,091 (GRCm39) A311E possibly damaging Het
Zbtb39 C G 10: 127,578,175 (GRCm39) Q250E probably benign Het
Zbtb39 C A 10: 127,578,931 (GRCm39) H502N probably damaging Het
Zfp82 A G 7: 29,755,876 (GRCm39) L402P probably damaging Het
Zpbp2 G A 11: 98,448,451 (GRCm39) R256Q probably benign 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
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'- TGGCTGGATCATCACAAGCACAAC -3'
(R):5'- ATTTCTTCACCATCGCTGCCAGGG -3'

Sequencing Primer
(F):5'- CACAAGCACAACTTGGTGATTG -3'
(R):5'- TGCCAGGGTCATCACATTCG -3'
Posted On 2013-11-08