Incidental Mutation 'R5548:Xkr4'
ID 434965
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 # R5548 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 3276124-3741721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3287153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 346 (A346T)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect probably damaging
Transcript: ENSMUST00000070533
AA Change: A346T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: A346T

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: 99.7%
  • 10x: 98.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik T C 10: 28,849,863 (GRCm39) D191G probably benign Het
Ankrd39 C T 1: 36,581,062 (GRCm39) G96R probably damaging Het
Cdh12 C T 15: 21,492,740 (GRCm39) T253I probably damaging Het
Cox4i2 C T 2: 152,599,011 (GRCm39) T56I possibly damaging Het
Cpsf1 A C 15: 76,481,527 (GRCm39) D1141E possibly damaging Het
Dennd5b T C 6: 148,920,847 (GRCm39) probably null Het
Dnah6 A T 6: 73,128,672 (GRCm39) D1194E probably damaging Het
Dst C A 1: 34,228,409 (GRCm39) H1676N probably benign Het
Eif4a3l1 T C 6: 136,306,568 (GRCm39) V343A probably damaging Het
Fitm1 A G 14: 55,813,154 (GRCm39) T6A probably benign Het
Galnt5 T A 2: 57,904,922 (GRCm39) V495E probably damaging Het
Gtf2h2 C A 13: 100,617,544 (GRCm39) R206L possibly damaging Het
Heatr5a A T 12: 52,005,734 (GRCm39) Y80* probably null Het
Il17ra A G 6: 120,455,434 (GRCm39) R348G probably benign Het
Mmp28 A T 11: 83,334,733 (GRCm39) Y340* probably null Het
Mrgprb8 A T 7: 48,038,778 (GRCm39) T150S probably benign Het
Ms4a10 A T 19: 10,945,484 (GRCm39) probably null Het
Muc5b A T 7: 141,417,679 (GRCm39) I3542F probably benign Het
Mybbp1a T C 11: 72,336,998 (GRCm39) L578P probably damaging Het
N4bp2l1 G A 5: 150,496,420 (GRCm39) R65* probably null Het
Nhsl3 GGTG GGTGTG 4: 129,117,773 (GRCm39) probably null Het
Nup188 T A 2: 30,216,505 (GRCm39) Y770N probably damaging Het
Or8b3b T C 9: 38,584,600 (GRCm39) I60V probably benign Het
Or8s5 T A 15: 98,238,253 (GRCm39) T206S probably benign Het
Pbrm1 T A 14: 30,827,381 (GRCm39) C1257S probably damaging Het
Pcdh8 T C 14: 80,004,942 (GRCm39) T1028A probably damaging Het
Pramel16 C T 4: 143,676,550 (GRCm39) E185K probably benign Het
Qars1 C T 9: 108,390,117 (GRCm39) P348S possibly damaging Het
Qrfpr T A 3: 36,276,075 (GRCm39) Q105L possibly damaging Het
Slc10a5 A T 3: 10,399,377 (GRCm39) Y428N probably benign Het
Slc16a5 A T 11: 115,360,630 (GRCm39) Y271F probably benign Het
Slc1a4 T A 11: 20,254,429 (GRCm39) Q479L possibly damaging Het
Slc38a1 C T 15: 96,488,355 (GRCm39) G143S probably damaging Het
Susd1 G A 4: 59,369,577 (GRCm39) T364M probably benign Het
Tmem132c T A 5: 127,628,587 (GRCm39) Y496* probably null Het
Tmem63b A G 17: 45,975,884 (GRCm39) I523T probably damaging Het
Tnrc6c T C 11: 117,651,669 (GRCm39) S1731P possibly damaging Het
Ttll3 T A 6: 113,370,078 (GRCm39) W139R probably damaging Het
Ubr4 C T 4: 139,187,401 (GRCm39) T3823M probably damaging Het
Vangl1 T A 3: 102,091,762 (GRCm39) D108V possibly damaging Het
Vmn1r120 T C 7: 20,787,482 (GRCm39) I76M probably benign Het
Wdr17 A G 8: 55,156,886 (GRCm39) Y17H probably damaging Het
Zfp267 C G 3: 36,219,640 (GRCm39) H554Q possibly damaging Het
Zfp600 T A 4: 146,133,019 (GRCm39) S562R 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
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
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'- TCATGATGCACCAATGGAGG -3'
(R):5'- TTCACAGAGGATGGCTACTGG -3'

Sequencing Primer
(F):5'- TGCACCAATGGAGGACAATAAATATC -3'
(R):5'- ACAGAGGATGGCTACTGGGATTTTC -3'
Posted On 2016-10-24