Incidental Mutation 'R0829:Xkr4'
ID 78414
Institutional Source Beutler Lab
Gene Symbol Xkr4
Ensembl Gene ENSMUSG00000051951
Gene Name X-linked Kx blood group related 4
Synonyms
MMRRC Submission 039009-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0829 (G1)
Quality Score 158
Status Not validated
Chromosome 1
Chromosomal Location 3276124-3741721 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3741469 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 35 (A35T)
Ref Sequence ENSEMBL: ENSMUSP00000070648 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070533]
AlphaFold Q5GH67
Predicted Effect possibly damaging
Transcript: ENSMUST00000070533
AA Change: A35T

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000070648
Gene: ENSMUSG00000051951
AA Change: A35T

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: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 95% (37/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprh C A 16: 38,266,150 (GRCm39) A331S probably benign Het
Atp4b T G 8: 13,440,098 (GRCm39) T83P probably damaging Het
Ccdc177 T C 12: 80,806,253 (GRCm39) E7G probably damaging Het
Cercam G T 2: 29,761,079 (GRCm39) R126L probably damaging Het
Cpb1 C T 3: 20,306,107 (GRCm39) probably benign Het
Dnah7a T C 1: 53,543,238 (GRCm39) M2311V probably benign Het
Dnah9 C A 11: 65,896,002 (GRCm39) V2458L probably benign Het
Dnajb6 T C 5: 29,990,020 (GRCm39) probably benign Het
Dst A G 1: 34,202,301 (GRCm39) T210A probably damaging Het
Gfpt1 T C 6: 87,030,847 (GRCm39) probably benign Het
Grin1 C T 2: 25,188,460 (GRCm39) D429N probably benign Het
Iqck T C 7: 118,499,111 (GRCm39) probably null Het
Itgb5 A G 16: 33,764,571 (GRCm39) I359V probably benign Het
Lemd3 T C 10: 120,814,988 (GRCm39) T82A probably benign Het
Lrrc74b A G 16: 17,376,254 (GRCm39) probably benign Het
Mitf A T 6: 97,980,869 (GRCm39) I246F possibly damaging Het
Msgn1 C T 12: 11,258,525 (GRCm39) R142Q probably damaging Het
Myh8 C A 11: 67,174,326 (GRCm39) probably benign Het
Nacad C A 11: 6,551,158 (GRCm39) V678L probably benign Het
Nomo1 A G 7: 45,725,596 (GRCm39) probably benign Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Or1s2 T A 19: 13,758,556 (GRCm39) D191E probably damaging Het
Or4c100 A T 2: 88,356,572 (GRCm39) Y215F probably damaging Het
Or4l15 C A 14: 50,198,503 (GRCm39) V9L probably benign Het
Or6d13 A G 6: 116,518,226 (GRCm39) T271A probably benign Het
Pcdh15 T A 10: 74,338,598 (GRCm39) V1068E probably damaging Het
Plat A G 8: 23,262,273 (GRCm39) Y99C probably damaging Het
Potefam1 G A 2: 111,028,450 (GRCm39) T42I possibly damaging Het
Rasl10b G A 11: 83,308,665 (GRCm39) probably null Het
Rbm25 T C 12: 83,707,150 (GRCm39) probably benign Het
Scaf11 T C 15: 96,316,570 (GRCm39) D998G probably damaging Het
Serpinb6a A G 13: 34,119,684 (GRCm39) probably benign Het
Spef2 T C 15: 9,687,899 (GRCm39) I507M probably benign Het
Srebf2 T A 15: 82,061,790 (GRCm39) probably null Het
Stimate C T 14: 30,584,842 (GRCm39) R56C probably damaging Het
Tert T C 13: 73,792,504 (GRCm39) C924R probably damaging Het
Usp19 T C 9: 108,371,000 (GRCm39) S221P probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L 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
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
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'- AGGCAGTCCCACAGCGAGTAAC -3'
(R):5'- AGGTCATCCTCTCCCTCGGAGTCAG -3'

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