Incidental Mutation 'R0565:Xkr8'
ID 46112
Institutional Source Beutler Lab
Gene Symbol Xkr8
Ensembl Gene ENSMUSG00000037752
Gene Name X-linked Kx blood group related 8
Synonyms 4931440N07Rik, LOC381560
MMRRC Submission 038756-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R0565 (G1)
Quality Score 158
Status Validated
Chromosome 4
Chromosomal Location 132452208-132459857 bp(-) (GRCm39)
Type of Mutation splice site (2049 bp from exon)
DNA Base Change (assembly) A to C at 132458228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030709 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030709] [ENSMUST00000045550]
AlphaFold Q8C0T0
Predicted Effect probably null
Transcript: ENSMUST00000030709
SMART Domains Protein: ENSMUSP00000030709
Gene: ENSMUSG00000028885

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:Metallophos 21 281 1.9e-20 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000045550
AA Change: L150R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
AA Change: L150R

DomainStartEndE-ValueType
Pfam:XK-related 14 345 2.3e-87 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150104
Meta Mutation Damage Score 0.9040 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.8%
  • 10x: 96.8%
  • 20x: 93.6%
Validation Efficiency 100% (73/73)
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik A T 16: 4,682,200 (GRCm39) H1010L probably benign Het
A2ml1 C A 6: 128,545,706 (GRCm39) E474* probably null Het
Agtr1b T C 3: 20,369,838 (GRCm39) H256R probably damaging Het
Amacr C T 15: 10,982,032 (GRCm39) A46V possibly damaging Het
Atosb A T 4: 43,034,647 (GRCm39) probably benign Het
Cabp5 A T 7: 13,135,260 (GRCm39) M67L probably damaging Het
Caskin2 T C 11: 115,691,842 (GRCm39) E981G probably damaging Het
Ccdc88a A G 11: 29,411,042 (GRCm39) probably benign Het
Cd180 A G 13: 102,839,382 (GRCm39) probably benign Het
Cd200l1 T A 16: 45,264,536 (GRCm39) probably benign Het
Cemip G A 7: 83,613,318 (GRCm39) H627Y probably damaging Het
Cep131 G T 11: 119,964,588 (GRCm39) H289Q probably damaging Het
Cep350 G A 1: 155,836,941 (GRCm39) probably benign Het
Cfap52 A T 11: 67,840,425 (GRCm39) C169S probably benign Het
Cps1 A T 1: 67,205,608 (GRCm39) T544S possibly damaging Het
Cul7 T C 17: 46,962,929 (GRCm39) S187P probably damaging Het
Dhx40 C A 11: 86,661,993 (GRCm39) R688L probably damaging Het
E330034G19Rik C A 14: 24,356,985 (GRCm39) Q174K probably benign Het
Efna5 T C 17: 63,188,031 (GRCm39) Y32C probably damaging Het
Ethe1 A G 7: 24,307,314 (GRCm39) H176R probably benign Het
Exoc3 A G 13: 74,330,394 (GRCm39) probably null Het
Fam135b T A 15: 71,362,686 (GRCm39) N232Y possibly damaging Het
Fndc9 C T 11: 46,128,984 (GRCm39) L168F probably damaging Het
Fpr-rs3 G A 17: 20,844,283 (GRCm39) A286V probably damaging Het
Immt T A 6: 71,823,467 (GRCm39) probably benign Het
Ipo7 T C 7: 109,648,800 (GRCm39) probably benign Het
Ipo8 A T 6: 148,688,221 (GRCm39) L747H probably damaging Het
Ireb2 A T 9: 54,807,267 (GRCm39) N610Y probably damaging Het
Irs2 A G 8: 11,054,592 (GRCm39) V1280A probably damaging Het
Kcnj3 T A 2: 55,485,276 (GRCm39) M458K probably benign Het
Kl A G 5: 150,904,409 (GRCm39) K387R possibly damaging Het
L3mbtl2 C A 15: 81,568,487 (GRCm39) probably benign Het
Lamb1 A C 12: 31,348,914 (GRCm39) I649L probably benign Het
Lipm A C 19: 34,093,906 (GRCm39) L274F probably benign Het
Lrfn3 A G 7: 30,060,216 (GRCm39) V3A probably benign Het
Lrrc8c A C 5: 105,754,894 (GRCm39) D223A probably damaging Het
Ltn1 C A 16: 87,212,898 (GRCm39) K554N probably benign Het
Mertk T C 2: 128,613,403 (GRCm39) I473T probably benign Het
Mfsd12 C A 10: 81,197,243 (GRCm39) N245K probably benign Het
Mmp16 A G 4: 17,987,705 (GRCm39) D89G probably damaging Het
Myo5a T A 9: 75,087,394 (GRCm39) N1083K probably benign Het
Ncapd3 C T 9: 26,999,294 (GRCm39) A1290V probably benign Het
Nefm A G 14: 68,362,070 (GRCm39) S65P probably damaging Het
Nt5c2 C T 19: 46,886,064 (GRCm39) R220H probably damaging Het
Or4c102 T A 2: 88,422,353 (GRCm39) D68E probably benign Het
Osbpl1a A T 18: 12,892,501 (GRCm39) S438R probably damaging Het
Pcdhb5 T C 18: 37,453,820 (GRCm39) S67P possibly damaging Het
Per3 A T 4: 151,118,409 (GRCm39) I228N probably damaging Het
Pnpla7 T G 2: 24,870,129 (GRCm39) probably benign Het
Ppp1r15b G T 1: 133,064,391 (GRCm39) probably benign Het
Psmd2 G T 16: 20,479,176 (GRCm39) L678F probably null Het
Ptch2 A G 4: 116,963,340 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,158 (GRCm39) D959E probably benign Het
Rph3al C T 11: 75,724,227 (GRCm39) probably null Het
Sec31b T A 19: 44,512,992 (GRCm39) E499V probably damaging Het
Sel1l T C 12: 91,778,663 (GRCm39) I667M probably benign Het
Sel1l C A 12: 91,780,719 (GRCm39) V641L possibly damaging Het
Slc7a1 T A 5: 148,288,879 (GRCm39) I123F probably damaging Het
Smarca2 G A 19: 26,659,275 (GRCm39) R855Q possibly damaging Het
Sphk1 G T 11: 116,427,184 (GRCm39) probably benign Het
Spink12 C A 18: 44,237,755 (GRCm39) S11* probably null Het
Sstr2 A T 11: 113,516,445 (GRCm39) I342F probably benign Het
Stxbp1 T C 2: 32,709,860 (GRCm39) T78A probably benign Het
Trim11 T A 11: 58,881,410 (GRCm39) S434R probably damaging Het
Ubr2 T C 17: 47,266,812 (GRCm39) E1113G probably damaging Het
Upb1 T A 10: 75,264,188 (GRCm39) probably benign Het
Vit T A 17: 78,932,266 (GRCm39) C458S probably damaging Het
Vmn1r58 T C 7: 5,414,165 (GRCm39) I22V probably benign Het
Vps25 T C 11: 101,149,731 (GRCm39) probably benign Het
Wbp2 G T 11: 115,973,211 (GRCm39) D65E possibly damaging Het
Wdr72 A G 9: 74,124,588 (GRCm39) D980G probably benign Het
Other mutations in Xkr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Xkr8 APN 4 132,455,357 (GRCm39) missense probably damaging 1.00
IGL02170:Xkr8 APN 4 132,455,688 (GRCm39) nonsense probably null
IGL02475:Xkr8 APN 4 132,455,512 (GRCm39) missense probably damaging 1.00
R0666:Xkr8 UTSW 4 132,459,649 (GRCm39) missense probably damaging 1.00
R1164:Xkr8 UTSW 4 132,459,722 (GRCm39) missense probably benign 0.00
R5699:Xkr8 UTSW 4 132,455,368 (GRCm39) missense probably damaging 1.00
R6650:Xkr8 UTSW 4 132,455,249 (GRCm39) missense probably benign 0.00
R7270:Xkr8 UTSW 4 132,455,648 (GRCm39) missense probably benign
R8022:Xkr8 UTSW 4 132,459,649 (GRCm39) missense probably damaging 1.00
R8223:Xkr8 UTSW 4 132,458,246 (GRCm39) missense probably damaging 1.00
R9105:Xkr8 UTSW 4 132,459,648 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AGCTCATGCAGCTTGAATCCAGAC -3'
(R):5'- AGGAGAGTTATTACAGGCAGGCCC -3'

Sequencing Primer
(F):5'- AGAGTGAGAACACCTGCAGA -3'
(R):5'- ttacggacgaggaagcaag -3'
Posted On 2013-06-11