Incidental Mutation 'R5699:Xkr8'
ID 446558
Institutional Source Beutler Lab
Gene Symbol Xkr8
Ensembl Gene ENSMUSG00000037752
Gene Name X-linked Kx blood group related 8
Synonyms 4931440N07Rik, LOC381560
MMRRC Submission 043327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.122) question?
Stock # R5699 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132452208-132459857 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 132455368 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 335 (R335H)
Ref Sequence ENSEMBL: ENSMUSP00000041205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000030709] [ENSMUST00000045550] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
AlphaFold Q8C0T0
Predicted Effect probably benign
Transcript: ENSMUST00000020197
SMART Domains Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
PDB:4EGC|B 132 416 1e-136 PDB
Predicted Effect probably benign
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: R335H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
AA Change: R335H

DomainStartEndE-ValueType
Pfam:XK-related 14 345 2.3e-87 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079157
SMART Domains Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886

DomainStartEndE-ValueType
low complexity region 72 89 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
low complexity region 165 177 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
PDB:4EGC|B 226 510 1e-135 PDB
SCOP:d1lvha_ 345 507 8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081726
SMART Domains Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886

DomainStartEndE-ValueType
low complexity region 88 105 N/A INTRINSIC
low complexity region 129 148 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
low complexity region 208 219 N/A INTRINSIC
Pfam:Hydrolase 256 502 5.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150104
Predicted Effect probably benign
Transcript: ENSMUST00000180250
SMART Domains Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
PDB:4EGC|B 132 416 1e-136 PDB
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik A G 9: 8,225,320 (GRCm39) noncoding transcript Het
4930486L24Rik A G 13: 61,001,410 (GRCm39) F106L possibly damaging Het
Adam11 A T 11: 102,664,466 (GRCm39) M385L probably benign Het
Adgre1 C T 17: 57,788,007 (GRCm39) P925S probably benign Het
Adh7 G A 3: 137,932,087 (GRCm39) A234T probably benign Het
Ano2 A G 6: 125,849,703 (GRCm39) E475G probably damaging Het
C2cd4c A G 10: 79,448,385 (GRCm39) V254A probably benign Het
Car13 A G 3: 14,715,749 (GRCm39) Y89C probably damaging Het
Cd38 A G 5: 44,057,728 (GRCm39) K100R probably damaging Het
Cdh11 A G 8: 103,361,175 (GRCm39) I721T probably damaging Het
Cdh2 G A 18: 16,779,579 (GRCm39) Q161* probably null Het
Clk1 T C 1: 58,459,354 (GRCm39) K135R probably damaging Het
Col5a1 G A 2: 27,887,611 (GRCm39) G961R unknown Het
Cpt1b T A 15: 89,308,476 (GRCm39) I151F probably benign Het
Cyp51 A G 5: 4,151,213 (GRCm39) F139L probably damaging Het
Disp1 TTGA T 1: 182,870,119 (GRCm39) probably null Het
Dnah8 T C 17: 31,029,298 (GRCm39) I4089T probably benign Het
Dnali1 C T 4: 124,952,843 (GRCm39) V227M possibly damaging Het
Eml4 T G 17: 83,717,514 (GRCm39) S29A probably benign Het
Eps8l3 C A 3: 107,786,895 (GRCm39) P24T probably benign Het
Fancc A T 13: 63,478,446 (GRCm39) probably null Het
Firrm A T 1: 163,785,120 (GRCm39) V753D probably benign Het
Grid2 G A 6: 63,885,975 (GRCm39) A124T probably damaging Het
Ikbke C T 1: 131,204,204 (GRCm39) probably null Het
Kyat1 G A 2: 30,076,662 (GRCm39) A284V probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lmbrd2 G T 15: 9,175,269 (GRCm39) L393F probably benign Het
Lrrc26 T A 2: 25,180,536 (GRCm39) L179Q probably damaging Het
Mlx A G 11: 100,979,520 (GRCm39) D113G possibly damaging Het
Myod1 A G 7: 46,026,407 (GRCm39) K104R probably damaging Het
Nwd1 G A 8: 73,429,602 (GRCm39) probably null Het
Or56b2j T G 7: 104,353,200 (GRCm39) V142G probably damaging Het
Or5b118 A G 19: 13,448,336 (GRCm39) M1V probably null Het
Or6c3 A C 10: 129,308,746 (GRCm39) N62H probably damaging Het
Pacsin3 A T 2: 91,093,126 (GRCm39) Y206F probably damaging Het
Pcdhgb5 T A 18: 37,864,970 (GRCm39) V255E probably damaging Het
Pdp1 T C 4: 11,960,907 (GRCm39) D468G possibly damaging Het
Pgr C T 9: 8,900,600 (GRCm39) probably benign Het
Prrt2 T A 7: 126,617,899 (GRCm39) Y345F probably benign Het
Rbbp8nl T C 2: 179,920,461 (GRCm39) T515A probably damaging Het
Rc3h1 G T 1: 160,757,823 (GRCm39) R47L probably damaging Het
Rfpl4b T A 10: 38,697,281 (GRCm39) I107F possibly damaging Het
Rsbn1 T C 3: 103,869,801 (GRCm39) F754S probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Scn3a T C 2: 65,337,608 (GRCm39) T630A possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slco1a5 C A 6: 142,194,542 (GRCm39) C367F probably damaging Het
Slit1 A G 19: 41,613,959 (GRCm39) probably null Het
Slit2 G A 5: 48,378,333 (GRCm39) probably null Het
Snrnp40 G T 4: 130,258,958 (GRCm39) G122V possibly damaging Het
Stk16 T A 1: 75,190,248 (GRCm39) M111K probably damaging Het
Tbc1d2 T C 4: 46,616,298 (GRCm39) I477V probably benign Het
Tll1 T A 8: 64,570,974 (GRCm39) E199D probably damaging Het
Trhde A T 10: 114,424,407 (GRCm39) D459E probably benign Het
Ttn T C 2: 76,541,881 (GRCm39) R25375G possibly damaging Het
Tubgcp2 A T 7: 139,578,701 (GRCm39) M757K possibly damaging Het
Ubap1l T A 9: 65,279,337 (GRCm39) V212D possibly damaging Het
Ubqln5 A G 7: 103,778,632 (GRCm39) V64A possibly damaging Het
Usp47 A G 7: 111,709,204 (GRCm39) M1337V probably benign Het
Vmn1r201 T A 13: 22,659,409 (GRCm39) Y208N probably damaging Het
Zbtb49 A T 5: 38,373,870 (GRCm39) C25S probably damaging Het
Zeb2 T A 2: 44,887,800 (GRCm39) N404I probably damaging 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
R0565:Xkr8 UTSW 4 132,458,228 (GRCm39) splice site probably null
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
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'- AGGACTCCATTCAGCTGCAC -3'
(R):5'- TGACAATGGCCCTCATCCTC -3'

Sequencing Primer
(F):5'- AGCTGCACCTCCTCTGTCAG -3'
(R):5'- CTCCTGGTTCAACGTGTCTGG -3'
Posted On 2016-11-21