Incidental Mutation 'IGL02475:Xkr8'
ID294917
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr8
Ensembl Gene ENSMUSG00000037752
Gene NameX-linked Kx blood group related 8
Synonyms4931440N07Rik, LOC381560
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.147) question?
Stock #IGL02475
Quality Score
Status
Chromosome4
Chromosomal Location132724897-132732546 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 132728201 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 287 (I287N)
Ref Sequence ENSEMBL: ENSMUSP00000041205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000030709] [ENSMUST00000045550] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
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: I287N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752
AA Change: I287N

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: ENSMUST00000143642
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145668
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tmem54 A T 4: 129,108,280 H40L probably damaging Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Xkr8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00591:Xkr8 APN 4 132728046 missense probably damaging 1.00
IGL02170:Xkr8 APN 4 132728377 nonsense probably null
R0565:Xkr8 UTSW 4 132730917 splice site probably null
R0666:Xkr8 UTSW 4 132732338 missense probably damaging 1.00
R1164:Xkr8 UTSW 4 132732411 missense probably benign 0.00
R5699:Xkr8 UTSW 4 132728057 missense probably damaging 1.00
R6650:Xkr8 UTSW 4 132727938 missense probably benign 0.00
R7270:Xkr8 UTSW 4 132728337 missense probably benign
R8022:Xkr8 UTSW 4 132732338 missense probably damaging 1.00
R8223:Xkr8 UTSW 4 132730935 missense probably damaging 1.00
Posted On2015-04-16