Incidental Mutation 'IGL01990:Xkr9'
ID182022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr9
Ensembl Gene ENSMUSG00000067813
Gene NameX-linked Kx blood group related 9
SynonymsLOC381246
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL01990
Quality Score
Status
Chromosome1
Chromosomal Location13668771-13701723 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13700979 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 240 (I240V)
Ref Sequence ENSEMBL: ENSMUSP00000085900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088542]
Predicted Effect probably benign
Transcript: ENSMUST00000088542
AA Change: I240V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085900
Gene: ENSMUSG00000067813
AA Change: I240V

DomainStartEndE-ValueType
Pfam:XK-related 9 346 2.8e-87 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl9 A G 17: 33,434,094 N376S probably benign Het
Adgrv1 T C 13: 81,556,996 D1565G probably damaging Het
Atf5 T G 7: 44,813,049 D217A probably damaging Het
Azgp1 T C 5: 137,989,735 W260R probably damaging Het
Cnr2 C T 4: 135,916,805 R65C probably damaging Het
Col14a1 A G 15: 55,363,463 Y203C unknown Het
Colec11 A G 12: 28,594,986 Y170H probably benign Het
Exosc10 A G 4: 148,566,410 Q471R possibly damaging Het
Gal3st1 G T 11: 3,998,741 W316L probably damaging Het
Igfbp3 C A 11: 7,208,504 R253L probably damaging Het
Kcnb2 A T 1: 15,312,954 D168V probably benign Het
Khnyn T G 14: 55,887,588 I433S possibly damaging Het
Naaa T A 5: 92,268,063 T193S possibly damaging Het
Nsun7 G A 5: 66,261,073 D49N probably damaging Het
Pappa T C 4: 65,156,687 probably benign Het
Pfkfb2 A G 1: 130,705,370 probably benign Het
Pkd1l3 C T 8: 109,660,806 T1794I probably damaging Het
Prex2 A C 1: 11,123,233 probably benign Het
Slc2a7 T G 4: 150,154,684 I122S possibly damaging Het
Slc31a2 A G 4: 62,295,970 K53E probably benign Het
Slc35f4 C T 14: 49,304,169 probably null Het
Slc38a7 C T 8: 95,844,962 W213* probably null Het
Slc5a4b T C 10: 76,060,354 E589G probably benign Het
Syne2 A G 12: 76,054,933 N5407S probably damaging Het
Tgm2 A T 2: 158,124,131 D534E probably benign Het
Ugt1a7c A G 1: 88,095,602 Y161C probably damaging Het
Vmn2r114 A G 17: 23,310,381 M249T probably benign Het
Zfat A G 15: 68,224,817 L49P probably damaging Het
Zfhx2 G T 14: 55,073,590 P549H probably damaging Het
Zfp551 C T 7: 12,422,416 V25M possibly damaging Het
Other mutations in Xkr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Xkr9 APN 1 13701376 missense probably damaging 1.00
IGL02405:Xkr9 APN 1 13672773 splice site probably benign
IGL02523:Xkr9 APN 1 13684250 missense probably benign 0.01
IGL02792:Xkr9 APN 1 13700803 missense probably damaging 1.00
IGL02820:Xkr9 APN 1 13700949 missense probably benign
IGL02821:Xkr9 APN 1 13672575 missense probably damaging 1.00
IGL03170:Xkr9 APN 1 13700812 missense possibly damaging 0.72
IGL03222:Xkr9 APN 1 13701281 nonsense probably null
R0044:Xkr9 UTSW 1 13684062 nonsense probably null
R0044:Xkr9 UTSW 1 13684062 nonsense probably null
R0595:Xkr9 UTSW 1 13700784 missense probably benign 0.02
R1337:Xkr9 UTSW 1 13701124 missense possibly damaging 0.94
R1670:Xkr9 UTSW 1 13700943 missense probably damaging 0.97
R5007:Xkr9 UTSW 1 13701163 missense probably damaging 0.98
R6133:Xkr9 UTSW 1 13684135 missense probably benign 0.01
R6302:Xkr9 UTSW 1 13672502 missense probably damaging 1.00
R8153:Xkr9 UTSW 1 13684139 missense probably benign 0.10
R8440:Xkr9 UTSW 1 13701379 missense probably benign 0.31
R8520:Xkr9 UTSW 1 13701379 missense probably benign 0.31
X0025:Xkr9 UTSW 1 13672634 missense probably benign 0.43
Posted On2014-05-07