Incidental Mutation 'IGL01990:Xkr9'
ID 182022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr9
Ensembl Gene ENSMUSG00000067813
Gene Name X-linked Kx blood group related 9
Synonyms LOC381246
Accession Numbers
Essential gene? Probably non essential (E-score: 0.065) question?
Stock # IGL01990
Quality Score
Status
Chromosome 1
Chromosomal Location 13738995-13771947 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 13771203 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 240 (I240V)
Ref Sequence ENSEMBL: ENSMUSP00000085900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088542]
AlphaFold Q5GH62
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: 33,653,068 (GRCm39) N376S probably benign Het
Adgrv1 T C 13: 81,705,115 (GRCm39) D1565G probably damaging Het
Atf5 T G 7: 44,462,473 (GRCm39) D217A probably damaging Het
Azgp1 T C 5: 137,987,997 (GRCm39) W260R probably damaging Het
Cnr2 C T 4: 135,644,116 (GRCm39) R65C probably damaging Het
Col14a1 A G 15: 55,226,859 (GRCm39) Y203C unknown Het
Colec11 A G 12: 28,644,985 (GRCm39) Y170H probably benign Het
Exosc10 A G 4: 148,650,867 (GRCm39) Q471R possibly damaging Het
Gal3st1 G T 11: 3,948,741 (GRCm39) W316L probably damaging Het
Igfbp3 C A 11: 7,158,504 (GRCm39) R253L probably damaging Het
Kcnb2 A T 1: 15,383,178 (GRCm39) D168V probably benign Het
Khnyn T G 14: 56,125,045 (GRCm39) I433S possibly damaging Het
Naaa T A 5: 92,415,922 (GRCm39) T193S possibly damaging Het
Nsun7 G A 5: 66,418,416 (GRCm39) D49N probably damaging Het
Pappa T C 4: 65,074,924 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,633,107 (GRCm39) probably benign Het
Pkd1l3 C T 8: 110,387,438 (GRCm39) T1794I probably damaging Het
Prex2 A C 1: 11,193,457 (GRCm39) probably benign Het
Slc2a7 T G 4: 150,239,141 (GRCm39) I122S possibly damaging Het
Slc31a2 A G 4: 62,214,207 (GRCm39) K53E probably benign Het
Slc35f4 C T 14: 49,541,626 (GRCm39) probably null Het
Slc38a7 C T 8: 96,571,590 (GRCm39) W213* probably null Het
Slc5a4b T C 10: 75,896,188 (GRCm39) E589G probably benign Het
Syne2 A G 12: 76,101,707 (GRCm39) N5407S probably damaging Het
Tgm2 A T 2: 157,966,051 (GRCm39) D534E probably benign Het
Ugt1a7c A G 1: 88,023,324 (GRCm39) Y161C probably damaging Het
Vmn2r114 A G 17: 23,529,355 (GRCm39) M249T probably benign Het
Zfat A G 15: 68,096,666 (GRCm39) L49P probably damaging Het
Zfhx2 G T 14: 55,311,047 (GRCm39) P549H probably damaging Het
Zfp551 C T 7: 12,156,343 (GRCm39) V25M possibly damaging Het
Other mutations in Xkr9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02090:Xkr9 APN 1 13,771,600 (GRCm39) missense probably damaging 1.00
IGL02405:Xkr9 APN 1 13,742,997 (GRCm39) splice site probably benign
IGL02523:Xkr9 APN 1 13,754,474 (GRCm39) missense probably benign 0.01
IGL02792:Xkr9 APN 1 13,771,027 (GRCm39) missense probably damaging 1.00
IGL02820:Xkr9 APN 1 13,771,173 (GRCm39) missense probably benign
IGL02821:Xkr9 APN 1 13,742,799 (GRCm39) missense probably damaging 1.00
IGL03170:Xkr9 APN 1 13,771,036 (GRCm39) missense possibly damaging 0.72
IGL03222:Xkr9 APN 1 13,771,505 (GRCm39) nonsense probably null
R0044:Xkr9 UTSW 1 13,754,286 (GRCm39) nonsense probably null
R0044:Xkr9 UTSW 1 13,754,286 (GRCm39) nonsense probably null
R0595:Xkr9 UTSW 1 13,771,008 (GRCm39) missense probably benign 0.02
R1337:Xkr9 UTSW 1 13,771,348 (GRCm39) missense possibly damaging 0.94
R1670:Xkr9 UTSW 1 13,771,167 (GRCm39) missense probably damaging 0.97
R5007:Xkr9 UTSW 1 13,771,387 (GRCm39) missense probably damaging 0.98
R6133:Xkr9 UTSW 1 13,754,359 (GRCm39) missense probably benign 0.01
R6302:Xkr9 UTSW 1 13,742,726 (GRCm39) missense probably damaging 1.00
R8153:Xkr9 UTSW 1 13,754,363 (GRCm39) missense probably benign 0.10
R8440:Xkr9 UTSW 1 13,771,603 (GRCm39) missense probably benign 0.31
R8520:Xkr9 UTSW 1 13,771,603 (GRCm39) missense probably benign 0.31
R8823:Xkr9 UTSW 1 13,742,832 (GRCm39) missense probably benign 0.43
R8985:Xkr9 UTSW 1 13,770,990 (GRCm39) missense probably benign
R9084:Xkr9 UTSW 1 13,742,733 (GRCm39) missense probably benign 0.15
R9441:Xkr9 UTSW 1 13,771,587 (GRCm39) missense possibly damaging 0.94
R9658:Xkr9 UTSW 1 13,771,318 (GRCm39) missense probably damaging 1.00
X0025:Xkr9 UTSW 1 13,742,858 (GRCm39) missense probably benign 0.43
Posted On 2014-05-07