Incidental Mutation 'IGL02983:Xkr5'
ID 406614
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr5
Ensembl Gene ENSMUSG00000039814
Gene Name X-linked Kx blood group related 5
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02983
Quality Score
Status
Chromosome 8
Chromosomal Location 18932729-18950975 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18933832 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 565 (I565V)
Ref Sequence ENSEMBL: ENSMUSP00000093089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055503] [ENSMUST00000095438] [ENSMUST00000143913] [ENSMUST00000152974]
AlphaFold Q5GH66
Predicted Effect probably benign
Transcript: ENSMUST00000055503
AA Change: I399V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: I399V

DomainStartEndE-ValueType
Pfam:XK-related 1 155 1.4e-46 PFAM
low complexity region 240 247 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000095438
AA Change: I565V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: I565V

DomainStartEndE-ValueType
Pfam:XK-related 5 321 1.6e-87 PFAM
low complexity region 406 413 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143913
SMART Domains Protein: ENSMUSP00000121958
Gene: ENSMUSG00000039814

DomainStartEndE-ValueType
Pfam:XK-related 2 109 2.8e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144987
Predicted Effect probably benign
Transcript: ENSMUST00000152974
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157795
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Taf6 T C 5: 138,178,880 T642A probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Xkr5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01505:Xkr5 APN 8 18933498 missense probably damaging 1.00
IGL02153:Xkr5 APN 8 18933667 missense probably benign 0.09
IGL02637:Xkr5 APN 8 18934083 missense probably benign 0.00
IGL02968:Xkr5 APN 8 18933625 missense probably benign 0.13
IGL03222:Xkr5 APN 8 18937299 missense probably damaging 0.98
PIT4431001:Xkr5 UTSW 8 18934345 missense possibly damaging 0.67
R0336:Xkr5 UTSW 8 18940636 missense possibly damaging 0.93
R0638:Xkr5 UTSW 8 18933547 missense probably benign 0.00
R1644:Xkr5 UTSW 8 18934125 missense probably benign 0.03
R1703:Xkr5 UTSW 8 18939118 missense probably benign 0.15
R1777:Xkr5 UTSW 8 18939132 missense probably benign 0.33
R1972:Xkr5 UTSW 8 18941981 missense probably damaging 1.00
R3715:Xkr5 UTSW 8 18934458 missense probably benign 0.03
R4274:Xkr5 UTSW 8 18934167 missense probably benign 0.00
R4603:Xkr5 UTSW 8 18933717 missense possibly damaging 0.70
R4742:Xkr5 UTSW 8 18948730 makesense probably null
R5019:Xkr5 UTSW 8 18942110 missense probably benign 0.00
R5103:Xkr5 UTSW 8 18933643 missense probably benign 0.00
R5331:Xkr5 UTSW 8 18933468 utr 3 prime probably benign
R5649:Xkr5 UTSW 8 18933966 missense probably benign 0.00
R5883:Xkr5 UTSW 8 18940790 missense probably damaging 1.00
R6005:Xkr5 UTSW 8 18934505 missense probably benign 0.00
R6393:Xkr5 UTSW 8 18948700 missense probably damaging 1.00
R6615:Xkr5 UTSW 8 18933553 missense probably benign 0.05
R7488:Xkr5 UTSW 8 18933592 nonsense probably null
R8011:Xkr5 UTSW 8 18948720 nonsense probably null
R8678:Xkr5 UTSW 8 18934032 missense probably benign 0.01
R8928:Xkr5 UTSW 8 18933771 missense probably benign 0.01
Z1177:Xkr5 UTSW 8 18940785 missense probably damaging 1.00
Posted On 2016-08-02