Incidental Mutation 'IGL03222:Xkr5'
ID 413687
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 # IGL03222
Quality Score
Status
Chromosome 8
Chromosomal Location 18932729-18950975 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18937299 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 117 (T117A)
Ref Sequence ENSEMBL: ENSMUSP00000061748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055503] [ENSMUST00000095438] [ENSMUST00000143913] [ENSMUST00000152974]
AlphaFold Q5GH66
Predicted Effect probably damaging
Transcript: ENSMUST00000055503
AA Change: T117A

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000061748
Gene: ENSMUSG00000039814
AA Change: T117A

DomainStartEndE-ValueType
Pfam:XK-related 1 155 1.4e-46 PFAM
low complexity region 240 247 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000095438
AA Change: T283A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000093089
Gene: ENSMUSG00000039814
AA Change: T283A

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,470 D344G probably benign Het
Aqr A T 2: 114,121,256 L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 Y328H probably benign Het
Ebf2 A G 14: 67,411,992 probably null Het
Ebpl A G 14: 61,342,233 probably benign Het
Efcab5 A T 11: 77,137,367 D515E probably benign Het
Gon4l A G 3: 88,895,643 N1187S possibly damaging Het
Hmces A G 6: 87,925,692 R172G probably damaging Het
Ighv14-2 T C 12: 113,994,494 D109G possibly damaging Het
Kcnn1 C T 8: 70,848,199 R423H probably damaging Het
Muc13 T C 16: 33,798,965 S28P unknown Het
Olfr495 A T 7: 108,395,186 D22V possibly damaging Het
Olfr862 G T 9: 19,884,199 Y35* probably null Het
Polg T C 7: 79,454,656 T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 V782D probably damaging Het
Rin2 T A 2: 145,860,195 C270* probably null Het
Sdk2 C A 11: 113,838,431 V1107L probably benign Het
Sema5a T A 15: 32,628,158 V539E probably benign Het
Tiam2 T C 17: 3,438,708 S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Ttn T C 2: 76,755,739 T21883A probably damaging Het
Xkr9 T A 1: 13,701,281 Y340* probably null 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
IGL02983:Xkr5 APN 8 18933832 missense probably benign 0.00
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
R9572:Xkr5 UTSW 8 18934150 missense probably benign 0.41
R9579:Xkr5 UTSW 8 18933769 missense probably benign 0.02
R9622:Xkr5 UTSW 8 18934231 missense probably benign 0.02
R9762:Xkr5 UTSW 8 18940733 missense probably benign 0.00
Z1177:Xkr5 UTSW 8 18940785 missense probably damaging 1.00
Posted On 2016-08-02