Incidental Mutation 'IGL02715:Xkr7'
ID 304702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xkr7
Ensembl Gene ENSMUSG00000042631
Gene Name X-linked Kx blood group related 7
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.138) question?
Stock # IGL02715
Quality Score
Status
Chromosome 2
Chromosomal Location 152873772-152897695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 152896277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 377 (E377G)
Ref Sequence ENSEMBL: ENSMUSP00000049346 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037235]
AlphaFold Q5GH64
Predicted Effect probably damaging
Transcript: ENSMUST00000037235
AA Change: E377G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049346
Gene: ENSMUSG00000042631
AA Change: E377G

DomainStartEndE-ValueType
low complexity region 2 46 N/A INTRINSIC
low complexity region 92 107 N/A INTRINSIC
low complexity region 170 193 N/A INTRINSIC
IQ 196 218 1.28e1 SMART
low complexity region 260 274 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T C 11: 72,089,714 (GRCm39) I57V probably damaging Het
Abce1 T A 8: 80,416,990 (GRCm39) E340D probably damaging Het
Agbl2 C T 2: 90,636,212 (GRCm39) R583W probably damaging Het
Aig1 A G 10: 13,744,360 (GRCm39) probably null Het
Atpsckmt A G 15: 31,606,149 (GRCm39) T36A probably benign Het
Brd3 C A 2: 27,344,495 (GRCm39) A412S possibly damaging Het
C3 A G 17: 57,511,158 (GRCm39) probably benign Het
Ccdc127 A G 13: 74,504,893 (GRCm39) E147G probably benign Het
Chrna4 A G 2: 180,671,374 (GRCm39) probably benign Het
Cnn2 T C 10: 79,829,323 (GRCm39) L151P probably damaging Het
Col11a1 G T 3: 113,923,058 (GRCm39) M7I probably benign Het
Cstdc4 T C 16: 36,008,315 (GRCm39) I67T possibly damaging Het
Fastkd1 A G 2: 69,542,469 (GRCm39) probably null Het
Fcho2 A G 13: 98,932,843 (GRCm39) M53T probably damaging Het
Fmnl2 T C 2: 52,962,222 (GRCm39) Y236H possibly damaging Het
G6bos A G 17: 35,284,537 (GRCm39) probably null Het
Gramd1a C T 7: 30,835,279 (GRCm39) G436D probably damaging Het
Hivep2 A G 10: 14,007,131 (GRCm39) Y1243C probably benign Het
Lrit2 A G 14: 36,794,505 (GRCm39) D523G probably benign Het
Lrrc2 A C 9: 110,799,182 (GRCm39) D177A probably damaging Het
Lyst T A 13: 13,848,905 (GRCm39) probably null Het
Mrgpra6 A T 7: 46,838,396 (GRCm39) probably benign Het
Myh6 T C 14: 55,184,365 (GRCm39) probably benign Het
Myzap C A 9: 71,422,397 (GRCm39) E392* probably null Het
Ndst3 G A 3: 123,340,410 (GRCm39) probably benign Het
Nlrc5 C A 8: 95,201,296 (GRCm39) P130H probably damaging Het
Obscn T C 11: 58,971,137 (GRCm39) T2526A probably benign Het
Or1e26 T A 11: 73,479,947 (GRCm39) I206F probably benign Het
Pcnt C A 10: 76,204,556 (GRCm39) probably benign Het
Pfpl T A 19: 12,407,145 (GRCm39) C465* probably null Het
Pkd1l3 T A 8: 110,353,458 (GRCm39) C680S probably damaging Het
Ppp1r10 G T 17: 36,241,604 (GRCm39) G793V unknown Het
Prss27 A T 17: 24,263,953 (GRCm39) D213V possibly damaging Het
Sh2d5 T C 4: 137,984,018 (GRCm39) probably benign Het
Spata31d1a T C 13: 59,851,549 (GRCm39) D193G probably benign Het
Sptan1 T C 2: 29,868,588 (GRCm39) V66A probably benign Het
Synpr T C 14: 13,608,618 (GRCm38) S133P probably damaging Het
Tagln3 T C 16: 45,544,588 (GRCm39) N28D probably benign Het
Tfrc A G 16: 32,443,189 (GRCm39) T494A probably benign Het
Tmem38a T C 8: 73,333,512 (GRCm39) I77T possibly damaging Het
Tmem42 C A 9: 122,851,295 (GRCm39) T86N probably damaging Het
Ttc8 T A 12: 98,910,179 (GRCm39) probably benign Het
Tub G A 7: 108,628,517 (GRCm39) V342I probably benign Het
Vmn2r103 A T 17: 20,014,218 (GRCm39) I337F probably damaging Het
Zfp292 C T 4: 34,819,542 (GRCm39) G260D probably damaging Het
Other mutations in Xkr7
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0125:Xkr7 UTSW 2 152,874,346 (GRCm39) missense probably benign 0.01
R0531:Xkr7 UTSW 2 152,874,272 (GRCm39) missense possibly damaging 0.65
R1121:Xkr7 UTSW 2 152,896,343 (GRCm39) missense probably damaging 1.00
R2092:Xkr7 UTSW 2 152,895,983 (GRCm39) missense probably damaging 0.98
R2132:Xkr7 UTSW 2 152,894,816 (GRCm39) missense probably benign
R2264:Xkr7 UTSW 2 152,896,177 (GRCm39) missense probably damaging 1.00
R2337:Xkr7 UTSW 2 152,896,318 (GRCm39) missense possibly damaging 0.94
R2341:Xkr7 UTSW 2 152,896,318 (GRCm39) missense possibly damaging 0.94
R4270:Xkr7 UTSW 2 152,896,235 (GRCm39) missense possibly damaging 0.80
R4513:Xkr7 UTSW 2 152,896,553 (GRCm39) missense probably benign 0.39
R4880:Xkr7 UTSW 2 152,896,873 (GRCm39) missense probably damaging 1.00
R5022:Xkr7 UTSW 2 152,896,300 (GRCm39) missense probably benign 0.00
R5023:Xkr7 UTSW 2 152,896,300 (GRCm39) missense probably benign 0.00
R5057:Xkr7 UTSW 2 152,896,300 (GRCm39) missense probably benign 0.00
R5198:Xkr7 UTSW 2 152,896,873 (GRCm39) missense probably damaging 1.00
R5433:Xkr7 UTSW 2 152,896,244 (GRCm39) missense probably damaging 1.00
R7385:Xkr7 UTSW 2 152,895,983 (GRCm39) nonsense probably null
R7940:Xkr7 UTSW 2 152,874,135 (GRCm39) missense probably damaging 1.00
R8334:Xkr7 UTSW 2 152,896,883 (GRCm39) missense probably damaging 1.00
R8938:Xkr7 UTSW 2 152,874,133 (GRCm39) missense probably damaging 1.00
R9600:Xkr7 UTSW 2 152,896,393 (GRCm39) missense probably benign 0.03
X0061:Xkr7 UTSW 2 152,896,103 (GRCm39) missense probably benign 0.44
Z1177:Xkr7 UTSW 2 152,896,417 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16