Incidental Mutation 'IGL02313:Cxcr6'
ID287905
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cxcr6
Ensembl Gene ENSMUSG00000048521
Gene Namechemokine (C-X-C motif) receptor 6
SynonymsSTRL33, BONZO
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02313
Quality Score
Status
Chromosome9
Chromosomal Location123806475-123811760 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 123810705 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 264 (N264S)
Ref Sequence ENSEMBL: ENSMUSP00000151182 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049810] [ENSMUST00000084715] [ENSMUST00000167595] [ENSMUST00000216072]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049810
AA Change: N257S

PolyPhen 2 Score 0.829 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060776
Gene: ENSMUSG00000048521
AA Change: N257S

DomainStartEndE-ValueType
Pfam:7tm_1 57 297 5.2e-43 PFAM
low complexity region 324 334 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000084715
SMART Domains Protein: ENSMUSP00000081764
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 19 167 4.7e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167595
SMART Domains Protein: ENSMUSP00000133222
Gene: ENSMUSG00000025241

DomainStartEndE-ValueType
Pfam:RUN 20 167 7.8e-12 PFAM
low complexity region 196 206 N/A INTRINSIC
coiled coil region 223 270 N/A INTRINSIC
coiled coil region 348 1110 N/A INTRINSIC
FYVE 1124 1191 2.69e-16 SMART
PDB:1OLM|E 1343 1428 1e-5 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000216072
AA Change: N264S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: A small percentage of mice that are heterozygous or homozygous for a knock-out allele develop medulloblastomas in the cerebellum after 12 months of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fam49a A G 12: 12,364,751 T248A possibly damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Cxcr6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03192:Cxcr6 APN 9 123810046 missense possibly damaging 0.52
IGL03342:Cxcr6 APN 9 123810407 nonsense probably null
PIT4362001:Cxcr6 UTSW 9 123810461 missense probably benign 0.00
R0399:Cxcr6 UTSW 9 123810951 missense possibly damaging 0.70
R0487:Cxcr6 UTSW 9 123810398 missense probably benign 0.02
R1496:Cxcr6 UTSW 9 123810347 missense probably benign 0.12
R1662:Cxcr6 UTSW 9 123810548 missense possibly damaging 0.71
R1733:Cxcr6 UTSW 9 123810116 missense probably damaging 1.00
R1869:Cxcr6 UTSW 9 123809957 missense probably benign 0.37
R3055:Cxcr6 UTSW 9 123810464 missense probably damaging 1.00
R3056:Cxcr6 UTSW 9 123810464 missense probably damaging 1.00
R3771:Cxcr6 UTSW 9 123810485 missense probably benign 0.02
R3828:Cxcr6 UTSW 9 123810869 missense probably benign
R4810:Cxcr6 UTSW 9 123810162 missense probably damaging 1.00
R5685:Cxcr6 UTSW 9 123810746 missense probably benign 0.01
R5748:Cxcr6 UTSW 9 123810341 missense probably damaging 1.00
R6210:Cxcr6 UTSW 9 123810008 missense possibly damaging 0.95
R6612:Cxcr6 UTSW 9 123810720 missense probably damaging 1.00
R6773:Cxcr6 UTSW 9 123810290 missense possibly damaging 0.83
R7414:Cxcr6 UTSW 9 123810222 nonsense probably null
R7427:Cxcr6 UTSW 9 123810240 missense probably benign 0.41
R7428:Cxcr6 UTSW 9 123810240 missense probably benign 0.41
R7863:Cxcr6 UTSW 9 123810849 missense probably damaging 0.98
R7946:Cxcr6 UTSW 9 123810849 missense probably damaging 0.98
Posted On2015-04-16