Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02313:Cxcr6'

287905

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cxcr6

Ensembl Gene

ENSMUSG00000048521

Gene Name

chemokine (C-X-C motif) receptor 6

Synonyms

STRL33, BONZO

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

123806475-123811760 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 123810705 bp

Zygosity

Heterozygous

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8426:Cxcr6	UTSW	9	123810006	missense	probably benign	0.00
R8824:Cxcr6	UTSW	9	123810941	missense	probably benign	0.08

Posted On

2015-04-16