Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01524:Vmn1r216'

89490

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vmn1r216

Ensembl Gene

ENSMUSG00000116057

Gene Name

Synonyms

V1ri10

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL01524

Quality Score

Status

Chromosome

Chromosomal Location

23099071-23100129 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 23099349 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 67 (N67K)

Ref Sequence

ENSEMBL: ENSMUSP00000153991 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080253] [ENSMUST00000228389] [ENSMUST00000228802]

Predicted Effect

probably benign
Transcript: ENSMUST00000080253
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000079139
Gene: ENSMUSG00000116057
AA Change: N67K

Domain	Start	End	E-Value	Type
Pfam:TAS2R	5	295	2.7e-7	PFAM
Pfam:V1R	35	297	4.3e-35	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119967

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227317

Predicted Effect

probably benign
Transcript: ENSMUST00000228389
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000228802
AA Change: N67K

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,942,382	D1081G	possibly damaging	Het
Aadat	A	T	8: 60,516,072	D117V	probably damaging	Het
Abca14	T	C	7: 120,253,421	Y870H	possibly damaging	Het
Ankrd36	T	C	11: 5,635,092	I301T	probably benign	Het
Atp10b	T	A	11: 43,259,845	S1457T	probably benign	Het
Ccdc175	G	A	12: 72,131,142		probably benign	Het
Ccdc93	A	G	1: 121,461,899	K224E	probably benign	Het
Cep131	C	T	11: 120,065,960	A886T	probably damaging	Het
Clip1	A	C	5: 123,579,379	H1282Q	probably damaging	Het
Ctcfl	T	G	2: 173,117,384	D183A	probably benign	Het
Cyp17a1	C	T	19: 46,671,056	V112I	probably benign	Het
D3Ertd254e	T	C	3: 36,164,580	Y251H	possibly damaging	Het
Fhod3	T	C	18: 25,130,602	I1521T	probably damaging	Het
Gipc2	A	G	3: 152,137,577	I141T	probably damaging	Het
Glo1	T	C	17: 30,596,419	R141G	possibly damaging	Het
Ipmk	C	A	10: 71,372,801	A140E	probably damaging	Het
Kynu	A	G	2: 43,671,382	D310G	possibly damaging	Het
Myo1f	T	A	17: 33,579,883	I174N	probably damaging	Het
Nat10	T	A	2: 103,757,757	N8Y	probably damaging	Het
Nhlrc2	A	G	19: 56,576,155	I304V	probably benign	Het
Pdk4	T	C	6: 5,491,979	H31R	probably damaging	Het
Sema6d	T	C	2: 124,664,075	V644A	possibly damaging	Het
Slc30a4	T	A	2: 122,702,388	K11N	possibly damaging	Het
Slc6a3	T	C	13: 73,538,549	S12P	probably benign	Het
Spats2	C	T	15: 99,212,246	A508V	probably benign	Het
Tinag	A	G	9: 77,045,538	Y55H	probably damaging	Het
Topbp1	T	C	9: 103,311,645	I172T	possibly damaging	Het
Trim17	A	G	11: 58,970,597	T279A	probably damaging	Het
Washc4	T	C	10: 83,576,132	L709P	probably benign	Het
Xdh	T	C	17: 73,923,137		probably null	Het
Zfhx4	C	T	3: 5,243,976	P754L	probably damaging	Het
Zfp623	C	A	15: 75,947,679	S161R	probably benign	Het
Zmat3	G	A	3: 32,341,678	R227C	possibly damaging	Het

Other mutations in Vmn1r216

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Vmn1r216	APN	13	23099404	missense	probably benign	0.03
IGL01673:Vmn1r216	APN	13	23099471	missense	probably damaging	1.00
IGL02474:Vmn1r216	APN	13	23099477	missense	possibly damaging	0.90
IGL02867:Vmn1r216	APN	13	23099479	missense	probably damaging	1.00
IGL02889:Vmn1r216	APN	13	23099479	missense	probably damaging	1.00
IGL03289:Vmn1r216	APN	13	23100012	missense	possibly damaging	0.94
R0113:Vmn1r216	UTSW	13	23099461	missense	probably damaging	1.00
R2008:Vmn1r216	UTSW	13	23099491	missense	probably damaging	1.00
R2191:Vmn1r216	UTSW	13	23099233	missense	probably benign	0.39
R2960:Vmn1r216	UTSW	13	23099933	missense	probably benign	0.23
R3522:Vmn1r216	UTSW	13	23099374	missense	possibly damaging	0.54
R3697:Vmn1r216	UTSW	13	23099679	nonsense	probably null
R4024:Vmn1r216	UTSW	13	23099891	missense	probably damaging	1.00
R4797:Vmn1r216	UTSW	13	23099336	missense	probably benign	0.02
R5088:Vmn1r216	UTSW	13	23099303	nonsense	probably null
R5412:Vmn1r216	UTSW	13	23099911	missense	probably benign	0.03
R5905:Vmn1r216	UTSW	13	23099197	missense	probably damaging	1.00
R6006:Vmn1r216	UTSW	13	23099758	missense	probably benign	0.01
R6020:Vmn1r216	UTSW	13	23099935	missense	probably benign	0.04
R6213:Vmn1r216	UTSW	13	23099169	missense	probably benign	0.21
R6897:Vmn1r216	UTSW	13	23099275	nonsense	probably null
R7483:Vmn1r216	UTSW	13	23099568	missense	probably damaging	1.00
R7487:Vmn1r216	UTSW	13	23099860	missense	probably damaging	1.00
R8213:Vmn1r216	UTSW	13	23099525	missense	probably benign	0.45

Posted On

2013-12-03