Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03347:Gm4737'

419531

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4737

Ensembl Gene

ENSMUSG00000048087

Gene Name

predicted gene 4737

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.943) question?

Stock #

IGL03347

Quality Score

Status

Chromosome

Chromosomal Location

46152985-46155077 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46154489 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 175 (V175A)

Ref Sequence

ENSEMBL: ENSMUSP00000127198 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059524]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059524
AA Change: V175A

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000127198
Gene: ENSMUSG00000048087
AA Change: V175A

Domain	Start	End	E-Value	Type
AdoHcyase	6	431	N/A	SMART
AdoHcyase_NAD	191	352	1.49e-118	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,959,238	S670T	possibly damaging	Het
Adamts9	G	T	6: 92,887,432	Y185*	probably null	Het
Arid3a	T	A	10: 79,951,279	S512R	possibly damaging	Het
Atf6b	T	C	17: 34,653,240	V524A	probably damaging	Het
B230118H07Rik	A	G	2: 101,583,519		probably null	Het
Camk2d	A	G	3: 126,796,901	T254A	probably damaging	Het
Camsap2	G	T	1: 136,280,986	Q923K	possibly damaging	Het
Car10	G	A	11: 93,100,296		probably benign	Het
Ccdc39	A	G	3: 33,837,843	L160P	probably damaging	Het
Cdh7	A	T	1: 110,138,243	D749V	possibly damaging	Het
Cox6a2	A	T	7: 128,205,728		probably benign	Het
Cpne1	A	T	2: 156,079,176	Y65N	probably damaging	Het
Dnm1	T	C	2: 32,353,187	D8G	probably benign	Het
Emsy	A	G	7: 98,610,685	S140P	probably damaging	Het
Fam13b	G	A	18: 34,462,051		probably benign	Het
Fbn2	T	C	18: 58,013,665	R2720G	probably damaging	Het
Fkbpl	A	G	17: 34,646,313		probably benign	Het
Gpr179	A	G	11: 97,351,838	L60P	probably damaging	Het
Igsf10	A	T	3: 59,331,900	S287T	possibly damaging	Het
Kat2b	G	A	17: 53,624,351		probably null	Het
Kazald1	A	G	19: 45,078,416	D218G	possibly damaging	Het
Mbtd1	A	G	11: 93,923,179	E216G	probably benign	Het
Mtmr9	C	A	14: 63,543,567	V25L	probably benign	Het
Myo16	A	G	8: 10,376,120		probably null	Het
Nfkbil1	A	T	17: 35,220,583	V318E	probably damaging	Het
Olfr1009	T	C	2: 85,721,807	V134A	probably benign	Het
Olfr697	A	T	7: 106,740,970		probably benign	Het
Pidd1	A	G	7: 141,439,168	V800A	probably damaging	Het
Ptprs	G	A	17: 56,435,972	S390L	probably benign	Het
Ralgapb	G	A	2: 158,465,960	V729I	possibly damaging	Het
Sfrp5	T	A	19: 42,198,768	M288L	probably benign	Het
Slc26a1	C	A	5: 108,673,810	G71V	probably damaging	Het
Srcin1	A	T	11: 97,525,344	S1021T	probably damaging	Het
Supt6	A	T	11: 78,232,185	M124K	possibly damaging	Het
Thada	A	G	17: 84,398,205	F1157S	probably damaging	Het
Tmcc2	A	G	1: 132,357,652	S424P	probably damaging	Het
Trim37	G	A	11: 87,201,621	R752Q	possibly damaging	Het
Unc80	A	T	1: 66,695,466	Q238L	probably damaging	Het
Vmn2r23	C	A	6: 123,704,374	H80Q	probably benign	Het
Wnt9a	A	T	11: 59,330,914	T213S	probably damaging	Het
Zfp953	T	A	13: 67,343,426	Q154L	probably benign	Het

Other mutations in Gm4737

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Gm4737	APN	16	46154078	missense	probably benign
R0326:Gm4737	UTSW	16	46153883	missense	probably benign	0.03
R0552:Gm4737	UTSW	16	46154592	missense	probably benign
R0610:Gm4737	UTSW	16	46153901	missense	probably damaging	1.00
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1465:Gm4737	UTSW	16	46153848	missense	probably benign	0.01
R1473:Gm4737	UTSW	16	46154819	missense	probably damaging	1.00
R2997:Gm4737	UTSW	16	46153925	missense	possibly damaging	0.83
R4546:Gm4737	UTSW	16	46153967	missense	possibly damaging	0.81
R4818:Gm4737	UTSW	16	46154192	missense	probably damaging	1.00
R6544:Gm4737	UTSW	16	46154784	missense	probably benign
R7358:Gm4737	UTSW	16	46153838	missense	probably damaging	1.00
R7689:Gm4737	UTSW	16	46154607	missense	probably benign	0.12
R8260:Gm4737	UTSW	16	46154423	missense	probably damaging	1.00
R9041:Gm4737	UTSW	16	46154105	missense	possibly damaging	0.86
R9048:Gm4737	UTSW	16	46154195	missense	probably damaging	1.00
Z1176:Gm4737	UTSW	16	46154229	missense	probably benign	0.14

Posted On

2016-08-02