Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00556:Gm6370'

332597

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6370

Ensembl Gene

ENSMUSG00000096527

Gene Name

predicted gene 6370

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL00556

Quality Score

Status

Chromosome

Chromosomal Location

146491363-146494132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 146493913 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 303 (T303A)

Ref Sequence

ENSEMBL: ENSMUSP00000143740 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110611] [ENSMUST00000198912]

Predicted Effect

probably benign
Transcript: ENSMUST00000110611
AA Change: T299A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106241
Gene: ENSMUSG00000096527
AA Change: T299A

Domain	Start	End	E-Value	Type
RasGEFN	66	181	2.8e-4	SMART
low complexity region	265	283	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198912
AA Change: T303A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000143740
Gene: ENSMUSG00000096527
AA Change: T303A

Domain	Start	End	E-Value	Type
RasGEFN	66	181	1.4e-6	SMART
low complexity region	269	287	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,784,457	D225G	probably benign	Het
Abca12	T	C	1: 71,353,757	I108V	probably benign	Het
Atad2	A	G	15: 58,100,080	I723T	probably damaging	Het
Cct4	T	A	11: 22,997,656	V233E	possibly damaging	Het
Ces1a	A	G	8: 93,045,059	Y37H	probably benign	Het
Cgnl1	C	T	9: 71,656,056	R863Q	probably benign	Het
Fam13b	T	C	18: 34,497,435	D90G	probably damaging	Het
Fhdc1	A	T	3: 84,457,242	D232E	possibly damaging	Het
Gsdmc2	A	G	15: 63,828,271		probably benign	Het
Kif13b	T	A	14: 64,744,888	N516K	probably damaging	Het
Med1	A	G	11: 98,155,684		probably benign	Het
Med4	T	C	14: 73,517,267	M190T	probably damaging	Het
Myo15b	T	C	11: 115,891,916	V1534A	possibly damaging	Het
Neb	T	C	2: 52,191,949	R1722G	probably benign	Het
Obp2b	A	T	2: 25,738,581	I116F	probably damaging	Het
Rims2	A	G	15: 39,456,674		probably null	Het
Siglecg	A	T	7: 43,411,795	I431F	probably benign	Het
Thap12	T	A	7: 98,716,137	V504D	possibly damaging	Het
Tlr7	A	C	X: 167,308,475	M5R	possibly damaging	Het
Tubgcp6	A	G	15: 89,100,962	V1641A	probably damaging	Het
Ugt2b1	T	A	5: 86,926,196	L101F	probably benign	Het
Xdh	A	T	17: 73,884,435	*1336R	probably null	Het

Other mutations in Gm6370

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02219:Gm6370	APN	5	146493643	missense	possibly damaging	0.65
R0331:Gm6370	UTSW	5	146493766	missense	probably benign
R2151:Gm6370	UTSW	5	146493641	missense	probably damaging	1.00
R2202:Gm6370	UTSW	5	146493729	missense	probably benign	0.00
R2203:Gm6370	UTSW	5	146493729	missense	probably benign	0.00
R2204:Gm6370	UTSW	5	146493729	missense	probably benign	0.00
R2205:Gm6370	UTSW	5	146493729	missense	probably benign	0.00
R4110:Gm6370	UTSW	5	146493892	missense	probably benign	0.01
R4210:Gm6370	UTSW	5	146493924	missense	possibly damaging	0.61
R4855:Gm6370	UTSW	5	146493811	missense	probably benign	0.00
R4883:Gm6370	UTSW	5	146493926	missense	probably benign	0.08
R5622:Gm6370	UTSW	5	146493898	missense	probably benign	0.44
R6986:Gm6370	UTSW	5	146493588	splice site	probably null
R7216:Gm6370	UTSW	5	146493913	missense	probably benign	0.06
R7519:Gm6370	UTSW	5	146493828	missense	probably damaging	0.96

Posted On

2015-08-05