Mutagenetix > Incidental Mutation

Incidental Mutation 'R1289:Gm9956'

150737

Institutional Source

Beutler Lab

Gene Symbol

Gm9956

Ensembl Gene

ENSMUSG00000054758

Gene Name

predicted gene 9956

Synonyms

MMRRC Submission

039355-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56621230-56624350 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56621676 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 113 (S113T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000067972
AA Change: S113T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071080
Gene: ENSMUSG00000054758
AA Change: S113T

Domain	Start	End	E-Value	Type
transmembrane domain	94	116	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,756 (GRCm39)	Y367*	probably null	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arap3	T	C	18: 38,115,026 (GRCm39)	R997G	possibly damaging	Het
Brd10	T	C	19: 29,700,852 (GRCm39)	I745M	probably benign	Het
Col22a1	T	G	15: 71,709,226 (GRCm39)	K655T	unknown	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Glcci1	G	A	6: 8,593,088 (GRCm39)	V298I	possibly damaging	Het
Gm14401	T	C	2: 176,778,789 (GRCm39)	Y292H	possibly damaging	Het
Gpr75	T	C	11: 30,842,706 (GRCm39)	I537T	probably benign	Het
Hars2	T	G	18: 36,916,465 (GRCm39)		probably null	Het
Helq	A	G	5: 100,944,330 (GRCm39)	V260A	probably damaging	Het
Ift172	A	C	5: 31,438,320 (GRCm39)	F46V	probably damaging	Het
Klk1b9	A	T	7: 43,627,848 (GRCm39)	I49L	probably benign	Het
Lrrk2	T	G	15: 91,696,563 (GRCm39)	N2450K	probably benign	Het
Mtor	T	C	4: 148,554,764 (GRCm39)	V867A	probably benign	Het
Nlgn1	G	T	3: 25,488,400 (GRCm39)	T645K	possibly damaging	Het
Nphs1	T	C	7: 30,170,603 (GRCm39)	L931P	probably damaging	Het
Phf19	T	C	2: 34,786,042 (GRCm39)	T476A	probably benign	Het
Rnf169	T	C	7: 99,574,943 (GRCm39)	I551V	probably benign	Het
Ryr3	T	A	2: 112,475,630 (GRCm39)	E4472V	probably damaging	Het
Tek	T	G	4: 94,693,067 (GRCm39)	F209V	probably damaging	Het
Vmn1r234	CTT	CTTT	17: 21,449,513 (GRCm39)		probably null	Het

Other mutations in Gm9956

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL01702:Gm9956	APN	10	56,621,335 (GRCm39)	start gained
IGL02411:Gm9956	APN	10	56,621,388 (GRCm39)	missense	unknown
IGL02898:Gm9956	APN	10	56,621,350 (GRCm39)	missense	unknown
R0513:Gm9956	UTSW	10	56,621,291 (GRCm39)	start gained
R0731:Gm9956	UTSW	10	56,621,639 (GRCm39)	nonsense	probably null
R0841:Gm9956	UTSW	10	56,621,425 (GRCm39)	missense	unknown
R0841:Gm9956	UTSW	10	56,621,424 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CAGTCATACCACAGTGCCCCTTTAC -3'
(R):5'- AAACACCTCAGCTTGGGAACTATCATC -3'

Sequencing Primer
(F):5'- GTAGTGCATAGAAGGTCCTCACTC -3'
(R):5'- GCGATAGTTCCATTGGATACAC -3'

Posted On

2014-01-29