Mutagenetix > Incidental Mutations

Incidental Mutation 'R0010:Gm10320'

7991

Institutional Source

Beutler Lab

Gene Symbol

Gm10320

Ensembl Gene

ENSMUSG00000092116

Gene Name

predicted pseudogene 10320

Synonyms

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.706) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98489348-98492001 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98489546 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 110 (Y110C)

Ref Sequence

ENSEMBL: ENSMUSP00000126887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170205]

Predicted Effect

probably damaging
Transcript: ENSMUST00000170205
AA Change: Y110C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126887
Gene: ENSMUSG00000092116
AA Change: Y110C

Domain	Start	End	E-Value	Type
Pfam:Sec61_beta	69	107	1.9e-22	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
BC037034	T	C	5: 138,260,293		probably null	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in Gm10320

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01820:Gm10320	APN	13	98489537	nonsense	probably null
R0010:Gm10320	UTSW	13	98489546	missense	probably damaging	1.00
R0197:Gm10320	UTSW	13	98491983	missense	probably benign
R1829:Gm10320	UTSW	13	98489699	missense	probably damaging	0.97
R4534:Gm10320	UTSW	13	98489808	missense	probably benign
R7622:Gm10320	UTSW	13	98489724	nonsense	probably null

Posted On

2012-11-20