Mutagenetix > Incidental Mutations

Incidental Mutation 'R0068:AC104834.1'

18020

Institutional Source

Beutler Lab

Gene Symbol

AC104834.1

Ensembl Gene

ENSMUSG00000095440

Gene Name

Synonyms

MMRRC Submission

038359-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R0068 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

(GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 101054248 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 51 (I51N)

Ref Sequence

ENSEMBL: ENSMUSP00000150618 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178140] [ENSMUST00000213610]

Predicted Effect

probably damaging
Transcript: ENSMUST00000178140
AA Change: I51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137256
Gene: ENSMUSG00000095440
AA Change: I51N

Domain	Start	End	E-Value	Type
low complexity region	94	105	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
low complexity region	152	201	N/A	INTRINSIC
low complexity region	203	255	N/A	INTRINSIC
low complexity region	267	296	N/A	INTRINSIC
low complexity region	310	329	N/A	INTRINSIC
low complexity region	394	412	N/A	INTRINSIC
AAA	419	550	3.31e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000213610
AA Change: I51N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Meta Mutation Damage Score

0.1262

Coding Region Coverage

1x: 89.9%
3x: 97.6%
10x: 82.1%
20x: 74.0%

Validation Efficiency

94% (83/88)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,952,221	T1675A	probably benign	Het
Abca9	T	C	11: 110,145,579	N568S	probably damaging	Het
Aldoart2	G	T	12: 55,565,448	E53*	probably null	Het
Ankra2	C	T	13: 98,273,383	Q137*	probably null	Het
Arpc1a	C	T	5: 145,091,244	T21I	possibly damaging	Het
Arvcf	T	C	16: 18,396,954		probably benign	Het
Ash1l	C	A	3: 89,007,317	S1751R	probably benign	Het
Bsn	C	A	9: 108,112,137	G2139C	probably damaging	Het
Cbl	A	T	9: 44,154,194	S22T	probably damaging	Het
Ccdc148	T	C	2: 58,827,617	E530G	probably benign	Het
Cct3	A	G	3: 88,318,465	D365G	probably benign	Het
Cep85	A	T	4: 134,154,295	H332Q	probably benign	Het
Cwf19l1	A	T	19: 44,131,499	Y68N	probably damaging	Het
Dlc1	T	A	8: 36,937,721	M305L	probably benign	Het
Dnm1l	C	A	16: 16,324,019	G288C	probably damaging	Het
Exoc7	T	C	11: 116,304,906	Y83C	probably damaging	Het
Flnb	A	G	14: 7,915,290	N1474D	possibly damaging	Het
Ghrhr	C	T	6: 55,380,864		probably benign	Het
Gucy1b1	T	C	3: 82,034,878	T525A	probably benign	Het
Hhip	T	G	8: 79,989,256	D557A	probably damaging	Het
Hps5	A	G	7: 46,777,042		probably benign	Het
Igsf10	A	T	3: 59,330,624	V712D	probably damaging	Het
Irf6	G	T	1: 193,165,759		probably benign	Het
Itpr3	T	C	17: 27,104,060		probably benign	Het
Jag2	A	G	12: 112,915,193		probably benign	Het
Kansl1l	A	G	1: 66,720,888	V911A	probably benign	Het
Kdm3b	C	T	18: 34,824,774	T1064I	probably benign	Het
Lrriq1	T	A	10: 103,063,418	Q1654L	probably benign	Het
Ltbp1	A	G	17: 75,359,409	T1366A	probably damaging	Het
Mroh1	A	G	15: 76,446,692		probably benign	Het
Napb	G	A	2: 148,698,923		probably benign	Het
Nebl	T	A	2: 17,434,971	R164*	probably null	Het
Npc1	G	C	18: 12,208,367	P532A	probably benign	Het
Nrp2	G	T	1: 62,745,377	K228N	possibly damaging	Het
Olfr275	T	A	4: 52,825,503	Y35*	probably null	Het
Plekhg1	A	T	10: 3,940,502	Y386F	probably damaging	Het
Pmfbp1	G	C	8: 109,542,379		probably benign	Het
Poln	T	C	5: 34,077,088		probably benign	Het
Polr1c	A	G	17: 46,244,903	V200A	probably benign	Het
Ppil1	A	T	17: 29,252,256	F92I	probably damaging	Het
Ptchd3	T	G	11: 121,842,972	L896R	probably damaging	Het
Rev3l	A	G	10: 39,824,831	N1775D	possibly damaging	Het
Robo4	G	A	9: 37,404,477	R342Q	probably benign	Het
Rusc2	T	C	4: 43,424,100		probably benign	Het
S100pbp	T	C	4: 129,144,456		probably benign	Het
Slc25a48	T	C	13: 56,451,211	V118A	probably damaging	Het
Slc38a10	T	C	11: 120,134,853	D219G	probably damaging	Het
Slc38a2	C	T	15: 96,691,292		probably null	Het
Slc39a12	A	G	2: 14,435,678	E480G	probably benign	Het
Tab2	C	A	10: 7,919,677	R347L	probably damaging	Het
Tas2r123	T	C	6: 132,847,992	I284T	possibly damaging	Het
Tex9	A	G	9: 72,486,769		probably benign	Het
Tifab	A	G	13: 56,176,405	L75P	probably damaging	Het
Tmc5	T	A	7: 118,634,237	D91E	probably benign	Het
Tnks1bp1	T	A	2: 85,062,352	D212E	probably benign	Het
Ugcg	A	G	4: 59,217,130	D218G	probably benign	Het
Zfp451	A	T	1: 33,777,625	L198I	probably damaging	Het

Posted On

2013-03-25