Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00886:Meak7'

27973

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Meak7

Ensembl Gene

ENSMUSG00000034105

Gene Name

MTOR associated protein, eak-7 homolog

Synonyms

4632415K11Rik, Tldc1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00886

Quality Score

Status

Chromosome

Chromosomal Location

120486815-120505155 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 120500007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148691 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049156] [ENSMUST00000212534]

AlphaFold

Q8K0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000049156

SMART Domains

Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105

Domain	Start	End	E-Value	Type
TLDc	241	410	4.36e-69	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212501

Predicted Effect

probably benign
Transcript: ENSMUST00000212534

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,054,101 (GRCm39)	R67H	possibly damaging	Het
Ak4	G	T	4: 101,304,386 (GRCm39)	E59*	probably null	Het
Ano10	T	C	9: 122,100,390 (GRCm39)	N116S	probably benign	Het
Arid1b	T	A	17: 5,177,254 (GRCm39)	H658Q	probably damaging	Het
Atf2	G	A	2: 73,675,847 (GRCm39)	T208I	possibly damaging	Het
Bco1	T	C	8: 117,857,376 (GRCm39)	W448R	probably damaging	Het
Cel	A	T	2: 28,449,397 (GRCm39)	C277S	probably damaging	Het
Chd5	T	A	4: 152,444,156 (GRCm39)	D296E	probably benign	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Fmo9	T	C	1: 166,507,714 (GRCm39)		probably null	Het
Gdpgp1	T	G	7: 79,889,100 (GRCm39)	L377R	probably damaging	Het
Gm26938	T	A	5: 139,812,091 (GRCm39)	D3V	probably damaging	Het
Gpld1	T	A	13: 25,146,336 (GRCm39)	Y193*	probably null	Het
Gtf2h4	T	C	17: 35,980,874 (GRCm39)	H265R	probably damaging	Het
Hadh	G	T	3: 131,043,465 (GRCm39)	T83K	probably benign	Het
Hao1	T	C	2: 134,365,079 (GRCm39)	M183V	probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Ift88	T	C	14: 57,715,525 (GRCm39)	Y523H	probably damaging	Het
Il23r	G	T	6: 67,450,874 (GRCm39)	Q202K	possibly damaging	Het
Iyd	T	C	10: 3,540,444 (GRCm38)	D50A	probably benign	Het
Katnal2	A	T	18: 77,090,450 (GRCm39)	L248Q	probably damaging	Het
Krtap26-1	A	T	16: 88,444,267 (GRCm39)	V118E	possibly damaging	Het
Lzic	T	C	4: 149,577,753 (GRCm39)		probably null	Het
Mical2	T	A	7: 111,914,279 (GRCm39)	N316K	probably benign	Het
Ndufc2	T	A	7: 97,049,397 (GRCm39)	M1K	probably null	Het
Net1	A	G	13: 3,943,391 (GRCm39)		probably benign	Het
Or13g1	G	A	7: 85,956,259 (GRCm39)	L21F	probably damaging	Het
Pde1c	A	G	6: 56,150,659 (GRCm39)	Y287H	probably damaging	Het
Pitpnm1	T	C	19: 4,160,665 (GRCm39)		probably null	Het
Pla2r1	T	A	2: 60,254,668 (GRCm39)	E1300V	probably damaging	Het
Polr3g	T	C	13: 81,842,796 (GRCm39)	Y73C	probably damaging	Het
Ryr1	T	A	7: 28,723,654 (GRCm39)	E4137V	probably damaging	Het
Scrib	T	C	15: 75,920,643 (GRCm39)	D1425G	possibly damaging	Het
Slc25a12	A	G	2: 71,174,376 (GRCm39)	Y23H	possibly damaging	Het
Spef2	C	A	15: 9,663,181 (GRCm39)	G867W	probably damaging	Het
Strn3	A	T	12: 51,656,933 (GRCm39)	Y698N	probably damaging	Het
Ube3a	T	A	7: 58,934,485 (GRCm39)	F533I	probably damaging	Het

Other mutations in Meak7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Meak7	APN	8	120,499,334 (GRCm39)	missense	probably benign	0.01
IGL02679:Meak7	APN	8	120,499,149 (GRCm39)	missense	probably benign	0.00
IGL02896:Meak7	APN	8	120,489,164 (GRCm39)	missense	probably damaging	1.00
R0126:Meak7	UTSW	8	120,489,089 (GRCm39)	missense	possibly damaging	0.93
R0456:Meak7	UTSW	8	120,495,162 (GRCm39)	missense	probably damaging	0.96
R1831:Meak7	UTSW	8	120,497,992 (GRCm39)	missense	probably null	0.00
R2919:Meak7	UTSW	8	120,495,056 (GRCm39)	missense	probably benign
R3114:Meak7	UTSW	8	120,495,056 (GRCm39)	missense	probably benign
R3116:Meak7	UTSW	8	120,495,056 (GRCm39)	missense	probably benign
R4763:Meak7	UTSW	8	120,495,122 (GRCm39)	missense	probably benign	0.09
R4796:Meak7	UTSW	8	120,495,093 (GRCm39)	missense	probably benign	0.13
R4858:Meak7	UTSW	8	120,499,262 (GRCm39)	missense	probably benign	0.17
R4976:Meak7	UTSW	8	120,494,882 (GRCm39)	missense	probably damaging	0.97
R5119:Meak7	UTSW	8	120,494,882 (GRCm39)	missense	probably damaging	0.97
R5393:Meak7	UTSW	8	120,499,157 (GRCm39)	missense	probably benign	0.13
R6811:Meak7	UTSW	8	120,495,029 (GRCm39)	missense	possibly damaging	0.95
R6828:Meak7	UTSW	8	120,499,306 (GRCm39)	missense	possibly damaging	0.51
R7237:Meak7	UTSW	8	120,489,054 (GRCm39)	missense	probably damaging	1.00
R8536:Meak7	UTSW	8	120,490,787 (GRCm39)	missense	probably benign	0.01
R9047:Meak7	UTSW	8	120,489,050 (GRCm39)	missense	probably benign	0.00
R9375:Meak7	UTSW	8	120,498,096 (GRCm39)	missense	probably benign
R9414:Meak7	UTSW	8	120,495,081 (GRCm39)	missense	probably benign	0.01
R9668:Meak7	UTSW	8	120,488,514 (GRCm39)	missense	probably damaging	1.00
R9731:Meak7	UTSW	8	120,498,010 (GRCm39)	missense	probably benign	0.16

Posted On

2013-04-17