Mutagenetix > Incidental Mutation

Incidental Mutation 'R8536:Meak7'

659244

Institutional Source

Beutler Lab

Gene Symbol

Meak7

Ensembl Gene

ENSMUSG00000034105

Gene Name

MTOR associated protein, eak-7 homolog

Synonyms

4632415K11Rik, Tldc1

MMRRC Submission

067890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120486815-120505155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120490787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 320 (N320S)

Ref Sequence

ENSEMBL: ENSMUSP00000044430 (fasta)

Gene Model

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

AlphaFold

Q8K0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000049156
AA Change: N320S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: N320S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,217 (GRCm39)	V217M	probably benign	Het
Abca4	A	G	3: 121,973,394 (GRCm39)	Q1074R	probably benign	Het
Ablim1	T	C	19: 57,170,718 (GRCm39)		probably benign	Het
Acox2	A	T	14: 8,256,081 (GRCm38)	D79E	probably benign	Het
Bpifb9b	A	G	2: 154,158,197 (GRCm39)	I440V	probably benign	Het
Ccdc7a	T	A	8: 129,516,601 (GRCm39)	T118S	possibly damaging	Het
Cntln	T	C	4: 84,875,286 (GRCm39)	I240T	probably damaging	Het
Col15a1	T	C	4: 47,208,536 (GRCm39)		probably null	Het
Cox18	A	G	5: 90,362,877 (GRCm39)	F326S	probably damaging	Het
Dnm1l	C	A	16: 16,176,639 (GRCm39)	V31L	probably benign	Het
Dst	C	A	1: 34,236,327 (GRCm39)	L3578M	possibly damaging	Het
Fbxw24	G	A	9: 109,452,599 (GRCm39)	T132I	probably damaging	Het
Fchsd1	A	G	18: 38,100,823 (GRCm39)	V120A	probably benign	Het
Fibcd1	T	C	2: 31,706,643 (GRCm39)	E396G	probably damaging	Het
Fryl	G	T	5: 73,257,696 (GRCm39)	T702K	probably damaging	Het
Gatb	A	T	3: 85,511,868 (GRCm39)	I208F	probably damaging	Het
Gzmd	T	C	14: 56,367,158 (GRCm39)	I245V	probably damaging	Het
Lats2	G	A	14: 57,940,495 (GRCm39)	A119V	probably damaging	Het
Lztfl1	A	T	9: 123,540,119 (GRCm39)	F129L	probably benign	Het
Mmp2	A	T	8: 93,557,253 (GRCm39)	Y53F	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Ndufa8	A	C	2: 35,939,312 (GRCm39)		probably benign	Het
Nek11	A	T	9: 105,175,538 (GRCm39)	M302K	probably benign	Het
Nek6	A	G	2: 38,404,797 (GRCm39)		probably null	Het
Numa1	C	T	7: 101,650,787 (GRCm39)	A1506V	probably damaging	Het
Plxdc1	A	T	11: 97,869,522 (GRCm39)		probably null	Het
Poteg	C	A	8: 27,938,048 (GRCm39)	T6K	probably benign	Het
Rbm26	A	T	14: 105,380,274 (GRCm39)	N514K	possibly damaging	Het
Rnf145	T	C	11: 44,450,942 (GRCm39)	L422P	probably damaging	Het
Scn5a	G	T	9: 119,368,811 (GRCm39)	T238K	probably damaging	Het
Shd	G	A	17: 56,283,315 (GRCm39)	A315T	probably damaging	Het
Sirpd	A	G	3: 15,361,614 (GRCm39)	*179R	probably null	Het
Slco5a1	T	G	1: 12,951,525 (GRCm39)	T593P	possibly damaging	Het
Stard9	G	A	2: 120,545,140 (GRCm39)	R4560H	possibly damaging	Het
Traf3ip3	C	T	1: 192,876,823 (GRCm39)		probably null	Het
Trpm1	G	C	7: 63,897,155 (GRCm39)	K252N	probably damaging	Het
Ttc7b	A	T	12: 100,339,803 (GRCm39)	I584K	possibly damaging	Het
Vmn1r218	T	C	13: 23,321,535 (GRCm39)	V214A	probably benign	Het
Wdfy3	G	T	5: 102,033,064 (GRCm39)	H2215Q	probably benign	Het
Wls	G	A	3: 159,578,748 (GRCm39)	M103I	probably damaging	Het
Zmat4	T	C	8: 24,238,523 (GRCm39)		probably null	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	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
IGL00886:Meak7	APN	8	120,500,007 (GRCm39)	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GAAGATGTGCCCTGCTACTG -3'
(R):5'- CCAGTCACTGCCATTGTGTC -3'

Sequencing Primer
(F):5'- GTGCCCTGCTACTGGCTCTC -3'
(R):5'- CATCTGAGTTCCCAGACATCCGTAAG -3'

Posted On

2021-01-18