Mutagenetix > Incidental Mutation

Incidental Mutation 'R6811:Meak7'

533809

Institutional Source

Beutler Lab

Gene Symbol

Meak7

Ensembl Gene

ENSMUSG00000034105

Gene Name

MTOR associated protein, eak-7 homolog

Synonyms

4632415K11Rik, Tldc1

MMRRC Submission

045018-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6811 (G1)

Quality Score

202.009

Status

Not validated

Chromosome

Chromosomal Location

120486815-120505155 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 120495029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 243 (I243N)

Ref Sequence

ENSEMBL: ENSMUSP00000044430 (fasta)

Gene Model

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

AlphaFold

Q8K0P3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049156
AA Change: I243N

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000044430
Gene: ENSMUSG00000034105
AA Change: I243N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212534

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.1%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,401,210 (GRCm39)	S69P	probably damaging	Het
Alkbh7	G	T	17: 57,304,392 (GRCm39)	R10L	probably benign	Het
Ano3	T	C	2: 110,711,212 (GRCm39)	E84G	probably benign	Het
Asxl3	A	G	18: 22,655,968 (GRCm39)	E1326G	possibly damaging	Het
Atrnl1	T	G	19: 57,643,393 (GRCm39)	M427R	probably damaging	Het
Cenpf	T	C	1: 189,386,739 (GRCm39)	E1847G	probably benign	Het
Csf1r	T	C	18: 61,252,125 (GRCm39)	Y536H	probably damaging	Het
Dnm3	T	C	1: 162,148,652 (GRCm39)	K240E	probably damaging	Het
Dsc1	T	G	18: 20,222,711 (GRCm39)	E587A	probably benign	Het
Gm19410	C	A	8: 36,239,733 (GRCm39)	A143E	probably damaging	Het
Gm19965	G	T	1: 116,731,809 (GRCm39)	L38F	probably damaging	Het
Helz	T	C	11: 107,510,144 (GRCm39)		probably null	Het
Herc2	C	T	7: 55,763,181 (GRCm39)	R929*	probably null	Het
Iqcn	T	C	8: 71,169,422 (GRCm39)	S1171P	probably benign	Het
Krt31	A	G	11: 99,939,242 (GRCm39)	L225P	probably damaging	Het
Lrp1b	T	C	2: 40,605,512 (GRCm39)		probably null	Het
Lrp1b	A	G	2: 41,339,206 (GRCm39)	V765A	probably benign	Het
Lsm5	A	G	6: 56,679,127 (GRCm39)	I34T	possibly damaging	Het
Ly6g6c	T	C	17: 35,288,386 (GRCm39)	L86P	probably damaging	Het
Megf11	A	G	9: 64,451,923 (GRCm39)	T116A	probably damaging	Het
Megf6	T	C	4: 154,336,618 (GRCm39)	C190R	probably damaging	Het
Mroh9	A	G	1: 162,873,610 (GRCm39)	V515A	possibly damaging	Het
Mtbp	C	A	15: 55,469,942 (GRCm39)		probably null	Het
Myo9b	T	A	8: 71,809,222 (GRCm39)	F1810L	probably damaging	Het
Nacad	T	G	11: 6,549,400 (GRCm39)	K180Q	possibly damaging	Het
Ncf2	G	A	1: 152,711,791 (GRCm39)	V502I	probably benign	Het
Npsr1	T	A	9: 24,046,105 (GRCm39)	C75S	probably benign	Het
Oog3	T	C	4: 143,886,152 (GRCm39)	T149A	probably benign	Het
Pank1	T	A	19: 34,818,422 (GRCm39)	Q39L	probably benign	Het
Pdx1	T	C	5: 147,211,474 (GRCm39)	S232P	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Pirb	A	T	7: 3,722,641 (GRCm39)	V117E	possibly damaging	Het
Ppl	G	A	16: 4,907,008 (GRCm39)	L1096F	probably damaging	Het
Rev3l	T	A	10: 39,706,917 (GRCm39)	Y2223*	probably null	Het
Slc16a4	A	G	3: 107,206,233 (GRCm39)	Y101C	probably benign	Het
Slc17a3	A	T	13: 24,039,924 (GRCm39)	I321F	possibly damaging	Het
Sufu	T	A	19: 46,438,317 (GRCm39)	D168E	probably damaging	Het
Tenm4	G	A	7: 96,202,703 (GRCm39)	R106H	probably benign	Het
Vmn1r237	T	G	17: 21,534,648 (GRCm39)	S124A	probably benign	Het
Vmn2r60	T	A	7: 41,844,310 (GRCm39)	C558S	probably damaging	Het
Vwa5b1	G	A	4: 138,319,414 (GRCm39)	T414I	probably benign	Het
Zbtb47	T	C	9: 121,595,595 (GRCm39)	S573P	probably damaging	Het
Zfp971	T	G	2: 177,675,674 (GRCm39)	C424W	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TTAACTTCCCAAGAGCAGGAGG -3'
(R):5'- ATGGCTACAAGTTCCAGGGC -3'

Sequencing Primer
(F):5'- ACCAAAGACGTAGCCATCCCTG -3'
(R):5'- TACAAGTTCCAGGGCCCTCAG -3'

Posted On

2018-09-12