Mutagenetix > Incidental Mutations

Incidental Mutation 'R8713:Mtg1'

669710

Institutional Source

Beutler Lab

Gene Symbol

Mtg1

Ensembl Gene

ENSMUSG00000039018

Gene Name

mitochondrial ribosome-associated GTPase 1

Synonyms

Gtpbp7, LOC212508

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140137564-140150786 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 140140223 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 68 (F68L)

Ref Sequence

ENSEMBL: ENSMUSP00000036491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026537] [ENSMUST00000036977] [ENSMUST00000124253]

AlphaFold

Q8R2R6

Predicted Effect

probably benign
Transcript: ENSMUST00000026537

SMART Domains

Protein: ENSMUSP00000026537
Gene: ENSMUSG00000025464

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_8	10	79	4.1e-14	PFAM
Pfam:Amino_oxidase	15	490	4.9e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036977
AA Change: F68L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: F68L

Domain	Start	End	E-Value	Type
SCOP:d1egaa1	31	129	5e-6	SMART
Pfam:FeoB_N	143	219	3.9e-6	PFAM
Pfam:MMR_HSR1	144	283	2.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124253
AA Change: F28L

PolyPhen 2 Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000211171

Coding Region Coverage

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

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 35,873,174	A581V	possibly damaging	Het
Adam18	T	A	8: 24,652,173	M196L	probably benign	Het
Ankrd10	A	G	8: 11,628,491	S134P	probably damaging	Het
Ano8	C	T	8: 71,485,077	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,116,762	V4A	unknown	Het
Cabp4	C	T	19: 4,136,160	M247I	probably benign	Het
Ccdc30	A	T	4: 119,404,207	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,533,863	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,829,863	I1182V	probably benign	Het
Dnah17	T	C	11: 118,088,202	D1788G	probably damaging	Het
Dsp	A	G	13: 38,168,725	D193G	probably damaging	Het
Dym	T	G	18: 75,056,738	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008	Q1340*	probably null	Het
Elmo1	T	C	13: 20,274,621		probably benign	Het
Fbxw15	A	C	9: 109,555,599	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,981,109	G2591R	probably damaging	Het
Gps2	C	A	11: 69,915,354	D148E	probably benign	Het
Iars2	T	C	1: 185,291,418	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,647,638	L58Q	probably benign	Het
Kctd4	A	T	14: 75,962,926	Q112H	probably benign	Het
Letm1	A	G	5: 33,762,505	L230P	probably damaging	Het
Lrch4	G	T	5: 137,639,863	E136*	probably null	Het
Macc1	T	C	12: 119,443,526		probably benign	Het
Macrod1	T	C	19: 7,057,126	L79P	probably benign	Het
Map2	T	A	1: 66,414,622	N890K	probably damaging	Het
Mctp1	G	A	13: 76,641,803	S270N	probably benign	Het
Mrpl44	C	T	1: 79,777,991	R105C	probably damaging	Het
Nfil3	A	G	13: 52,968,011	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,251,322	V332A	possibly damaging	Het
Obscn	T	A	11: 59,135,966	Q137L	probably benign	Het
Pcnx2	T	G	8: 125,818,786	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,817	D117G	possibly damaging	Het
Plce1	T	C	19: 38,524,901	C215R	probably benign	Het
Rrm1	T	G	7: 102,460,351	Y461D	probably damaging	Het
Sbk3	C	T	7: 4,969,992	V60I	possibly damaging	Het
Scube1	G	T	15: 83,610,270	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,343,892	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,311,585	*501Q	probably null	Het
Slc6a19	C	A	13: 73,700,621	V5L	probably benign	Het
Spryd3	A	G	15: 102,133,485	I34T	possibly damaging	Het
Syne1	A	G	10: 5,316,040	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,652,659	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,625,019	S1713P	probably benign	Het
Thap12	C	T	7: 98,707,076	L57F	probably benign	Het
Top1	G	A	2: 160,717,440	V628I	probably damaging	Het
Trim67	A	G	8: 124,820,335	M495V	probably null	Het
Trio	A	C	15: 27,743,951		probably benign	Het
Vmn2r23	A	T	6: 123,703,032	Y71F		Het
Ywhah	A	G	5: 33,027,191	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,799,532	I125T	probably benign	Het

Other mutations in Mtg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Mtg1	APN	7	140150236	missense	probably benign	0.00
IGL02105:Mtg1	APN	7	140150206	missense	probably damaging	1.00
IGL02458:Mtg1	APN	7	140150172	missense	probably benign	0.01
IGL02682:Mtg1	APN	7	140144729	splice site	probably benign
R0666:Mtg1	UTSW	7	140144344	missense	probably benign
R0893:Mtg1	UTSW	7	140149752	missense	probably damaging	1.00
R3707:Mtg1	UTSW	7	140149804	missense	probably damaging	0.99
R4993:Mtg1	UTSW	7	140140283	missense	probably null	1.00
R5810:Mtg1	UTSW	7	140145985	splice site	probably null
R5886:Mtg1	UTSW	7	140149865	splice site	probably null
R5960:Mtg1	UTSW	7	140146993	unclassified	probably benign
R7069:Mtg1	UTSW	7	140143744	missense	probably benign	0.00
R7110:Mtg1	UTSW	7	140146866	missense	probably benign	0.02
R7492:Mtg1	UTSW	7	140144697	missense	probably damaging	1.00
R7790:Mtg1	UTSW	7	140149749	missense	probably damaging	1.00
R7917:Mtg1	UTSW	7	140147265	missense	probably damaging	1.00
R8155:Mtg1	UTSW	7	140144709	missense	probably benign	0.07
R8444:Mtg1	UTSW	7	140138370	missense	probably damaging	1.00
R8713:Mtg1	UTSW	7	140137775	critical splice donor site	probably null
R9424:Mtg1	UTSW	7	140147299	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CTGCTTGAGAAGTTAGGTGACAG -3'
(R):5'- TTTAAGTTACAGCCTCCCCGG -3'

Sequencing Primer
(F):5'- AGAAGTTAGGTGACAGTCCCTTCC -3'
(R):5'- GGGGCATCACAGAACTCCTC -3'

Posted On

2021-04-30