Mutagenetix > Incidental Mutation

Incidental Mutation 'R5886:Mtg1'

456089

Institutional Source

Beutler Lab

Gene Symbol

Mtg1

Ensembl Gene

ENSMUSG00000039018

Gene Name

mitochondrial ribosome-associated GTPase 1

Synonyms

LOC212508, Gtpbp7

MMRRC Submission

044088-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5886 (G1)

Quality Score

209

Status

Validated

Chromosome

Chromosomal Location

139717477-139730699 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to T at 139729778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000036491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036977] [ENSMUST00000036977] [ENSMUST00000059241]

AlphaFold

Q8R2R6

Predicted Effect

probably null
Transcript: ENSMUST00000036977

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018

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 null
Transcript: ENSMUST00000036977

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018

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: ENSMUST00000059241

SMART Domains

Protein: ENSMUSP00000053901
Gene: ENSMUSG00000045733

Domain	Start	End	E-Value	Type
Pfam:Shadoo	19	147	7.2e-71	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140579

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155723

Predicted Effect

probably benign
Transcript: ENSMUST00000156791

Predicted Effect

probably benign
Transcript: ENSMUST00000211171

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.2%
20x: 91.0%

Validation Efficiency

96% (78/81)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	A	G	11: 69,775,162 (GRCm39)	V367A	probably benign	Het
Adam26b	T	C	8: 43,973,310 (GRCm39)	E564G	possibly damaging	Het
Akap1	A	G	11: 88,725,486 (GRCm39)		probably null	Het
Akap5	T	A	12: 76,374,619 (GRCm39)	V10E	possibly damaging	Het
Atad2	A	T	15: 57,961,910 (GRCm39)	L887*	probably null	Het
Brd10	T	C	19: 29,696,677 (GRCm39)	I939V	probably benign	Het
C1qbp	A	G	11: 70,873,008 (GRCm39)	V122A	probably benign	Het
C1qtnf7	G	A	5: 43,772,998 (GRCm39)	G92D	probably damaging	Het
Cacna1a	T	C	8: 85,249,651 (GRCm39)	I219T	probably damaging	Het
Capn12	A	G	7: 28,587,030 (GRCm39)	N333S	probably benign	Het
Ccdc154	C	T	17: 25,390,792 (GRCm39)	T644I	probably benign	Het
Cd200r1	T	C	16: 44,610,566 (GRCm39)	S225P	possibly damaging	Het
Cntnap5a	T	C	1: 116,499,402 (GRCm39)		probably null	Het
Coq4	A	T	2: 29,680,626 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,324,834 (GRCm39)		probably benign	Het
Cyp4f17	A	T	17: 32,743,013 (GRCm39)	S229C	possibly damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
D930007J09Rik	C	A	13: 32,986,819 (GRCm39)	A200E	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Duoxa1	A	T	2: 122,134,291 (GRCm39)	S276T	possibly damaging	Het
Efcab15	A	G	11: 103,098,947 (GRCm39)		probably null	Het
Efhb	T	C	17: 53,758,582 (GRCm39)	I351M	probably benign	Het
Fat1	G	A	8: 45,480,718 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,486,432 (GRCm39)	T3329S	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm973	T	A	1: 59,597,409 (GRCm39)		probably benign	Het
Gpr156	T	A	16: 37,799,375 (GRCm39)	L124Q	probably damaging	Het
Hars2	T	A	18: 36,923,150 (GRCm39)		probably benign	Het
Hcrt	G	A	11: 100,652,759 (GRCm39)	A85V	probably damaging	Het
Hivep1	A	G	13: 42,310,088 (GRCm39)	D776G	probably damaging	Het
Hmgcr	A	T	13: 96,796,691 (GRCm39)	S200T	probably damaging	Het
Krt40	C	T	11: 99,430,907 (GRCm39)	A201T	probably benign	Het
Lca5	G	A	9: 83,281,734 (GRCm39)	A350V	probably benign	Het
Lrig2	T	A	3: 104,370,014 (GRCm39)	M515L	probably benign	Het
Mbd5	A	G	2: 49,162,464 (GRCm39)	D90G	probably damaging	Het
Mfsd4a	C	T	1: 131,995,465 (GRCm39)	V56I	probably damaging	Het
Mpi	A	G	9: 57,455,745 (GRCm39)		probably benign	Het
Mroh4	G	T	15: 74,478,296 (GRCm39)	D935E	possibly damaging	Het
Nanos1	T	A	19: 60,745,268 (GRCm39)	C189S	probably damaging	Het
Naprt	A	C	15: 75,763,324 (GRCm39)		probably null	Het
Nubpl	T	A	12: 52,228,092 (GRCm39)		probably null	Het
Or10ad1b	T	C	15: 98,124,672 (GRCm39)	T285A	possibly damaging	Het
Or10d4	G	T	9: 39,581,252 (GRCm39)	V300L	probably benign	Het
Or8g23	T	A	9: 38,971,678 (GRCm39)	T95S	probably benign	Het
Or9g20	A	G	2: 85,630,147 (GRCm39)	S156P	probably damaging	Het
Otud4	T	A	8: 80,399,436 (GRCm39)	Y717N	probably damaging	Het
Pakap	T	A	4: 57,856,295 (GRCm39)	D582E	probably damaging	Het
Pnpla1	T	C	17: 29,095,837 (GRCm39)	F86S	possibly damaging	Het
Prlhr	C	T	19: 60,456,014 (GRCm39)	W184*	probably null	Het
Rtp3	A	G	9: 110,816,204 (GRCm39)	S116P	probably damaging	Het
Sema3c	T	C	5: 17,886,984 (GRCm39)	I345T	possibly damaging	Het
Skor2	T	C	18: 76,947,124 (GRCm39)	L282P	unknown	Het
Slc24a4	T	C	12: 102,226,674 (GRCm39)	V468A	probably damaging	Het
Slfn8	C	T	11: 82,894,160 (GRCm39)	M826I	probably benign	Het
Tacc2	A	G	7: 130,330,850 (GRCm39)	D378G	probably benign	Het
Thbs3	C	A	3: 89,127,470 (GRCm39)	D370E	probably damaging	Het
Tk1	CC	GA	11: 117,707,948 (GRCm39)		probably benign	Het
Tm7sf2	A	G	19: 6,116,572 (GRCm39)		probably benign	Het
Trappc8	T	C	18: 21,007,737 (GRCm39)	Y126C	probably damaging	Het
Trim35	C	G	14: 66,541,502 (GRCm39)	L209V	possibly damaging	Het
Trim35	T	C	14: 66,541,503 (GRCm39)	L209P	probably damaging	Het
Trip12	C	T	1: 84,708,179 (GRCm39)		probably benign	Het
Trp53bp1	A	G	2: 121,035,502 (GRCm39)	V1583A	probably damaging	Het
Tuba5-ps	A	G	1: 134,447,937 (GRCm39)		noncoding transcript	Het
Tubgcp6	A	T	15: 88,987,450 (GRCm39)	N1166K	possibly damaging	Het
Usp54	C	T	14: 20,611,910 (GRCm39)	D969N	probably benign	Het
Vldlr	C	A	19: 27,221,171 (GRCm39)	S612R	probably benign	Het
Vps13a	T	C	19: 16,641,926 (GRCm39)	T2234A	probably benign	Het
Vps39	A	G	2: 120,152,053 (GRCm39)		probably benign	Het
Zdhhc3	A	T	9: 122,920,146 (GRCm39)	C120S	probably benign	Het
Zfp37	A	G	4: 62,109,471 (GRCm39)	F531S	probably damaging	Het

Other mutations in Mtg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01739:Mtg1	APN	7	139,730,149 (GRCm39)	missense	probably benign	0.00
IGL02105:Mtg1	APN	7	139,730,119 (GRCm39)	missense	probably damaging	1.00
IGL02458:Mtg1	APN	7	139,730,085 (GRCm39)	missense	probably benign	0.01
IGL02682:Mtg1	APN	7	139,724,642 (GRCm39)	splice site	probably benign
R0666:Mtg1	UTSW	7	139,724,257 (GRCm39)	missense	probably benign
R0893:Mtg1	UTSW	7	139,729,665 (GRCm39)	missense	probably damaging	1.00
R3707:Mtg1	UTSW	7	139,729,717 (GRCm39)	missense	probably damaging	0.99
R4993:Mtg1	UTSW	7	139,720,196 (GRCm39)	missense	probably null	1.00
R5810:Mtg1	UTSW	7	139,725,898 (GRCm39)	splice site	probably null
R5960:Mtg1	UTSW	7	139,726,906 (GRCm39)	unclassified	probably benign
R7069:Mtg1	UTSW	7	139,723,657 (GRCm39)	missense	probably benign	0.00
R7110:Mtg1	UTSW	7	139,726,779 (GRCm39)	missense	probably benign	0.02
R7492:Mtg1	UTSW	7	139,724,610 (GRCm39)	missense	probably damaging	1.00
R7790:Mtg1	UTSW	7	139,729,662 (GRCm39)	missense	probably damaging	1.00
R7917:Mtg1	UTSW	7	139,727,178 (GRCm39)	missense	probably damaging	1.00
R8155:Mtg1	UTSW	7	139,724,622 (GRCm39)	missense	probably benign	0.07
R8444:Mtg1	UTSW	7	139,718,283 (GRCm39)	missense	probably damaging	1.00
R8713:Mtg1	UTSW	7	139,720,136 (GRCm39)	missense	probably benign	0.12
R8713:Mtg1	UTSW	7	139,717,688 (GRCm39)	critical splice donor site	probably null
R9424:Mtg1	UTSW	7	139,727,212 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTGAGTGTGACTCCTTCTCAG -3'
(R):5'- ATCTGATGAGAAAGGGGCCC -3'

Sequencing Primer
(F):5'- ACTCCTTCTCAGGCTCGGAG -3'
(R):5'- ATCTAGGGACCAGGGCATGTTC -3'

Posted On

2017-02-15