Mutagenetix > Incidental Mutation

Incidental Mutation 'R7069:Mtg1'

548754

Institutional Source

Beutler Lab

Gene Symbol

Mtg1

Ensembl Gene

ENSMUSG00000039018

Gene Name

mitochondrial ribosome-associated GTPase 1

Synonyms

LOC212508, Gtpbp7

MMRRC Submission

045165-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7069 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

139717477-139730699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139723657 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 96 (V96I)

Ref Sequence

ENSEMBL: ENSMUSP00000036491 (fasta)

Gene Model

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

AlphaFold

Q8R2R6

Predicted Effect

probably benign
Transcript: ENSMUST00000036977
AA Change: V96I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: V96I

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,024,203 (GRCm39)	I991L	probably benign	Het
Abtb3	C	A	10: 85,223,520 (GRCm39)	R110S	unknown	Het
Actg2	C	A	6: 83,497,745 (GRCm39)	G96V	probably damaging	Het
Adh5	T	A	3: 138,156,812 (GRCm39)	L166*	probably null	Het
Akap13	A	G	7: 75,260,010 (GRCm39)	D75G	probably benign	Het
Ank2	T	C	3: 126,739,947 (GRCm39)		probably benign	Het
Arfgap1	T	A	2: 180,615,913 (GRCm39)	D197E	probably benign	Het
Aste1	T	C	9: 105,273,906 (GRCm39)		probably null	Het
Atp8b2	T	A	3: 89,861,878 (GRCm39)	N78I	probably damaging	Het
Cacna2d3	T	A	14: 28,691,260 (GRCm39)		probably benign	Het
Chrd	T	A	16: 20,558,183 (GRCm39)	W809R	probably damaging	Het
Col2a1	C	T	15: 97,896,469 (GRCm39)	G60D	unknown	Het
Coro7	T	A	16: 4,497,475 (GRCm39)	M1L	probably damaging	Het
Cracdl	A	T	1: 37,670,982 (GRCm39)	F97Y	probably damaging	Het
Dhx40	T	C	11: 86,688,569 (GRCm39)	I285V	probably benign	Het
Dop1a	T	C	9: 86,432,222 (GRCm39)		probably null	Het
Enox1	A	T	14: 77,848,764 (GRCm39)	R358S	probably damaging	Het
Ep400	A	G	5: 110,815,990 (GRCm39)	V2724A	probably damaging	Het
Fam221a	A	C	6: 49,355,432 (GRCm39)	Q178P	probably damaging	Het
Fcho1	A	C	8: 72,163,141 (GRCm39)		probably null	Het
Fndc1	A	T	17: 7,988,567 (GRCm39)	V1165D	unknown	Het
Gal3st2b	A	T	1: 93,868,341 (GRCm39)	N189Y	possibly damaging	Het
Ghr	T	A	15: 3,349,966 (GRCm39)	D404V	probably damaging	Het
Glis3	A	T	19: 28,508,919 (GRCm39)	V355D	probably damaging	Het
Gpr12	A	C	5: 146,520,349 (GRCm39)	V32G	possibly damaging	Het
Gspt1	T	A	16: 11,040,525 (GRCm39)	L593F	probably damaging	Het
H2-Q7	A	T	17: 35,659,007 (GRCm39)	T153S	probably damaging	Het
Hars2	A	G	18: 36,921,009 (GRCm39)	I194V	probably damaging	Het
Hdac9	T	A	12: 34,479,548 (GRCm39)	T202S	possibly damaging	Het
Hoxd13	T	C	2: 74,499,368 (GRCm39)	Y239H	probably damaging	Het
Insm2	C	T	12: 55,646,621 (GRCm39)	Q122*	probably null	Het
Insyn2b	T	A	11: 34,352,677 (GRCm39)	C240S	possibly damaging	Het
Ip6k1	T	A	9: 107,922,651 (GRCm39)		probably null	Het
Ippk	T	C	13: 49,615,219 (GRCm39)	V534A	probably damaging	Het
Itch	T	G	2: 155,051,914 (GRCm39)	F611C	probably damaging	Het
Itga1	A	T	13: 115,104,776 (GRCm39)	N1083K	probably damaging	Het
Itgae	A	C	11: 73,006,969 (GRCm39)	D405A	probably damaging	Het
Kif18a	T	C	2: 109,125,347 (GRCm39)	S255P	probably damaging	Het
Klhl24	C	G	16: 19,926,231 (GRCm39)	T253R	probably benign	Het
Krt81	T	A	15: 101,358,609 (GRCm39)	T307S	possibly damaging	Het
Lbr	A	T	1: 181,656,354 (GRCm39)	W265R	probably damaging	Het
Lgals3bp	T	C	11: 118,283,999 (GRCm39)	T527A	probably benign	Het
Lzts1	A	C	8: 69,593,397 (GRCm39)	V70G	probably damaging	Het
Map3k6	C	T	4: 132,979,023 (GRCm39)	P1154S	probably benign	Het
Masp1	T	C	16: 23,271,205 (GRCm39)	D681G	probably benign	Het
Mdga2	T	C	12: 66,533,526 (GRCm39)	N948D	probably benign	Het
Mettl4	A	T	17: 95,041,061 (GRCm39)	F364L	probably damaging	Het
Mosmo	T	C	7: 120,277,055 (GRCm39)	I23T	probably benign	Het
Myh11	T	A	16: 14,036,803 (GRCm39)	R966S	possibly damaging	Het
Ncapg2	A	G	12: 116,388,337 (GRCm39)		probably null	Het
Nid1	G	A	13: 13,683,353 (GRCm39)	V1144I	probably benign	Het
Or4a77	T	C	2: 89,486,910 (GRCm39)	I292V	probably benign	Het
Or52a33	A	T	7: 103,289,167 (GRCm39)	M60K	probably damaging	Het
Or55b4	C	A	7: 102,133,979 (GRCm39)	C116F	possibly damaging	Het
Oscar	T	G	7: 3,614,238 (GRCm39)	Y167S	probably damaging	Het
Pa2g4	T	C	10: 128,396,559 (GRCm39)	T200A	probably benign	Het
Pcdh7	A	G	5: 57,877,126 (GRCm39)	D227G	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Plce1	G	A	19: 38,747,384 (GRCm39)	G1702R	probably damaging	Het
Plxna2	C	A	1: 194,476,212 (GRCm39)	T1144K	possibly damaging	Het
Prl8a8	G	A	13: 27,695,450 (GRCm39)	T99I	probably benign	Het
Prr29	C	A	11: 106,267,085 (GRCm39)	H83Q	probably damaging	Het
Raly	T	A	2: 154,701,664 (GRCm39)	I108N	possibly damaging	Het
Ranbp9	A	T	13: 43,573,098 (GRCm39)	S475R	probably benign	Het
Rogdi	C	A	16: 4,831,362 (GRCm39)		probably benign	Het
Rorc	C	T	3: 94,280,214 (GRCm39)	Q6*	probably null	Het
Sacs	T	C	14: 61,449,945 (GRCm39)	L3997S	probably damaging	Het
Scn2a	A	T	2: 65,594,950 (GRCm39)	Y1933F	probably benign	Het
Sik3	T	C	9: 46,122,041 (GRCm39)	L898P	probably damaging	Het
Sipa1l1	A	G	12: 82,388,180 (GRCm39)	I135M	probably damaging	Het
Slc26a3	C	A	12: 31,500,934 (GRCm39)	Q224K	probably damaging	Het
Sobp	G	T	10: 42,897,436 (GRCm39)	N716K	probably benign	Het
Spata16	A	G	3: 26,981,483 (GRCm39)	D513G	probably damaging	Het
Spata31h1	G	A	10: 82,125,777 (GRCm39)	T2411I	probably damaging	Het
Speer4a3	A	T	5: 26,154,842 (GRCm39)	S253T	possibly damaging	Het
Stac	T	C	9: 111,401,394 (GRCm39)	R351G	possibly damaging	Het
Tecta	T	A	9: 42,306,237 (GRCm39)	T64S	probably benign	Het
Tert	G	A	13: 73,776,529 (GRCm39)	V427M	probably damaging	Het
Tex15	G	A	8: 34,060,748 (GRCm39)	M333I	probably benign	Het
Tmbim4	A	T	10: 120,056,664 (GRCm39)	Q72L	probably benign	Het
Trav9n-4	T	C	14: 53,532,256 (GRCm39)	S37P	probably benign	Het
Trpv5	A	T	6: 41,652,894 (GRCm39)	M93K	possibly damaging	Het
Ulk4	T	C	9: 121,087,876 (GRCm39)	E272G	probably benign	Het
Ulk4	T	C	9: 121,095,583 (GRCm39)	T79A	probably benign	Het
Upb1	A	G	10: 75,248,602 (GRCm39)	N41D	probably benign	Het
Wls	A	T	3: 159,639,965 (GRCm39)	Y532F	probably damaging	Het
Zdhhc5	G	A	2: 84,545,355 (GRCm39)		probably benign	Het
Zfp109	T	C	7: 23,928,785 (GRCm39)	D216G	probably benign	Het
Zfp473	G	A	7: 44,381,798 (GRCm39)	A845V	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
R5886:Mtg1	UTSW	7	139,729,778 (GRCm39)	splice site	probably null
R5960:Mtg1	UTSW	7	139,726,906 (GRCm39)	unclassified	probably benign
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'- AACTGCTGAGCCATCTCTCC -3'
(R):5'- CAACACTCCCTCAGACTGTG -3'

Sequencing Primer
(F):5'- GCCCTGATCTCCTGACCCG -3'
(R):5'- AGGAGACAGGCAGCATCC -3'

Posted On

2019-05-13