Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01739:Mtg1'

105804

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mtg1

Ensembl Gene

ENSMUSG00000039018

Gene Name

mitochondrial ribosome-associated GTPase 1

Synonyms

LOC212508, Gtpbp7

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01739

Quality Score

Status

Chromosome

Chromosomal Location

139717477-139730699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139730149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 315 (Q315L)

Ref Sequence

ENSEMBL: ENSMUSP00000036491 (fasta)

Gene Model

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

AlphaFold

Q8R2R6

Predicted Effect

probably benign
Transcript: ENSMUST00000036977
AA Change: Q315L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: Q315L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	G	T	7: 43,906,210 (GRCm39)	Y88*	probably null	Het
Aftph	T	C	11: 20,676,994 (GRCm39)	D205G	probably damaging	Het
Arhgap31	T	C	16: 38,423,793 (GRCm39)	I758V	probably benign	Het
Atg9b	A	G	5: 24,591,513 (GRCm39)		probably null	Het
Auts2	T	C	5: 131,469,056 (GRCm39)	T754A	probably benign	Het
Birc6	A	G	17: 74,966,216 (GRCm39)	M4048V	probably benign	Het
Cacna1s	T	C	1: 136,024,870 (GRCm39)		probably null	Het
Cmpk1	C	T	4: 114,822,121 (GRCm39)	A143T	probably benign	Het
Cstf2t	C	A	19: 31,060,536 (GRCm39)	P24Q	probably damaging	Het
Cwc22	A	G	2: 77,757,640 (GRCm39)	S163P	probably damaging	Het
Dnaaf11	T	A	15: 66,321,326 (GRCm39)	M272L	probably benign	Het
Faf1	T	A	4: 109,534,278 (GRCm39)		probably benign	Het
Focad	T	A	4: 88,289,043 (GRCm39)	I1279N	unknown	Het
Gp5	T	C	16: 30,127,459 (GRCm39)	D405G	possibly damaging	Het
Guf1	C	A	5: 69,718,501 (GRCm39)	N213K	probably damaging	Het
Hacd4	T	C	4: 88,341,285 (GRCm39)	T145A	probably damaging	Het
Itga11	T	C	9: 62,681,399 (GRCm39)	M1005T	probably benign	Het
Mast4	T	A	13: 102,910,781 (GRCm39)	T621S	probably damaging	Het
Mme	T	C	3: 63,247,534 (GRCm39)	M273T	possibly damaging	Het
Mos	A	G	4: 3,871,816 (GRCm39)		probably benign	Het
Msln	C	T	17: 25,969,004 (GRCm39)		probably null	Het
Myh1	A	G	11: 67,105,354 (GRCm39)	E1048G	probably damaging	Het
Ndufa9	C	T	6: 126,821,777 (GRCm39)	G66D	probably damaging	Het
Nr1i2	T	C	16: 38,086,333 (GRCm39)	K44R	probably benign	Het
Nup155	T	A	15: 8,165,272 (GRCm39)	M636K	probably benign	Het
Or12d12	A	T	17: 37,610,673 (GRCm39)	F213L	probably benign	Het
Or5b96	T	A	19: 12,867,513 (GRCm39)	T143S	probably benign	Het
Pde4b	A	T	4: 102,458,832 (GRCm39)	Q496L	probably damaging	Het
Plekha6	T	C	1: 133,187,869 (GRCm39)	V130A	probably benign	Het
Prag1	A	G	8: 36,569,834 (GRCm39)	N139S	probably benign	Het
Rbpj-ps3	T	C	6: 46,507,694 (GRCm39)	T19A	probably benign	Het
Scai	A	G	2: 38,984,803 (GRCm39)		probably benign	Het
Slc12a7	A	G	13: 73,947,733 (GRCm39)	T617A	probably benign	Het
Slc15a2	T	C	16: 36,576,592 (GRCm39)	M481V	probably benign	Het
Snx5	A	G	2: 144,112,325 (GRCm39)	L8P	probably benign	Het
Spg11	C	T	2: 121,945,152 (GRCm39)	A123T	probably damaging	Het
Supt6	T	A	11: 78,113,013 (GRCm39)	I977F	probably damaging	Het
Tjp3	T	C	10: 81,114,490 (GRCm39)	D442G	probably benign	Het
Ttc21b	A	T	2: 66,068,200 (GRCm39)	N275K	probably benign	Het
Vmn2r50	A	G	7: 9,771,364 (GRCm39)	F779S	probably damaging	Het
Xirp2	A	T	2: 67,345,482 (GRCm39)	R2574S	probably benign	Het
Zbp1	T	C	2: 173,054,038 (GRCm39)	E161G	possibly damaging	Het

Other mutations in Mtg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2014-01-21