Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02105:Mtg1'

279943

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 #

IGL02105

Quality Score

Status

Chromosome

Chromosomal Location

139717477-139730699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139730119 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 305 (L305P)

Ref Sequence

ENSEMBL: ENSMUSP00000036491 (fasta)

Gene Model

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

AlphaFold

Q8R2R6

Predicted Effect

probably damaging
Transcript: ENSMUST00000036977
AA Change: L305P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000036491
Gene: ENSMUSG00000039018
AA Change: L305P

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl4	G	T	3: 95,587,374 (GRCm39)	P734H	probably damaging	Het
Arfip2	A	T	7: 105,288,590 (GRCm39)	I14N	probably damaging	Het
Asap3	G	T	4: 135,955,785 (GRCm39)		probably null	Het
Atg2a	T	A	19: 6,300,433 (GRCm39)		probably benign	Het
Bbs12	T	C	3: 37,374,296 (GRCm39)	L248P	probably damaging	Het
Brd3	A	T	2: 27,349,788 (GRCm39)	I255N	probably damaging	Het
Ccdc141	A	G	2: 76,879,921 (GRCm39)		probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd9	T	A	8: 91,659,116 (GRCm39)	D25E	probably damaging	Het
Cobl	T	C	11: 12,199,651 (GRCm39)	K1325R	probably damaging	Het
Dnmt1	T	A	9: 20,819,178 (GRCm39)	E1486V	unknown	Het
Dock2	T	C	11: 34,605,352 (GRCm39)	N256D	probably damaging	Het
Dpp3	G	A	19: 4,966,799 (GRCm39)	S408L	probably damaging	Het
Dync2h1	C	T	9: 7,075,892 (GRCm39)	G2992R	probably damaging	Het
Eef1a1	T	C	9: 78,387,833 (GRCm39)	D35G	probably benign	Het
Fntb	A	G	12: 76,909,263 (GRCm39)	K84E	probably benign	Het
Gfi1	A	G	5: 107,871,588 (GRCm39)		probably null	Het
Glb1l3	T	A	9: 26,729,823 (GRCm39)	I516F	probably damaging	Het
Hltf	A	G	3: 20,146,921 (GRCm39)	N560S	probably damaging	Het
Kif21b	A	G	1: 136,099,041 (GRCm39)	N1443S	probably benign	Het
Knl1	T	A	2: 118,902,289 (GRCm39)	I1330K	probably benign	Het
Krt20	C	T	11: 99,328,827 (GRCm39)	V33M	probably benign	Het
Lao1	A	G	4: 118,825,640 (GRCm39)	T487A	probably damaging	Het
Larp4	A	G	15: 99,883,952 (GRCm39)	E63G	probably damaging	Het
Lrp1	A	G	10: 127,380,448 (GRCm39)	V3901A	probably damaging	Het
Lrrc17	A	G	5: 21,775,255 (GRCm39)	I272M	probably benign	Het
Malrd1	A	T	2: 16,132,674 (GRCm39)	Q1865L	unknown	Het
Mylk4	T	A	13: 32,904,545 (GRCm39)	E427D	probably benign	Het
Myom1	G	T	17: 71,354,711 (GRCm39)		probably benign	Het
Nbeal1	A	G	1: 60,292,660 (GRCm39)	E1104G	probably damaging	Het
Obox5	A	G	7: 15,492,500 (GRCm39)	M152V	probably benign	Het
Olfm2	C	T	9: 20,583,476 (GRCm39)	V203M	probably damaging	Het
Or2l13	T	G	16: 19,306,011 (GRCm39)	L141R	probably benign	Het
Or8b12c	A	T	9: 37,715,891 (GRCm39)	H228L	possibly damaging	Het
Pf4	A	G	5: 90,921,114 (GRCm39)	S105G	probably damaging	Het
Phlpp2	T	A	8: 110,631,040 (GRCm39)	I228N	probably damaging	Het
Sall1	T	G	8: 89,759,196 (GRCm39)	S303R	probably damaging	Het
Setd5	A	G	6: 113,094,541 (GRCm39)	E486G	probably damaging	Het
Slc9a5	C	T	8: 106,076,075 (GRCm39)	P23S	probably damaging	Het
Tbc1d9b	T	A	11: 50,040,653 (GRCm39)	I390N	probably damaging	Het
Trp53	T	C	11: 69,479,329 (GRCm39)	V169A	probably damaging	Het
Usp4	A	G	9: 108,262,131 (GRCm39)	D791G	probably damaging	Het
Vmn1r76	A	G	7: 11,664,417 (GRCm39)	S266P	possibly damaging	Het
Vmn2r27	A	G	6: 124,174,308 (GRCm39)		probably benign	Het
Xirp1	C	T	9: 119,846,063 (GRCm39)	G940E	probably damaging	Het
Zfp407	A	T	18: 84,580,845 (GRCm39)	C89*	probably null	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
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

2015-04-16