Mutagenetix > Incidental Mutation

Incidental Mutation 'R1168:Mtif2'

101351

Institutional Source

Beutler Lab

Gene Symbol

Mtif2

Ensembl Gene

ENSMUSG00000020459

Gene Name

mitochondrial translational initiation factor 2

Synonyms

2310038D14Rik, IF-2mt, 2410112O06Rik

MMRRC Submission

039241-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R1168 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29476408-29495279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29486914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 308 (D308G)

Ref Sequence

ENSEMBL: ENSMUSP00000090926 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020749] [ENSMUST00000093239] [ENSMUST00000133452] [ENSMUST00000136351] [ENSMUST00000144321]

AlphaFold

Q91YJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000020749
AA Change: D308G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: D308G

Domain	Start	End	E-Value	Type
Pfam:SRPRB	178	310	2.1e-6	PFAM
Pfam:GTP_EFTU	179	344	8.9e-34	PFAM
Pfam:MMR_HSR1	182	289	6.9e-10	PFAM
coiled coil region	449	484	N/A	INTRINSIC
Pfam:IF-2	504	607	6.5e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093239
AA Change: D308G

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: D308G

Domain	Start	End	E-Value	Type
Pfam:SRPRB	178	310	2.1e-6	PFAM
Pfam:GTP_EFTU	179	344	8.9e-34	PFAM
Pfam:MMR_HSR1	182	289	6.9e-10	PFAM
coiled coil region	449	484	N/A	INTRINSIC
Pfam:IF-2	504	607	6.5e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129893

Predicted Effect

unknown
Transcript: ENSMUST00000132783
AA Change: D117G

SMART Domains

Protein: ENSMUSP00000121327
Gene: ENSMUSG00000020459
AA Change: D117G

Domain	Start	End	E-Value	Type
PDB:3IZY\|P	47	247	8e-92	PDB
SCOP:d1g7sa1	163	244	2e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133452

Predicted Effect

probably benign
Transcript: ENSMUST00000136351

SMART Domains

Protein: ENSMUSP00000122801
Gene: ENSMUSG00000020459

Domain	Start	End	E-Value	Type
SCOP:d1f5na2	157	196	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144321
AA Change: D308G

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114299
Gene: ENSMUSG00000020459
AA Change: D308G

Domain	Start	End	E-Value	Type
Pfam:Arf	175	341	1.1e-5	PFAM
Pfam:SRPRB	178	310	1.5e-6	PFAM
Pfam:GTP_EFTU	178	344	3.8e-39	PFAM
Pfam:MMR_HSR1	182	289	1.1e-8	PFAM
Pfam:Miro	182	291	1.2e-9	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.2%
20x: 88.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,773,661 (GRCm39)	V950A	probably benign	Het
Adgrb3	A	T	1: 25,865,280 (GRCm39)	S188T	probably benign	Het
Ahr	A	T	12: 35,554,531 (GRCm39)	N529K	possibly damaging	Het
Akr1c21	A	G	13: 4,633,836 (GRCm39)	N302D	probably benign	Het
Aldh8a1	T	A	10: 21,260,530 (GRCm39)		probably null	Het
Alpk3	A	T	7: 80,753,105 (GRCm39)	K1554M	probably damaging	Het
Arhgef5	T	A	6: 43,250,330 (GRCm39)	H360Q	probably benign	Het
Cacna1a	A	G	8: 85,306,130 (GRCm39)	I1293V	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cd200r4	T	A	16: 44,653,307 (GRCm39)	W72R	probably damaging	Het
Ces2e	A	T	8: 105,653,646 (GRCm39)	D28V	possibly damaging	Het
Cfap20dc	T	C	14: 8,442,939 (GRCm38)	N610S	probably benign	Het
Cfap45	T	C	1: 172,373,264 (GRCm39)	Y534H	probably damaging	Het
Cfap54	A	T	10: 92,773,782 (GRCm39)	C87S	probably damaging	Het
Chmp7	C	T	14: 69,956,899 (GRCm39)	M336I	probably benign	Het
Chrna4	T	A	2: 180,675,931 (GRCm39)	M67L	possibly damaging	Het
Cplx3	G	A	9: 57,515,595 (GRCm39)	R427C	probably benign	Het
Cts7	T	A	13: 61,501,631 (GRCm39)	N290Y	probably damaging	Het
Enpp6	A	T	8: 47,483,489 (GRCm39)	M94L	probably damaging	Het
Fam83d	C	T	2: 158,610,443 (GRCm39)	A137V	probably benign	Het
Foxd2	C	T	4: 114,764,875 (GRCm39)	A382T	possibly damaging	Het
Galnt11	T	G	5: 25,455,244 (GRCm39)	S193R	probably damaging	Het
Gapvd1	A	T	2: 34,594,481 (GRCm39)	D856E	probably damaging	Het
Gclm	T	A	3: 122,056,337 (GRCm39)	H86Q	possibly damaging	Het
Gipc2	T	C	3: 151,813,634 (GRCm39)	T220A	probably benign	Het
Gm12185	G	T	11: 48,806,182 (GRCm39)	N336K	possibly damaging	Het
Gm5431	A	T	11: 48,786,191 (GRCm39)	S61R	probably benign	Het
Gorasp2	C	T	2: 70,518,744 (GRCm39)	P260S	probably damaging	Het
H2-M10.6	A	G	17: 37,124,052 (GRCm39)	Q172R	probably benign	Het
Ibsp	A	G	5: 104,450,018 (GRCm39)	I6V	probably damaging	Het
Iqsec1	T	C	6: 90,666,658 (GRCm39)	Y593C	probably damaging	Het
Irag1	T	C	7: 110,495,138 (GRCm39)	K429R	probably damaging	Het
Itln1	G	T	1: 171,359,119 (GRCm39)	Y61*	probably null	Het
Kif21a	G	A	15: 90,877,956 (GRCm39)	T284I	probably damaging	Het
Kif3a	G	A	11: 53,489,139 (GRCm39)	G621R	probably damaging	Het
Klb	A	G	5: 65,536,317 (GRCm39)	Y549C	probably damaging	Het
Lrrc37	T	C	11: 103,509,776 (GRCm39)		probably benign	Het
Map4	T	C	9: 109,864,032 (GRCm39)	V419A	probably benign	Het
Mastl	A	T	2: 23,023,144 (GRCm39)	D526E	probably benign	Het
Ncald	A	G	15: 37,397,578 (GRCm39)	F34S	probably damaging	Het
Ndc1	A	G	4: 107,253,009 (GRCm39)	T593A	probably benign	Het
Ndst3	C	T	3: 123,400,617 (GRCm39)	V15I	probably benign	Het
Nup214	A	G	2: 31,915,313 (GRCm39)	N1166D	probably benign	Het
Or1a1	A	G	11: 74,087,247 (GRCm39)	H306R	probably benign	Het
Or2ad1	A	G	13: 21,326,787 (GRCm39)	S147P	probably benign	Het
Or4a68	G	A	2: 89,270,213 (GRCm39)	Q137*	probably null	Het
Or5m8	A	T	2: 85,823,028 (GRCm39)	Y289F	probably damaging	Het
Pcdhb8	T	C	18: 37,489,780 (GRCm39)	I486T	probably benign	Het
Pdzrn4	A	T	15: 92,668,152 (GRCm39)	Y768F	probably benign	Het
Pgf	A	G	12: 85,218,541 (GRCm39)	S70P	probably benign	Het
Plcl2	G	A	17: 50,914,100 (GRCm39)	A370T	possibly damaging	Het
Pnkp	T	A	7: 44,511,961 (GRCm39)	W115R	probably benign	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Prag1	A	G	8: 36,613,799 (GRCm39)	E1117G	probably damaging	Het
Prr12	T	A	7: 44,678,471 (GRCm39)	Q1919L	unknown	Het
Ret	G	T	6: 118,150,519 (GRCm39)	H666N	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Robo2	C	T	16: 73,745,184 (GRCm39)	G864S	probably damaging	Het
Rpa2	T	G	4: 132,499,171 (GRCm39)	I80S	probably damaging	Het
Ryk	A	T	9: 102,775,674 (GRCm39)	D428V	probably damaging	Het
Slc29a1	A	T	17: 45,901,204 (GRCm39)	N30K	probably damaging	Het
Stbd1	A	G	5: 92,752,795 (GRCm39)	N95S	probably benign	Het
Tbc1d22a	A	G	15: 86,176,335 (GRCm39)	E212G	probably benign	Het
Tex14	A	G	11: 87,427,568 (GRCm39)	T7A	probably benign	Het
Tmc8	T	C	11: 117,683,389 (GRCm39)	V648A	possibly damaging	Het
Tmem132b	G	T	5: 125,864,083 (GRCm39)	V730F	probably damaging	Het
Tmub2	G	A	11: 102,178,196 (GRCm39)	G33D	possibly damaging	Het
Trak1	G	A	9: 121,269,745 (GRCm39)	D124N	probably damaging	Het
Ttc28	A	T	5: 111,378,977 (GRCm39)	Y1154F	probably damaging	Het
Ttn	T	C	2: 76,739,713 (GRCm39)	T3609A	probably benign	Het
Tulp2	A	G	7: 45,167,266 (GRCm39)	T99A	probably benign	Het
Ugt2a2	A	T	5: 87,613,427 (GRCm39)		probably null	Het
Ush2a	G	A	1: 188,410,608 (GRCm39)	V2419I	probably benign	Het
Vill	C	A	9: 118,899,389 (GRCm39)	P343Q	probably damaging	Het
Vmn2r66	T	A	7: 84,656,062 (GRCm39)	H318L	possibly damaging	Het
Wdr3	A	C	3: 100,049,535 (GRCm39)	N800K	probably benign	Het
Wdr93	A	G	7: 79,398,922 (GRCm39)	K19E	probably damaging	Het
Wrn	A	G	8: 33,806,436 (GRCm39)	S333P	probably damaging	Het
Zfp418	T	C	7: 7,185,500 (GRCm39)	S488P	possibly damaging	Het
Zfp804a	A	G	2: 82,087,041 (GRCm39)	E290G	probably benign	Het

Other mutations in Mtif2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Mtif2	APN	11	29,488,753 (GRCm39)	missense	probably damaging	1.00
IGL01020:Mtif2	APN	11	29,494,973 (GRCm39)	missense	possibly damaging	0.61
IGL01323:Mtif2	APN	11	29,491,447 (GRCm39)	missense	probably damaging	0.98
IGL01360:Mtif2	APN	11	29,480,110 (GRCm39)	missense	probably benign	0.00
IGL01744:Mtif2	APN	11	29,494,417 (GRCm39)	unclassified	probably benign
IGL01757:Mtif2	APN	11	29,491,337 (GRCm39)	unclassified	probably benign
IGL02247:Mtif2	APN	11	29,490,642 (GRCm39)	missense	possibly damaging	0.65
IGL02642:Mtif2	APN	11	29,494,395 (GRCm39)	missense	probably benign
IGL03093:Mtif2	APN	11	29,480,702 (GRCm39)	splice site	probably benign
R0418:Mtif2	UTSW	11	29,483,401 (GRCm39)	splice site	probably benign
R0554:Mtif2	UTSW	11	29,483,398 (GRCm39)	critical splice donor site	probably null
R0577:Mtif2	UTSW	11	29,490,862 (GRCm39)	critical splice donor site	probably null
R1159:Mtif2	UTSW	11	29,490,729 (GRCm39)	missense	possibly damaging	0.95
R1344:Mtif2	UTSW	11	29,495,002 (GRCm39)	missense	probably benign
R1418:Mtif2	UTSW	11	29,495,002 (GRCm39)	missense	probably benign
R1482:Mtif2	UTSW	11	29,486,847 (GRCm39)	missense	probably damaging	1.00
R1657:Mtif2	UTSW	11	29,490,721 (GRCm39)	missense	probably benign	0.00
R1850:Mtif2	UTSW	11	29,490,683 (GRCm39)	missense	probably benign	0.03
R3692:Mtif2	UTSW	11	29,490,718 (GRCm39)	missense	probably benign	0.03
R4471:Mtif2	UTSW	11	29,490,053 (GRCm39)	splice site	probably benign
R4730:Mtif2	UTSW	11	29,490,834 (GRCm39)	missense	probably benign	0.00
R5248:Mtif2	UTSW	11	29,486,889 (GRCm39)	missense	probably damaging	1.00
R5343:Mtif2	UTSW	11	29,486,964 (GRCm39)	missense	probably damaging	1.00
R5989:Mtif2	UTSW	11	29,480,098 (GRCm39)	missense	probably damaging	0.96
R6511:Mtif2	UTSW	11	29,486,949 (GRCm39)	missense	possibly damaging	0.81
R7209:Mtif2	UTSW	11	29,479,996 (GRCm39)	missense	probably benign	0.00
R7318:Mtif2	UTSW	11	29,490,115 (GRCm39)	missense	probably benign	0.25
R9120:Mtif2	UTSW	11	29,483,951 (GRCm39)	missense	probably benign	0.00
R9224:Mtif2	UTSW	11	29,494,364 (GRCm39)	missense	probably benign	0.09
R9256:Mtif2	UTSW	11	29,490,777 (GRCm39)	missense	probably benign	0.00
R9266:Mtif2	UTSW	11	29,480,065 (GRCm39)	missense	probably benign	0.00
R9745:Mtif2	UTSW	11	29,476,587 (GRCm39)	start gained	probably benign
X0064:Mtif2	UTSW	11	29,488,760 (GRCm39)	missense	probably benign	0.07

Predicted Primers

Posted On

2014-01-15