Mutagenetix > Incidental Mutation

Incidental Mutation 'R4730:Mtif2'

358776

Institutional Source

Beutler Lab

Gene Symbol

Mtif2

Ensembl Gene

ENSMUSG00000020459

Gene Name

mitochondrial translational initiation factor 2

Synonyms

2310038D14Rik, IF-2mt, 2410112O06Rik

MMRRC Submission

041990-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R4730 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29476408-29495279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29490834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 513 (S513T)

Ref Sequence

ENSEMBL: ENSMUSP00000090926 (fasta)

Gene Model

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

AlphaFold

Q91YJ5

Predicted Effect

probably benign
Transcript: ENSMUST00000020749
AA Change: S513T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: S513T

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: S513T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: S513T

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

probably benign
Transcript: ENSMUST00000132783

SMART Domains

Protein: ENSMUSP00000121327
Gene: ENSMUSG00000020459

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: ENSMUST00000144321

SMART Domains

Protein: ENSMUSP00000114299
Gene: ENSMUSG00000020459

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

Meta Mutation Damage Score

0.0581

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

99% (70/71)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff1	A	G	5: 103,990,939 (GRCm39)	Q963R	possibly damaging	Het
Arhgef28	C	T	13: 98,114,650 (GRCm39)	E645K	probably benign	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Col4a2	A	G	8: 11,487,590 (GRCm39)	N964S	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Duox1	T	G	2: 122,164,312 (GRCm39)	L924R	probably damaging	Het
Edem2	T	C	2: 155,547,618 (GRCm39)	E398G	possibly damaging	Het
Engase	A	G	11: 118,373,748 (GRCm39)	N297D	probably damaging	Het
Esp4	A	C	17: 40,913,445 (GRCm39)	Y104S	unknown	Het
Esp4	C	A	17: 40,913,446 (GRCm39)	Y104*	probably null	Het
Fat1	A	T	8: 45,486,514 (GRCm39)	N3356I	probably damaging	Het
Gm3867	T	A	9: 36,168,550 (GRCm39)		noncoding transcript	Het
Gm6818	C	T	7: 38,101,918 (GRCm39)		noncoding transcript	Het
Grip2	T	C	6: 91,762,693 (GRCm39)	*175W	probably null	Het
Gucy1b2	A	G	14: 62,645,208 (GRCm39)	V617A	probably damaging	Het
Gzmc	C	T	14: 56,469,089 (GRCm39)	C210Y	probably damaging	Het
Hmg20a	T	A	9: 56,374,703 (GRCm39)	S20T	possibly damaging	Het
Hs3st1	A	T	5: 39,772,148 (GRCm39)	L165*	probably null	Het
Ighv1-26	A	G	12: 114,752,409 (GRCm39)	I6T	probably benign	Het
Kcnk13	A	G	12: 100,027,974 (GRCm39)	K350E	probably damaging	Het
Lin9	T	A	1: 180,493,416 (GRCm39)	L198*	probably null	Het
Lrfn5	C	T	12: 61,887,505 (GRCm39)	A431V	probably benign	Het
Lta	C	T	17: 35,423,065 (GRCm39)	R86Q	probably benign	Het
Map3k4	T	A	17: 12,467,861 (GRCm39)	I1058L	probably damaging	Het
Muc4	C	T	16: 32,570,032 (GRCm39)	T364I	possibly damaging	Het
Nav1	C	A	1: 135,535,049 (GRCm39)		probably benign	Het
Nfrkb	T	C	9: 31,321,547 (GRCm39)	V748A	probably benign	Het
Obox6	A	T	7: 15,568,738 (GRCm39)	M46K	possibly damaging	Het
Or5g25	T	C	2: 85,478,336 (GRCm39)	T110A	probably benign	Het
Or5k1b	T	C	16: 58,581,105 (GRCm39)	I145V	probably benign	Het
Or5t17	C	T	2: 86,832,510 (GRCm39)	R66W	possibly damaging	Het
Or6c33	G	A	10: 129,853,416 (GRCm39)	R62Q	probably damaging	Het
Or9g19	G	T	2: 85,600,405 (GRCm39)	E87*	probably null	Het
P4htm	A	G	9: 108,456,971 (GRCm39)	V412A	possibly damaging	Het
Phb2	T	C	6: 124,690,086 (GRCm39)	S92P	probably damaging	Het
Phtf1	G	T	3: 103,894,751 (GRCm39)	R147L	probably damaging	Het
Pigk	C	T	3: 152,448,203 (GRCm39)	Q189*	probably null	Het
Plxnc1	G	A	10: 94,703,330 (GRCm39)		probably benign	Het
Prrx1	A	G	1: 163,140,182 (GRCm39)	V8A	probably benign	Het
Ptprg	G	A	14: 12,213,713 (GRCm38)	G252D	probably damaging	Het
Rnf4	G	T	5: 34,508,147 (GRCm39)	V134F	possibly damaging	Het
Scarf2	A	G	16: 17,620,877 (GRCm39)	T182A	probably damaging	Het
Setd1a	A	G	7: 127,396,502 (GRCm39)		probably benign	Het
Sgpp1	A	G	12: 75,781,713 (GRCm39)	F209L	probably benign	Het
Sh3d19	T	A	3: 86,024,171 (GRCm39)	S567T	possibly damaging	Het
Slc4a2	C	T	5: 24,639,878 (GRCm39)	R520W	probably damaging	Het
Slf1	T	C	13: 77,194,751 (GRCm39)	Q858R	probably damaging	Het
Slitrk3	G	T	3: 72,956,852 (GRCm39)	A640E	probably benign	Het
Smarca2	A	G	19: 26,608,073 (GRCm39)	Y44C	probably damaging	Het
Spon1	A	G	7: 113,632,306 (GRCm39)	E543G	possibly damaging	Het
Strn4	A	G	7: 16,562,719 (GRCm39)	Q286R	possibly damaging	Het
Suz12	T	C	11: 79,892,988 (GRCm39)		probably benign	Het
Syna	T	A	5: 134,587,440 (GRCm39)	E503V	probably damaging	Het
Syt14	C	T	1: 192,613,094 (GRCm39)	D569N	probably damaging	Het
Sytl2	A	G	7: 90,030,457 (GRCm39)		probably benign	Het
Tmprss11g	G	T	5: 86,637,091 (GRCm39)	S335*	probably null	Het
Tmprss11g	A	T	5: 86,637,092 (GRCm39)	S335T	probably damaging	Het
Trim66	A	G	7: 109,082,276 (GRCm39)	S226P	probably damaging	Het
Tubgcp3	T	C	8: 12,707,654 (GRCm39)	T112A	probably benign	Het
Ulk4	T	C	9: 121,092,791 (GRCm39)	S149G	probably benign	Het
Usp53	T	C	3: 122,756,582 (GRCm39)	D108G	probably null	Het
Vmn1r91	A	T	7: 19,835,695 (GRCm39)	T205S	possibly damaging	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
R1168:Mtif2	UTSW	11	29,486,914 (GRCm39)	missense	probably benign	0.11
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
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

PCR Primer
(F):5'- CCAGTTTTCCCTATAAAGCCAAGG -3'
(R):5'- CCAGGCTAGTTTGGGCTTAGAG -3'

Sequencing Primer
(F):5'- CCAAGGGCCCGTGAAGTTATTG -3'
(R):5'- GCAAGACTGCAACTCTTC -3'

Posted On

2015-11-11