Mutagenetix > Incidental Mutation

Incidental Mutation 'R7209:Mtif2'

560945

Institutional Source

Beutler Lab

Gene Symbol

Mtif2

Ensembl Gene

ENSMUSG00000020459

Gene Name

mitochondrial translational initiation factor 2

Synonyms

2310038D14Rik, IF-2mt, 2410112O06Rik

MMRRC Submission

045338-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7209 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29476408-29495279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 29479996 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 21 (V21M)

Ref Sequence

ENSEMBL: ENSMUSP00000020749 (fasta)

Gene Model

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

AlphaFold

Q91YJ5

PDB Structure

Solution structure of C-terminal domain of mitochondrial translational initiationfactor 2 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020749
AA Change: V21M

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

SMART Domains

Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: V21M

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: V21M

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

SMART Domains

Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: V21M

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: 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: ENSMUST00000133452
AA Change: V21M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136351
AA Change: V21M

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

SMART Domains

Protein: ENSMUSP00000122801
Gene: ENSMUSG00000020459
AA Change: V21M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144321
AA Change: V21M

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

SMART Domains

Protein: ENSMUSP00000114299
Gene: ENSMUSG00000020459
AA Change: V21M

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (67/67)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	A	G	14: 68,767,268 (GRCm39)	Y61H	probably damaging	Het
Adgrb1	T	G	15: 74,441,797 (GRCm39)	V966G	possibly damaging	Het
Adh5	G	A	3: 138,148,909 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,333,207 (GRCm39)	V28A	probably damaging	Het
Apbb1	T	A	7: 105,215,292 (GRCm39)	I450F	probably damaging	Het
Arhgap23	C	T	11: 97,366,911 (GRCm39)	T1064I	probably damaging	Het
Arhgap23	G	C	11: 97,383,273 (GRCm39)		probably null	Het
Atg4b	A	G	1: 93,702,955 (GRCm39)	I128M	probably damaging	Het
Baat	A	T	4: 49,503,065 (GRCm39)	I19N	probably damaging	Het
Bspry	T	G	4: 62,404,852 (GRCm39)	I216S	possibly damaging	Het
Commd9	T	A	2: 101,725,483 (GRCm39)	S19T	possibly damaging	Het
Cr2	A	G	1: 194,851,032 (GRCm39)	C145R	probably damaging	Het
Cyp2c68	A	G	19: 39,677,649 (GRCm39)	L447P	probably damaging	Het
Depdc1b	T	C	13: 108,519,389 (GRCm39)	M333T	possibly damaging	Het
Dhx9	T	C	1: 153,340,369 (GRCm39)	T710A	possibly damaging	Het
Dnah5	T	C	15: 28,459,371 (GRCm39)	V4530A	possibly damaging	Het
Dohh	T	A	10: 81,221,874 (GRCm39)	H89Q	probably damaging	Het
Dop1b	T	A	16: 93,566,733 (GRCm39)	N1171K	probably benign	Het
Dscam	T	C	16: 96,451,544 (GRCm39)		probably null	Het
Entpd5	T	A	12: 84,443,702 (GRCm39)	S14C	probably benign	Het
Eqtn	G	A	4: 94,813,806 (GRCm39)	S125F	probably damaging	Het
Erp44	A	T	4: 48,211,704 (GRCm39)	D197E	probably benign	Het
Fgf18	A	T	11: 33,084,315 (GRCm39)	D46E	probably benign	Het
Foxa1	T	A	12: 57,590,077 (GRCm39)	M48L	probably benign	Het
Gabrg1	C	A	5: 70,911,513 (GRCm39)	C417F	probably damaging	Het
Glrp1	T	A	1: 88,431,004 (GRCm39)	Q122L	unknown	Het
Gm5622	A	G	14: 51,893,363 (GRCm39)	I97V	possibly damaging	Het
Gusb	A	G	5: 130,027,387 (GRCm39)	V306A	probably benign	Het
Hars1	A	G	18: 36,906,593 (GRCm39)	S126P	probably benign	Het
Herc1	A	G	9: 66,292,314 (GRCm39)	S356G	possibly damaging	Het
Hydin	C	A	8: 111,216,424 (GRCm39)	Y1336*	probably null	Het
Iftap	T	C	2: 101,396,727 (GRCm39)	*217W	probably null	Het
Kin	T	C	2: 10,096,564 (GRCm39)	Y138H	possibly damaging	Het
Lypd2	C	T	15: 74,604,266 (GRCm39)	V101M	probably benign	Het
Madcam1	A	T	10: 79,500,892 (GRCm39)	T70S	possibly damaging	Het
Man1a2	A	G	3: 100,554,395 (GRCm39)	C112R	unknown	Het
Mia2	T	A	12: 59,201,176 (GRCm39)	V198E	possibly damaging	Het
Mpdz	C	T	4: 81,225,114 (GRCm39)	V1438M	possibly damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nln	G	A	13: 104,209,406 (GRCm39)	Q56*	probably null	Het
Nlrp4b	T	C	7: 10,444,297 (GRCm39)	V82A	probably benign	Het
Obscn	C	A	11: 58,975,933 (GRCm39)	E2065*	probably null	Het
Or10g1	A	G	14: 52,647,550 (GRCm39)	C260R	possibly damaging	Het
Pilrb2	C	T	5: 137,869,126 (GRCm39)		probably null	Het
Plekhh1	C	A	12: 79,097,150 (GRCm39)	D99E	probably benign	Het
Polr2b	T	A	5: 77,491,026 (GRCm39)	F956I	probably damaging	Het
Ppp3cc	A	G	14: 70,504,947 (GRCm39)	F20L	probably benign	Het
Prmt9	T	C	8: 78,291,627 (GRCm39)	V333A	probably benign	Het
Psd4	T	C	2: 24,287,357 (GRCm39)	S430P	probably damaging	Het
Relch	C	A	1: 105,678,082 (GRCm39)	P1136T	probably damaging	Het
Rrp12	A	C	19: 41,861,388 (GRCm39)	V973G	possibly damaging	Het
Rxfp2	A	G	5: 149,976,563 (GRCm39)		probably null	Het
S100a6	G	A	3: 90,521,095 (GRCm39)	A8T	possibly damaging	Het
Sgsm2	C	A	11: 74,745,151 (GRCm39)	G717V	probably damaging	Het
Sipa1	A	G	19: 5,705,003 (GRCm39)	Y531H	probably damaging	Het
Slc45a1	A	C	4: 150,719,669 (GRCm39)		probably null	Het
Spopfm3	A	T	3: 94,106,012 (GRCm39)	Q110L	probably benign	Het
Srbd1	C	A	17: 86,308,948 (GRCm39)	L743F	probably damaging	Het
Taar2	A	T	10: 23,816,597 (GRCm39)	I46F	possibly damaging	Het
Tmem241	A	T	18: 12,237,229 (GRCm39)	V69D	probably damaging	Het
Tns1	T	C	1: 73,993,074 (GRCm39)	S535G	possibly damaging	Het
Trgc3	A	G	13: 19,445,334 (GRCm39)	N94S	probably benign	Het
Ttc34	C	A	4: 154,923,585 (GRCm39)	P98Q	probably damaging	Het
Ubr1	C	A	2: 120,693,246 (GRCm39)	R1720L	probably benign	Het
Ubr3	T	A	2: 69,846,478 (GRCm39)	D1597E	probably benign	Het
Unc79	T	C	12: 103,091,883 (GRCm39)	M1930T	probably benign	Het
Vmn2r100	A	T	17: 19,751,576 (GRCm39)	I603F	not run	Het
Vps26b	A	T	9: 26,921,288 (GRCm39)	S304T	probably benign	Het
Zfp952	A	T	17: 33,222,444 (GRCm39)	T308S	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
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
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'- CACTTGGTATAACATCTCGTCTCTG -3'
(R):5'- GAGCTATAAATCTGCAACAACCTTC -3'

Sequencing Primer
(F):5'- CGTCTCTGACTAGACCATGAG -3'
(R):5'- CTGCAACAACCTTCTTTGTTACAAG -3'

Posted On

2019-06-26