Mutagenetix > Incidental Mutation

Incidental Mutation 'R9266:Mtif2'

702553

Institutional Source

Beutler Lab

Gene Symbol

Mtif2

Ensembl Gene

ENSMUSG00000020459

Gene Name

mitochondrial translational initiation factor 2

Synonyms

2310038D14Rik, IF-2mt, 2410112O06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R9266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

29476408-29495279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29480065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 44 (W44R)

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: W44R

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

SMART Domains

Protein: ENSMUSP00000020749
Gene: ENSMUSG00000020459
AA Change: W44R

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: W44R

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

SMART Domains

Protein: ENSMUSP00000090926
Gene: ENSMUSG00000020459
AA Change: W44R

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: W44R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000136351
AA Change: W44R

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

SMART Domains

Protein: ENSMUSP00000122801
Gene: ENSMUSG00000020459
AA Change: W44R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144321
AA Change: W44R

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

SMART Domains

Protein: ENSMUSP00000114299
Gene: ENSMUSG00000020459
AA Change: W44R

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: 99.0%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	C	A	17: 36,270,178 (GRCm39)	E627*	probably null	Het
Aoc1l2	A	G	6: 48,907,171 (GRCm39)	N57S	probably benign	Het
Arhgap42	A	G	9: 9,006,386 (GRCm39)	V670A	probably benign	Het
Arhgef16	C	A	4: 154,375,922 (GRCm39)	R24L	probably benign	Het
Atad2	A	T	15: 57,985,967 (GRCm39)	D251E	probably benign	Het
Atf2	T	C	2: 73,649,271 (GRCm39)	S447G	probably benign	Het
Atp8b1	T	C	18: 64,704,108 (GRCm39)	M337V	probably benign	Het
Atp8b1	C	T	18: 64,710,528 (GRCm39)	D170N	possibly damaging	Het
Azin2	C	A	4: 128,856,230 (GRCm39)		probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Cdh19	A	G	1: 110,817,771 (GRCm39)	L657P	probably damaging	Het
Crybg3	A	T	16: 59,372,544 (GRCm39)	V598E	probably damaging	Het
Cwc22	A	G	2: 77,754,952 (GRCm39)	I208T	probably benign	Het
Cyp4a32	T	A	4: 115,468,307 (GRCm39)	D292E	probably damaging	Het
Dnah10	G	A	5: 124,845,990 (GRCm39)	V1510I	probably benign	Het
Dpp3	G	T	19: 4,964,686 (GRCm39)	Y540*	probably null	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Elf1	A	G	14: 79,798,290 (GRCm39)	D59G	probably benign	Het
Epc1	A	T	18: 6,449,219 (GRCm39)	M476K	probably benign	Het
Espnl	C	A	1: 91,272,771 (GRCm39)	S710R	probably benign	Het
Fam171b	T	C	2: 83,683,926 (GRCm39)	W148R	probably damaging	Het
Fhod1	A	G	8: 106,065,531 (GRCm39)	L88P	unknown	Het
Frmd4a	A	G	2: 4,610,846 (GRCm39)	S999G	probably damaging	Het
Glmp	T	C	3: 88,233,036 (GRCm39)	I58T	probably damaging	Het
Gm45861	T	A	8: 28,074,674 (GRCm39)	D1341E	unknown	Het
Gpr179	A	G	11: 97,227,766 (GRCm39)	I1463T	probably benign	Het
Gsdmc2	T	C	15: 63,698,088 (GRCm39)	E339G	probably damaging	Het
Insm1	A	T	2: 146,064,933 (GRCm39)	I250F	probably damaging	Het
Insm1	G	A	2: 146,064,943 (GRCm39)	G253D	possibly damaging	Het
Itih1	A	T	14: 30,652,222 (GRCm39)	S824T	probably damaging	Het
Lactb	A	G	9: 66,878,499 (GRCm39)	Y190H	possibly damaging	Het
Lrba	T	C	3: 86,198,774 (GRCm39)	M197T	probably benign	Het
Lrrc4c	A	G	2: 97,459,853 (GRCm39)	I160V	probably benign	Het
Lrrc59	A	T	11: 94,532,044 (GRCm39)		probably null	Het
Ltk	A	T	2: 119,585,121 (GRCm39)	M425K	possibly damaging	Het
Map9	T	C	3: 82,278,594 (GRCm39)	V198A	possibly damaging	Het
Mms22l	T	C	4: 24,578,878 (GRCm39)	Y746H	probably damaging	Het
Ms4a4b	A	G	19: 11,432,060 (GRCm39)	I60M	probably benign	Het
Nadsyn1	A	T	7: 143,369,348 (GRCm39)	W128R	probably damaging	Het
Nrcam	G	A	12: 44,636,917 (GRCm39)	A1117T	probably damaging	Het
Ntng1	G	A	3: 110,050,923 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 110,051,162 (GRCm39)	F56L	unknown	Het
Oas2	A	T	5: 120,887,637 (GRCm39)	Y68N	probably damaging	Het
Or4c119	A	T	2: 88,986,854 (GRCm39)	F222I	possibly damaging	Het
Or5b101	A	C	19: 13,005,648 (GRCm39)	L15R	probably damaging	Het
Or6c6c	T	C	10: 129,541,547 (GRCm39)	S267P	probably benign	Het
Pals2	T	C	6: 50,140,463 (GRCm39)	M161T	probably benign	Het
Paqr8	C	T	1: 21,005,863 (GRCm39)	T339I	probably benign	Het
Pcdhga10	A	G	18: 37,881,814 (GRCm39)	E525G	probably benign	Het
Psg28	T	G	7: 18,161,752 (GRCm39)	L250F	probably benign	Het
S100a13	G	T	3: 90,423,170 (GRCm39)	D54Y	unknown	Het
Slc16a4	A	T	3: 107,199,788 (GRCm39)	T12S	probably benign	Het
Slc9b1	A	G	3: 135,054,468 (GRCm39)		probably benign	Het
Slit3	T	C	11: 35,598,808 (GRCm39)	S1471P	probably damaging	Het
Smpdl3a	T	C	10: 57,678,596 (GRCm39)	V133A	possibly damaging	Het
Snap23	C	T	2: 120,414,781 (GRCm39)		probably benign	Het
Spp2	A	G	1: 88,344,975 (GRCm39)	M146V	probably benign	Het
Syf2	C	A	4: 134,663,321 (GRCm39)	N164K	possibly damaging	Het
Sync	T	G	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tex56	A	G	13: 35,116,569 (GRCm39)	K106R	possibly damaging	Het
Tmigd3	T	C	3: 105,824,216 (GRCm39)	F62L	probably benign	Het
Trpa1	C	T	1: 14,980,953 (GRCm39)		probably null	Het
U2surp	A	T	9: 95,366,468 (GRCm39)	I480N	probably damaging	Het
Usf3	C	T	16: 44,040,095 (GRCm39)	T1525I	probably damaging	Het
Vmn2r2	T	C	3: 64,024,057 (GRCm39)	I841M	probably damaging	Het
Zfp335	T	A	2: 164,738,007 (GRCm39)	Q868L	probably benign	Het
Zscan10	A	G	17: 23,828,385 (GRCm39)	E309G	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
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
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'- GCACTTGGTATAACATCTCGTCTC -3'
(R):5'- TCACAGGCTTACACAGTATTCTG -3'

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

Posted On

2022-03-25