Mutagenetix > Incidental Mutation

Incidental Mutation 'R2108:Gfm2'

232301

Institutional Source

Beutler Lab

Gene Symbol

Gfm2

Ensembl Gene

ENSMUSG00000021666

Gene Name

G elongation factor, mitochondrial 2

Synonyms

EFG2, MST027, A930009M04Rik, 6530419G12Rik

MMRRC Submission

040112-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.884) question?

Stock #

R2108 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

97274445-97317703 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 97291950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 229 (T229A)

Ref Sequence

ENSEMBL: ENSMUSP00000022170 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022170] [ENSMUST00000042084] [ENSMUST00000160139] [ENSMUST00000161639] [ENSMUST00000161825] [ENSMUST00000161913]

AlphaFold

Q8R2Q4

Predicted Effect

probably benign
Transcript: ENSMUST00000022170
AA Change: T229A

PolyPhen 2 Score 0.380 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022170
Gene: ENSMUSG00000021666
AA Change: T229A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	66	349	9.9e-64	PFAM
Pfam:GTP_EFTU_D2	379	446	4.3e-8	PFAM
low complexity region	447	473	N/A	INTRINSIC
Pfam:EFG_II	482	556	3.9e-29	PFAM
EFG_IV	558	677	2.94e-17	SMART
EFG_C	679	766	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042084
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000048373
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	324	4.6e-64	PFAM
Pfam:GTP_EFTU_D2	354	421	4.2e-8	PFAM
low complexity region	422	448	N/A	INTRINSIC
Pfam:EFG_II	457	531	3.7e-29	PFAM
EFG_IV	533	652	2.94e-17	SMART
EFG_C	654	741	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160139
AA Change: T233A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124426
Gene: ENSMUSG00000021666
AA Change: T233A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	241	3.5e-56	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160981

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160989

Predicted Effect

probably benign
Transcript: ENSMUST00000161639
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125656
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	1.2e-68	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	4.5e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	768	1.9e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161825
AA Change: T231A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000125088
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	2.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	1.1e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	558	7.1e-30	PFAM
EFG_IV	560	679	2.94e-17	SMART
EFG_C	681	738	3.46e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161913
AA Change: T231A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000124253
Gene: ENSMUSG00000021666
AA Change: T231A

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	68	351	3.3e-64	PFAM
Pfam:GTP_EFTU_D2	381	448	3.2e-8	PFAM
low complexity region	449	475	N/A	INTRINSIC
Pfam:EFG_II	484	532	2.1e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161843

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd10	A	G	16: 45,552,303 (GRCm39)	M190T	probably benign	Het
Abhd5	A	G	9: 122,207,005 (GRCm39)	Y250C	probably damaging	Het
Ace2	A	G	X: 162,923,728 (GRCm39)	N24S	probably benign	Het
Adamtsl2	A	G	2: 26,985,570 (GRCm39)	M485V	probably benign	Het
Adamtsl4	G	T	3: 95,588,357 (GRCm39)	P577H	probably damaging	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Apc	T	C	18: 34,402,282 (GRCm39)	Y141H	probably damaging	Het
Arsi	A	T	18: 61,049,443 (GRCm39)	T109S	possibly damaging	Het
Asb3	G	A	11: 31,031,355 (GRCm39)		probably null	Het
Atm	T	C	9: 53,355,297 (GRCm39)	D2899G	probably damaging	Het
Bcas3	G	A	11: 85,348,704 (GRCm39)	V199I	probably damaging	Het
Bub1	T	C	2: 127,661,255 (GRCm39)	K279E	probably damaging	Het
C3	A	T	17: 57,530,974 (GRCm39)		probably null	Het
Cabcoco1	T	C	10: 68,267,153 (GRCm39)	K185E	probably benign	Het
Cadm2	A	T	16: 66,528,357 (GRCm39)	I326N	probably benign	Het
Ccr3	T	C	9: 123,829,336 (GRCm39)	S224P	possibly damaging	Het
Cdhr4	A	G	9: 107,874,843 (GRCm39)	T638A	probably damaging	Het
Cfap46	T	C	7: 139,263,677 (GRCm39)	I4V	probably benign	Het
Csf2rb2	A	T	15: 78,176,744 (GRCm39)	V216E	probably damaging	Het
Csmd3	A	T	15: 47,868,257 (GRCm39)	D754E	possibly damaging	Het
Dnaaf1	T	C	8: 120,309,471 (GRCm39)		probably null	Het
Dnah11	A	C	12: 117,984,088 (GRCm39)	Y2466D	probably damaging	Het
Dtx2	C	T	5: 136,059,431 (GRCm39)	S493F	probably damaging	Het
E2f7	T	C	10: 110,616,763 (GRCm39)	Y668H	probably benign	Het
Ehmt1	A	T	2: 24,727,630 (GRCm39)	S735T	probably damaging	Het
Eomes	T	C	9: 118,307,920 (GRCm39)	F65L	probably benign	Het
Ercc6l2	T	C	13: 64,019,802 (GRCm39)		probably benign	Het
Fbrsl1	A	T	5: 110,526,300 (GRCm39)	L439Q	probably damaging	Het
Fyco1	C	T	9: 123,626,581 (GRCm39)		probably null	Het
Gm7735	G	A	16: 88,966,433 (GRCm39)	G19D	unknown	Het
Gnpda1	T	C	18: 38,466,243 (GRCm39)		probably null	Het
Gpr6	T	A	10: 40,946,649 (GRCm39)	Y311F	possibly damaging	Het
Gprc6a	A	T	10: 51,491,304 (GRCm39)	V744E	probably damaging	Het
Grin3a	C	T	4: 49,665,510 (GRCm39)	D1042N	possibly damaging	Het
Gstm3	A	G	3: 107,873,450 (GRCm39)	C174R	probably damaging	Het
Hectd4	A	G	5: 121,471,487 (GRCm39)	E2670G	possibly damaging	Het
Hsd3b6	A	T	3: 98,713,503 (GRCm39)	Y265*	probably null	Het
Hus1	T	A	11: 8,961,110 (GRCm39)	M1L	probably null	Het
Idi2l	G	A	13: 8,991,764 (GRCm39)	P221S	possibly damaging	Het
Ifi213	T	G	1: 173,396,668 (GRCm39)		probably null	Het
Igf2r	A	C	17: 12,917,138 (GRCm39)	N1587K	probably benign	Het
Ints1	A	T	5: 139,753,505 (GRCm39)	V709E	probably damaging	Het
Ints8	C	A	4: 11,235,552 (GRCm39)	R359L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lrp1b	C	T	2: 41,000,769 (GRCm39)	E2152K	probably damaging	Het
Lrp2	A	T	2: 69,336,968 (GRCm39)	V1268D	possibly damaging	Het
Mpo	T	C	11: 87,686,901 (GRCm39)	Y177H	probably damaging	Het
Mpp4	G	A	1: 59,182,941 (GRCm39)	P322L	possibly damaging	Het
Mprip	A	G	11: 59,660,717 (GRCm39)	K2166R	probably damaging	Het
Myo15a	T	C	11: 60,382,636 (GRCm39)	Y1544H	probably damaging	Het
Neu1	G	A	17: 35,153,374 (GRCm39)	R299Q	probably benign	Het
Nfxl1	C	A	5: 72,671,675 (GRCm39)		probably null	Het
Nrp2	T	A	1: 62,783,436 (GRCm39)	I179N	probably damaging	Het
Nup153	A	G	13: 46,846,986 (GRCm39)		probably null	Het
Or1j4	C	A	2: 36,740,355 (GRCm39)	A99E	possibly damaging	Het
Or2g7	G	T	17: 38,378,746 (GRCm39)	R228L	possibly damaging	Het
Or5p54	A	T	7: 107,554,709 (GRCm39)	H287L	probably benign	Het
Or6c6c	A	T	10: 129,541,490 (GRCm39)	I248L	probably benign	Het
Or8g27	A	T	9: 39,129,318 (GRCm39)	I222F	probably damaging	Het
P2ry12	A	T	3: 59,124,774 (GRCm39)	D300E	probably damaging	Het
Pkhd1	C	A	1: 20,623,798 (GRCm39)	G766*	probably null	Het
Plagl1	A	C	10: 13,004,391 (GRCm39)		probably benign	Het
Prkcq	A	T	2: 11,237,380 (GRCm39)	Y53F	probably damaging	Het
Psg18	T	C	7: 18,084,799 (GRCm39)	E99G	probably damaging	Het
Ptprz1	T	A	6: 23,033,476 (GRCm39)	H1921Q	probably damaging	Het
Rcc1l	A	G	5: 134,184,629 (GRCm39)	V391A	probably benign	Het
Sdr42e1	C	T	8: 118,391,763 (GRCm39)	V11I	probably damaging	Het
Slc12a3	C	A	8: 95,067,158 (GRCm39)	N404K	probably damaging	Het
Slc38a4	T	C	15: 96,906,878 (GRCm39)	M287V	probably benign	Het
Slc6a8	A	T	X: 72,720,492 (GRCm39)	I96F	possibly damaging	Het
Smyd2	A	G	1: 189,629,623 (GRCm39)	S136P	probably damaging	Het
Sox11	A	G	12: 27,391,702 (GRCm39)	Y236H	probably damaging	Het
Tbc1d2	G	A	4: 46,637,652 (GRCm39)	P198L	possibly damaging	Het
Tcof1	G	T	18: 60,968,845 (GRCm39)	A256E	probably damaging	Het
Tenm4	A	G	7: 96,555,497 (GRCm39)	Y2726C	probably damaging	Het
Tnfsf14	T	A	17: 57,497,867 (GRCm39)	R122W	probably damaging	Het
Tril	T	C	6: 53,796,068 (GRCm39)	T385A	probably damaging	Het
Trrap	A	G	5: 144,762,684 (GRCm39)	T2386A	probably benign	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Uba7	A	G	9: 107,856,487 (GRCm39)	M595V	probably benign	Het
Usp43	GC	G	11: 67,746,566 (GRCm39)		probably null	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r69	T	C	7: 85,059,404 (GRCm39)	I502V	probably benign	Het
Vps13d	C	A	4: 144,801,617 (GRCm39)	G419C	probably damaging	Het
Zbtb25	A	T	12: 76,396,880 (GRCm39)	M114K	probably benign	Het
Zcchc4	A	G	5: 52,953,474 (GRCm39)	Y161C	probably damaging	Het
Zfp292	A	T	4: 34,808,593 (GRCm39)	F1484I	possibly damaging	Het
Zfp326	A	G	5: 106,062,646 (GRCm39)		probably benign	Het
Zfp395	T	A	14: 65,630,565 (GRCm39)	S372T	probably benign	Het
Zfp423	T	A	8: 88,507,806 (GRCm39)	E825V	possibly damaging	Het
Zfp445	A	T	9: 122,681,305 (GRCm39)	Y879N	probably benign	Het
Zfp451	A	G	1: 33,818,248 (GRCm39)	I77T	possibly damaging	Het
Zfp85	A	T	13: 67,897,003 (GRCm39)	S356R	probably benign	Het

Other mutations in Gfm2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Gfm2	APN	13	97,291,950 (GRCm39)	missense	probably benign	0.38
IGL00781:Gfm2	APN	13	97,285,847 (GRCm39)	missense	probably damaging	1.00
IGL00789:Gfm2	APN	13	97,309,566 (GRCm39)	unclassified	probably benign
IGL00978:Gfm2	APN	13	97,299,485 (GRCm39)	missense	probably benign	0.20
IGL01637:Gfm2	APN	13	97,286,917 (GRCm39)	missense	probably damaging	1.00
IGL02318:Gfm2	APN	13	97,299,483 (GRCm39)	missense	probably damaging	1.00
R0825:Gfm2	UTSW	13	97,279,612 (GRCm39)	splice site	probably benign
R1173:Gfm2	UTSW	13	97,301,708 (GRCm39)	splice site	probably null
R1847:Gfm2	UTSW	13	97,299,442 (GRCm39)	missense	probably benign	0.04
R1932:Gfm2	UTSW	13	97,278,475 (GRCm39)	missense	probably damaging	0.96
R2104:Gfm2	UTSW	13	97,308,028 (GRCm39)	missense	probably damaging	0.99
R2877:Gfm2	UTSW	13	97,289,757 (GRCm39)	missense	possibly damaging	0.80
R2878:Gfm2	UTSW	13	97,289,757 (GRCm39)	missense	possibly damaging	0.80
R2898:Gfm2	UTSW	13	97,309,469 (GRCm39)	missense	possibly damaging	0.85
R3931:Gfm2	UTSW	13	97,311,532 (GRCm39)	missense	probably benign	0.02
R4011:Gfm2	UTSW	13	97,279,608 (GRCm39)	splice site	probably benign
R4831:Gfm2	UTSW	13	97,301,546 (GRCm39)	missense	probably damaging	1.00
R4921:Gfm2	UTSW	13	97,312,184 (GRCm39)	missense	probably damaging	0.99
R5182:Gfm2	UTSW	13	97,299,401 (GRCm39)	missense	probably damaging	1.00
R5309:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5310:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5311:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R5339:Gfm2	UTSW	13	97,311,548 (GRCm39)	missense	probably benign
R5594:Gfm2	UTSW	13	97,301,546 (GRCm39)	missense	probably damaging	1.00
R5599:Gfm2	UTSW	13	97,299,659 (GRCm39)	missense	probably damaging	1.00
R6014:Gfm2	UTSW	13	97,288,169 (GRCm39)	splice site	probably null
R6041:Gfm2	UTSW	13	97,309,131 (GRCm39)	missense	probably benign	0.11
R6108:Gfm2	UTSW	13	97,285,930 (GRCm39)	missense	possibly damaging	0.79
R6345:Gfm2	UTSW	13	97,299,461 (GRCm39)	missense	probably damaging	0.96
R6596:Gfm2	UTSW	13	97,301,657 (GRCm39)	missense	probably damaging	1.00
R6937:Gfm2	UTSW	13	97,299,572 (GRCm39)	splice site	probably null
R6958:Gfm2	UTSW	13	97,282,744 (GRCm39)	missense	probably damaging	1.00
R6996:Gfm2	UTSW	13	97,285,868 (GRCm39)	missense	probably damaging	1.00
R7291:Gfm2	UTSW	13	97,311,532 (GRCm39)	missense	probably benign	0.02
R7365:Gfm2	UTSW	13	97,279,529 (GRCm39)	missense	probably benign	0.06
R7456:Gfm2	UTSW	13	97,282,211 (GRCm39)	nonsense	probably null
R7585:Gfm2	UTSW	13	97,315,540 (GRCm39)	missense	probably benign	0.03
R7597:Gfm2	UTSW	13	97,309,086 (GRCm39)	missense	probably benign	0.00
R7766:Gfm2	UTSW	13	97,286,908 (GRCm39)	missense	probably damaging	1.00
R8290:Gfm2	UTSW	13	97,282,171 (GRCm39)	missense	probably benign	0.00
R8321:Gfm2	UTSW	13	97,299,500 (GRCm39)	missense	possibly damaging	0.80
R8372:Gfm2	UTSW	13	97,301,552 (GRCm39)	missense	possibly damaging	0.94
R8385:Gfm2	UTSW	13	97,301,519 (GRCm39)	missense	probably benign	0.41
R8404:Gfm2	UTSW	13	97,299,485 (GRCm39)	missense	probably benign	0.20
R9003:Gfm2	UTSW	13	97,282,889 (GRCm39)	unclassified	probably benign
R9031:Gfm2	UTSW	13	97,309,201 (GRCm39)	critical splice donor site	probably null
R9115:Gfm2	UTSW	13	97,301,707 (GRCm39)	critical splice donor site	probably null
R9261:Gfm2	UTSW	13	97,299,369 (GRCm39)	nonsense	probably null
R9360:Gfm2	UTSW	13	97,289,752 (GRCm39)	missense	probably damaging	0.98
R9463:Gfm2	UTSW	13	97,286,910 (GRCm39)	missense	probably damaging	1.00
R9575:Gfm2	UTSW	13	97,285,906 (GRCm39)	missense	probably damaging	1.00
Z1177:Gfm2	UTSW	13	97,299,501 (GRCm39)	critical splice donor site	probably null
Z1177:Gfm2	UTSW	13	97,299,500 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACCACATTTTGTAGTTCCTCGTCAG -3'
(R):5'- CAGACACAGTGGCACTAATTTTC -3'

Sequencing Primer
(F):5'- CTCGTCAGTTTATTGTGGCATAC -3'
(R):5'- CAGTGGCACTAATTTTCATTCACTG -3'

Posted On

2014-09-18