Mutagenetix > Incidental Mutation

Incidental Mutation 'R0615:Tufm'

55018

Institutional Source

Beutler Lab

Gene Symbol

Tufm

Ensembl Gene

ENSMUSG00000073838

Gene Name

Tu translation elongation factor, mitochondrial

Synonyms

C76308, 2300002G02Rik, EF-TuMT

MMRRC Submission

038804-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.954) question?

Stock #

R0615 (G1)

Quality Score

159

Status

Validated

Chromosome

Chromosomal Location

126086533-126089903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 126086654 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 12 (R12L)

Ref Sequence

ENSEMBL: ENSMUSP00000102000 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040202] [ENSMUST00000098048] [ENSMUST00000106392] [ENSMUST00000167759] [ENSMUST00000206055] [ENSMUST00000206577] [ENSMUST00000206265] [ENSMUST00000206572]

AlphaFold

Q8BFR5

Predicted Effect

probably benign
Transcript: ENSMUST00000040202

SMART Domains

Protein: ENSMUSP00000035415
Gene: ENSMUSG00000032637

Domain	Start	End	E-Value	Type
low complexity region	4	21	N/A	INTRINSIC
low complexity region	36	54	N/A	INTRINSIC
low complexity region	56	73	N/A	INTRINSIC
Pfam:SM-ATX	119	189	8.5e-21	PFAM
LsmAD	262	331	1.95e-28	SMART
low complexity region	357	382	N/A	INTRINSIC
low complexity region	450	470	N/A	INTRINSIC
Pfam:PAM2	657	672	5.6e-8	PFAM
low complexity region	681	697	N/A	INTRINSIC
low complexity region	764	787	N/A	INTRINSIC
low complexity region	920	947	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	997	1008	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000098048
AA Change: R12L

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

SMART Domains

Protein: ENSMUSP00000095656
Gene: ENSMUSG00000073838
AA Change: R12L

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2e-55	PFAM
Pfam:GTP_EFTU_D2	272	341	1.3e-15	PFAM
Pfam:GTP_EFTU_D3	345	440	1.1e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106392
AA Change: R12L

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

SMART Domains

Protein: ENSMUSP00000102000
Gene: ENSMUSG00000073838
AA Change: R12L

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	55	249	2.7e-57	PFAM
Pfam:GTP_EFTU_D2	272	341	2.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167759

SMART Domains

Protein: ENSMUSP00000132959
Gene: ENSMUSG00000032637

Domain	Start	End	E-Value	Type
Pfam:SM-ATX	33	103	8.1e-23	PFAM
LsmAD	176	245	1.95e-28	SMART
low complexity region	271	296	N/A	INTRINSIC
low complexity region	364	384	N/A	INTRINSIC
Pfam:PAM2	571	587	4.2e-8	PFAM
low complexity region	595	611	N/A	INTRINSIC
low complexity region	678	701	N/A	INTRINSIC
low complexity region	834	861	N/A	INTRINSIC
low complexity region	893	905	N/A	INTRINSIC
low complexity region	911	922	N/A	INTRINSIC
low complexity region	944	960	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205346

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205478

Predicted Effect

probably benign
Transcript: ENSMUST00000206055

Predicted Effect

probably benign
Transcript: ENSMUST00000206577

Predicted Effect

probably benign
Transcript: ENSMUST00000206265

Predicted Effect

probably benign
Transcript: ENSMUST00000206572

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 94.8%

Validation Efficiency

100% (57/57)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411K16Rik	T	C	19: 42,040,962 (GRCm39)	I31T	possibly damaging	Het
Abca13	A	G	11: 9,206,197 (GRCm39)	I166V	probably damaging	Het
Acaa2	G	T	18: 74,931,517 (GRCm39)	V238L	probably benign	Het
Ahsg	A	T	16: 22,717,805 (GRCm39)	I296F	possibly damaging	Het
Aspm	T	A	1: 139,415,027 (GRCm39)	V1436D	probably damaging	Het
Ate1	A	T	7: 130,115,563 (GRCm39)		probably benign	Het
Atosa	T	A	9: 74,911,570 (GRCm39)	Y14N	probably damaging	Het
Atp1a4	A	T	1: 172,059,627 (GRCm39)		probably benign	Het
Aurkc	A	T	7: 7,005,402 (GRCm39)	I223L	possibly damaging	Het
Bckdha	G	T	7: 25,341,210 (GRCm39)	D50E	probably benign	Het
Brf2	C	T	8: 27,614,059 (GRCm39)	E376K	probably benign	Het
Cdk9	C	A	2: 32,599,813 (GRCm39)	L141F	possibly damaging	Het
Cgn	A	C	3: 94,678,024 (GRCm39)		probably benign	Het
Clcn1	G	A	6: 42,282,509 (GRCm39)	V526I	probably damaging	Het
Cnot2	A	G	10: 116,334,141 (GRCm39)	V343A	possibly damaging	Het
Commd2	A	T	3: 57,554,116 (GRCm39)	V195D	possibly damaging	Het
Cubn	C	T	2: 13,365,063 (GRCm39)		probably null	Het
Eif2ak4	C	T	2: 118,266,666 (GRCm39)	T729M	probably damaging	Het
Elac1	A	T	18: 73,871,954 (GRCm39)	V347E	probably damaging	Het
Fam209	T	C	2: 172,316,053 (GRCm39)	S143P	probably benign	Het
Fam20c	G	A	5: 138,793,241 (GRCm39)	R454Q	probably damaging	Het
Faxc	C	T	4: 21,958,608 (GRCm39)	S255L	probably benign	Het
Fem1al	C	A	11: 29,774,515 (GRCm39)	R314L	probably damaging	Het
Foxj1	T	C	11: 116,224,908 (GRCm39)	D153G	possibly damaging	Het
Gm6605	C	A	7: 38,147,699 (GRCm39)		noncoding transcript	Het
Lmo7	T	A	14: 102,114,295 (GRCm39)	Y12*	probably null	Het
Matn3	T	G	12: 9,013,594 (GRCm39)	C425W	probably damaging	Het
Mmd2	A	T	5: 142,550,668 (GRCm39)	M190K	probably benign	Het
Morn2	A	T	17: 80,603,026 (GRCm39)	T102S	probably damaging	Het
Nr3c2	A	C	8: 77,912,518 (GRCm39)	T710P	probably benign	Het
Nrros	C	A	16: 31,962,903 (GRCm39)	L343F	probably damaging	Het
Ntrk2	C	T	13: 59,276,000 (GRCm39)	Q767*	probably null	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4k47	C	T	2: 111,452,264 (GRCm39)	D52N	possibly damaging	Het
Plekhf2	C	T	4: 10,991,330 (GRCm39)	R4H	probably benign	Het
Ppox	A	G	1: 171,105,387 (GRCm39)		probably benign	Het
Qprt	T	A	7: 126,708,248 (GRCm39)	D61V	probably damaging	Het
Reln	A	G	5: 22,215,148 (GRCm39)	V1101A	probably benign	Het
Sbno1	T	C	5: 124,548,202 (GRCm39)	N124D	probably damaging	Het
Scx	C	T	15: 76,342,295 (GRCm39)	P165L	probably benign	Het
Sema6d	T	C	2: 124,496,055 (GRCm39)		probably benign	Het
Serf2	T	C	2: 121,281,336 (GRCm39)	F92L	probably benign	Het
Synpo2	A	T	3: 122,910,936 (GRCm39)	N236K	probably damaging	Het
Tbc1d32	C	A	10: 56,100,736 (GRCm39)	D81Y	probably benign	Het
Terf2	G	A	8: 107,809,622 (GRCm39)	T232I	possibly damaging	Het
Tpd52l2	A	G	2: 181,143,744 (GRCm39)	E50G	probably damaging	Het
Tprn	A	G	2: 25,154,210 (GRCm39)	E504G	probably damaging	Het
Vmn2r8	A	G	5: 108,947,195 (GRCm39)	F519S	probably damaging	Het
Vwa8	T	C	14: 79,145,590 (GRCm39)	V89A	probably benign	Het
Wnt3	T	C	11: 103,703,207 (GRCm39)	I230T	possibly damaging	Het
Zan	A	T	5: 137,466,693 (GRCm39)	F388Y	probably damaging	Het
Zfp474	C	T	18: 52,771,421 (GRCm39)	L25F	probably benign	Het

Other mutations in Tufm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02148:Tufm	APN	7	126,088,332 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Tufm	UTSW	7	126,086,621 (GRCm39)	start codon destroyed	probably null	0.77
R0140:Tufm	UTSW	7	126,089,003 (GRCm39)	missense	probably damaging	1.00
R0383:Tufm	UTSW	7	126,089,036 (GRCm39)	missense	probably damaging	1.00
R1158:Tufm	UTSW	7	126,088,614 (GRCm39)	critical splice donor site	probably null
R1713:Tufm	UTSW	7	126,086,871 (GRCm39)	missense	probably benign	0.00
R1766:Tufm	UTSW	7	126,089,644 (GRCm39)	missense	probably benign	0.10
R2172:Tufm	UTSW	7	126,088,019 (GRCm39)	missense	probably benign	0.01
R3721:Tufm	UTSW	7	126,089,632 (GRCm39)	missense	probably benign
R6027:Tufm	UTSW	7	126,086,920 (GRCm39)	missense	probably damaging	1.00
R6331:Tufm	UTSW	7	126,088,410 (GRCm39)	missense	probably benign	0.07
R6983:Tufm	UTSW	7	126,088,607 (GRCm39)	missense	possibly damaging	0.85
R7324:Tufm	UTSW	7	126,088,759 (GRCm39)	missense	possibly damaging	0.82
R7430:Tufm	UTSW	7	126,088,299 (GRCm39)	missense	probably benign	0.06
R7883:Tufm	UTSW	7	126,088,114 (GRCm39)	missense	possibly damaging	0.85
R8777:Tufm	UTSW	7	126,088,034 (GRCm39)	missense	probably benign	0.25
R8777-TAIL:Tufm	UTSW	7	126,088,034 (GRCm39)	missense	probably benign	0.25
R9189:Tufm	UTSW	7	126,088,849 (GRCm39)	nonsense	probably null
R9263:Tufm	UTSW	7	126,088,100 (GRCm39)	missense	probably damaging	1.00
X0067:Tufm	UTSW	7	126,087,504 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTGTGGAAATTCCCCATCGTCCC -3'
(R):5'- CGCGTACATAAGTCTTCTTGGCCTC -3'

Sequencing Primer
(F):5'- CATAGAAACTGTCTGCTAGAGGCTC -3'
(R):5'- ATAAGTCTTCTTGGCCTCCACAG -3'

Posted On

2013-07-11