Mutagenetix > Incidental Mutation

Incidental Mutation 'R4255:Tefm'

321794

Institutional Source

Beutler Lab

Gene Symbol

Tefm

Ensembl Gene

ENSMUSG00000046909

Gene Name

transcription elongation factor, mitochondrial

Synonyms

FLJ22729, 1110002N22Rik

MMRRC Submission

041068-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4255 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80027504-80033001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80031075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 54 (S54T)

Ref Sequence

ENSEMBL: ENSMUSP00000114770 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017694] [ENSMUST00000050207] [ENSMUST00000108239] [ENSMUST00000131601]

AlphaFold

Q5SSK3

Predicted Effect

probably benign
Transcript: ENSMUST00000017694

SMART Domains

Protein: ENSMUSP00000017694
Gene: ENSMUSG00000017550

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1111	1347	5.14e-5	SMART
Blast:AAA	1409	1526	1e-31	BLAST
low complexity region	1573	1583	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050207
AA Change: S40T

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000059304
Gene: ENSMUSG00000046909
AA Change: S40T

Domain	Start	End	E-Value	Type
Pfam:HHH_3	78	136	1.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108239

SMART Domains

Protein: ENSMUSP00000103874
Gene: ENSMUSG00000017550

Domain	Start	End	E-Value	Type
low complexity region	298	311	N/A	INTRINSIC
low complexity region	327	342	N/A	INTRINSIC
low complexity region	467	486	N/A	INTRINSIC
coiled coil region	665	697	N/A	INTRINSIC
low complexity region	798	807	N/A	INTRINSIC
AAA	1108	1344	5.14e-5	SMART
Blast:AAA	1406	1523	1e-31	BLAST
low complexity region	1570	1580	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000131601
AA Change: S54T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114770
Gene: ENSMUSG00000046909
AA Change: S54T

Domain	Start	End	E-Value	Type
Pfam:HHH_3	88	147	1.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136996

SMART Domains

Protein: ENSMUSP00000122596
Gene: ENSMUSG00000046909

Domain	Start	End	E-Value	Type
low complexity region	27	42	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151815

Meta Mutation Damage Score

0.0754

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

93% (50/54)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,136,949 (GRCm39)	I171V	probably benign	Het
Actc1	T	C	2: 113,879,697 (GRCm39)	N254S	probably benign	Het
Adgrg1	T	G	8: 95,732,530 (GRCm39)		probably null	Het
Ankrd7	T	A	6: 18,869,880 (GRCm39)		probably null	Het
Baz2b	T	C	2: 59,750,916 (GRCm39)		probably benign	Het
Brca2	A	G	5: 150,464,634 (GRCm39)	E1466G	possibly damaging	Het
Dagla	G	A	19: 10,234,316 (GRCm39)	R332*	probably null	Het
Dnah5	T	A	15: 28,438,248 (GRCm39)	S3960T	probably benign	Het
Dnhd1	T	A	7: 105,362,205 (GRCm39)	L3689M	probably damaging	Het
Epn1	T	A	7: 5,100,637 (GRCm39)	L530Q	probably damaging	Het
Fgf17	C	A	14: 70,879,162 (GRCm39)		probably null	Het
Fgfr4	G	A	13: 55,314,064 (GRCm39)	V593M	probably damaging	Het
Fmo4	A	G	1: 162,621,895 (GRCm39)	C439R	probably benign	Het
Fndc3b	T	C	3: 27,555,556 (GRCm39)	K333E	possibly damaging	Het
Gpc6	A	G	14: 118,188,553 (GRCm39)	T396A	probably benign	Het
Igkv3-2	T	A	6: 70,676,045 (GRCm39)	V118D	probably benign	Het
Mtbp	C	A	15: 55,484,081 (GRCm39)	S470R	possibly damaging	Het
Myh8	A	G	11: 67,190,560 (GRCm39)	D1295G	probably benign	Het
Myo1h	T	C	5: 114,468,198 (GRCm39)	I331T	possibly damaging	Het
Myo7a	T	G	7: 97,721,171 (GRCm39)	M1265L	probably damaging	Het
Or13a18	C	A	7: 140,190,500 (GRCm39)	Y132*	probably null	Het
Or2ak7	A	T	11: 58,574,791 (GRCm39)	I31F	probably damaging	Het
Or2o1	G	A	11: 49,051,262 (GRCm39)	W140*	probably null	Het
Pak1ip1	A	G	13: 41,164,632 (GRCm39)		probably benign	Het
Pcdha11	A	G	18: 37,145,843 (GRCm39)	T645A	probably benign	Het
Peg12	A	G	7: 62,113,479 (GRCm39)	I206T	possibly damaging	Het
Pkhd1	A	G	1: 20,664,158 (GRCm39)	V140A	probably damaging	Het
Pramel29	T	A	4: 143,934,054 (GRCm39)	D351V	possibly damaging	Het
Prrc2c	C	A	1: 162,533,895 (GRCm39)		probably benign	Het
Ptprk	A	G	10: 28,082,241 (GRCm39)	E70G	probably benign	Het
Rabl6	C	T	2: 25,474,791 (GRCm39)	E640K	possibly damaging	Het
Rasd2	G	A	8: 75,948,538 (GRCm39)	E155K	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sdf4	A	G	4: 156,085,214 (GRCm39)	H183R	probably benign	Het
Slc12a9	C	T	5: 137,319,694 (GRCm39)	R607H	probably damaging	Het
Slc38a1	T	C	15: 96,483,431 (GRCm39)	D299G	probably benign	Het
Slc4a10	A	G	2: 62,112,280 (GRCm39)	N657S	probably benign	Het
Spata31d1c	C	G	13: 65,183,502 (GRCm39)	S348*	probably null	Het
Spata31d1c	T	C	13: 65,183,531 (GRCm39)	F358L	probably benign	Het
Srbd1	A	T	17: 86,410,350 (GRCm39)	S527R	possibly damaging	Het
Stag3	T	C	5: 138,289,143 (GRCm39)	V243A	probably damaging	Het
Terf1	T	C	1: 15,875,903 (GRCm39)	M1T	probably null	Het
Thsd7b	G	A	1: 129,688,024 (GRCm39)	S645N	possibly damaging	Het
Trmt13	G	T	3: 116,376,337 (GRCm39)	S285*	probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ush2a	C	T	1: 188,492,040 (GRCm39)	R3110*	probably null	Het
Vnn3	T	C	10: 23,741,720 (GRCm39)	Y342H	probably benign	Het

Other mutations in Tefm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01356:Tefm	APN	11	80,028,823 (GRCm39)	nonsense	probably null
IGL02164:Tefm	APN	11	80,030,915 (GRCm39)	missense	probably damaging	1.00
IGL02686:Tefm	APN	11	80,027,722 (GRCm39)	missense	probably damaging	1.00
R2037:Tefm	UTSW	11	80,031,056 (GRCm39)	missense	probably damaging	0.96
R4367:Tefm	UTSW	11	80,031,156 (GRCm39)	missense	probably benign	0.06
R4461:Tefm	UTSW	11	80,028,875 (GRCm39)	splice site	probably null
R4727:Tefm	UTSW	11	80,031,279 (GRCm39)	unclassified	probably benign
R4839:Tefm	UTSW	11	80,027,947 (GRCm39)	missense	probably benign	0.19
R4888:Tefm	UTSW	11	80,031,185 (GRCm39)	missense	possibly damaging	0.59
R5894:Tefm	UTSW	11	80,031,057 (GRCm39)	missense	probably damaging	0.96
R6266:Tefm	UTSW	11	80,028,814 (GRCm39)	missense	probably damaging	1.00
R6547:Tefm	UTSW	11	80,031,210 (GRCm39)	splice site	probably null
R8222:Tefm	UTSW	11	80,031,230 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- AACGGCCCAAACTTCTTTCTG -3'
(R):5'- CACTCCTCTTAAAGACAATTCTCTGTG -3'

Sequencing Primer
(F):5'- GACGGACTTCCTTCCTCGAAG -3'
(R):5'- GATAATATGGTCTGTGTGCAAGTC -3'

Posted On

2015-06-20