Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02686:Tefm'

303572

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tefm

Ensembl Gene

ENSMUSG00000046909

Gene Name

transcription elongation factor, mitochondrial

Synonyms

FLJ22729, 1110002N22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL02686

Quality Score

Status

Chromosome

Chromosomal Location

80027504-80033001 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80027722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 345 (L345F)

Ref Sequence

ENSEMBL: ENSMUSP00000059304 (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

probably damaging
Transcript: ENSMUST00000050207
AA Change: L345F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059304
Gene: ENSMUSG00000046909
AA Change: L345F

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 benign
Transcript: ENSMUST00000131601

SMART Domains

Protein: ENSMUSP00000114770
Gene: ENSMUSG00000046909

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	C	T	12: 81,468,448 (GRCm39)	G58S	possibly damaging	Het
Adcyap1r1	G	A	6: 55,458,110 (GRCm39)	A304T	probably benign	Het
Adipoq	A	G	16: 22,975,865 (GRCm39)	T110A	possibly damaging	Het
Ago2	T	C	15: 72,985,591 (GRCm39)	Y668C	possibly damaging	Het
Ampd2	A	T	3: 107,983,811 (GRCm39)	D575E	possibly damaging	Het
Anxa5	C	T	3: 36,503,504 (GRCm39)	E317K	probably benign	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
Bicc1	C	A	10: 70,779,190 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,721,840 (GRCm39)	M559T	probably benign	Het
Bltp3a	T	C	17: 28,113,563 (GRCm39)	I1245T	probably benign	Het
Bltp3b	A	T	10: 89,641,055 (GRCm39)	Q742L	probably benign	Het
Cacna1e	G	A	1: 154,369,155 (GRCm39)	A294V	probably damaging	Het
Cacna1h	G	A	17: 25,604,723 (GRCm39)	P1197S	possibly damaging	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cts8	T	C	13: 61,398,784 (GRCm39)	T241A	probably benign	Het
Cubn	T	C	2: 13,330,037 (GRCm39)	I2615V	possibly damaging	Het
Cxcl12	A	G	6: 117,150,546 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,140,000 (GRCm39)	D307G	probably damaging	Het
Flt1	T	C	5: 147,525,412 (GRCm39)	I909V	probably damaging	Het
Foxk1	T	A	5: 142,439,340 (GRCm39)	S427T	probably damaging	Het
Gosr1	G	A	11: 76,641,688 (GRCm39)	T130M	probably benign	Het
Grik1	G	T	16: 87,806,649 (GRCm39)		probably null	Het
Hipk1	C	T	3: 103,685,333 (GRCm39)	S94N	possibly damaging	Het
Ints7	T	C	1: 191,318,704 (GRCm39)	L147P	probably damaging	Het
Nsd3	A	G	8: 26,156,086 (GRCm39)	D551G	probably damaging	Het
Or11g25	G	A	14: 50,723,426 (GRCm39)	M170I	probably benign	Het
Or5p81	A	T	7: 108,267,093 (GRCm39)	I157F	probably benign	Het
Prrc2c	T	C	1: 162,535,516 (GRCm39)		probably benign	Het
Ren1	A	T	1: 133,286,207 (GRCm39)	N250I	possibly damaging	Het
Ripply2	A	C	9: 86,898,009 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,768,975 (GRCm39)		probably benign	Het
Smad3	T	A	9: 63,575,064 (GRCm39)	K51M	probably damaging	Het
Snapc1	C	A	12: 74,011,370 (GRCm39)		probably benign	Het
Srfbp1	T	G	18: 52,608,726 (GRCm39)	V42G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Tat	T	C	8: 110,723,481 (GRCm39)	V323A	probably damaging	Het
Tdo2	T	C	3: 81,875,462 (GRCm39)	N164S	probably benign	Het
Tmem145	C	A	7: 25,014,150 (GRCm39)	N407K	probably damaging	Het
Vmn2r116	A	G	17: 23,607,767 (GRCm39)	N445S	probably damaging	Het
Vmn2r20	A	G	6: 123,362,585 (GRCm39)	M733T	probably benign	Het
Vmn2r93	G	A	17: 18,533,526 (GRCm39)	V477M	possibly damaging	Het
Zdhhc4	A	G	5: 143,306,146 (GRCm39)	F194S	probably damaging	Het
Zfp738	A	T	13: 67,821,771 (GRCm39)	S25T	probably damaging	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
R2037:Tefm	UTSW	11	80,031,056 (GRCm39)	missense	probably damaging	0.96
R4255:Tefm	UTSW	11	80,031,075 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2015-04-16