Mutagenetix > Incidental Mutation

Incidental Mutation 'R4461:Tefm'

330162

Institutional Source

Beutler Lab

Gene Symbol

Tefm

Ensembl Gene

ENSMUSG00000046909

Gene Name

transcription elongation factor, mitochondrial

Synonyms

FLJ22729, 1110002N22Rik

MMRRC Submission

041720-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R4461 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80027504-80033001 bp(-) (GRCm39)

Type of Mutation

splice site (2255 bp from exon)

DNA Base Change (assembly)

A to G at 80028875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103874 (fasta)

Gene Model

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

AlphaFold

Q5SSK3

Predicted Effect

probably null
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: S174P

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

SMART Domains

Protein: ENSMUSP00000059304
Gene: ENSMUSG00000046909
AA Change: S174P

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

Predicted Effect

probably null
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: S188P

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

SMART Domains

Protein: ENSMUSP00000114770
Gene: ENSMUSG00000046909
AA Change: S188P

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

Predicted Effect

silent
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

0.9548

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd12	T	C	17: 66,292,932 (GRCm39)		probably null	Het
Apex1	T	C	14: 51,163,970 (GRCm39)	V165A	probably damaging	Het
Btbd17	C	T	11: 114,684,815 (GRCm39)	D75N	possibly damaging	Het
Chd2	T	C	7: 73,190,622 (GRCm39)		probably benign	Het
Coq10a	T	C	10: 128,200,347 (GRCm39)	N138S	possibly damaging	Het
Ctbp1	A	T	5: 33,408,357 (GRCm39)	Y192N	probably damaging	Het
Cx3cl1	A	G	8: 95,507,184 (GRCm39)	*396W	probably null	Het
D6Ertd527e	T	C	6: 87,088,299 (GRCm39)	I154T	unknown	Het
Dao	T	A	5: 114,157,987 (GRCm39)	V203E	probably damaging	Het
Egr4	G	A	6: 85,489,322 (GRCm39)	A246V	probably damaging	Het
Gpsm1	G	A	2: 26,209,843 (GRCm39)		probably benign	Het
H2-Eb2	T	A	17: 34,552,497 (GRCm39)	V114E	possibly damaging	Het
Hpgds	A	G	6: 65,100,618 (GRCm39)	L120P	probably damaging	Het
Ikbke	C	T	1: 131,193,659 (GRCm39)	V464I	probably benign	Het
Kank2	G	A	9: 21,706,041 (GRCm39)	Q326*	probably null	Het
Klhl26	T	C	8: 70,904,194 (GRCm39)	Y538C	probably damaging	Het
Klkb1	A	G	8: 45,726,612 (GRCm39)	S464P	probably damaging	Het
Kmt2a	A	G	9: 44,760,263 (GRCm39)	Y529H	probably damaging	Het
Kmt2c	A	G	5: 25,504,874 (GRCm39)	V3478A	probably benign	Het
Knl1	A	C	2: 118,890,080 (GRCm39)	N44T	probably benign	Het
Letm2	A	G	8: 26,076,715 (GRCm39)	C296R	probably damaging	Het
Lrrc37a	A	G	11: 103,355,180 (GRCm39)		probably null	Het
Med20	T	C	17: 47,929,842 (GRCm39)	V93A	probably benign	Het
Mtmr11	T	C	3: 96,075,207 (GRCm39)		probably benign	Het
Muc1	A	T	3: 89,138,870 (GRCm39)	D493V	probably damaging	Het
Nek2	C	T	1: 191,554,827 (GRCm39)	P180S	probably damaging	Het
Nin	A	T	12: 70,089,359 (GRCm39)	M1352K	probably benign	Het
Or5aq1	T	C	2: 86,966,005 (GRCm39)	H220R	probably benign	Het
P3h3	A	T	6: 124,822,531 (GRCm39)	S547T	probably benign	Het
Pik3c2g	C	T	6: 139,787,407 (GRCm39)		probably benign	Het
Pkd1l3	A	G	8: 110,359,345 (GRCm39)		probably null	Het
Pzp	T	C	6: 128,501,003 (GRCm39)	I118M	probably benign	Het
Rps6ka5	C	A	12: 100,537,123 (GRCm39)	D536Y	probably damaging	Het
Rps6-ps2	A	G	8: 89,533,319 (GRCm39)		noncoding transcript	Het
Siglece	T	C	7: 43,300,929 (GRCm39)	Q462R	probably benign	Het
Sirt3	T	C	7: 140,444,913 (GRCm39)	D295G	possibly damaging	Het
Snph	G	A	2: 151,435,767 (GRCm39)	S318L	probably benign	Het
Snx18	T	C	13: 113,753,731 (GRCm39)	T401A	probably damaging	Het
Thada	T	C	17: 84,733,665 (GRCm39)	Y994C	probably damaging	Het
Trmt1	A	G	8: 85,425,778 (GRCm39)	N531D	probably benign	Het
Ttc17	A	G	2: 94,196,916 (GRCm39)	V477A	probably benign	Het
Ubxn10	T	A	4: 138,448,187 (GRCm39)	Q163L	probably benign	Het
Ulk4	A	T	9: 120,985,950 (GRCm39)	I908N	possibly damaging	Het
Zfp747l1	A	G	7: 126,983,917 (GRCm39)	L395P	probably damaging	Het
Zscan12	C	T	13: 21,550,789 (GRCm39)	S136L	possibly 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
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
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
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'- AACCTTGTAGGAATGCACAAGGC -3'
(R):5'- TAATTGCATCTTTATTTGTGTGTCCC -3'

Sequencing Primer
(F):5'- CAGAAAACAAGAAGCAGGGACCAAC -3'
(R):5'- ACAACTTGGGTGGCGTCAAC -3'

Posted On

2015-07-21