Mutagenetix > Incidental Mutation

Incidental Mutation 'R2214:Timm23'

241042

Institutional Source

Beutler Lab

Gene Symbol

Timm23

Ensembl Gene

ENSMUSG00000013701

Gene Name

translocase of inner mitochondrial membrane 23

Synonyms

Tim23

MMRRC Submission

040216-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2214 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31902123-31923848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31920944 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 49 (D49E)

Ref Sequence

ENSEMBL: ENSMUSP00000013845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000022470] [ENSMUST00000163350] [ENSMUST00000163379] [ENSMUST00000164137] [ENSMUST00000170129] [ENSMUST00000170331] [ENSMUST00000226683] [ENSMUST00000171279] [ENSMUST00000170840]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000013845
AA Change: D49E

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
AA Change: D49E

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
Pfam:Tim17	76	196	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022470

SMART Domains

Protein: ENSMUSP00000022470
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
low complexity region	190	204	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:PARG_cat	574	902	2.5e-135	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163350

SMART Domains

Protein: ENSMUSP00000131566
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
low complexity region	190	204	N/A	INTRINSIC
low complexity region	286	298	N/A	INTRINSIC
Pfam:PARG_cat	570	905	5.1e-134	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000163379
AA Change: D49E

SMART Domains

Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701
AA Change: D49E

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000164137

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168813

Predicted Effect

probably benign
Transcript: ENSMUST00000170129

Predicted Effect

unknown
Transcript: ENSMUST00000170331
AA Change: D49E

SMART Domains

Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701
AA Change: D49E

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170233

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226683
AA Change: D49E

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000171279

SMART Domains

Protein: ENSMUSP00000128629
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
low complexity region	107	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170840

SMART Domains

Protein: ENSMUSP00000132454
Gene: ENSMUSG00000021911

Domain	Start	End	E-Value	Type
Pfam:PARG_cat	117	452	9.7e-135	PFAM

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.] The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die prior to E3.5. Mice heterogygous for this allele exhibit background sensitive premature aging and increased mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	T	C	16: 30,926,946 (GRCm39)	Y516C	probably benign	Het
Adam22	C	T	5: 8,186,805 (GRCm39)		probably null	Het
Akap8l	T	C	17: 32,557,799 (GRCm39)		probably null	Het
Casr	T	C	16: 36,336,120 (GRCm39)	Y63C	probably damaging	Het
Ccdc178	T	C	18: 22,048,047 (GRCm39)	D781G	possibly damaging	Het
Col9a1	C	A	1: 24,247,283 (GRCm39)	P168Q	probably damaging	Het
Dnm2	T	C	9: 21,397,019 (GRCm39)		probably null	Het
Dst	C	T	1: 34,310,482 (GRCm39)	T6325M	probably damaging	Het
Ercc4	C	A	16: 12,927,888 (GRCm39)	D19E	probably damaging	Het
Gm1110	C	A	9: 26,813,786 (GRCm39)	V198L	probably benign	Het
Gm8674	T	A	13: 50,055,396 (GRCm39)		noncoding transcript	Het
Grm7	A	T	6: 111,335,958 (GRCm39)	I790F	probably damaging	Het
Habp2	A	G	19: 56,306,249 (GRCm39)	D445G	possibly damaging	Het
Kat7	G	A	11: 95,166,631 (GRCm39)	T517I	probably damaging	Het
Kbtbd11	T	A	8: 15,079,178 (GRCm39)	D592E	possibly damaging	Het
Lgals8	T	A	13: 12,469,713 (GRCm39)	Q82L	probably benign	Het
Lmtk3	A	G	7: 45,444,277 (GRCm39)		probably benign	Het
Map2	A	T	1: 66,459,345 (GRCm39)	D1530V	probably damaging	Het
Map2k6	G	A	11: 110,387,167 (GRCm39)	V180I	probably damaging	Het
Map3k5	T	A	10: 19,902,035 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,623,327 (GRCm39)	E2059G	probably benign	Het
Myh10	A	G	11: 68,673,953 (GRCm39)	D660G	probably damaging	Het
Myo16	T	A	8: 10,488,803 (GRCm39)	V658E	probably damaging	Het
Nckap5	A	T	1: 125,953,487 (GRCm39)	S1090T	possibly damaging	Het
Nhlrc3	T	C	3: 53,363,875 (GRCm39)	H217R	probably damaging	Het
Ntrk3	T	A	7: 78,166,520 (GRCm39)	I118F	probably damaging	Het
Or14a259	T	A	7: 86,013,414 (GRCm39)	I44F	probably benign	Het
Or1e29	A	T	11: 73,667,655 (GRCm39)	L166*	probably null	Het
Or4p20	C	T	2: 88,253,461 (GRCm39)	V303M	probably benign	Het
Paxip1	T	C	5: 27,947,499 (GRCm39)	Y1053C	probably damaging	Het
Pfkfb4	T	A	9: 108,834,677 (GRCm39)	F117I	probably benign	Het
Pp2d1	T	C	17: 53,822,424 (GRCm39)	Y214C	probably benign	Het
Prr7	C	A	13: 55,620,613 (GRCm39)	S207*	probably null	Het
Ptprh	T	A	7: 4,555,921 (GRCm39)	Q715L	possibly damaging	Het
Rasgrp1	A	T	2: 117,115,646 (GRCm39)	D647E	probably damaging	Het
Rnf20	T	A	4: 49,648,344 (GRCm39)	M384K	possibly damaging	Het
Rps6kb1	A	T	11: 86,424,896 (GRCm39)	C37S	possibly damaging	Het
Serpinb9f	C	A	13: 33,518,592 (GRCm39)	T364K	probably benign	Het
Sorbs1	C	T	19: 40,285,075 (GRCm39)	A641T	probably damaging	Het
Srrm2	T	C	17: 24,035,719 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,299,528 (GRCm39)	S849L	possibly damaging	Het
Syt15	A	T	14: 33,944,989 (GRCm39)	S179C	probably damaging	Het
Tapbp	T	C	17: 34,139,300 (GRCm39)	F90L	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tmem174	A	C	13: 98,773,757 (GRCm39)	S24R	possibly damaging	Het
Tmem63a	A	G	1: 180,788,679 (GRCm39)	S339G	probably benign	Het
Tsc22d2	A	G	3: 58,323,627 (GRCm39)	Y173C	probably damaging	Het
Ubap2	A	G	4: 41,199,714 (GRCm39)		probably null	Het
Upp1	T	A	11: 9,086,033 (GRCm39)	V290E	probably benign	Het
Uqcc4	T	C	17: 25,403,699 (GRCm39)	V13A	probably benign	Het
Usp17lb	A	T	7: 104,490,639 (GRCm39)	M96K	probably benign	Het
Wdr20rt	A	G	12: 65,274,187 (GRCm39)	E449G	probably damaging	Het
Zkscan8	A	T	13: 21,705,082 (GRCm39)	S286T	probably benign	Het

Other mutations in Timm23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Timm23	APN	14	31,902,612 (GRCm39)	missense	probably benign	0.34
IGL02023:Timm23	APN	14	31,915,804 (GRCm39)	splice site	probably benign
R0666:Timm23	UTSW	14	31,920,993 (GRCm39)	splice site	probably benign
R5132:Timm23	UTSW	14	31,915,902 (GRCm39)	missense	probably damaging	1.00
R5161:Timm23	UTSW	14	31,915,882 (GRCm39)	missense	probably damaging	1.00
R5427:Timm23	UTSW	14	31,911,103 (GRCm39)	missense	possibly damaging	0.95
R6518:Timm23	UTSW	14	31,923,594 (GRCm39)	splice site	probably null
R7659:Timm23	UTSW	14	31,920,935 (GRCm39)	nonsense	probably null
R7692:Timm23	UTSW	14	31,902,520 (GRCm39)	missense	probably damaging	1.00
R9484:Timm23	UTSW	14	31,902,586 (GRCm39)	missense	probably benign	0.00
R9609:Timm23	UTSW	14	31,902,543 (GRCm39)	missense	probably benign	0.21
RF024:Timm23	UTSW	14	31,902,512 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTATGCTGCCTAGACAATTCTGAG -3'
(R):5'- ATCTTATGAAAATGTAGGGCATGGG -3'

Sequencing Primer
(F):5'- CTGCCTAGACAATTCTGAGAAGTAG -3'
(R):5'- GGCAAGGCCTAATTCCCAAAG -3'

Posted On

2014-10-15