Mutagenetix > Incidental Mutation

Incidental Mutation 'R5010:Timm50'

390436

Institutional Source

Beutler Lab

Gene Symbol

Timm50

Ensembl Gene

ENSMUSG00000003438

Gene Name

translocase of inner mitochondrial membrane 50

Synonyms

TIM50L, 2810403L02Rik

MMRRC Submission

042601-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5010 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

28004941-28011497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 28006284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 272 (D272E)

Ref Sequence

ENSEMBL: ENSMUSP00000080614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081946] [ENSMUST00000108315]

AlphaFold

Q9D880

Predicted Effect

probably benign
Transcript: ENSMUST00000081946
AA Change: D272E

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: D272E

Domain	Start	End	E-Value	Type
low complexity region	2	16	N/A	INTRINSIC
transmembrane domain	66	88	N/A	INTRINSIC
CPDc	146	274	1.33e-41	SMART
low complexity region	313	330	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108315

SMART Domains

Protein: ENSMUSP00000103951
Gene: ENSMUSG00000003436

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Blast:EGF	60	118	3e-18	BLAST
low complexity region	140	154	N/A	INTRINSIC
low complexity region	183	198	N/A	INTRINSIC
EGF	211	247	1.53e1	SMART
EGF	275	308	3.08e-6	SMART
EGF	313	349	8.25e-7	SMART
EGF	354	387	2.83e-5	SMART
EGF	392	425	1.04e-3	SMART
EGF	430	463	7.07e-6	SMART
transmembrane domain	489	511	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136427

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151990

Meta Mutation Damage Score

0.0962

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

98% (65/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the TIM23 inner mitochondrial membrane translocase complex. The encoded protein functions as the receptor subunit that recognizes the mitochondrial targeting signal, or presequence, on protein cargo that is destined for the mitochondrial inner membrane and matrix. This protein may also play a role in maintaining the membrane permeability barrier, and knockdown of this gene in human cells results in the release of cytochrome c and apoptosis. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	C	T	11: 58,313,630 (GRCm39)	A86V	possibly damaging	Het
9430097D07Rik	A	G	2: 32,464,440 (GRCm39)		probably benign	Het
Actr5	T	A	2: 158,477,283 (GRCm39)	D411E	probably benign	Het
Ang5	A	G	14: 44,200,302 (GRCm39)	D122G	probably benign	Het
Atg9a	A	T	1: 75,162,704 (GRCm39)		probably null	Het
Cracd	G	C	5: 76,805,681 (GRCm39)		probably benign	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Ddx11	G	A	17: 66,454,717 (GRCm39)	V642M	possibly damaging	Het
Dis3l2	G	A	1: 86,688,043 (GRCm39)	V100I	probably benign	Het
Echdc2	T	C	4: 108,029,328 (GRCm39)	V111A	probably benign	Het
Egr1	A	G	18: 34,996,711 (GRCm39)	T498A	probably benign	Het
Exosc3	T	C	4: 45,317,702 (GRCm39)	K200R	possibly damaging	Het
Exosc8	T	C	3: 54,636,644 (GRCm39)	D229G	probably benign	Het
Ext1	T	A	15: 52,955,808 (GRCm39)	I430F	probably damaging	Het
Fbxw22	T	C	9: 109,232,492 (GRCm39)	N31S	probably benign	Het
Gja8	T	C	3: 96,827,165 (GRCm39)	T166A	probably benign	Het
Gm21814	T	A	6: 149,485,116 (GRCm39)		noncoding transcript	Het
Gm21915	T	A	9: 40,581,944 (GRCm39)	H12Q	probably benign	Het
Hgsnat	G	A	8: 26,437,988 (GRCm39)	R527*	probably null	Het
Iqgap2	A	G	13: 95,810,251 (GRCm39)	F731S	probably benign	Het
Jchain	T	C	5: 88,670,364 (GRCm39)	H85R	probably damaging	Het
Kcnb2	T	C	1: 15,383,186 (GRCm39)	C171R	probably benign	Het
Kcnk3	C	A	5: 30,780,149 (GRCm39)	R400S	possibly damaging	Het
Klhl28	C	T	12: 65,004,001 (GRCm39)	E171K	probably damaging	Het
Lrrfip2	T	C	9: 111,053,040 (GRCm39)	I375T	possibly damaging	Het
Mccc1	T	C	3: 36,033,166 (GRCm39)	N326S	probably benign	Het
Med13l	T	C	5: 118,731,615 (GRCm39)	V97A	possibly damaging	Het
Mertk	C	A	2: 128,625,920 (GRCm39)	T685K	probably benign	Het
Msh2	C	A	17: 88,030,841 (GRCm39)	A906E	probably benign	Het
Myom2	G	A	8: 15,133,310 (GRCm39)	V401M	probably damaging	Het
Nme5	A	C	18: 34,711,738 (GRCm39)	M1R	probably null	Het
Nop2	T	C	6: 125,110,726 (GRCm39)	S68P	probably benign	Het
Notch1	A	T	2: 26,366,126 (GRCm39)	D809E	possibly damaging	Het
Or14c39	T	C	7: 86,343,793 (GRCm39)	I43T	possibly damaging	Het
Ppat	C	T	5: 77,076,525 (GRCm39)		probably benign	Het
Prss23	T	A	7: 89,159,422 (GRCm39)	M216L	probably benign	Het
Psg18	A	T	7: 18,083,279 (GRCm39)	V171D	probably damaging	Het
Psg28	A	G	7: 18,161,816 (GRCm39)	V229A	probably damaging	Het
Qser1	T	C	2: 104,618,176 (GRCm39)	N879D	possibly damaging	Het
Rpap1	T	C	2: 119,600,522 (GRCm39)	N879S	probably benign	Het
Rusc2	T	C	4: 43,415,926 (GRCm39)	S411P	probably damaging	Het
Rxfp2	T	A	5: 149,990,825 (GRCm39)	W519R	probably damaging	Het
Scpep1	T	A	11: 88,832,175 (GRCm39)	Q185L	probably benign	Het
Serpinb11	A	G	1: 107,307,379 (GRCm39)	N270S	probably benign	Het
Serpinb6d	T	A	13: 33,855,427 (GRCm39)	M367K	probably benign	Het
Skint10	T	G	4: 112,584,869 (GRCm39)	I213L	probably benign	Het
Skint5	T	C	4: 113,403,734 (GRCm39)	T1163A	unknown	Het
Slamf9	A	T	1: 172,303,780 (GRCm39)	I42L	possibly damaging	Het
Slc1a3	T	C	15: 8,680,330 (GRCm39)		probably benign	Het
Smad6	T	A	9: 63,861,182 (GRCm39)	Q371L	possibly damaging	Het
Snx31	A	T	15: 36,555,469 (GRCm39)	V26E	probably damaging	Het
Spata31e5	A	G	1: 28,816,943 (GRCm39)	I363T	possibly damaging	Het
Taf4b	A	G	18: 14,955,229 (GRCm39)	N594S	possibly damaging	Het
Tanc2	T	C	11: 105,670,918 (GRCm39)	S172P	probably damaging	Het
Tas2r110	T	A	6: 132,845,438 (GRCm39)	Y156*	probably null	Het
Tbc1d20	G	A	2: 152,135,856 (GRCm39)		probably benign	Het
Ttn	T	G	2: 76,730,855 (GRCm39)		probably benign	Het
Vps13c	T	A	9: 67,823,661 (GRCm39)	F1362I	probably benign	Het
Vwf	T	C	6: 125,543,220 (GRCm39)	S154P	probably benign	Het
Zfp445	T	C	9: 122,681,410 (GRCm39)	R844G	probably benign	Het

Other mutations in Timm50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0402:Timm50	UTSW	7	28,006,280 (GRCm39)	missense	probably damaging	1.00
R0709:Timm50	UTSW	7	28,006,366 (GRCm39)	missense	probably damaging	1.00
R3881:Timm50	UTSW	7	28,010,432 (GRCm39)	missense	probably benign
R4604:Timm50	UTSW	7	28,010,443 (GRCm39)	missense	probably benign
R4947:Timm50	UTSW	7	28,009,469 (GRCm39)	unclassified	probably benign
R5359:Timm50	UTSW	7	28,007,592 (GRCm39)	missense	probably damaging	1.00
R6866:Timm50	UTSW	7	28,005,370 (GRCm39)	missense	probably damaging	1.00
R8033:Timm50	UTSW	7	28,006,258 (GRCm39)	missense	possibly damaging	0.50
R8242:Timm50	UTSW	7	28,007,836 (GRCm39)	missense	probably benign	0.06
R9562:Timm50	UTSW	7	28,007,069 (GRCm39)	missense	possibly damaging	0.69
R9565:Timm50	UTSW	7	28,007,069 (GRCm39)	missense	possibly damaging	0.69
R9697:Timm50	UTSW	7	28,010,350 (GRCm39)	missense	probably damaging	1.00
Z1177:Timm50	UTSW	7	28,006,993 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGAAAGTTCCAGAAGGCTC -3'
(R):5'- ATCTGGGAGTCTTTGCAAGGC -3'

Sequencing Primer
(F):5'- GTTCCAGAAGGCTCCAGGATACTC -3'
(R):5'- AGTCTTTGCAAGGCACGTC -3'

Posted On

2016-06-06