Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:Timm50'

308760

Institutional Source

Beutler Lab

Gene Symbol

Timm50

Ensembl Gene

ENSMUSG00000003438

Gene Name

translocase of inner mitochondrial membrane 50

Synonyms

TIM50L, 2810403L02Rik

MMRRC Submission

040795-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28004941-28011497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 28010432 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 41 (A41S)

Ref Sequence

ENSEMBL: ENSMUSP00000080614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003527] [ENSMUST00000081946] [ENSMUST00000207563] [ENSMUST00000209141]

AlphaFold

Q9D880

Predicted Effect

probably benign
Transcript: ENSMUST00000003527

SMART Domains

Protein: ENSMUSP00000003527
Gene: ENSMUSG00000003435

Domain	Start	End	E-Value	Type
low complexity region	2	29	N/A	INTRINSIC
coiled coil region	36	63	N/A	INTRINSIC
Pfam:Spt5_N	73	170	8.1e-17	PFAM
NGN	174	265	2.2e-14	SMART
KOW	270	297	8.77e0	SMART
KOW	417	444	8.69e-4	SMART
KOW	469	496	9.1e-7	SMART
KOW	591	618	2.46e-3	SMART
low complexity region	677	695	N/A	INTRINSIC
KOW	697	724	3.93e-2	SMART
CTD	766	902	2.09e-31	SMART
KOW	1028	1055	9.69e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000081946
AA Change: A41S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: A41S

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000207563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207879

Predicted Effect

probably benign
Transcript: ENSMUST00000209141

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207649

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,548,417 (GRCm39)	K44T	possibly damaging	Het
4933402N03Rik	T	C	7: 130,740,823 (GRCm39)	E131G	probably benign	Het
Angptl4	G	A	17: 33,996,008 (GRCm39)	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,397 (GRCm39)	S201P	probably damaging	Het
Cep95	A	G	11: 106,697,118 (GRCm39)	I257V	probably damaging	Het
Clca4a	T	C	3: 144,663,079 (GRCm39)	N590S	probably benign	Het
Cyfip2	A	G	11: 46,099,162 (GRCm39)	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,502,818 (GRCm39)	Q136L	probably benign	Het
Def6	T	C	17: 28,439,189 (GRCm39)	C267R	probably damaging	Het
Dgat2	G	A	7: 98,818,950 (GRCm39)	Q69*	probably null	Het
Dlgap1	T	A	17: 71,093,810 (GRCm39)	S710R	probably damaging	Het
Dnah10	T	C	5: 124,850,095 (GRCm39)	I1539T	probably benign	Het
Dnah2	T	A	11: 69,342,173 (GRCm39)	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,783,088 (GRCm39)	S76P	probably damaging	Het
Esr2	T	C	12: 76,214,394 (GRCm39)	D19G	probably damaging	Het
Fam13b	A	T	18: 34,595,112 (GRCm39)		probably null	Het
Fbxw14	A	T	9: 109,100,262 (GRCm39)	V464D	possibly damaging	Het
Fcgbpl1	T	A	7: 27,839,463 (GRCm39)	C425*	probably null	Het
Gm21961	A	G	15: 64,886,716 (GRCm39)		probably null	Het
Gpd2	C	T	2: 57,228,987 (GRCm39)	R264*	probably null	Het
Hps5	A	G	7: 46,421,420 (GRCm39)	V648A	possibly damaging	Het
Ints4	A	G	7: 97,165,464 (GRCm39)	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,332,814 (GRCm39)	N1860S	probably benign	Het
Itsn2	G	A	12: 4,684,546 (GRCm39)		probably benign	Het
Jup	A	G	11: 100,269,207 (GRCm39)	V402A	probably benign	Het
Letm2	C	A	8: 26,083,884 (GRCm39)	E116*	probably null	Het
Ly6c1	T	C	15: 74,917,436 (GRCm39)	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,342,280 (GRCm39)	S1591N	probably benign	Het
Mier2	C	T	10: 79,384,584 (GRCm39)		probably null	Het
Mocs2	T	A	13: 114,955,882 (GRCm39)	L10*	probably null	Het
Myo6	A	G	9: 80,171,538 (GRCm39)	D513G	probably damaging	Het
Myoz2	T	C	3: 122,807,369 (GRCm39)	Y147C	probably damaging	Het
Nin	C	T	12: 70,089,315 (GRCm39)	V1367M	probably benign	Het
Nr2f6	C	T	8: 71,828,675 (GRCm39)	A200T	probably damaging	Het
Obscn	C	T	11: 58,947,775 (GRCm39)	C4418Y	probably damaging	Het
Or10ak9	A	G	4: 118,726,550 (GRCm39)	M191V	probably benign	Het
Or10q12	T	C	19: 13,746,144 (GRCm39)	V146A	probably benign	Het
Or5g26	T	A	2: 85,494,769 (GRCm39)	H3L	probably benign	Het
Paxip1	C	T	5: 27,953,837 (GRCm39)	R953Q	probably damaging	Het
Pcdha1	A	T	18: 37,064,454 (GRCm39)	I373F	possibly damaging	Het
Pcdha7	G	A	18: 37,108,432 (GRCm39)	E486K	probably benign	Het
Recql5	G	A	11: 115,784,780 (GRCm39)	P849L	probably benign	Het
Recql5	G	T	11: 115,784,781 (GRCm39)	P849T	probably benign	Het
Rnf180	A	T	13: 105,386,915 (GRCm39)	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,821,704 (GRCm39)	S3P	probably benign	Het
Rpp38	T	A	2: 3,330,283 (GRCm39)	R206S	probably benign	Het
Sdha	G	T	13: 74,487,311 (GRCm39)	P159Q	probably damaging	Het
Shank2	T	C	7: 143,959,121 (GRCm39)	V199A	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tmbim1	A	G	1: 74,329,157 (GRCm39)		probably benign	Het
Tmprss11a	C	T	5: 86,593,664 (GRCm39)	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,331,106 (GRCm39)	H411L	probably damaging	Het
Ube4b	A	T	4: 149,449,861 (GRCm39)		probably null	Het
Zdhhc22	T	A	12: 87,030,400 (GRCm39)	M183L	probably benign	Het
Zfp106	A	G	2: 120,362,630 (GRCm39)	S830P	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
R4604:Timm50	UTSW	7	28,010,443 (GRCm39)	missense	probably benign
R4947:Timm50	UTSW	7	28,009,469 (GRCm39)	unclassified	probably benign
R5010:Timm50	UTSW	7	28,006,284 (GRCm39)	missense	probably benign	0.07
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'- GGCCAACAGTCAAGGGTTATG -3'
(R):5'- AGACCTTGAGCAATTTGCCC -3'

Sequencing Primer
(F):5'- CAACAGTCAAGGGTTATGTCTCTCAC -3'
(R):5'- GAACCCCTGTGATTCTCTAGACAG -3'

Posted On

2015-04-17