Mutagenetix > Incidental Mutation

Incidental Mutation 'R4604:Timm50'

500692

Institutional Source

Beutler Lab

Gene Symbol

Timm50

Ensembl Gene

ENSMUSG00000003438

Gene Name

translocase of inner mitochondrial membrane 50

Synonyms

TIM50L, 2810403L02Rik

MMRRC Submission

041816-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28004941-28011497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28010443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 37 (V37A)

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: V37A

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

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: V37A

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

noncoding transcript
Transcript: ENSMUST00000207649

Predicted Effect

probably benign
Transcript: ENSMUST00000209141

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930518I15Rik	C	T	2: 156,699,074 (GRCm39)		probably benign	Het
Abcb6	G	A	1: 75,156,521 (GRCm39)	T81I	probably benign	Het
Acp6	A	G	3: 97,083,075 (GRCm39)	K362R	probably benign	Het
Adam26a	A	G	8: 44,023,088 (GRCm39)	M134T	probably benign	Het
Ankrd27	C	T	7: 35,327,915 (GRCm39)	P812S	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp2a1	G	A	7: 126,047,795 (GRCm39)	R672C	probably damaging	Het
Atxn2	G	T	5: 121,919,406 (GRCm39)	W371C	probably damaging	Het
B3gnt2	T	TTCACAAA	11: 22,786,426 (GRCm39)		probably null	Het
Btnl6	T	A	17: 34,727,435 (GRCm39)	D365V	possibly damaging	Het
Ccdc80	T	A	16: 44,915,928 (GRCm39)	L228Q	probably damaging	Het
Cdc42bpa	A	G	1: 179,936,759 (GRCm39)	H718R	probably benign	Het
Cdh18	A	G	15: 23,474,454 (GRCm39)	K775E	probably benign	Het
Cdh23	T	G	10: 60,173,445 (GRCm39)	N1679T	possibly damaging	Het
Cep192	T	A	18: 67,948,993 (GRCm39)	D271E	possibly damaging	Het
Cfap70	G	T	14: 20,493,729 (GRCm39)	T124K	probably benign	Het
Ckap5	A	T	2: 91,408,476 (GRCm39)	E890D	probably benign	Het
Col22a1	G	T	15: 71,824,188 (GRCm39)	P569T	probably benign	Het
Colq	A	T	14: 31,267,060 (GRCm39)	L150Q	possibly damaging	Het
Csf1	T	C	3: 107,664,278 (GRCm39)		probably null	Het
Csmd3	A	T	15: 47,868,211 (GRCm39)	S770T	possibly damaging	Het
Cul9	C	A	17: 46,841,072 (GRCm39)	V733L	probably damaging	Het
Cyp2c55	A	G	19: 39,019,830 (GRCm39)	D256G	possibly damaging	Het
Dclk3	A	T	9: 111,298,253 (GRCm39)	D599V	probably damaging	Het
Defb26	T	A	2: 152,350,104 (GRCm39)	I59F	possibly damaging	Het
Dnah6	A	G	6: 73,106,643 (GRCm39)	V1646A	possibly damaging	Het
Dnm2	T	C	9: 21,415,960 (GRCm39)		probably null	Het
Dock6	A	G	9: 21,713,836 (GRCm39)	L1867P	probably damaging	Het
Dock9	G	T	14: 121,905,871 (GRCm39)	T93K	probably damaging	Het
Dync2h1	T	C	9: 7,140,995 (GRCm39)	H1344R	probably benign	Het
Enam	A	C	5: 88,652,142 (GRCm39)	Q1217P	possibly damaging	Het
Fbf1	A	T	11: 116,049,748 (GRCm39)	D91E	possibly damaging	Het
Fbxo7	T	G	10: 85,882,666 (GRCm39)	W393G	probably damaging	Het
Gab2	A	G	7: 96,953,420 (GRCm39)	T599A	probably damaging	Het
Gfy	T	A	7: 44,826,612 (GRCm39)	I409F	possibly damaging	Het
Gm19345	T	A	7: 19,591,433 (GRCm39)		probably null	Het
Gm4787	A	G	12: 81,425,987 (GRCm39)	M57T	probably benign	Het
Gper1	A	G	5: 139,412,480 (GRCm39)	E275G	probably damaging	Het
Grik4	T	C	9: 42,435,882 (GRCm39)	E803G	probably damaging	Het
Gstm3	G	A	3: 107,875,513 (GRCm39)	P39L	possibly damaging	Het
Hax1	A	T	3: 89,904,767 (GRCm39)	V142D	probably damaging	Het
Hcn3	A	T	3: 89,057,747 (GRCm39)	I383N	probably damaging	Het
Hdac10	C	A	15: 89,009,600 (GRCm39)		probably null	Het
Hipk3	A	C	2: 104,269,674 (GRCm39)	M505R	probably damaging	Het
Hivep1	C	T	13: 42,313,225 (GRCm39)	P1822S	probably benign	Het
Hsd17b13	G	T	5: 104,104,124 (GRCm39)	H281N	unknown	Het
Ilrun	T	C	17: 28,039,289 (GRCm39)	D7G	probably damaging	Het
Irak2	T	A	6: 113,649,848 (GRCm39)	I222N	probably damaging	Het
Kalrn	G	A	16: 34,334,296 (GRCm39)	L7F	possibly damaging	Het
Kcnma1	A	G	14: 23,359,106 (GRCm39)		probably null	Het
Kcnn3	G	T	3: 89,427,727 (GRCm39)		probably benign	Het
Lamb1	A	C	12: 31,328,775 (GRCm39)	D218A	probably damaging	Het
Lrrtm1	A	T	6: 77,221,127 (GRCm39)	N195Y	probably damaging	Het
Ltf	A	T	9: 110,851,409 (GRCm39)	N72I	probably damaging	Het
Mcm4	A	G	16: 15,447,527 (GRCm39)	I479T	probably damaging	Het
Mfhas1	T	C	8: 36,055,764 (GRCm39)	S80P	probably benign	Het
Mknk1	A	G	4: 115,735,224 (GRCm39)	E364G	probably damaging	Het
Msh4	C	T	3: 153,577,920 (GRCm39)	C458Y	probably damaging	Het
Mtrr	A	T	13: 68,712,631 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,547,007 (GRCm39)	W356R	probably damaging	Het
Nbea	A	G	3: 55,631,069 (GRCm39)	V2186A	probably benign	Het
Nfe2l3	T	C	6: 51,427,992 (GRCm39)	S185P	probably damaging	Het
Nhsl1	A	C	10: 18,407,158 (GRCm39)	K1397Q	probably damaging	Het
Nmbr	C	T	10: 14,645,908 (GRCm39)	R261W	probably damaging	Het
Npy2r	A	G	3: 82,448,365 (GRCm39)	S137P	probably damaging	Het
Obscn	C	T	11: 58,971,031 (GRCm39)	G2494D	probably damaging	Het
Obscn	T	C	11: 59,013,572 (GRCm39)	K1092E	probably damaging	Het
Oosp2	A	C	19: 11,627,047 (GRCm39)	I92S	probably benign	Het
Or5ar1	C	T	2: 85,671,526 (GRCm39)	C203Y	probably damaging	Het
Pcdh9	T	C	14: 94,124,616 (GRCm39)	D518G	probably damaging	Het
Pde11a	G	T	2: 76,168,137 (GRCm39)	T272K	possibly damaging	Het
Plekha2	T	A	8: 25,549,851 (GRCm39)	Q162L	probably null	Het
Prkag2	T	A	5: 25,083,732 (GRCm39)	I84F	probably damaging	Het
Prm2	G	T	16: 10,609,613 (GRCm39)		probably benign	Het
Prpf40a	A	T	2: 53,032,035 (GRCm39)	C800S	probably damaging	Het
Prr5l	A	T	2: 101,559,793 (GRCm39)	C158S	probably benign	Het
Prrt3	C	A	6: 113,475,198 (GRCm39)	C8F	possibly damaging	Het
Psg25	T	C	7: 18,263,728 (GRCm39)	T32A	probably benign	Het
Ruvbl1	T	C	6: 88,462,887 (GRCm39)	V337A	probably benign	Het
Sall1	T	A	8: 89,756,969 (GRCm39)	Q1045L	probably damaging	Het
Sec22c	T	C	9: 121,524,708 (GRCm39)	Y25C	probably damaging	Het
Serpina3i	A	T	12: 104,234,036 (GRCm39)	T335S	possibly damaging	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc12a8	T	A	16: 33,428,529 (GRCm39)	I279N	probably damaging	Het
Slc15a1	G	A	14: 121,727,319 (GRCm39)	T83I	probably damaging	Het
Slc22a3	A	G	17: 12,678,658 (GRCm39)	F222S	probably benign	Het
Sorcs3	A	T	19: 48,682,353 (GRCm39)	T463S	probably benign	Het
Spsb4	C	A	9: 96,877,931 (GRCm39)	A131S	probably benign	Het
Sting1	T	A	18: 35,871,743 (GRCm39)	I170F	probably damaging	Het
Syne2	A	G	12: 76,014,484 (GRCm39)	E3225G	probably damaging	Het
Tchp	G	A	5: 114,857,634 (GRCm39)		probably null	Het
Tekt4	T	A	17: 25,690,749 (GRCm39)	D18E	probably benign	Het
Tlx2	A	C	6: 83,045,741 (GRCm39)	*285G	probably null	Het
Tshz1	C	A	18: 84,031,499 (GRCm39)	D970Y	probably damaging	Het
Ttn	A	T	2: 76,700,805 (GRCm39)	V50E	probably damaging	Het
Txndc17	T	A	11: 72,100,274 (GRCm39)	S113T	probably benign	Het
Tyk2	T	C	9: 21,019,305 (GRCm39)	Y1039C	probably damaging	Het
Ubqln3	A	G	7: 103,791,698 (GRCm39)	S131P	probably benign	Het
Uncx	A	T	5: 139,529,837 (GRCm39)	H30L	possibly damaging	Het
Usp25	T	A	16: 76,912,303 (GRCm39)	D1007E	probably damaging	Het
Usp47	T	C	7: 111,701,038 (GRCm39)	V1083A	probably damaging	Het
Wdr24	T	A	17: 26,047,479 (GRCm39)	H765Q	probably damaging	Het
Wrnip1	A	G	13: 32,986,330 (GRCm39)	D37G	probably damaging	Het
Xpo6	T	C	7: 125,712,924 (GRCm39)	T686A	possibly damaging	Het
Zfp941	G	A	7: 140,392,124 (GRCm39)	R412C	probably damaging	Het
Znrf2	T	A	6: 54,855,425 (GRCm39)	C71*	probably null	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
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'- GGTTCACAGTAGAAATCTGGGG -3'
(R):5'- TCAGCTCTTGAACCCCTGTG -3'

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

Posted On

2017-12-01