Mutagenetix > Incidental Mutation

Incidental Mutation 'R9697:Timm50'

729369

Institutional Source

Beutler Lab

Gene Symbol

Timm50

Ensembl Gene

ENSMUSG00000003438

Gene Name

translocase of inner mitochondrial membrane 50

Synonyms

TIM50L, 2810403L02Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9697 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28004941-28011497 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28010350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 68 (L68P)

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 damaging
Transcript: ENSMUST00000081946
AA Change: L68P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000080614
Gene: ENSMUSG00000003438
AA Change: L68P

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: ENSMUST00000207563

Predicted Effect

probably benign
Transcript: ENSMUST00000209141

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.0%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	T	17: 15,163,769 (GRCm39)		probably benign	Het
9330182O14Rik	C	T	15: 40,005,500 (GRCm39)		probably benign	Het
Adamts19	C	A	18: 59,101,834 (GRCm39)	P635T	probably damaging	Het
Adgrf1	T	C	17: 43,625,362 (GRCm39)	W857R	possibly damaging	Het
Ak9	T	G	10: 41,298,968 (GRCm39)	Y1556*	probably null	Het
Ang2	T	C	14: 51,433,326 (GRCm39)	I19V	probably benign	Het
Ano3	T	A	2: 110,496,253 (GRCm39)	T834S	probably damaging	Het
As3mt	A	T	19: 46,708,420 (GRCm39)	I236F	probably benign	Het
Asns	A	T	6: 7,689,268 (GRCm39)	I78N	probably damaging	Het
Bet1	G	A	6: 4,082,471 (GRCm39)	T44M	probably damaging	Het
Cabyr	T	C	18: 12,884,407 (GRCm39)	V298A	possibly damaging	Het
Cacna1c	A	G	6: 118,589,598 (GRCm39)	V1601A		Het
Ccni	A	T	5: 93,350,201 (GRCm39)	M26K	probably damaging	Het
Cdhr2	T	C	13: 54,867,679 (GRCm39)	I503T	probably damaging	Het
Cfap54	T	C	10: 92,792,851 (GRCm39)	K1754R	unknown	Het
Cfap69	A	G	5: 5,676,041 (GRCm39)	V218A	possibly damaging	Het
Clcn3	A	G	8: 61,372,518 (GRCm39)	L741P	probably damaging	Het
Cntnap1	T	C	11: 101,068,828 (GRCm39)	F124L	possibly damaging	Het
Col20a1	G	A	2: 180,641,577 (GRCm39)	G673D	probably benign	Het
Col4a2	A	G	8: 11,487,628 (GRCm39)	I977V	probably benign	Het
Cyp3a59	A	T	5: 146,031,190 (GRCm39)	I118F	probably damaging	Het
Dgcr8	A	T	16: 18,098,283 (GRCm39)	D369E	probably benign	Het
Dhtkd1	T	C	2: 5,919,651 (GRCm39)	T577A	probably benign	Het
Dock2	A	T	11: 34,204,417 (GRCm39)	M1375K	probably benign	Het
Fa2h	G	A	8: 112,074,659 (GRCm39)	H315Y	probably damaging	Het
Foxd2	G	A	4: 114,765,684 (GRCm39)	P112L	unknown	Het
Gin1	A	G	1: 97,712,897 (GRCm39)	I317V	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
H2-T3	T	A	17: 36,500,744 (GRCm39)	Y33F	probably damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,263,874 (GRCm39)	W145*	probably null	Het
Il6ra	A	G	3: 89,785,219 (GRCm39)	V330A	probably benign	Het
Impdh2	T	C	9: 108,438,847 (GRCm39)	S67P	possibly damaging	Het
Ltbp3	T	A	19: 5,792,521 (GRCm39)	S85T	probably benign	Het
Magi3	A	G	3: 103,956,458 (GRCm39)		probably null	Het
Mettl4	T	A	17: 95,034,806 (GRCm39)	I430F	probably damaging	Het
Mmd	T	A	11: 90,167,579 (GRCm39)	F203I	probably damaging	Het
Nlgn1	T	C	3: 25,494,035 (GRCm39)	T305A	possibly damaging	Het
Ntn1	A	G	11: 68,168,356 (GRCm39)	V367A	probably damaging	Het
Or2w1b	A	T	13: 21,299,892 (GRCm39)	H10L	probably benign	Het
Or5b107	G	A	19: 13,142,888 (GRCm39)	C170Y	possibly damaging	Het
Pcdh12	T	C	18: 38,415,022 (GRCm39)	H701R	possibly damaging	Het
Pcgf3	G	A	5: 108,621,773 (GRCm39)		probably null	Het
Pik3c2g	G	A	6: 139,913,517 (GRCm39)	V972M	unknown	Het
Pink1	A	G	4: 138,041,323 (GRCm39)	C563R	possibly damaging	Het
Prol1	A	T	5: 88,466,426 (GRCm39)	N3I	probably benign	Het
Ptpro	T	G	6: 137,363,288 (GRCm39)	I474S	probably damaging	Het
Rabgef1	A	G	5: 130,241,781 (GRCm39)	E395G	probably benign	Het
Rpgrip1l	G	T	8: 91,987,391 (GRCm39)	H889N	possibly damaging	Het
Sapcd2	T	A	2: 25,262,925 (GRCm39)	C161*	probably null	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,452,391 (GRCm39)		probably benign	Het
Spen	A	G	4: 141,196,275 (GRCm39)	L3625P	probably damaging	Het
Stil	T	C	4: 114,878,701 (GRCm39)	I379T	probably benign	Het
Stim1	A	G	7: 102,078,014 (GRCm39)	D172G		Het
Tlr9	C	T	9: 106,100,723 (GRCm39)	R5*	probably null	Het
Top1mt	A	T	15: 75,547,874 (GRCm39)	Y71N	probably damaging	Het
Trpv4	A	G	5: 114,771,285 (GRCm39)	Y415H	possibly damaging	Het
Try10	C	T	6: 41,331,041 (GRCm39)		probably benign	Het
Uhrf2	A	G	19: 30,063,780 (GRCm39)	E581G	probably damaging	Het
Usp17lb	G	A	7: 104,490,495 (GRCm39)	T144I	possibly damaging	Het
Vmn1r64	T	C	7: 5,886,859 (GRCm39)	N228S	probably benign	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	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
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
Z1177:Timm50	UTSW	7	28,006,993 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTTTTAAGTACAAGGGGTCGAAG -3'
(R):5'- TCTGGATGTCCACTTCCTGG -3'

Sequencing Primer
(F):5'- GTCGAAGAGGACTTCTTGAATTTC -3'
(R):5'- CACTTCCTGGTTCTTGATCTTGAGG -3'

Posted On

2022-10-06