Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02336:Timm44'

288861

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timm44

Ensembl Gene

ENSMUSG00000002949

Gene Name

translocase of inner mitochondrial membrane 44

Synonyms

D8Ertd118e, Mimt44, 0710005E20Rik, Tim44

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL02336

Quality Score

Status

Chromosome

Chromosomal Location

4309731-4325905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4317692 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 210 (R210W)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003029]

AlphaFold

O35857

Predicted Effect

probably damaging
Transcript: ENSMUST00000003029
AA Change: R210W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: R210W

Domain	Start	End	E-Value	Type
coiled coil region	60	117	N/A	INTRINSIC
Tim44	296	445	9.67e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161143

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a peripheral membrane protein associated with the mitochondrial inner membrane translocase, which functions in the import of proteins across the mitochondrial inner membrane and into the mitochondrial matrix. The encoded protein mediates binding of mitochondrial heat shock protein 70 to the translocase of inner mitochondrial membrane 23 (TIM23) complex. Expression of this gene is upregulated in kidney in a mouse model of diabetes. A mutation in this gene is associated with familial oncocytic thyroid carcinoma. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accsl	A	G	2: 93,696,253 (GRCm39)	V119A	possibly damaging	Het
Adamts12	T	A	15: 11,311,331 (GRCm39)	M1196K	probably benign	Het
Adgre1	T	A	17: 57,718,024 (GRCm39)	C345*	probably null	Het
Adrb2	T	C	18: 62,312,078 (GRCm39)	E249G	probably benign	Het
Amdhd1	T	A	10: 93,360,291 (GRCm39)	I423F	probably benign	Het
Ankhd1	A	G	18: 36,727,867 (GRCm39)	N501S	probably damaging	Het
Bltp2	T	C	11: 78,179,858 (GRCm39)	V2127A	probably damaging	Het
Cd180	T	A	13: 102,841,821 (GRCm39)	I289N	probably damaging	Het
Chst5	T	A	8: 112,616,949 (GRCm39)	I224F	probably damaging	Het
Cox6a2	A	G	7: 127,805,103 (GRCm39)	I60T	possibly damaging	Het
Dnajc6	C	T	4: 101,471,483 (GRCm39)		probably null	Het
Dpp6	G	A	5: 27,674,409 (GRCm39)	E179K	probably benign	Het
Fasn	G	A	11: 120,704,562 (GRCm39)	T1341I	possibly damaging	Het
Fat1	C	T	8: 45,404,620 (GRCm39)	T457I	probably benign	Het
Filip1l	A	T	16: 57,392,096 (GRCm39)		probably null	Het
Gje1	A	T	10: 14,592,413 (GRCm39)	I123N	probably damaging	Het
Gli3	A	G	13: 15,894,874 (GRCm39)	T683A	probably damaging	Het
Gm29326	C	A	7: 29,260,833 (GRCm39)		noncoding transcript	Het
Gm5460	A	G	14: 33,765,909 (GRCm39)		probably benign	Het
Hspa4	C	T	11: 53,153,200 (GRCm39)	S739N	probably benign	Het
Ighv1-42	T	A	12: 114,900,885 (GRCm39)	I67F	probably damaging	Het
Iqgap1	A	G	7: 80,402,041 (GRCm39)	V408A	probably benign	Het
Kdm7a	A	T	6: 39,147,198 (GRCm39)	W250R	probably damaging	Het
Kif5a	A	G	10: 127,078,565 (GRCm39)	I360T	possibly damaging	Het
Maml1	T	C	11: 50,148,992 (GRCm39)	N916S	probably benign	Het
Mier2	A	T	10: 79,384,184 (GRCm39)		probably benign	Het
Mpst	A	T	15: 78,294,474 (GRCm39)	T69S	probably benign	Het
Nlk	C	A	11: 78,477,763 (GRCm39)	V327F	probably damaging	Het
Nme5	A	T	18: 34,711,730 (GRCm39)	S4T	probably benign	Het
Notch2	A	G	3: 98,045,711 (GRCm39)	I1625M	possibly damaging	Het
Nup210l	T	C	3: 90,088,859 (GRCm39)		probably null	Het
Oas1d	A	G	5: 121,057,111 (GRCm39)	E239G	probably damaging	Het
Olfm4	T	C	14: 80,243,761 (GRCm39)	S110P	probably damaging	Het
Or52e2	T	C	7: 102,804,772 (GRCm39)	M61V	probably benign	Het
Parn	T	A	16: 13,384,567 (GRCm39)	I499F	probably damaging	Het
Ppargc1a	G	A	5: 51,653,068 (GRCm39)	Q165*	probably null	Het
Ppp1r12b	T	A	1: 134,814,244 (GRCm39)	E353V	probably damaging	Het
Prkdc	A	G	16: 15,603,842 (GRCm39)	Q2952R	possibly damaging	Het
Prkdc	G	T	16: 15,603,843 (GRCm39)	Q2952H	probably benign	Het
Qars1	G	T	9: 108,392,185 (GRCm39)	E143*	probably null	Het
Reln	A	G	5: 22,134,132 (GRCm39)	Y2599H	probably damaging	Het
Rnf123	T	C	9: 107,939,041 (GRCm39)	E803G	probably damaging	Het
Rnf141	G	A	7: 110,436,405 (GRCm39)	Q8*	probably null	Het
Rnf167	A	G	11: 70,540,952 (GRCm39)	I193V	probably benign	Het
Rprd2	A	T	3: 95,694,622 (GRCm39)	M137K	probably benign	Het
Rtf1	T	G	2: 119,559,226 (GRCm39)		probably benign	Het
Serpina1d	T	A	12: 103,731,055 (GRCm39)	R308*	probably null	Het
Smg7	T	C	1: 152,719,030 (GRCm39)	Y899C	probably benign	Het
Tbr1	C	A	2: 61,635,336 (GRCm39)	H95Q	possibly damaging	Het
Tcf19	A	T	17: 35,825,380 (GRCm39)		probably null	Het
Trnau1ap	C	A	4: 132,041,331 (GRCm39)	E194*	probably null	Het
Trp63	G	A	16: 25,639,192 (GRCm39)	G127S	probably damaging	Het
Trrap	C	T	5: 144,735,200 (GRCm39)	A989V	probably benign	Het
Ttn	T	C	2: 76,600,326 (GRCm39)	D18988G	probably damaging	Het
Tubb4b-ps1	T	A	5: 7,229,952 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn1r80	A	G	7: 11,927,181 (GRCm39)	Y97C	probably benign	Het
Vmn2r77	G	A	7: 86,451,224 (GRCm39)	C370Y	probably damaging	Het
Xntrpc	C	A	7: 101,733,492 (GRCm39)	A147D	probably damaging	Het
Zc3h4	C	T	7: 16,159,702 (GRCm39)	S424F	unknown	Het
Zcwpw1	T	A	5: 137,808,376 (GRCm39)	S275T	probably damaging	Het
Zfp979	C	T	4: 147,699,808 (GRCm39)	C44Y	probably damaging	Het
Zscan20	T	C	4: 128,479,587 (GRCm39)	H968R	probably damaging	Het
Zswim3	T	C	2: 164,662,297 (GRCm39)	V259A	probably damaging	Het
Zzz3	T	G	3: 152,133,696 (GRCm39)	D251E	possibly damaging	Het

Other mutations in Timm44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Timm44	APN	8	4,325,888 (GRCm39)	utr 5 prime	probably benign
IGL01768:Timm44	APN	8	4,316,860 (GRCm39)	missense	probably benign	0.00
lassie	UTSW	8	4,310,621 (GRCm39)	missense	probably damaging	1.00
Togo	UTSW	8	4,320,019 (GRCm39)	missense	probably benign	0.10
R0505:Timm44	UTSW	8	4,310,532 (GRCm39)	nonsense	probably null
R0883:Timm44	UTSW	8	4,316,592 (GRCm39)	missense	probably benign
R1842:Timm44	UTSW	8	4,310,510 (GRCm39)	critical splice donor site	probably null
R1965:Timm44	UTSW	8	4,310,603 (GRCm39)	missense	possibly damaging	0.65
R2243:Timm44	UTSW	8	4,317,871 (GRCm39)	missense	possibly damaging	0.91
R2318:Timm44	UTSW	8	4,318,307 (GRCm39)	missense	probably benign	0.18
R2518:Timm44	UTSW	8	4,316,588 (GRCm39)	missense	probably null	1.00
R4049:Timm44	UTSW	8	4,310,561 (GRCm39)	missense	probably benign	0.00
R4489:Timm44	UTSW	8	4,316,654 (GRCm39)	missense	possibly damaging	0.48
R4803:Timm44	UTSW	8	4,317,932 (GRCm39)	missense	probably damaging	0.99
R5001:Timm44	UTSW	8	4,325,886 (GRCm39)	start codon destroyed	probably null	0.98
R5260:Timm44	UTSW	8	4,325,919 (GRCm39)	splice site	probably null
R5335:Timm44	UTSW	8	4,316,814 (GRCm39)	missense	probably damaging	1.00
R5502:Timm44	UTSW	8	4,319,992 (GRCm39)	missense	possibly damaging	0.93
R5602:Timm44	UTSW	8	4,316,769 (GRCm39)	critical splice donor site	probably null
R5700:Timm44	UTSW	8	4,324,171 (GRCm39)	missense	probably damaging	1.00
R6004:Timm44	UTSW	8	4,317,747 (GRCm39)	missense	probably benign	0.00
R6186:Timm44	UTSW	8	4,316,824 (GRCm39)	missense	probably damaging	1.00
R6524:Timm44	UTSW	8	4,317,988 (GRCm39)	missense	possibly damaging	0.68
R6823:Timm44	UTSW	8	4,317,282 (GRCm39)	missense	probably damaging	1.00
R6996:Timm44	UTSW	8	4,316,611 (GRCm39)	missense	possibly damaging	0.87
R7183:Timm44	UTSW	8	4,317,311 (GRCm39)	missense	probably damaging	0.98
R7844:Timm44	UTSW	8	4,319,976 (GRCm39)	missense	possibly damaging	0.71
R8209:Timm44	UTSW	8	4,316,844 (GRCm39)	missense	probably benign	0.02
R8532:Timm44	UTSW	8	4,310,549 (GRCm39)	missense	possibly damaging	0.63
R8785:Timm44	UTSW	8	4,320,019 (GRCm39)	missense	probably benign	0.10
R9003:Timm44	UTSW	8	4,324,204 (GRCm39)	missense	possibly damaging	0.89
R9262:Timm44	UTSW	8	4,310,621 (GRCm39)	missense	probably damaging	1.00
R9537:Timm44	UTSW	8	4,310,576 (GRCm39)	missense	possibly damaging	0.90
R9759:Timm44	UTSW	8	4,317,707 (GRCm39)	nonsense	probably null
Z1088:Timm44	UTSW	8	4,318,004 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16