Mutagenetix > Incidental Mutations

Incidental Mutation 'R5335:Timm44'

423476

Institutional Source

Beutler Lab

Gene Symbol

Timm44

Ensembl Gene

ENSMUSG00000002949

Gene Name

translocase of inner mitochondrial membrane 44

Synonyms

Mimt44, 0710005E20Rik, Tim44, D8Ertd118e

MMRRC Submission

042916-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R5335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4259731-4275913 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4266814 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 273 (I273N)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000003029
AA Change: I273N

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

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: I273N

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

Meta Mutation Damage Score

0.9268

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	A	G	19: 4,498,264	W86R	probably damaging	Het
Als2cr11b	T	A	1: 59,004,234		noncoding transcript	Het
Ankrd6	T	C	4: 32,818,651	E225G	probably damaging	Het
Armc4	A	T	18: 7,294,566	Y16N	probably benign	Het
Atxn10	A	G	15: 85,336,584		probably null	Het
Bcas2	A	G	3: 103,175,635	I146V	probably damaging	Het
Cachd1	G	A	4: 100,968,085	V579I	possibly damaging	Het
Col11a1	A	G	3: 114,095,240	T311A	unknown	Het
Cyp2c50	A	T	19: 40,090,616	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,307,352	H369R	probably damaging	Het
Dis3	A	G	14: 99,097,653	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,879,738	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,112,514	I541V	probably damaging	Het
Eif3i	T	C	4: 129,595,186	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689		probably benign	Het
Epc2	A	G	2: 49,513,230	N110S	probably benign	Het
Epha8	A	T	4: 136,931,935	L831Q	probably damaging	Het
Esd	G	T	14: 74,742,113	R119I	probably damaging	Het
F2	T	C	2: 91,634,932	K96E	possibly damaging	Het
Fcgbp	T	C	7: 28,089,734	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gemin6	T	C	17: 80,225,755	V39A	probably damaging	Het
Glmp	G	T	3: 88,326,655		probably benign	Het
Gm10306	C	A	4: 94,556,807		probably benign	Het
Gm4846	A	T	1: 166,497,453	L23*	probably null	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Grik1	CGG	CGGG	16: 87,923,194		probably null	Het
Ifi203	T	C	1: 173,926,919	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,794,246	A133S	probably benign	Het
Limch1	A	T	5: 66,881,957	I76F	probably damaging	Het
Mcph1	T	A	8: 18,689,061		probably null	Het
Myh7	A	G	14: 54,986,563		probably benign	Het
Olfr11	A	C	13: 21,638,779	V248G	probably damaging	Het
Olfr1106	T	G	2: 87,049,165	K24Q	probably damaging	Het
Olfr346	A	T	2: 36,688,094	I31F	probably benign	Het
Olfr54	A	C	11: 51,027,334	N111H	probably benign	Het
Olfr583	A	C	7: 103,051,535	D79A	probably damaging	Het
Olfr601	A	C	7: 103,358,522	L224R	probably damaging	Het
Olfr700	A	C	7: 106,805,734	S243A	probably damaging	Het
Opcml	A	G	9: 28,675,325	D113G	possibly damaging	Het
Pcdhb1	G	T	18: 37,267,255	C753F	probably benign	Het
Phip	T	C	9: 82,900,756	S879G	possibly damaging	Het
Pi4k2b	A	G	5: 52,741,756	D13G	possibly damaging	Het
Ptpn18	A	T	1: 34,463,178	I68F	probably damaging	Het
Rnf168	C	T	16: 32,298,584	T321I	possibly damaging	Het
Soga3	A	T	10: 29,147,106	I150L	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Srgap1	C	T	10: 121,785,377		probably benign	Het
Sry	A	T	Y: 2,663,647	H4Q	probably benign	Het
Taf2	G	A	15: 55,045,740	A703V	probably benign	Het
Taf5l	A	G	8: 124,003,651	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,063,067		probably null	Het
Tspan4	A	G	7: 141,489,615	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846		probably benign	Het
Urgcp	T	C	11: 5,717,754	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,328,191	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,807	I677K	probably damaging	Het
Zfp853	T	A	5: 143,288,563	H434L	unknown	Het

Other mutations in Timm44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Timm44	APN	8	4275888	utr 5 prime	probably benign
IGL01768:Timm44	APN	8	4266860	missense	probably benign	0.00
IGL02336:Timm44	APN	8	4267692	missense	probably damaging	1.00
R0505:Timm44	UTSW	8	4260532	nonsense	probably null
R0883:Timm44	UTSW	8	4266592	missense	probably benign
R1842:Timm44	UTSW	8	4260510	critical splice donor site	probably null
R1965:Timm44	UTSW	8	4260603	missense	possibly damaging	0.65
R2243:Timm44	UTSW	8	4267871	missense	possibly damaging	0.91
R2318:Timm44	UTSW	8	4268307	missense	probably benign	0.18
R2518:Timm44	UTSW	8	4266588	missense	probably null	1.00
R4049:Timm44	UTSW	8	4260561	missense	probably benign	0.00
R4489:Timm44	UTSW	8	4266654	missense	possibly damaging	0.48
R4803:Timm44	UTSW	8	4267932	missense	probably damaging	0.99
R5001:Timm44	UTSW	8	4275886	start codon destroyed	probably null	0.98
R5260:Timm44	UTSW	8	4275919	unclassified	probably null
R5502:Timm44	UTSW	8	4269992	missense	possibly damaging	0.93
R5602:Timm44	UTSW	8	4266769	critical splice donor site	probably null
R5700:Timm44	UTSW	8	4274171	missense	probably damaging	1.00
R6004:Timm44	UTSW	8	4267747	missense	probably benign	0.00
R6186:Timm44	UTSW	8	4266824	missense	probably damaging	1.00
R6524:Timm44	UTSW	8	4267988	missense	possibly damaging	0.68
R6823:Timm44	UTSW	8	4267282	missense	probably damaging	1.00
R6996:Timm44	UTSW	8	4266611	missense	possibly damaging	0.87
R7183:Timm44	UTSW	8	4267311	missense	probably damaging	0.98
Z1088:Timm44	UTSW	8	4268004	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCAAAGGTTGGGTCCACTC -3'
(R):5'- GGTAATCCCCATTCTGAGACG -3'

Sequencing Primer
(F):5'- AAAGGTTGGGTCCACTCTCAGG -3'
(R):5'- TAATCCCCATTCTGAGACGAGGAG -3'

Posted On

2016-08-04