Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Timm44'

314039

Institutional Source

Beutler Lab

Gene Symbol

Timm44

Ensembl Gene

ENSMUSG00000002949

Gene Name

translocase of inner mitochondrial membrane 44

Synonyms

D8Ertd118e, Mimt44, 0710005E20Rik, Tim44

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309731-4325905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4310561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 397 (V397A)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003029] [ENSMUST00000011981] [ENSMUST00000053252] [ENSMUST00000208316] [ENSMUST00000208459]

AlphaFold

O35857

Predicted Effect

probably benign
Transcript: ENSMUST00000003029
AA Change: V397A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: V397A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000011981

SMART Domains

Protein: ENSMUSP00000011981
Gene: ENSMUSG00000011837

Domain	Start	End	E-Value	Type
Pfam:SnAPC_2_like	1	356	5.9e-144	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053252

SMART Domains

Protein: ENSMUSP00000057115
Gene: ENSMUSG00000048644

Domain	Start	End	E-Value	Type
Pfam:Cortexin	7	82	7.3e-44	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141195

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149827

Predicted Effect

probably benign
Transcript: ENSMUST00000208110

Predicted Effect

probably benign
Transcript: ENSMUST00000208316

Predicted Effect

probably benign
Transcript: ENSMUST00000208459

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

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
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Nfe2	C	T	15: 103,159,364 (GRCm39)	E36K	possibly damaging	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably 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
IGL02336:Timm44	APN	8	4,317,692 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TGGTCAGATGAAACGGTGC -3'
(R):5'- TACCATACCTTTAGCACGGC -3'

Sequencing Primer
(F):5'- CAGATGAAACGGTGCTCTGACTTC -3'
(R):5'- CTTTAGCACGGCAAAGTGTC -3'

Posted On

2015-04-30