Mutagenetix > Incidental Mutation

Incidental Mutation 'R5502:Timm44'

430676

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

043063-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R5502 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4309731-4325905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4319992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 59 (F59I)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

AlphaFold

O35857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003029
AA Change: F59I

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: F59I

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: ENSMUST00000157251

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160549

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161143

Meta Mutation Damage Score

0.8415

Coding Region Coverage

1x: 98.2%
3x: 97.3%
10x: 95.0%
20x: 90.2%

Validation Efficiency

98% (84/86)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc8	A	G	7: 45,758,262 (GRCm39)	I1268T	probably benign	Het
Accsl	C	T	2: 93,687,289 (GRCm39)		probably null	Het
Actmap	A	G	7: 26,896,542 (GRCm39)	D35G	possibly damaging	Het
Ank3	A	T	10: 69,756,291 (GRCm39)	I842F	probably benign	Het
Bbs9	T	A	9: 22,415,370 (GRCm39)	L98Q	probably damaging	Het
Bin2	A	G	15: 100,543,286 (GRCm39)	V299A	probably benign	Het
Cabp4	G	A	19: 4,181,228 (GRCm39)		probably benign	Het
Ces2f	A	T	8: 105,679,155 (GRCm39)	H324L	possibly damaging	Het
Chd4	G	A	6: 125,082,239 (GRCm39)	R576Q	possibly damaging	Het
Cndp1	A	G	18: 84,650,138 (GRCm39)	V185A	possibly damaging	Het
Cntn3	A	C	6: 102,242,295 (GRCm39)	V450G	possibly damaging	Het
Col5a2	C	A	1: 45,419,286 (GRCm39)	G1265W	probably damaging	Het
Corin	G	A	5: 72,473,449 (GRCm39)	Q754*	probably null	Het
Cyp4a10	A	G	4: 115,382,702 (GRCm39)	N291S	probably benign	Het
Dap3	T	C	3: 88,832,633 (GRCm39)	Y353C	probably damaging	Het
Disp1	A	G	1: 182,869,450 (GRCm39)	V990A	probably damaging	Het
Dock9	A	T	14: 121,847,594 (GRCm39)		probably null	Het
Dop1b	T	A	16: 93,590,114 (GRCm39)	V179E	probably benign	Het
Eps15l1	A	T	8: 73,132,836 (GRCm39)		probably null	Het
Fyb2	A	T	4: 104,802,521 (GRCm39)	Q141L	probably damaging	Het
Gemin4	A	T	11: 76,104,227 (GRCm39)	L178*	probably null	Het
Gm15446	A	T	5: 110,088,364 (GRCm39)	K25*	probably null	Het
Gm17067	A	T	7: 42,357,843 (GRCm39)	C220S	probably damaging	Het
Gm4868	A	G	5: 125,925,042 (GRCm39)		noncoding transcript	Het
Golga4	GT	GTT	9: 118,388,125 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,614,252 (GRCm39)	N596S	probably damaging	Het
Hoxb4	A	G	11: 96,211,057 (GRCm39)	D219G	probably damaging	Het
Htr1b	T	A	9: 81,513,854 (GRCm39)	Q251L	possibly damaging	Het
Ibtk	A	C	9: 85,602,916 (GRCm39)	S696R	probably benign	Het
Ide	C	A	19: 37,307,855 (GRCm39)	K52N	unknown	Het
Incenp	C	A	19: 9,870,728 (GRCm39)	L300F	unknown	Het
Ino80	T	C	2: 119,232,877 (GRCm39)	Y1147C	probably damaging	Het
Mme	T	A	3: 63,207,702 (GRCm39)	Y49*	probably null	Het
Mmp15	A	T	8: 96,094,812 (GRCm39)	T229S	possibly damaging	Het
Mtmr4	A	T	11: 87,504,904 (GRCm39)	N1133I	probably damaging	Het
Mycbp2	C	T	14: 103,411,250 (GRCm39)	G284R	probably damaging	Het
Myo3a	T	C	2: 22,448,381 (GRCm39)	I52T	probably damaging	Het
Nat8f5	G	T	6: 85,794,635 (GRCm39)	F108L	probably damaging	Het
Nbeal1	T	A	1: 60,350,158 (GRCm39)	H2402Q	probably damaging	Het
Nexn	T	A	3: 151,943,941 (GRCm39)	E331D	probably damaging	Het
Nktr	C	T	9: 121,577,672 (GRCm39)		probably benign	Het
Oaz3	T	C	3: 94,342,392 (GRCm39)	D88G	probably damaging	Het
Or1n1	T	C	2: 36,750,282 (GRCm39)	Y26C	probably damaging	Het
Or4l1	A	G	14: 50,166,993 (GRCm39)	Y3H	probably benign	Het
Pcdhb9	A	T	18: 37,534,656 (GRCm39)	T217S	possibly damaging	Het
Pcdhga2	A	T	18: 37,803,605 (GRCm39)	D483V	possibly damaging	Het
Pde5a	G	T	3: 122,596,681 (GRCm39)	G456V	probably damaging	Het
Qser1	T	C	2: 104,616,919 (GRCm39)	T1298A	probably benign	Het
Rapgef5	T	C	12: 117,685,064 (GRCm39)	V303A	probably damaging	Het
Rbbp6	T	G	7: 122,587,947 (GRCm39)	M267R	probably damaging	Het
Rfx8	C	A	1: 39,722,113 (GRCm39)	V291F	probably damaging	Het
Rnf121	T	C	7: 101,672,555 (GRCm39)	K276R	probably null	Het
Rtca	G	T	3: 116,282,931 (GRCm39)	Y352*	probably null	Het
Rusf1	C	T	7: 127,884,308 (GRCm39)	V225M	probably damaging	Het
Sacs	T	C	14: 61,443,549 (GRCm39)	V1865A	probably damaging	Het
Sclt1	C	T	3: 41,611,710 (GRCm39)	E521K	probably benign	Het
Setd1a	T	C	7: 127,396,420 (GRCm39)		probably null	Het
Slc37a4	G	T	9: 44,313,394 (GRCm39)	V337L	probably benign	Het
Slc5a9	G	T	4: 111,750,366 (GRCm39)	S79*	probably null	Het
Snrpd2	T	C	7: 18,885,247 (GRCm39)	V36A	probably benign	Het
Spata31d1b	A	T	13: 59,864,486 (GRCm39)	N545Y	probably damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
St7	G	A	6: 17,834,673 (GRCm39)	V98I	possibly damaging	Het
Strip2	A	T	6: 29,927,623 (GRCm39)	I223F	probably benign	Het
Syn2	A	C	6: 115,255,313 (GRCm39)	N542H	possibly damaging	Het
Tbc1d2b	T	C	9: 90,109,496 (GRCm39)	T327A	probably benign	Het
Tmem41b	A	T	7: 109,581,970 (GRCm39)	C44*	probably null	Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCA	11: 94,105,278 (GRCm39)		probably benign	Het
Tusc3	A	T	8: 39,597,947 (GRCm39)	K188*	probably null	Het
Usp39	T	A	6: 72,305,670 (GRCm39)	Q371L	probably benign	Het
Vmn2r13	G	T	5: 109,321,580 (GRCm39)	N372K	probably damaging	Het
Zfp961	T	A	8: 72,721,903 (GRCm39)	Y139N	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
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
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'- GCTCTGACACCTTTGAATCAGC -3'
(R):5'- GACATCTGTTCACTGTTAAACTCC -3'

Sequencing Primer
(F):5'- TGAATCAGCGCTATGACCTG -3'
(R):5'- TGTTAAACTCCGCTGTCAACAGAG -3'

Posted On

2016-10-05