Mutagenetix > Incidental Mutation

Incidental Mutation 'R0883:Timm44'

80827

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

039050-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R0883 (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 4266592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 317 (H317Q)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

AlphaFold

O35857

Predicted Effect

probably benign
Transcript: ENSMUST00000003029
AA Change: H317Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: H317Q

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

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

98% (148/151)

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: 150 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 138,069,871 (GRCm38)	L1607P	probably damaging	Het
1700016H13Rik	T	C	5: 103,648,821 (GRCm38)	*118W	probably null	Het
1700061G19Rik	A	T	17: 56,883,835 (GRCm38)	N468Y	probably benign	Het
4930595M18Rik	G	T	X: 81,420,931 (GRCm38)	T390N	possibly damaging	Het
Abca13	C	T	11: 9,291,238 (GRCm38)	Q1034*	probably null	Het
Adgra3	T	C	5: 49,960,723 (GRCm38)	H1161R	probably damaging	Het
AF529169	T	C	9: 89,602,417 (GRCm38)	H309R	probably benign	Het
Aff1	T	C	5: 103,826,138 (GRCm38)		probably benign	Het
Agap2	A	G	10: 127,091,702 (GRCm38)	T1131A	possibly damaging	Het
Ankrd12	A	G	17: 65,985,132 (GRCm38)	V1102A	probably benign	Het
Ankrd54	A	T	15: 79,062,731 (GRCm38)	C23S	probably damaging	Het
Anxa10	C	T	8: 62,077,967 (GRCm38)	V70I	probably benign	Het
Asap3	T	C	4: 136,234,325 (GRCm38)		probably benign	Het
Asb13	T	C	13: 3,645,052 (GRCm38)		probably null	Het
Atp6v1a	A	T	16: 44,101,692 (GRCm38)		probably benign	Het
Atp8b1	T	G	18: 64,564,541 (GRCm38)	I411L	probably benign	Het
Baiap3	T	A	17: 25,249,101 (GRCm38)	N313I	probably damaging	Het
Bok	T	C	1: 93,686,487 (GRCm38)	I14T	probably benign	Het
Bri3bp	T	A	5: 125,441,744 (GRCm38)		probably null	Het
C2cd2l	A	G	9: 44,316,202 (GRCm38)	L186P	probably damaging	Het
Cadm2	A	T	16: 66,882,814 (GRCm38)	C44S	probably damaging	Het
Capn11	T	C	17: 45,638,881 (GRCm38)		probably benign	Het
Carm1	T	A	9: 21,569,591 (GRCm38)		probably benign	Het
Ccdc189	T	C	7: 127,584,862 (GRCm38)	E261G	probably damaging	Het
Ccdc27	T	C	4: 154,036,484 (GRCm38)	E285G	unknown	Het
Cct3	T	A	3: 88,313,557 (GRCm38)	D298E	probably damaging	Het
Cd59b	T	A	2: 104,080,986 (GRCm38)		probably benign	Het
Cdh2	T	C	18: 16,629,576 (GRCm38)	N437S	probably benign	Het
Celsr3	T	A	9: 108,842,633 (GRCm38)	I2470N	probably damaging	Het
Cfap100	G	A	6: 90,415,906 (GRCm38)		probably benign	Het
Cfap45	A	T	1: 172,532,189 (GRCm38)	R98S	possibly damaging	Het
Cfap54	T	A	10: 92,870,669 (GRCm38)	H2757L	unknown	Het
Chd1	C	A	17: 15,725,431 (GRCm38)	N72K	probably benign	Het
Cntn4	A	T	6: 106,667,540 (GRCm38)		probably benign	Het
Cstf2t	A	T	19: 31,084,626 (GRCm38)	M521L	probably benign	Het
Daam2	A	T	17: 49,498,883 (GRCm38)		probably benign	Het
Ddias	A	T	7: 92,859,337 (GRCm38)	W457R	probably benign	Het
Ddr2	C	T	1: 169,994,629 (GRCm38)	V417I	probably benign	Het
Dhx57	T	C	17: 80,270,371 (GRCm38)	T570A	probably damaging	Het
Dmp1	A	G	5: 104,207,630 (GRCm38)	E32G	possibly damaging	Het
Dtymk	C	T	1: 93,801,788 (GRCm38)	V14M	possibly damaging	Het
Dync2li1	G	A	17: 84,649,271 (GRCm38)	M286I	probably benign	Het
Eea1	G	A	10: 96,021,667 (GRCm38)	D664N	possibly damaging	Het
Esp6	G	T	17: 40,565,396 (GRCm38)	V112L	probably benign	Het
Fam83h	G	T	15: 76,006,169 (GRCm38)	Q127K	probably damaging	Het
Gabbr2	G	A	4: 46,677,474 (GRCm38)	T802I	probably benign	Het
Gart	C	A	16: 91,623,403 (GRCm38)	D851Y	possibly damaging	Het
Gemin6	T	A	17: 80,228,095 (GRCm38)	H161Q	probably damaging	Het
Gm10912	T	C	2: 104,066,530 (GRCm38)	S5P	probably benign	Het
Gm4907	A	T	X: 23,907,051 (GRCm38)	I264F	probably benign	Het
Gm5941	G	A	X: 92,490,211 (GRCm38)	A62T	possibly damaging	Het
Gng2	G	T	14: 19,891,295 (GRCm38)	D26E	probably benign	Het
Gpr33	A	G	12: 52,023,635 (GRCm38)	V207A	probably benign	Het
Gstm3	T	A	3: 107,966,270 (GRCm38)		probably benign	Het
Havcr1	T	C	11: 46,752,432 (GRCm38)	C60R	probably damaging	Het
Hspg2	T	C	4: 137,541,440 (GRCm38)	S2157P	probably benign	Het
Ift140	A	G	17: 25,090,933 (GRCm38)	T1105A	probably benign	Het
Igsf8	C	A	1: 172,316,259 (GRCm38)	A56D	possibly damaging	Het
Kat6a	G	T	8: 22,862,214 (GRCm38)	A5S	probably damaging	Het
Kctd16	A	G	18: 40,530,775 (GRCm38)	E319G	probably damaging	Het
Kmo	T	C	1: 175,647,140 (GRCm38)	V157A	possibly damaging	Het
Lrp5	T	A	19: 3,605,308 (GRCm38)	I1071F	probably damaging	Het
Lrrc17	A	G	5: 21,561,278 (GRCm38)	T253A	probably benign	Het
Mast2	T	A	4: 116,311,767 (GRCm38)	H769L	probably damaging	Het
Mast4	T	C	13: 102,853,900 (GRCm38)	K50E	probably damaging	Het
Mbd5	A	G	2: 49,256,689 (GRCm38)	T304A	possibly damaging	Het
Mbp	T	C	18: 82,572,870 (GRCm38)	S73P	probably damaging	Het
Mc5r	T	A	18: 68,339,092 (GRCm38)	V174E	probably damaging	Het
Med13	T	A	11: 86,307,038 (GRCm38)	T736S	probably benign	Het
Med13l	T	C	5: 118,671,002 (GRCm38)		probably benign	Het
Mlh3	C	G	12: 85,235,714 (GRCm38)	A1382P	possibly damaging	Het
Mpdz	T	C	4: 81,359,991 (GRCm38)		probably benign	Het
Muc5ac	A	G	7: 141,796,265 (GRCm38)	T582A	possibly damaging	Het
Mum1l1	T	A	X: 139,235,695 (GRCm38)	D327E	probably damaging	Het
Nalcn	A	G	14: 123,464,740 (GRCm38)	F453S	probably damaging	Het
Nrap	T	A	19: 56,345,474 (GRCm38)	M902L	probably damaging	Het
Nup85	C	T	11: 115,568,370 (GRCm38)	R100*	probably null	Het
Nxf1	T	G	19: 8,764,591 (GRCm38)	N296K	probably damaging	Het
Ogg1	A	G	6: 113,328,420 (GRCm38)	T65A	probably damaging	Het
Ogt	A	G	X: 101,644,199 (GRCm38)		probably benign	Het
Olfr1258	A	G	2: 89,930,201 (GRCm38)	T131A	probably benign	Het
Olfr1298	C	T	2: 111,645,791 (GRCm38)	V69I	probably benign	Het
Olfr504	T	A	7: 108,565,276 (GRCm38)	N173I	probably benign	Het
Olfr558	T	A	7: 102,709,995 (GRCm38)	H245Q	probably damaging	Het
Ovol2	T	C	2: 144,331,790 (GRCm38)	D24G	probably damaging	Het
Pabpc1	A	G	15: 36,599,054 (GRCm38)		probably benign	Het
Pak6	T	C	2: 118,693,687 (GRCm38)	L441P	probably damaging	Het
Pappa	T	A	4: 65,189,315 (GRCm38)	C654*	probably null	Het
Paqr6	T	A	3: 88,365,991 (GRCm38)	S97T	probably damaging	Het
Parp14	T	C	16: 35,858,518 (GRCm38)	N360S	probably benign	Het
Pclo	G	T	5: 14,677,859 (GRCm38)	G2244*	probably null	Het
Pdzrn3	A	T	6: 101,155,942 (GRCm38)		probably null	Het
Pes1	T	C	11: 3,975,557 (GRCm38)	M220T	probably damaging	Het
Phip	A	T	9: 82,876,221 (GRCm38)	V1473E	probably benign	Het
Pkd2l2	T	A	18: 34,430,268 (GRCm38)		probably null	Het
Plch1	T	C	3: 63,753,256 (GRCm38)	D302G	probably damaging	Het
Plekhh2	A	G	17: 84,618,031 (GRCm38)	T1419A	probably benign	Het
Ppara	A	T	15: 85,798,171 (GRCm38)	E356V	probably damaging	Het
Ppp1r37	G	A	7: 19,532,177 (GRCm38)	P555S	probably benign	Het
Ppp6r1	T	C	7: 4,639,710 (GRCm38)	E545G	possibly damaging	Het
Proser3	G	A	7: 30,540,699 (GRCm38)	H327Y	probably damaging	Het
Prss43	T	A	9: 110,829,508 (GRCm38)	I292N	probably damaging	Het
Pygl	G	C	12: 70,206,404 (GRCm38)	N271K	probably damaging	Het
Rassf7	T	A	7: 141,216,990 (GRCm38)		probably benign	Het
Rfx2	T	C	17: 56,803,722 (GRCm38)	Y88C	probably damaging	Het
Rpl6	T	C	5: 121,208,478 (GRCm38)	V214A	probably benign	Het
Rspo1	T	A	4: 124,991,432 (GRCm38)		probably null	Het
Sav1	A	C	12: 69,966,205 (GRCm38)	L366V	probably benign	Het
Sema3b	T	G	9: 107,604,156 (GRCm38)	T52P	possibly damaging	Het
Senp6	A	G	9: 80,116,559 (GRCm38)	D40G	probably damaging	Het
Sh3pxd2a	A	G	19: 47,268,207 (GRCm38)	S719P	probably damaging	Het
Shank1	C	T	7: 44,352,294 (GRCm38)	R1146W	unknown	Het
Slc34a3	G	T	2: 25,231,233 (GRCm38)	D307E	probably benign	Het
Slc35b3	T	C	13: 38,937,275 (GRCm38)	I330V	probably benign	Het
Slc4a10	G	A	2: 62,243,398 (GRCm38)	C268Y	probably benign	Het
Slco6d1	A	G	1: 98,421,399 (GRCm38)	E65G	probably benign	Het
Slit2	A	G	5: 48,245,573 (GRCm38)		probably benign	Het
Smcr8	T	C	11: 60,778,115 (GRCm38)	Y30H	probably damaging	Het
Snap47	A	G	11: 59,438,500 (GRCm38)		probably benign	Het
Snrnp25	G	A	11: 32,206,960 (GRCm38)	V15I	probably damaging	Het
Spns2	T	C	11: 72,454,397 (GRCm38)	Y449C	probably damaging	Het
Stab2	T	A	10: 86,924,450 (GRCm38)		probably benign	Het
Strip1	C	A	3: 107,614,613 (GRCm38)	D750Y	probably damaging	Het
Taf1c	A	T	8: 119,599,983 (GRCm38)	I438N	probably damaging	Het
Tbc1d2	T	A	4: 46,609,003 (GRCm38)	K745*	probably null	Het
Tctn1	T	C	5: 122,264,144 (GRCm38)	T76A	probably damaging	Het
Tfpi	T	C	2: 84,443,320 (GRCm38)		probably benign	Het
Tnfaip1	A	T	11: 78,530,014 (GRCm38)		probably benign	Het
Tnpo3	A	T	6: 29,554,993 (GRCm38)		probably benign	Het
Top3b	T	C	16: 16,879,437 (GRCm38)		probably benign	Het
Trak1	T	A	9: 121,453,285 (GRCm38)	M410K	possibly damaging	Het
Trpm3	C	A	19: 22,978,654 (GRCm38)	P1160Q	probably damaging	Het
Tyk2	T	A	9: 21,111,137 (GRCm38)	T799S	possibly damaging	Het
Ubfd1	G	A	7: 122,067,491 (GRCm38)		probably benign	Het
Unc13a	G	A	8: 71,642,173 (GRCm38)	R1272*	probably null	Het
Unc45b	T	A	11: 82,940,205 (GRCm38)	L797Q	possibly damaging	Het
Urb2	C	T	8: 124,030,970 (GRCm38)	Q1139*	probably null	Het
Vmn2r66	A	T	7: 85,007,862 (GRCm38)	S112T	probably benign	Het
Vmn2r71	A	T	7: 85,623,634 (GRCm38)	D552V	probably benign	Het
Vmn2r76	A	G	7: 86,228,696 (GRCm38)	Y498H	probably benign	Het
Vmn2r84	A	C	10: 130,391,115 (GRCm38)	W285G	probably damaging	Het
Vps72	G	T	3: 95,122,583 (GRCm38)	L304F	probably damaging	Het
Wiz	A	T	17: 32,356,441 (GRCm38)	I907N	probably damaging	Het
Yaf2	T	C	15: 93,285,536 (GRCm38)	K131R	probably damaging	Het
Zfp141	A	T	7: 42,476,056 (GRCm38)	Y331N	possibly damaging	Het
Zfp324	G	T	7: 12,971,024 (GRCm38)	C380F	probably damaging	Het
Zfp521	T	C	18: 13,845,062 (GRCm38)	T765A	probably benign	Het
Zfp616	A	T	11: 74,085,674 (GRCm38)	H923L	probably damaging	Het
Zfpm1	C	T	8: 122,335,846 (GRCm38)	T548M	probably damaging	Het
Zp2	A	T	7: 120,143,576 (GRCm38)		probably benign	Het

Other mutations in Timm44

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01544:Timm44	APN	8	4,275,888 (GRCm38)	utr 5 prime	probably benign
IGL01768:Timm44	APN	8	4,266,860 (GRCm38)	missense	probably benign	0.00
IGL02336:Timm44	APN	8	4,267,692 (GRCm38)	missense	probably damaging	1.00
lassie	UTSW	8	4,260,621 (GRCm38)	missense	probably damaging	1.00
Togo	UTSW	8	4,270,019 (GRCm38)	missense	probably benign	0.10
R0505:Timm44	UTSW	8	4,260,532 (GRCm38)	nonsense	probably null
R1842:Timm44	UTSW	8	4,260,510 (GRCm38)	critical splice donor site	probably null
R1965:Timm44	UTSW	8	4,260,603 (GRCm38)	missense	possibly damaging	0.65
R2243:Timm44	UTSW	8	4,267,871 (GRCm38)	missense	possibly damaging	0.91
R2318:Timm44	UTSW	8	4,268,307 (GRCm38)	missense	probably benign	0.18
R2518:Timm44	UTSW	8	4,266,588 (GRCm38)	missense	probably null	1.00
R4049:Timm44	UTSW	8	4,260,561 (GRCm38)	missense	probably benign	0.00
R4489:Timm44	UTSW	8	4,266,654 (GRCm38)	missense	possibly damaging	0.48
R4803:Timm44	UTSW	8	4,267,932 (GRCm38)	missense	probably damaging	0.99
R5001:Timm44	UTSW	8	4,275,886 (GRCm38)	start codon destroyed	probably null	0.98
R5260:Timm44	UTSW	8	4,275,919 (GRCm38)	splice site	probably null
R5335:Timm44	UTSW	8	4,266,814 (GRCm38)	missense	probably damaging	1.00
R5502:Timm44	UTSW	8	4,269,992 (GRCm38)	missense	possibly damaging	0.93
R5602:Timm44	UTSW	8	4,266,769 (GRCm38)	critical splice donor site	probably null
R5700:Timm44	UTSW	8	4,274,171 (GRCm38)	missense	probably damaging	1.00
R6004:Timm44	UTSW	8	4,267,747 (GRCm38)	missense	probably benign	0.00
R6186:Timm44	UTSW	8	4,266,824 (GRCm38)	missense	probably damaging	1.00
R6524:Timm44	UTSW	8	4,267,988 (GRCm38)	missense	possibly damaging	0.68
R6823:Timm44	UTSW	8	4,267,282 (GRCm38)	missense	probably damaging	1.00
R6996:Timm44	UTSW	8	4,266,611 (GRCm38)	missense	possibly damaging	0.87
R7183:Timm44	UTSW	8	4,267,311 (GRCm38)	missense	probably damaging	0.98
R7844:Timm44	UTSW	8	4,269,976 (GRCm38)	missense	possibly damaging	0.71
R8209:Timm44	UTSW	8	4,266,844 (GRCm38)	missense	probably benign	0.02
R8532:Timm44	UTSW	8	4,260,549 (GRCm38)	missense	possibly damaging	0.63
R8785:Timm44	UTSW	8	4,270,019 (GRCm38)	missense	probably benign	0.10
R9003:Timm44	UTSW	8	4,274,204 (GRCm38)	missense	possibly damaging	0.89
R9262:Timm44	UTSW	8	4,260,621 (GRCm38)	missense	probably damaging	1.00
R9537:Timm44	UTSW	8	4,260,576 (GRCm38)	missense	possibly damaging	0.90
R9759:Timm44	UTSW	8	4,267,707 (GRCm38)	nonsense	probably null
Z1088:Timm44	UTSW	8	4,268,004 (GRCm38)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGGACAAGAGCCATGACTATCCG -3'
(R):5'- ACCGACAAGGTCACTGACTTGC -3'

Sequencing Primer
(F):5'- TGGTGAGAACCCTAACCGTC -3'
(R):5'- ACTGACTTGCTAGGTGAGTG -3'

Posted On

2013-11-07