Mutagenetix > Incidental Mutation

Incidental Mutation 'R5260:Timm44'

455969

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

042829-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R5260 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

4259731-4275913 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 4275919 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

AlphaFold

O35857

Predicted Effect

probably null
Transcript: ENSMUST00000003029

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949

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

Predicted Effect

probably null
Transcript: ENSMUST00000003029

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949

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

Predicted Effect

probably null
Transcript: ENSMUST00000003029

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949

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: 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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (77/78)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	T	1: 93,159,978	V51E	probably damaging	Het
Abraxas2	A	T	7: 132,859,274	I14F	probably damaging	Het
Acin1	T	C	14: 54,642,822		probably benign	Het
Adamts9	C	A	6: 92,807,137	V1579L	probably benign	Het
Adra2a	T	A	19: 54,046,608	C132S	probably damaging	Het
Aif1	T	A	17: 35,171,941		probably null	Het
Atf5	A	T	7: 44,815,086	Y27*	probably null	Het
Atm	A	G	9: 53,506,611	S799P	probably damaging	Het
Bmp2k	T	G	5: 97,087,351		probably benign	Het
Chaf1a	C	T	17: 56,065,000	H723Y	probably damaging	Het
Clint1	T	C	11: 45,907,942	W493R	probably damaging	Het
Cyb561a3	T	A	19: 10,587,866	V198D	possibly damaging	Het
Cyp2j8	T	C	4: 96,501,064	E174G	possibly damaging	Het
Cyp4v3	C	T	8: 45,306,980	G512S	probably damaging	Het
Dnah8	T	A	17: 30,700,419	V1122D	probably benign	Het
Doc2b	C	A	11: 75,786,163	G128V	probably damaging	Het
Dysf	T	C	6: 84,150,034	V1378A	probably damaging	Het
Efcab5	A	T	11: 77,137,651	S421T	possibly damaging	Het
Efcab6	T	G	15: 83,945,123	D672A	probably benign	Het
Eif2ak3	C	A	6: 70,893,129	H933Q	probably damaging	Het
Erc1	A	T	6: 119,761,159	N574K	probably damaging	Het
Eri2	A	T	7: 119,787,846		probably benign	Het
Faxc	A	G	4: 21,948,744	Y152C	probably damaging	Het
Fbxl7	T	A	15: 26,543,499	Y354F	probably damaging	Het
Fras1	T	A	5: 96,735,187	I2526N	possibly damaging	Het
Gm1966	A	G	7: 106,599,204		noncoding transcript	Het
Gm5424	A	T	10: 62,071,595		noncoding transcript	Het
Gm6728	T	C	6: 136,486,703		noncoding transcript	Het
Golgb1	A	T	16: 36,913,141	S917C	probably benign	Het
Gtpbp3	T	C	8: 71,489,418		probably benign	Het
Gusb	A	T	5: 129,999,988	Y220*	probably null	Het
Hmcn1	A	G	1: 150,595,861	V4914A	possibly damaging	Het
Iars2	C	A	1: 185,323,734	C211F	probably damaging	Het
Kif5b	A	G	18: 6,211,058	L802P	probably damaging	Het
Kif5c	A	G	2: 49,735,590	E624G	probably damaging	Het
Kmt2d	G	T	15: 98,842,860		probably benign	Het
Krt82	C	A	15: 101,548,388	G186C	possibly damaging	Het
Lca5	G	A	9: 83,423,223	R177C	probably damaging	Het
Mier1	T	C	4: 103,162,710	S318P	probably benign	Het
Obscn	A	T	11: 59,003,369	I1207N	probably damaging	Het
Olfr1161	A	C	2: 88,025,474	I251L	probably benign	Het
Olfr1261	A	G	2: 89,994,182	D263G	probably damaging	Het
Olfr1302	A	G	2: 111,781,181	Y287C	probably damaging	Het
Olfr607	A	G	7: 103,460,615	F198L	probably benign	Het
Oog4	C	T	4: 143,437,854	G369D	probably benign	Het
Plec	T	C	15: 76,176,624	T3060A	probably damaging	Het
Plekhh2	C	T	17: 84,577,165	T769I	probably damaging	Het
Prkaa1	A	T	15: 5,160,668	S65C	probably damaging	Het
Psma3	T	C	12: 70,984,642		probably benign	Het
Ptpn18	T	A	1: 34,463,510		probably benign	Het
Ptprv	T	C	1: 135,112,260		noncoding transcript	Het
Rac1	C	A	5: 143,508,131	V104L	probably benign	Het
Serpinb7	A	T	1: 107,434,749	N61I	possibly damaging	Het
Sirt7	A	C	11: 120,620,521		probably benign	Het
Srl	G	A	16: 4,482,895	R333*	probably null	Het
Srprb	A	T	9: 103,201,920	L756Q	probably damaging	Het
Tchhl1	T	C	3: 93,470,795	S269P	probably damaging	Het
Tdo2	C	T	3: 81,975,323		probably null	Het
Teddm1a	T	C	1: 153,891,900	Y37H	probably benign	Het
Tenm3	T	C	8: 48,236,855	Y1899C	probably damaging	Het
Tep1	T	C	14: 50,838,631	T1681A	probably benign	Het
Trp73	A	G	4: 154,062,602	V322A	possibly damaging	Het
Tsr1	A	C	11: 74,905,955	E611A	probably damaging	Het
Unc80	A	G	1: 66,646,587	N2290S	possibly damaging	Het
Ush2a	T	C	1: 188,947,079	V4828A	possibly damaging	Het
Vps51	T	G	19: 6,071,033	E283D	probably benign	Het
Wnt9b	C	A	11: 103,732,049	S176I	possibly damaging	Het
Zfp329	A	G	7: 12,806,526		probably benign	Het
Zfp352	T	A	4: 90,224,460	V279D	probably damaging	Het
Zfp932	C	T	5: 110,009,635	Q400*	probably null	Het
Zxdc	T	A	6: 90,382,093	L569Q	probably damaging	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
lassie	UTSW	8	4260621	missense	probably damaging	1.00
Togo	UTSW	8	4270019	missense	probably benign	0.10
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
R5335:Timm44	UTSW	8	4266814	missense	probably damaging	1.00
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
R7844:Timm44	UTSW	8	4269976	missense	possibly damaging	0.71
R8209:Timm44	UTSW	8	4266844	missense	probably benign	0.02
R8532:Timm44	UTSW	8	4260549	missense	possibly damaging	0.63
R8785:Timm44	UTSW	8	4270019	missense	probably benign	0.10
R9003:Timm44	UTSW	8	4274204	missense	possibly damaging	0.89
R9262:Timm44	UTSW	8	4260621	missense	probably damaging	1.00
R9537:Timm44	UTSW	8	4260576	missense	possibly damaging	0.90
R9759:Timm44	UTSW	8	4267707	nonsense	probably null
Z1088:Timm44	UTSW	8	4268004	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CGAGCATTGCCGCTGAATTC -3'
(R):5'- TCCCTGAGCCTCAACAAGAG -3'

Sequencing Primer
(F):5'- TCGGCTGACCCAATGACC -3'
(R):5'- GGCTTACCTGTCCTAAACTCTG -3'

Posted On

2017-02-14