Mutagenetix > Incidental Mutation

Incidental Mutation 'R7844:Timm44'

606509

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

045898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R7844 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4309731-4325905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4319976 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 64 (L64P)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

AlphaFold

O35857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003029
AA Change: L64P

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: L64P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,423 (GRCm39)	E65G	unknown	Het
Aadacl2fm2	A	T	3: 59,637,318 (GRCm39)	I27F	probably benign	Het
Abcg5	A	T	17: 84,981,018 (GRCm39)	N190K	possibly damaging	Het
Abhd6	A	C	14: 8,039,792 (GRCm38)	H55P	probably benign	Het
Acox3	A	T	5: 35,764,492 (GRCm39)	Q535L	probably benign	Het
Adora1	A	G	1: 134,131,276 (GRCm39)	W132R	probably damaging	Het
Armc3	A	G	2: 19,258,829 (GRCm39)	I299V	possibly damaging	Het
Atp11a	A	G	8: 12,901,039 (GRCm39)	D956G	possibly damaging	Het
Bptf	C	A	11: 106,964,887 (GRCm39)	V1436F	probably damaging	Het
Brd9	A	G	13: 74,086,652 (GRCm39)	Y51C	probably damaging	Het
Cdh18	T	C	15: 23,410,873 (GRCm39)	W453R	probably damaging	Het
Cfap54	T	C	10: 92,737,920 (GRCm39)	Q2326R	unknown	Het
Col4a2	G	T	8: 11,475,453 (GRCm39)	E626*	probably null	Het
Dpp8	A	G	9: 64,952,949 (GRCm39)	I208M	probably damaging	Het
Evi5	T	C	5: 108,022,860 (GRCm39)	R16G	probably benign	Het
Gabrg1	T	C	5: 70,931,675 (GRCm39)	Y356C	probably damaging	Het
Gbp7	G	T	3: 142,242,147 (GRCm39)	V94L	probably benign	Het
Gm4884	A	C	7: 40,690,122 (GRCm39)	Q6P	probably benign	Het
Gm9767	A	T	10: 25,954,255 (GRCm39)		probably benign	Het
Gopc	T	C	10: 52,215,845 (GRCm39)	S448G	possibly damaging	Het
Gpr15	A	T	16: 58,538,873 (GRCm39)	I72N	probably damaging	Het
Hsd17b11	T	A	5: 104,166,132 (GRCm39)	T76S	probably damaging	Het
Inhbe	A	G	10: 127,186,779 (GRCm39)	S134P	possibly damaging	Het
Inpp4b	G	A	8: 82,467,949 (GRCm39)		probably benign	Het
Ipo9	A	G	1: 135,322,062 (GRCm39)	V556A	probably benign	Het
Klhdc2	T	A	12: 69,349,180 (GRCm39)	F106I	probably damaging	Het
Krt7	G	A	15: 101,310,515 (GRCm39)	G54D	possibly damaging	Het
Mecom	T	G	3: 30,063,973 (GRCm39)	Y39S	unknown	Het
Mrpl49	C	T	19: 6,105,200 (GRCm39)	R87H	probably damaging	Het
Nfat5	A	G	8: 108,085,300 (GRCm39)	D531G	probably damaging	Het
Nlrp9a	A	T	7: 26,262,006 (GRCm39)	K718N	possibly damaging	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or52d1	T	G	7: 103,755,690 (GRCm39)	L68W	probably damaging	Het
Pigu	A	C	2: 155,134,640 (GRCm39)	Y388*	probably null	Het
Pirb	A	T	7: 3,722,410 (GRCm39)	C144*	probably null	Het
Pkm	A	G	9: 59,578,005 (GRCm39)	H274R	probably benign	Het
Plch2	C	A	4: 155,073,922 (GRCm39)	D927Y	probably damaging	Het
Rock1	T	G	18: 10,104,173 (GRCm39)	K596Q	probably damaging	Het
Scaper	A	T	9: 55,722,732 (GRCm39)	M692K	probably benign	Het
Serpine1	C	A	5: 137,100,043 (GRCm39)	G39*	probably null	Het
Serpine2	T	C	1: 79,794,516 (GRCm39)	Q139R	probably benign	Het
Sipa1l1	C	A	12: 82,444,267 (GRCm39)	R993S	probably damaging	Het
Slc12a9	T	C	5: 137,330,448 (GRCm39)	T86A	probably damaging	Het
Slc30a6	G	A	17: 74,711,088 (GRCm39)		probably null	Het
Snrnp48	A	G	13: 38,393,965 (GRCm39)	E90G	probably null	Het
Spaca7b	A	T	8: 11,706,174 (GRCm39)	I120K	probably benign	Het
Spdl1	A	T	11: 34,704,170 (GRCm39)	N554K	possibly damaging	Het
Spon1	G	A	7: 113,629,567 (GRCm39)	V404I	probably benign	Het
Tada3	C	T	6: 113,347,921 (GRCm39)	R300H	probably benign	Het
Tcl1b5	G	A	12: 105,142,815 (GRCm39)		probably null	Het
Tdrd9	A	G	12: 111,964,386 (GRCm39)	Y336C	possibly damaging	Het
Tpo	A	G	12: 30,150,404 (GRCm39)	L492P	probably damaging	Het
Trip11	T	G	12: 101,844,403 (GRCm39)	Q1565P	probably damaging	Het
Trpm2	A	G	10: 77,759,340 (GRCm39)	I1148T	probably benign	Het
Tshz1	T	C	18: 84,032,296 (GRCm39)	E704G	probably benign	Het
Tysnd1	C	T	10: 61,537,944 (GRCm39)	R541*	probably null	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
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
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'- CACAGAGAATCTTGCACGGC -3'
(R):5'- TAAACTCCGCTGTCAACAGAG -3'

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

Posted On

2019-12-20