Mutagenetix > Incidental Mutation

Incidental Mutation 'R6996:Timm44'

544207

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

045102-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6996 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4309731-4325905 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4316611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 311 (D311G)

Ref Sequence

ENSEMBL: ENSMUSP00000003029 (fasta)

Gene Model

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

AlphaFold

O35857

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003029
AA Change: D311G

PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000003029
Gene: ENSMUSG00000002949
AA Change: D311G

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: 99.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	G	A	8: 25,296,517 (GRCm39)	S310L	probably damaging	Het
Adamts16	C	T	13: 70,946,157 (GRCm39)		probably null	Het
Arrb1	C	A	7: 99,240,569 (GRCm39)	D194E	probably benign	Het
Atp1a3	T	C	7: 24,697,051 (GRCm39)	D217G	probably damaging	Het
Bcar3	A	G	3: 122,302,033 (GRCm39)	I123V	possibly damaging	Het
Bdp1	G	A	13: 100,180,321 (GRCm39)	L1833F	probably damaging	Het
Cdc14a	T	C	3: 116,122,355 (GRCm39)	Y155C	probably damaging	Het
Cdo1	C	A	18: 46,853,380 (GRCm39)	R126M	possibly damaging	Het
Cfap99	G	T	5: 34,484,604 (GRCm39)	R627L	probably damaging	Het
Efr3a	T	A	15: 65,720,030 (GRCm39)	L369*	probably null	Het
Erich6	A	C	3: 58,543,516 (GRCm39)	F185V	probably damaging	Het
Fam186a	T	C	15: 99,853,374 (GRCm39)	D122G	unknown	Het
Fank1	A	G	7: 133,478,627 (GRCm39)	I230M	possibly damaging	Het
Flg2	A	T	3: 93,109,977 (GRCm39)	E668D	unknown	Het
Flg2	A	C	3: 93,110,256 (GRCm39)	R761S	unknown	Het
Gabrr1	T	C	4: 33,158,157 (GRCm39)	L260P	probably damaging	Het
Gfm2	G	A	13: 97,285,868 (GRCm39)	R119K	probably damaging	Het
Gm14226	A	G	2: 154,866,357 (GRCm39)	T105A	probably benign	Het
Gm14496	A	G	2: 181,637,997 (GRCm39)	N357S	probably damaging	Het
Gm5916	G	A	9: 36,039,935 (GRCm39)	L18F	probably benign	Het
Golm1	A	T	13: 59,790,058 (GRCm39)	N247K	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Greb1	C	T	12: 16,773,355 (GRCm39)	A240T	probably benign	Het
Gtf3c6	T	C	10: 40,125,774 (GRCm39)	M148V	probably benign	Het
Guca1a	T	C	17: 47,706,102 (GRCm39)	S126G	probably benign	Het
Hacl1	A	T	14: 31,337,380 (GRCm39)	I393N	possibly damaging	Het
Hddc3	A	G	7: 79,993,498 (GRCm39)	D68G	possibly damaging	Het
Hsfy2	T	C	1: 56,675,569 (GRCm39)	T323A	possibly damaging	Het
Kcng2	T	C	18: 80,366,358 (GRCm39)		probably benign	Het
Kdm2a	G	T	19: 4,395,669 (GRCm39)	P321T	probably benign	Het
Krt31	A	G	11: 99,938,558 (GRCm39)	V345A	probably benign	Het
Lrrc37	A	T	11: 103,509,583 (GRCm39)	L795*	probably null	Het
Mettl1	T	C	10: 126,880,887 (GRCm39)	S193P	probably benign	Het
Mme	G	A	3: 63,253,523 (GRCm39)	D456N	possibly damaging	Het
Mmrn1	A	G	6: 60,954,367 (GRCm39)	T883A	probably benign	Het
Mphosph10	C	G	7: 64,038,669 (GRCm39)	E293Q	probably benign	Het
Muc16	C	A	9: 18,557,193 (GRCm39)	K3033N	unknown	Het
Myo16	C	T	8: 10,619,496 (GRCm39)	T1349M	probably damaging	Het
Myo5c	T	C	9: 75,157,746 (GRCm39)	I233T	probably benign	Het
Or4p4b-ps1	A	G	2: 88,454,189 (GRCm39)	T181A	unknown	Het
Or52a33	T	G	7: 103,289,065 (GRCm39)	N94T	probably benign	Het
Or52ac1	A	T	7: 104,246,018 (GRCm39)	F123L	probably benign	Het
Or5b111	A	T	19: 13,291,036 (GRCm39)	S204R	probably benign	Het
Or5h22	A	G	16: 58,894,555 (GRCm39)	M296T	probably benign	Het
Or6c2	T	A	10: 129,362,732 (GRCm39)	V212E	probably damaging	Het
Or7c70	C	A	10: 78,683,351 (GRCm39)	V133L	probably benign	Het
Oxct2b	A	G	4: 123,011,480 (GRCm39)	I467V	probably benign	Het
Parp1	A	T	1: 180,414,936 (GRCm39)	N425Y	possibly damaging	Het
Pcdhgc3	T	A	18: 37,939,656 (GRCm39)	V19D	possibly damaging	Het
Pfkl	T	A	10: 77,833,423 (GRCm39)	I260F	probably damaging	Het
Pkd1l1	C	T	11: 8,799,046 (GRCm39)	G1789R	probably damaging	Het
Pla1a	G	A	16: 38,217,830 (GRCm39)	A386V	probably benign	Het
Pml	A	G	9: 58,142,169 (GRCm39)	L221P	probably damaging	Het
Rcn2	C	T	9: 55,964,845 (GRCm39)	Q268*	probably null	Het
Reps1	T	A	10: 17,969,603 (GRCm39)	D235E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,118 (GRCm39)		probably benign	Het
Sap30bp	A	G	11: 115,824,314 (GRCm39)		probably benign	Het
Scn1a	A	T	2: 66,118,075 (GRCm39)	S1433T	probably damaging	Het
Sde2	T	C	1: 180,678,754 (GRCm39)	V6A	probably benign	Het
Sdk1	C	A	5: 142,197,769 (GRCm39)	R2141S	probably benign	Het
Setd2	T	C	9: 110,379,640 (GRCm39)	S1152P	probably damaging	Het
Slc26a2	C	T	18: 61,334,926 (GRCm39)	V176I	probably damaging	Het
Snx7	A	G	3: 117,640,281 (GRCm39)	I76T	possibly damaging	Het
Specc1l	C	A	10: 75,082,113 (GRCm39)	A520D	probably benign	Het
Spop	A	G	11: 95,362,136 (GRCm39)	T56A	possibly damaging	Het
Syne2	T	A	12: 76,074,786 (GRCm39)	D4576E	probably damaging	Het
Tas2r134	A	C	2: 51,517,601 (GRCm39)	M27L	probably benign	Het
Tecta	A	C	9: 42,278,082 (GRCm39)	I1142S	probably benign	Het
Tmem123	C	G	9: 7,791,071 (GRCm39)	T124R	possibly damaging	Het
Tmem184b	A	T	15: 79,246,959 (GRCm39)	L370Q	probably benign	Het
Trim25	T	A	11: 88,890,329 (GRCm39)	N5K	probably benign	Het
Vmn2r93	A	G	17: 18,524,903 (GRCm39)	Y187C	probably damaging	Het
Vpreb1a	A	G	16: 16,686,678 (GRCm39)	Y71H	probably damaging	Het
Vpreb1b	T	C	16: 17,798,441 (GRCm39)	S5P	probably benign	Het
Xpo7	A	T	14: 70,906,888 (GRCm39)	C939S	probably benign	Het
Zfp78	C	A	7: 6,381,764 (GRCm39)	S271R	probably benign	Het
Zic5	A	T	14: 122,702,080 (GRCm39)	M217K	probably benign	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
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'- AGCCTCGGTAACTTGACTCTG -3'
(R):5'- GAAAGTGACAATGTCCTCATCC -3'

Sequencing Primer
(F):5'- CTTGACTCTGAGGTAATCGCAAGTC -3'
(R):5'- CGACAAGGTCACTGACTTGCTAG -3'

Posted On

2019-05-13