Mutagenetix > Incidental Mutations

Incidental Mutation 'R1054:Timmdc1'

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94227

Institutional Source

Beutler Lab

Gene Symbol

Timmdc1

Ensembl Gene

ENSMUSG00000002846

Gene Name

translocase of inner mitochondrial membrane domain containing 1

Synonyms

MMRRC Submission

039144-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1054 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

38498347-38522663 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 38522428 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 36 (V36A)

Ref Sequence

ENSEMBL: ENSMUSP00000002925 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002925] [ENSMUST00000036210]

Predicted Effect

probably benign
Transcript: ENSMUST00000002925
AA Change: V36A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000002925
Gene: ENSMUSG00000002846
AA Change: V36A

Domain	Start	End	E-Value	Type
Pfam:Tim17	74	207	4e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036210

SMART Domains

Protein: ENSMUSP00000038166
Gene: ENSMUSG00000034064

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
CAP10	121	373	6.69e-102	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147543

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153187

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trap allele exhibit lethality. Heterozygous mice show an increased mean percentage of CD4 cells in the peripheral blood compared with controls, but no other notable heterozygous phenotype was detected. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap39	T	C	15: 76,751,559	T159A	probably benign	Het
Arhgef38	T	C	3: 133,116,465	Y763C	probably damaging	Het
Arv1	T	A	8: 124,731,872	F245Y	probably benign	Het
Ccdc175	A	G	12: 72,178,544	I113T	possibly damaging	Het
Cdc42bpb	A	T	12: 111,313,353	M932K	probably benign	Het
Cdh15	T	C	8: 122,864,337	F442L	possibly damaging	Het
Col28a1	C	T	6: 8,175,534	D105N	probably damaging	Het
Cpne4	A	G	9: 105,022,401	T428A	probably benign	Het
Cramp1l	T	A	17: 24,983,177	I444F	probably damaging	Het
Dhx32	T	A	7: 133,725,272	K360M	probably damaging	Het
Dna2	T	A	10: 62,963,823	C669S	possibly damaging	Het
Dusp8	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC	7: 142,082,067		probably benign	Het
Eif3f	G	A	7: 108,937,817		probably null	Het
Elmod1	T	C	9: 53,912,774	D310G	probably benign	Het
Fam105a	T	C	15: 27,664,549	R79G	probably damaging	Het
Fn1	A	G	1: 71,586,214	*2272Q	probably null	Het
Gm12800	A	G	4: 101,909,164	E15G	probably benign	Het
Gm8765	T	C	13: 50,702,396	V690A	probably benign	Het
Gnat1	A	G	9: 107,677,439	S76P	probably damaging	Het
Gtf2f2	T	C	14: 75,995,445	T94A	probably benign	Het
Hacd4	A	T	4: 88,423,027	W152R	probably damaging	Het
Kcnh8	A	G	17: 52,803,484	Y241C	probably damaging	Het
Lepr	T	C	4: 101,782,596	I753T	probably damaging	Het
Med12l	C	T	3: 59,248,651	H1162Y	probably damaging	Het
Med25	C	T	7: 44,880,380	A485T	probably benign	Het
Mup5	A	T	4: 61,832,634	S145R	probably benign	Het
Myo1g	A	G	11: 6,518,987	V105A	probably damaging	Het
Npc2	A	G	12: 84,760,718		probably null	Het
Olfr414	A	G	1: 174,430,853	T142A	probably benign	Het
Olfr648	A	G	7: 104,180,291	I39T	probably benign	Het
Pdzd2	A	G	15: 12,371,639	S2557P	probably damaging	Het
Pop1	T	C	15: 34,509,809	V353A	probably benign	Het
Pou3f2	A	G	4: 22,487,536	V199A	possibly damaging	Het
Ptprm	A	T	17: 67,042,318	N43K	probably damaging	Het
Qrsl1	C	T	10: 43,882,081	D339N	probably damaging	Het
Rpl13-ps3	C	A	14: 58,893,945		noncoding transcript	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Sdr16c6	A	G	4: 4,069,908	V144A	probably damaging	Het
Spata31d1b	C	A	13: 59,717,518	H827N	probably damaging	Het
Taf4b	T	A	18: 14,821,473	H535Q	probably benign	Het
Tmem74b	C	T	2: 151,706,419	A22V	probably benign	Het
Txnrd3	T	A	6: 89,650,561	Y65*	probably null	Het
Vmn1r200	T	A	13: 22,395,454	S133R	probably damaging	Het
Vwf	G	A	6: 125,590,227	C311Y	probably damaging	Het
Wipf2	G	A	11: 98,896,315	R390H	possibly damaging	Het
Zfp282	T	A	6: 47,904,599	S407T	probably benign	Het

Other mutations in Timmdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Timmdc1	APN	16	38518385	missense	probably benign	0.01
IGL01470:Timmdc1	APN	16	38518540	splice site	probably benign
IGL02480:Timmdc1	APN	16	38522401	missense	probably null	0.05
IGL03241:Timmdc1	APN	16	38510709	splice site	probably benign
R0106:Timmdc1	UTSW	16	38522362	missense	probably damaging	1.00
R0579:Timmdc1	UTSW	16	38522383	missense	probably benign
R1661:Timmdc1	UTSW	16	38510717	critical splice donor site	probably null
R1665:Timmdc1	UTSW	16	38510717	critical splice donor site	probably null
R1793:Timmdc1	UTSW	16	38499057	missense	possibly damaging	0.89
R2135:Timmdc1	UTSW	16	38498951	missense	probably benign	0.01
R6234:Timmdc1	UTSW	16	38518499	nonsense	probably null
R7472:Timmdc1	UTSW	16	38505418	nonsense	probably null
R8169:Timmdc1	UTSW	16	38510786	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- CATGTCAACCAGGTCGGACACTATC -3'
(R):5'- CAGTTCCAGTTTCTACGTCCCGAG -3'

Sequencing Primer
(F):5'- AGAACTTTCAGCGTCGCAG -3'
(R):5'- AGGTTCAGTGTCCCCCAAC -3'

Posted On

2014-01-05