Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00984:Timm23'

29007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timm23

Ensembl Gene

ENSMUSG00000013701

Gene Name

translocase of inner mitochondrial membrane 23

Synonyms

Tim23

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00984

Quality Score

Status

Chromosome

Chromosomal Location

31902123-31923848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31902612 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 177 (I177T)

Ref Sequence

ENSEMBL: ENSMUSP00000013845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013845] [ENSMUST00000111994] [ENSMUST00000163336] [ENSMUST00000163379] [ENSMUST00000168334] [ENSMUST00000168385] [ENSMUST00000170331] [ENSMUST00000226683] [ENSMUST00000169722]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000013845
AA Change: I177T

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
AA Change: I177T

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
Pfam:Tim17	76	196	6.6e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111994

SMART Domains

Protein: ENSMUSP00000107625
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	168	5e-44	PFAM
Pfam:ARA70	197	338	5.1e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163336

SMART Domains

Protein: ENSMUSP00000126071
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	33	169	2.4e-28	PFAM
Pfam:ARA70	199	334	4.7e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000163379

SMART Domains

Protein: ENSMUSP00000129688
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168139

Predicted Effect

probably benign
Transcript: ENSMUST00000168334

SMART Domains

Protein: ENSMUSP00000128739
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	96	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168385

SMART Domains

Protein: ENSMUSP00000126222
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	1	73	8.2e-24	PFAM
Pfam:ARA70	102	205	2.9e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170331

SMART Domains

Protein: ENSMUSP00000126977
Gene: ENSMUSG00000013701

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226683
AA Change: I165T

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000169722

SMART Domains

Protein: ENSMUSP00000129917
Gene: ENSMUSG00000056234

Domain	Start	End	E-Value	Type
Pfam:ARA70	37	168	6.5e-45	PFAM
Pfam:ARA70	196	337	6.3e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228779

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele die prior to E3.5. Mice heterogygous for this allele exhibit background sensitive premature aging and increased mortality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	T	A	8: 43,973,410 (GRCm39)	N531Y	possibly damaging	Het
Adamts12	G	A	15: 11,215,696 (GRCm39)	R239K	probably benign	Het
Alppl2	T	A	1: 87,016,534 (GRCm39)	H180L	probably damaging	Het
Atp10a	T	C	7: 58,308,489 (GRCm39)	V96A	probably damaging	Het
Atp2c1	T	A	9: 105,295,778 (GRCm39)	I649F	probably damaging	Het
Atp6v1h	A	G	1: 5,165,905 (GRCm39)	Y125C	probably damaging	Het
Cds2	T	C	2: 132,140,441 (GRCm39)	V213A	probably benign	Het
Csnk1a1	A	G	18: 61,708,624 (GRCm39)		probably benign	Het
Ctdspl2	C	T	2: 121,799,767 (GRCm39)		probably benign	Het
Dohh	G	A	10: 81,223,756 (GRCm39)		probably null	Het
Dst	A	T	1: 34,295,401 (GRCm39)	D5971V	probably damaging	Het
Focad	G	T	4: 88,263,022 (GRCm39)	M1006I	unknown	Het
Garin5b	C	T	7: 4,760,526 (GRCm39)	V729M	probably damaging	Het
Iqgap1	T	C	7: 80,376,546 (GRCm39)	D1322G	probably damaging	Het
Mcm3ap	G	T	10: 76,335,400 (GRCm39)	S1274I	probably damaging	Het
Mrpl42	C	T	10: 95,326,202 (GRCm39)	V97I	probably benign	Het
Or4p21	A	T	2: 88,276,539 (GRCm39)	F248I	probably damaging	Het
Pabpc6	A	T	17: 9,887,618 (GRCm39)	L311H	probably damaging	Het
Pdzrn3	A	T	6: 101,331,447 (GRCm39)	S276T	probably benign	Het
Pi4ka	A	T	16: 17,176,796 (GRCm39)	C383*	probably null	Het
Pik3r6	A	G	11: 68,424,445 (GRCm39)	D350G	probably benign	Het
Ptcd1	C	T	5: 145,102,239 (GRCm39)	V27I	probably benign	Het
Ranbp2	A	T	10: 58,297,786 (GRCm39)	R398*	probably null	Het
Rpl3l	T	C	17: 24,954,445 (GRCm39)	C336R	probably damaging	Het
Rxfp2	T	C	5: 149,990,597 (GRCm39)	S443P	probably benign	Het
Sec24b	T	C	3: 129,814,295 (GRCm39)		probably benign	Het
Septin11	T	C	5: 93,310,043 (GRCm39)	M282T	possibly damaging	Het
Syt16	C	T	12: 74,269,604 (GRCm39)	Q148*	probably null	Het
Treh	A	G	9: 44,594,264 (GRCm39)		probably benign	Het
Vmn1r71	A	G	7: 10,482,046 (GRCm39)	V214A	probably damaging	Het
Zfp715	G	A	7: 42,949,208 (GRCm39)	P251S	probably benign	Het

Other mutations in Timm23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02023:Timm23	APN	14	31,915,804 (GRCm39)	splice site	probably benign
R0666:Timm23	UTSW	14	31,920,993 (GRCm39)	splice site	probably benign
R2214:Timm23	UTSW	14	31,920,944 (GRCm39)	missense	probably damaging	0.98
R5132:Timm23	UTSW	14	31,915,902 (GRCm39)	missense	probably damaging	1.00
R5161:Timm23	UTSW	14	31,915,882 (GRCm39)	missense	probably damaging	1.00
R5427:Timm23	UTSW	14	31,911,103 (GRCm39)	missense	possibly damaging	0.95
R6518:Timm23	UTSW	14	31,923,594 (GRCm39)	splice site	probably null
R7659:Timm23	UTSW	14	31,920,935 (GRCm39)	nonsense	probably null
R7692:Timm23	UTSW	14	31,902,520 (GRCm39)	missense	probably damaging	1.00
R9484:Timm23	UTSW	14	31,902,586 (GRCm39)	missense	probably benign	0.00
R9609:Timm23	UTSW	14	31,902,543 (GRCm39)	missense	probably benign	0.21
RF024:Timm23	UTSW	14	31,902,512 (GRCm39)	makesense	probably null

Posted On

2013-04-17