Mutagenetix > Incidental Mutation

Incidental Mutation 'R7692:Timm23'

593466

Institutional Source

Beutler Lab

Gene Symbol

Timm23

Ensembl Gene

ENSMUSG00000013701

Gene Name

translocase of inner mitochondrial membrane 23

Synonyms

Tim23

MMRRC Submission

045756-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7692 (G1)

Quality Score

192.009

Status

Not validated

Chromosome

Chromosomal Location

31902123-31923848 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31902520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 208 (S208P)

Ref Sequence

ENSEMBL: ENSMUSP00000013845 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000013845
AA Change: S208P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000013845
Gene: ENSMUSG00000013701
AA Change: S208P

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

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: 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

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 damaging
Transcript: ENSMUST00000226683
AA Change: S196P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26b	G	A	8: 43,973,832 (GRCm39)	T390I	probably benign	Het
Adgb	A	G	10: 10,287,456 (GRCm39)		probably null	Het
Ado	G	T	10: 67,384,265 (GRCm39)	Y113*	probably null	Het
Angptl1	A	G	1: 156,672,885 (GRCm39)	E237G	probably damaging	Het
Arid2	T	A	15: 96,254,578 (GRCm39)	Y141*	probably null	Het
Clvs1	T	C	4: 9,350,739 (GRCm39)	I183T	probably benign	Het
Dnah1	T	C	14: 31,014,295 (GRCm39)	K1817E	probably benign	Het
Eif3e	C	A	15: 43,126,642 (GRCm39)	R271L	probably damaging	Het
Eml6	A	G	11: 29,703,085 (GRCm39)	V1611A	probably damaging	Het
Enpp3	G	T	10: 24,660,739 (GRCm39)	Y634*	probably null	Het
Evi5l	C	T	8: 4,250,886 (GRCm39)	R394W	probably damaging	Het
Fcgr3	A	C	1: 170,881,661 (GRCm39)	F156V	probably damaging	Het
Fmo1	T	A	1: 162,661,402 (GRCm39)	T294S	probably benign	Het
Gabrb3	A	G	7: 57,466,203 (GRCm39)	Q339R	probably damaging	Het
Gen1	T	A	12: 11,292,167 (GRCm39)	T606S	probably benign	Het
Gfod1	T	C	13: 43,354,528 (GRCm39)	Q149R	probably benign	Het
Golm1	A	G	13: 59,788,071 (GRCm39)	V276A	probably benign	Het
Hc	C	A	2: 34,914,161 (GRCm39)	V849F	probably damaging	Het
Hectd4	T	C	5: 121,459,627 (GRCm39)	I832T	possibly damaging	Het
Hspa14	T	C	2: 3,497,643 (GRCm39)	D283G	probably damaging	Het
Lztfl1	C	T	9: 123,541,536 (GRCm39)	W94*	probably null	Het
Lzts3	T	C	2: 130,477,306 (GRCm39)	S381G	probably benign	Het
Mgat2	A	G	12: 69,231,444 (GRCm39)	Y6C	probably damaging	Het
Mrpl30	T	C	1: 37,934,439 (GRCm39)	I27T	probably benign	Het
Muc5b	A	T	7: 141,406,966 (GRCm39)	T1045S	unknown	Het
Nlrp4a	G	A	7: 26,148,690 (GRCm39)	R99Q	probably benign	Het
Or10g1	T	C	14: 52,647,945 (GRCm39)	Y128C	probably damaging	Het
Or5b98	A	G	19: 12,931,006 (GRCm39)	T18A	possibly damaging	Het
Phlpp1	T	C	1: 106,209,132 (GRCm39)	L495P	probably damaging	Het
Pla2g4d	T	C	2: 120,109,776 (GRCm39)	D178G	possibly damaging	Het
Prl5a1	C	G	13: 28,333,997 (GRCm39)	L167V	probably damaging	Het
Sardh	A	G	2: 27,087,651 (GRCm39)	V740A	probably benign	Het
Sbno1	T	G	5: 124,543,709 (GRCm39)	T277P	probably benign	Het
Slc2a1	T	C	4: 118,993,462 (GRCm39)	V433A	probably damaging	Het
Slc4a10	T	C	2: 62,134,308 (GRCm39)	V1008A	possibly damaging	Het
Smarcal1	T	G	1: 72,625,179 (GRCm39)	S109A	probably benign	Het
Speg	A	G	1: 75,377,834 (GRCm39)	D864G	probably benign	Het
Steap4	T	C	5: 8,026,976 (GRCm39)	I313T	probably benign	Het
Tab2	A	T	10: 7,786,869 (GRCm39)	D614E	probably damaging	Het
Tenm4	A	G	7: 96,544,610 (GRCm39)	K2246E	probably damaging	Het
Tmem229a	C	A	6: 24,955,211 (GRCm39)	C181F	probably benign	Het
Ugdh	T	C	5: 65,574,958 (GRCm39)	Y356C	probably damaging	Het
Ugt2a1	A	G	5: 87,634,586 (GRCm39)	L7P	probably damaging	Het
Uhrf1	A	G	17: 56,619,905 (GRCm39)	D272G	possibly damaging	Het
Vmn1r206	T	A	13: 22,804,827 (GRCm39)	I127F	probably damaging	Het
Vmn2r106	T	C	17: 20,505,490 (GRCm39)	Y68C	possibly damaging	Het
Zfand6	G	A	7: 84,283,141 (GRCm39)	P72L	not run	Het

Other mutations in Timm23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00984:Timm23	APN	14	31,902,612 (GRCm39)	missense	probably benign	0.34
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
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

Predicted Primers

PCR Primer
(F):5'- CATACTCAGTGAGCCACCAAGG -3'
(R):5'- AGAGCAGCTTTCTCTAAGATACC -3'

Sequencing Primer
(F):5'- TTCCACTCACTGAGGGCAAG -3'
(R):5'- ATATTTTACAGCACTTTTATCCCCG -3'

Posted On

2019-11-12