Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02689:Timm10b'

303678

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Timm10b

Ensembl Gene

ENSMUSG00000089847

Gene Name

translocase of inner mitochondrial membrane 10B

Synonyms

Fracture Callus 1, FxC1, Tim9b, Tim10b

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL02689

Quality Score

Status

Chromosome

Chromosomal Location

105289263-105292844 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 105289839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148176 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033171] [ENSMUST00000058333] [ENSMUST00000084782] [ENSMUST00000106780] [ENSMUST00000106783] [ENSMUST00000106784] [ENSMUST00000106786] [ENSMUST00000140577] [ENSMUST00000142363] [ENSMUST00000142874] [ENSMUST00000106785] [ENSMUST00000131446] [ENSMUST00000133519] [ENSMUST00000137931] [ENSMUST00000150479] [ENSMUST00000149819] [ENSMUST00000151193] [ENSMUST00000210350] [ENSMUST00000209588] [ENSMUST00000211054] [ENSMUST00000210911] [ENSMUST00000210312] [ENSMUST00000209550] [ENSMUST00000209445] [ENSMUST00000157028]

AlphaFold

Q9WV96

Predicted Effect

probably benign
Transcript: ENSMUST00000033171

SMART Domains

Protein: ENSMUSP00000033171
Gene: ENSMUSG00000030881

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000058333

SMART Domains

Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082963

Predicted Effect

probably benign
Transcript: ENSMUST00000084782

SMART Domains

Protein: ENSMUSP00000081840
Gene: ENSMUSG00000030881

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	316	1.72e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106780

SMART Domains

Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106783

SMART Domains

Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	8.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106784

Predicted Effect

probably benign
Transcript: ENSMUST00000106786

SMART Domains

Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	3	66	3.6e-18	PFAM
low complexity region	89	107	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

probably benign
Transcript: ENSMUST00000106785

SMART Domains

Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	2	67	3.8e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

probably benign
Transcript: ENSMUST00000131446

SMART Domains

Protein: ENSMUSP00000120387
Gene: ENSMUSG00000030881

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	316	1.72e-123	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133519

SMART Domains

Protein: ENSMUSP00000121649
Gene: ENSMUSG00000030881

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Arfaptin	89	209	5.49e-17	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137931

SMART Domains

Protein: ENSMUSP00000118616
Gene: ENSMUSG00000030881

Domain	Start	End	E-Value	Type
low complexity region	52	61	N/A	INTRINSIC
low complexity region	65	81	N/A	INTRINSIC
Pfam:Arfaptin	89	153	1.1e-11	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000150479
AA Change: S14G

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000209550

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	G	T	4: 86,835,692 (GRCm39)	A235S	probably benign	Het
Add2	A	G	6: 86,084,388 (GRCm39)	I479V	possibly damaging	Het
Anapc11	T	A	11: 120,490,168 (GRCm39)	M28K	probably benign	Het
Anapc15-ps	T	C	10: 95,508,993 (GRCm39)	S87G	probably benign	Het
Atraid	T	C	5: 31,209,826 (GRCm39)	L46P	probably damaging	Het
Ccdc80	T	A	16: 44,916,772 (GRCm39)	Y509*	probably null	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cecr2	T	A	6: 120,739,128 (GRCm39)	L1257Q	probably damaging	Het
Csn1s2b	A	G	5: 87,957,780 (GRCm39)	I5V	probably benign	Het
Dhps	T	C	8: 85,800,379 (GRCm39)	Y221H	possibly damaging	Het
Dmxl1	T	C	18: 49,997,962 (GRCm39)	S717P	probably damaging	Het
Dppa5a	G	T	9: 78,275,113 (GRCm39)	S63Y	probably damaging	Het
Eif3l	A	T	15: 78,970,719 (GRCm39)	D331V	possibly damaging	Het
Folh1	G	T	7: 86,412,253 (GRCm39)		probably null	Het
Gbp9	G	T	5: 105,253,662 (GRCm39)	Q18K	probably benign	Het
Grm5	A	G	7: 87,251,918 (GRCm39)	K56R	probably damaging	Het
H2-M3	T	A	17: 37,581,432 (GRCm39)	Y31*	probably null	Het
Herc2	T	C	7: 55,815,031 (GRCm39)		probably benign	Het
Itga7	G	T	10: 128,782,687 (GRCm39)	A675S	possibly damaging	Het
Lipo5	G	A	19: 33,445,186 (GRCm39)	H128Y	unknown	Het
Or2bd2	T	C	7: 6,443,574 (GRCm39)	L225P	possibly damaging	Het
Or5b121	A	G	19: 13,507,171 (GRCm39)	I89V	probably benign	Het
Pdk4	C	T	6: 5,487,408 (GRCm39)	V281I	probably benign	Het
Pkn3	G	A	2: 29,970,858 (GRCm39)	G202D	probably damaging	Het
Rcbtb1	A	G	14: 59,462,149 (GRCm39)	N260S	probably damaging	Het
Sipa1l1	T	C	12: 82,487,594 (GRCm39)	F1623L	probably benign	Het
Slfn8	A	G	11: 82,907,934 (GRCm39)	F203S	probably damaging	Het
St6gal2	T	C	17: 55,789,596 (GRCm39)	L210S	probably damaging	Het
Taf5	T	C	19: 47,065,704 (GRCm39)		probably benign	Het
Taok2	A	G	7: 126,475,270 (GRCm39)	F226S	probably damaging	Het
Tmx3	A	G	18: 90,555,240 (GRCm39)	N319S	possibly damaging	Het
Trmt1	G	T	8: 85,426,385 (GRCm39)		probably benign	Het

Other mutations in Timm10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Timm10b	APN	7	105,290,345 (GRCm39)	nonsense	probably null
IGL02642:Timm10b	APN	7	105,317,645 (GRCm39)	splice site	probably benign
R0413:Timm10b	UTSW	7	105,327,537 (GRCm39)	missense	probably benign	0.11
R0635:Timm10b	UTSW	7	105,289,895 (GRCm39)	intron	probably benign
R1761:Timm10b	UTSW	7	105,332,915 (GRCm39)	nonsense	probably null
R4525:Timm10b	UTSW	7	105,332,013 (GRCm39)	missense	probably benign	0.00
R4527:Timm10b	UTSW	7	105,332,013 (GRCm39)	missense	probably benign	0.00
R4528:Timm10b	UTSW	7	105,332,013 (GRCm39)	missense	probably benign	0.00
R4839:Timm10b	UTSW	7	105,333,219 (GRCm39)	missense	probably damaging	1.00
R5007:Timm10b	UTSW	7	105,290,298 (GRCm39)	missense	probably damaging	1.00
R5313:Timm10b	UTSW	7	105,290,287 (GRCm39)	missense	probably damaging	1.00
R5632:Timm10b	UTSW	7	105,290,329 (GRCm39)	missense	probably damaging	1.00
R7153:Timm10b	UTSW	7	105,290,087 (GRCm39)	missense	unknown
R8198:Timm10b	UTSW	7	105,327,537 (GRCm39)	nonsense	probably null
R8305:Timm10b	UTSW	7	105,289,876 (GRCm39)	intron	probably benign

Posted On

2015-04-16