Mutagenetix > Incidental Mutation

Incidental Mutation 'R5313:Timm10b'

405701

Institutional Source

Beutler Lab

Gene Symbol

Timm10b

Ensembl Gene

ENSMUSG00000089847

Gene Name

translocase of inner mitochondrial membrane 10B

Synonyms

Fracture Callus 1, FxC1, Tim9b, Tim10b

MMRRC Submission

042896-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.201) question?

Stock #

R5313 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105289263-105292844 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 105290287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 60 (L60P)

Ref Sequence

ENSEMBL: ENSMUSP00000148176 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000058333
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000057061
Gene: ENSMUSG00000089847
AA Change: L60P

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 damaging
Transcript: ENSMUST00000106780
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102392
Gene: ENSMUSG00000089847
AA Change: L60P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106783
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102395
Gene: ENSMUSG00000089847
AA Change: L60P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106784
AA Change: S47P

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably damaging
Transcript: ENSMUST00000106785
AA Change: L60P

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

SMART Domains

Protein: ENSMUSP00000102397
Gene: ENSMUSG00000110234
AA Change: L60P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106786
AA Change: L60P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102398
Gene: ENSMUSG00000110234
AA Change: L60P

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 damaging
Transcript: ENSMUST00000142874
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000142363
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

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

probably damaging
Transcript: ENSMUST00000149819
AA Change: L28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000211054
AA Change: L60P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000209588
AA Change: L28P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

unknown
Transcript: ENSMUST00000210893
AA Change: L20P

Predicted Effect

probably damaging
Transcript: ENSMUST00000210350
AA Change: L60P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000209550

Predicted Effect

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Predicted Effect

probably benign
Transcript: ENSMUST00000150479

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	C	11: 46,022,603 (GRCm39)	C519R	probably damaging	Het
Adgra3	A	T	5: 50,118,651 (GRCm39)	S966T	probably benign	Het
Adgrl2	A	G	3: 148,529,349 (GRCm39)	Y1115H	probably damaging	Het
Adgrl3	A	T	5: 81,874,516 (GRCm39)	I938F	probably damaging	Het
Arhgef17	A	C	7: 100,578,131 (GRCm39)	L939W	probably damaging	Het
Arhgef18	A	G	8: 3,501,629 (GRCm39)		probably null	Het
Armh3	G	A	19: 45,807,414 (GRCm39)	R661W	probably damaging	Het
Cacna1d	A	C	14: 30,068,798 (GRCm39)	I147S	probably benign	Het
Cdc42bpa	T	G	1: 179,911,998 (GRCm39)	D525E	probably benign	Het
Cdh6	T	A	15: 13,034,723 (GRCm39)	I646F	probably damaging	Het
Col6a5	T	G	9: 105,822,743 (GRCm39)	I205L	unknown	Het
Cpox	T	A	16: 58,498,311 (GRCm39)	Y381*	probably null	Het
Ctsc	T	C	7: 87,958,761 (GRCm39)	V347A	probably damaging	Het
Dnaaf9	C	T	2: 130,551,188 (GRCm39)	E1027K	probably damaging	Het
Ephb6	A	T	6: 41,593,727 (GRCm39)	T537S	possibly damaging	Het
Fam135a	T	C	1: 24,067,666 (GRCm39)	I168V	possibly damaging	Het
Fam234b	T	A	6: 135,186,185 (GRCm39)	D64E	possibly damaging	Het
Fgfr2	A	T	7: 129,842,970 (GRCm39)	D157E	probably benign	Het
Fstl5	A	T	3: 76,500,812 (GRCm39)	I414F	possibly damaging	Het
Glp2r	T	C	11: 67,648,357 (GRCm39)	D115G	probably damaging	Het
Gpr85	A	T	6: 13,836,301 (GRCm39)	V201D	probably damaging	Het
Ido1	A	C	8: 25,077,794 (GRCm39)	I91S	probably damaging	Het
Ism2	G	A	12: 87,326,536 (GRCm39)	P468S	probably damaging	Het
Map2	A	G	1: 66,464,538 (GRCm39)	K1643E	probably damaging	Het
Or10ak8	A	G	4: 118,773,995 (GRCm39)	V223A	probably benign	Het
Or4c122	C	T	2: 89,079,721 (GRCm39)	E106K	probably benign	Het
Or5b112	G	A	19: 13,319,429 (GRCm39)	M102I	probably benign	Het
Or6c2	C	T	10: 129,362,950 (GRCm39)	P285S	probably damaging	Het
Ppargc1a	A	G	5: 51,615,581 (GRCm39)		probably benign	Het
Prpf4b	T	C	13: 35,078,532 (GRCm39)	V714A	probably damaging	Het
Septin8	C	T	11: 53,426,809 (GRCm39)	T190I	probably damaging	Het
Slc18a2	A	G	19: 59,282,275 (GRCm39)	K494R	probably benign	Het
Slc34a2	A	T	5: 53,226,681 (GRCm39)	K542N	probably damaging	Het
Snd1	C	A	6: 28,668,600 (GRCm39)	T429K	probably benign	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Tmprss11a	A	T	5: 86,559,674 (GRCm39)	Y373N	probably damaging	Het
Usp17la	T	A	7: 104,510,457 (GRCm39)	V354D	probably benign	Het
Zbtb7b	G	T	3: 89,288,626 (GRCm39)	T64K	probably damaging	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
IGL02689:Timm10b	APN	7	105,289,839 (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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAGTTGACAACGTGACG -3'
(R):5'- GTACACATTTAGATAAGCCCAAGG -3'

Sequencing Primer
(F):5'- GTTGACAACGTGACGTGACACC -3'
(R):5'- TTAGATAAGCCCAAGGTCCATAG -3'

Posted On

2016-07-22