Mutagenetix > Incidental Mutation

Incidental Mutation 'R0635:Timm10b'

56604

Institutional Source

Beutler Lab

Gene Symbol

Timm10b

Ensembl Gene

ENSMUSG00000089847

Gene Name

translocase of inner mitochondrial membrane 10B

Synonyms

FxC1, Fracture Callus 1, Tim9b, Tim10b

MMRRC Submission

038824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R0635 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

105640056-105643637 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 105640688 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148176 (fasta)

Gene Model

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

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: 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

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

noncoding transcript
Transcript: ENSMUST00000126589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127759

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127853

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: ENSMUST00000150479

Predicted Effect

probably benign
Transcript: ENSMUST00000140577

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142173

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134613

Predicted Effect

probably benign
Transcript: ENSMUST00000209550

Predicted Effect

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140385

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

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 benign
Transcript: ENSMUST00000149819

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,143	L369S	probably benign	Het
4932429P05Rik	T	C	X: 89,752,522		probably benign	Het
5730455P16Rik	A	T	11: 80,374,065		probably benign	Het
Adamts15	A	G	9: 30,904,770	L631P	probably damaging	Het
Adamts17	T	C	7: 66,908,605	F266L	probably damaging	Het
Adgrb1	C	A	15: 74,540,892	Q488K	possibly damaging	Het
Cep290	A	G	10: 100,492,676	D109G	probably damaging	Het
Chil5	A	T	3: 106,017,203	Y229N	possibly damaging	Het
Cntnap1	A	G	11: 101,183,459	T742A	probably benign	Het
Col6a3	A	T	1: 90,808,086		probably null	Het
Col6a5	G	A	9: 105,928,606	P1034S	unknown	Het
Daxx	T	A	17: 33,912,644	D442E	probably benign	Het
Dmxl1	T	C	18: 49,851,423		probably benign	Het
Dnah11	A	G	12: 118,007,996	F2942S	probably damaging	Het
Fam71a	T	C	1: 191,163,727	T240A	probably benign	Het
Glg1	A	G	8: 111,163,764		probably benign	Het
Gm10272	G	A	10: 77,706,701		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Haao	A	G	17: 83,838,574	F83S	probably damaging	Het
Hdgfl2	T	A	17: 56,096,057	L177Q	probably damaging	Het
Hrh1	T	C	6: 114,480,145	V129A	probably damaging	Het
Ift43	T	A	12: 86,085,081		probably benign	Het
Il21r	T	C	7: 125,632,506	Y369H	probably damaging	Het
Il2ra	C	T	2: 11,680,366	T171M	probably benign	Het
Lao1	C	T	4: 118,968,296	R438C	probably benign	Het
Lrrcc1	G	A	3: 14,559,228	S350N	probably benign	Het
Mageb5	T	A	X: 91,779,993	Y260F	probably benign	Het
March5	A	T	19: 37,220,408	I159F	possibly damaging	Het
Mgat4a	G	A	1: 37,452,294	A282V	probably benign	Het
Mipep	G	A	14: 60,829,390	V420I	probably damaging	Het
Morc2b	A	T	17: 33,137,687	F370L	possibly damaging	Het
Mt1	A	T	8: 94,179,821		probably null	Het
Ncapd2	A	G	6: 125,173,036	V943A	probably benign	Het
Nkd2	T	C	13: 73,826,894	D58G	probably benign	Het
Nol8	C	G	13: 49,676,758	S1106C	probably benign	Het
Nrm	C	A	17: 35,864,264	Y61*	probably null	Het
Nusap1	A	G	2: 119,627,667	T95A	probably damaging	Het
Ocln	T	A	13: 100,506,236	Q197L	probably damaging	Het
Olfr495	T	A	7: 108,395,764	F215I	probably benign	Het
Oxtr	A	G	6: 112,489,200	Y200H	probably damaging	Het
Paip2b	T	C	6: 83,809,909	E115G	possibly damaging	Het
Pcm1	T	A	8: 41,267,179		probably benign	Het
Pcnt	T	C	10: 76,404,585	D1205G	probably damaging	Het
Phka1	G	A	X: 102,621,400	R186C	probably damaging	Het
Pik3cb	A	G	9: 99,064,218		probably benign	Het
Pik3r1	C	T	13: 101,757,418	R81K	probably benign	Het
Ppa1	A	G	10: 61,665,440	D162G	probably benign	Het
Ppa1	A	G	10: 61,666,970	R191G	probably damaging	Het
Prss22	T	A	17: 23,996,688	T87S	probably benign	Het
Rgr	T	A	14: 37,038,947	R218*	probably null	Het
Rreb1	A	T	13: 37,941,564	Q1282L	possibly damaging	Het
Scel	T	A	14: 103,583,139		probably null	Het
Sema6b	A	G	17: 56,129,971		probably null	Het
Slc4a1	T	C	11: 102,352,672	E711G	possibly damaging	Het
Snx19	C	A	9: 30,428,810	L415M	probably damaging	Het
Snx19	T	G	9: 30,428,811	L415R	probably damaging	Het
Specc1	G	A	11: 62,118,903	R495Q	probably damaging	Het
Tead1	T	C	7: 112,891,706		probably benign	Het
Ubxn7	T	A	16: 32,367,417		probably benign	Het
Vmn2r116	T	A	17: 23,386,887	Y258N	possibly damaging	Het
Vmn2r77	T	A	7: 86,811,175	F570I	probably benign	Het
Vmn2r98	T	C	17: 19,080,497	V587A	probably benign	Het
Zfp398	T	C	6: 47,863,140	I101T	probably damaging	Het
Zfp808	T	A	13: 62,172,419	H487Q	probably damaging	Het

Other mutations in Timm10b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:Timm10b	APN	7	105641138	nonsense	probably null
IGL02642:Timm10b	APN	7	105668438	splice site	probably benign
IGL02689:Timm10b	APN	7	105640632	splice site	probably benign
R0413:Timm10b	UTSW	7	105678330	missense	probably benign	0.11
R1761:Timm10b	UTSW	7	105683708	nonsense	probably null
R4525:Timm10b	UTSW	7	105682806	missense	probably benign	0.00
R4527:Timm10b	UTSW	7	105682806	missense	probably benign	0.00
R4528:Timm10b	UTSW	7	105682806	missense	probably benign	0.00
R4839:Timm10b	UTSW	7	105684012	missense	probably damaging	1.00
R5007:Timm10b	UTSW	7	105641091	missense	probably damaging	1.00
R5313:Timm10b	UTSW	7	105641080	missense	probably damaging	1.00
R5632:Timm10b	UTSW	7	105641122	missense	probably damaging	1.00
R7153:Timm10b	UTSW	7	105640880	missense	unknown
R8198:Timm10b	UTSW	7	105678330	nonsense	probably null
R8305:Timm10b	UTSW	7	105640669	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- GACATGCTCTCTGGGCAGAAGAAG -3'
(R):5'- GGTGTCACGTCACGTTGTCAACTC -3'

Sequencing Primer
(F):5'- CTGGAGCTACGCCTTCAAG -3'
(R):5'- ACGTTGTCAACTCTGGGAC -3'

Posted On

2013-07-11