Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Timm10b'

656469

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

067716-MU

Accession Numbers

Essential gene?

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

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

105289263-105292844 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 105289876 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] [ENSMUST00000106785] [ENSMUST00000106786] [ENSMUST00000131446] [ENSMUST00000133519] [ENSMUST00000137931] [ENSMUST00000140577] [ENSMUST00000142363] [ENSMUST00000142874] [ENSMUST00000149819] [ENSMUST00000150479] [ENSMUST00000151193] [ENSMUST00000157028] [ENSMUST00000209445] [ENSMUST00000209550] [ENSMUST00000209588] [ENSMUST00000210312] [ENSMUST00000210350] [ENSMUST00000210911] [ENSMUST00000211054]

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

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

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 benign
Transcript: ENSMUST00000140577

Predicted Effect

probably benign
Transcript: ENSMUST00000142363

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

probably benign
Transcript: ENSMUST00000149819

Predicted Effect

unknown
Transcript: ENSMUST00000150479
AA Change: F26S

Predicted Effect

probably benign
Transcript: ENSMUST00000151193

Predicted Effect

probably benign
Transcript: ENSMUST00000157028

Predicted Effect

probably benign
Transcript: ENSMUST00000209445

Predicted Effect

probably benign
Transcript: ENSMUST00000209550

Predicted Effect

probably benign
Transcript: ENSMUST00000209588

Predicted Effect

probably benign
Transcript: ENSMUST00000209870

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

Predicted Effect

probably benign
Transcript: ENSMUST00000210350

Predicted Effect

probably benign
Transcript: ENSMUST00000210893

Predicted Effect

probably benign
Transcript: ENSMUST00000210911

Predicted Effect

probably benign
Transcript: ENSMUST00000211054

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 64,208,844 (GRCm39)	E243K	possibly damaging	Het
Accsl	A	T	2: 93,696,423 (GRCm39)	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744 (GRCm39)	F90L	probably benign	Het
Adam5	G	A	8: 25,300,719 (GRCm39)	A270V	possibly damaging	Het
Angptl3	A	G	4: 98,919,548 (GRCm39)	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,780,219 (GRCm39)	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,152,453 (GRCm39)	M1K	probably null	Het
Arih1	T	A	9: 59,303,770 (GRCm39)	Q445L	probably benign	Het
Asb14	A	T	14: 26,634,054 (GRCm39)	I420L	probably benign	Het
Bbs2	A	C	8: 94,800,953 (GRCm39)	V626G	probably damaging	Het
Cep290	C	A	10: 100,380,796 (GRCm39)	A1678D	probably benign	Het
Cilp	G	A	9: 65,186,286 (GRCm39)	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,464,927 (GRCm39)		probably benign	Het
Clca3b	T	A	3: 144,531,698 (GRCm39)	N702I	probably damaging	Het
Col24a1	T	C	3: 145,179,937 (GRCm39)	V1143A	probably benign	Het
Cux1	T	C	5: 136,388,863 (GRCm39)	T223A	probably benign	Het
Defa30	A	T	8: 21,625,475 (GRCm39)	T80S	probably benign	Het
Dennd1a	G	A	2: 37,748,093 (GRCm39)	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,480,984 (GRCm39)	T675I	probably damaging	Het
Emc9	A	G	14: 55,822,556 (GRCm39)	V4A	probably damaging	Het
Enpp3	C	G	10: 24,700,827 (GRCm39)		probably null	Het
Fam117b	A	G	1: 59,952,782 (GRCm39)	T154A	probably benign	Het
Filip1	G	T	9: 79,727,757 (GRCm39)	Y287*	probably null	Het
Flt3	T	C	5: 147,284,864 (GRCm39)	D751G	probably damaging	Het
Frem1	T	A	4: 82,918,226 (GRCm39)	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441 (GRCm39)		probably benign	Het
Gm39115	A	G	7: 141,689,360 (GRCm39)	C138R	unknown	Het
Gm7356	T	A	17: 14,221,699 (GRCm39)	Y110F	probably benign	Het
Igf2r	T	C	17: 12,952,747 (GRCm39)	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,817,206 (GRCm39)	E103D	probably benign	Het
Igsf11	C	A	16: 38,827,586 (GRCm39)	T48N	probably damaging	Het
Itpkc	A	T	7: 26,913,944 (GRCm39)	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,600,304 (GRCm39)	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,595,132 (GRCm39)	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,197 (GRCm39)	C563*	probably null	Het
Kcnu1	T	C	8: 26,382,018 (GRCm39)	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825 (GRCm39)	V45A	probably damaging	Het
Macf1	A	T	4: 123,289,414 (GRCm39)		probably benign	Het
Map3k19	T	A	1: 127,745,007 (GRCm39)	E1177D		Het
Mdn1	G	T	4: 32,725,107 (GRCm39)	L2575F	probably benign	Het
Mga	T	A	2: 119,776,800 (GRCm39)	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,588,840 (GRCm39)	Y161H	probably damaging	Het
Or10al3	T	A	17: 38,012,389 (GRCm39)	M276K	probably benign	Het
Or14c44	G	T	7: 86,061,987 (GRCm39)	C139F	probably damaging	Het
Or2n1	C	A	17: 38,486,464 (GRCm39)	T163K	probably damaging	Het
Pcdhb14	T	A	18: 37,583,075 (GRCm39)	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,821,707 (GRCm39)	V167G	probably damaging	Het
Plin5	T	C	17: 56,422,221 (GRCm39)	D146G	probably benign	Het
Plxna4	C	T	6: 32,188,000 (GRCm39)	G879R	possibly damaging	Het
Prss58	C	T	6: 40,872,594 (GRCm39)	A171T	probably benign	Het
Pum1	A	G	4: 130,499,231 (GRCm39)	I1016V	probably benign	Het
Rbm43	A	G	2: 51,816,712 (GRCm39)	V85A	probably damaging	Het
Rdh16f2	T	A	10: 127,712,864 (GRCm39)	D287E	probably damaging	Het
Rptor	T	A	11: 119,702,812 (GRCm39)	L393Q	probably damaging	Het
Sbf2	T	G	7: 109,970,825 (GRCm39)	H857P	possibly damaging	Het
Scn8a	A	C	15: 100,938,387 (GRCm39)	T1919P	probably benign	Het
Sema6b	C	T	17: 56,434,084 (GRCm39)	G377E	probably damaging	Het
Senp7	T	A	16: 55,975,603 (GRCm39)	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,380,901 (GRCm39)	I535F	probably benign	Het
Sptbn2	T	A	19: 4,779,158 (GRCm39)	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,083,999 (GRCm39)	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,296,660 (GRCm39)	V201A	possibly damaging	Het
Ttc23	A	C	7: 67,312,135 (GRCm39)	D14A	probably damaging	Het
Usp32	A	T	11: 84,923,011 (GRCm39)	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,867,613 (GRCm39)	H79Q	probably damaging	Het
Vps13d	A	G	4: 144,818,858 (GRCm39)	I3047T		Het
Zan	T	C	5: 137,448,813 (GRCm39)	E1680G	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- TCTGAGAGCTCTAACCTCCC -3'
(R):5'- ACGTCACGTTGTCAACTCTGG -3'

Sequencing Primer
(F):5'- TGATGGAGCAGCAGCAGCAGCA -3'
(R):5'- ACGTTGTCAACTCTGGGACCC -3'

Posted On

2020-11-23