Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02642:Timm10b'

301806

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 #

IGL02642

Quality Score

Status

Chromosome

Chromosomal Location

105289263-105292844 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 105317645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000147351 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000142874] [ENSMUST00000145988] [ENSMUST00000210312]

AlphaFold

Q9WV96

Predicted Effect

probably benign
Transcript: ENSMUST00000142874

Predicted Effect

probably benign
Transcript: ENSMUST00000145988

SMART Domains

Protein: ENSMUSP00000121261
Gene: ENSMUSG00000030882

Domain	Start	End	E-Value	Type
low complexity region	5	18	N/A	INTRINSIC
low complexity region	102	115	N/A	INTRINSIC
low complexity region	183	191	N/A	INTRINSIC
low complexity region	253	269	N/A	INTRINSIC
low complexity region	943	962	N/A	INTRINSIC
Pfam:DHC_N2	1018	1472	4.6e-50	PFAM
Pfam:AAA_6	1652	1875	2.7e-14	PFAM
low complexity region	1906	1918	N/A	INTRINSIC
Blast:AAA	1993	2196	1e-34	BLAST
Pfam:AAA_7	2362	2610	3.3e-11	PFAM
low complexity region	2697	2714	N/A	INTRINSIC
low complexity region	2722	2733	N/A	INTRINSIC
low complexity region	2800	2810	N/A	INTRINSIC
low complexity region	3116	3134	N/A	INTRINSIC
Pfam:MT	3178	3470	3.9e-16	PFAM
coiled coil region	3590	3642	N/A	INTRINSIC
coiled coil region	3816	3843	N/A	INTRINSIC
Pfam:Dynein_heavy	3976	4746	7.3e-97	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000210312

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	C	3: 153,644,720 (GRCm39)	D68G	probably damaging	Het
Amer3	A	G	1: 34,625,761 (GRCm39)		probably benign	Het
Ankrd11	A	G	8: 123,617,390 (GRCm39)	L2133P	probably damaging	Het
Bcdin3d	G	T	15: 99,368,673 (GRCm39)	H175Q	probably damaging	Het
Brd8	C	A	18: 34,741,117 (GRCm39)		probably benign	Het
C1rl	C	A	6: 124,470,806 (GRCm39)	T38N	possibly damaging	Het
Cd160	T	C	3: 96,707,927 (GRCm39)	T140A	probably benign	Het
Cdk16	T	G	X: 20,563,167 (GRCm39)	D381E	probably benign	Het
Cpq	G	A	15: 33,381,546 (GRCm39)	G303D	probably damaging	Het
Dmp1	T	C	5: 104,359,536 (GRCm39)	S71P	probably damaging	Het
Enc1	A	C	13: 97,382,042 (GRCm39)	D184A	possibly damaging	Het
Enkur	T	C	2: 21,199,198 (GRCm39)	D112G	probably benign	Het
Esrra	A	T	19: 6,890,218 (GRCm39)	V59E	possibly damaging	Het
F830016B08Rik	A	G	18: 60,433,058 (GRCm39)	N47S	probably benign	Het
Fads1	T	A	19: 10,163,785 (GRCm39)	V189D	probably damaging	Het
Fam167a	T	A	14: 63,689,721 (GRCm39)	I6N	probably damaging	Het
Fam98b	A	G	2: 117,090,793 (GRCm39)	T164A	probably benign	Het
Fhip2a	A	G	19: 57,373,782 (GRCm39)	N681D	possibly damaging	Het
Fryl	T	A	5: 73,252,809 (GRCm39)	I953L	probably benign	Het
Gm10610	T	A	7: 83,198,813 (GRCm39)		noncoding transcript	Het
Grik5	G	T	7: 24,758,408 (GRCm39)	N338K	possibly damaging	Het
Gstt2	A	G	10: 75,668,652 (GRCm39)	I72T	probably benign	Het
Gusb	T	C	5: 130,029,376 (GRCm39)		probably null	Het
Hccs	A	G	X: 168,098,588 (GRCm39)		probably benign	Het
Hoxb4	A	G	11: 96,211,050 (GRCm39)	K217E	probably damaging	Het
Hpd	C	T	5: 123,319,503 (GRCm39)	V22I	possibly damaging	Het
Ighv1-47	A	G	12: 114,954,844 (GRCm39)	Y79H	probably damaging	Het
Il7r	C	A	15: 9,513,133 (GRCm39)		probably benign	Het
Lama1	A	T	17: 68,119,361 (GRCm39)	M2613L	probably benign	Het
Lama2	G	A	10: 27,343,269 (GRCm39)	H68Y	probably damaging	Het
Lce1c	C	A	3: 92,587,845 (GRCm39)		probably benign	Het
Lmx1a	G	T	1: 167,672,192 (GRCm39)		probably benign	Het
Lrfn1	T	C	7: 28,158,113 (GRCm39)		probably benign	Het
Lrriq1	T	A	10: 103,057,322 (GRCm39)		probably null	Het
Mri1	A	T	8: 84,983,702 (GRCm39)	L63Q	probably damaging	Het
Mrps11	G	T	7: 78,438,522 (GRCm39)		probably null	Het
Mtif2	C	A	11: 29,494,395 (GRCm39)	Q666K	probably benign	Het
Mtr	A	T	13: 12,210,118 (GRCm39)		probably benign	Het
Mug1	A	G	6: 121,859,544 (GRCm39)	N1181S	probably benign	Het
Myom1	A	T	17: 71,408,093 (GRCm39)	E1209V	possibly damaging	Het
Nhsl1	A	G	10: 18,284,138 (GRCm39)	I26M	possibly damaging	Het
Nlrp1a	T	A	11: 71,014,358 (GRCm39)	K297N	probably benign	Het
Obox5	T	C	7: 15,491,972 (GRCm39)	V129A	probably benign	Het
Pex16	C	T	2: 92,206,981 (GRCm39)	A53V	probably damaging	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Pip5k1b	G	T	19: 24,323,731 (GRCm39)	H406N	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Plcxd3	T	C	15: 4,546,122 (GRCm39)	F42S	possibly damaging	Het
Pnpla7	T	C	2: 24,940,288 (GRCm39)	F1056L	probably benign	Het
Rapgef1	T	C	2: 29,590,872 (GRCm39)		probably benign	Het
Rdh11	G	A	12: 79,232,110 (GRCm39)		probably benign	Het
Serac1	A	G	17: 6,096,021 (GRCm39)	F576S	possibly damaging	Het
Slc45a4	A	T	15: 73,458,664 (GRCm39)	M295K	probably benign	Het
Taf1c	T	C	8: 120,325,796 (GRCm39)	T689A	probably benign	Het
Tle5	A	T	10: 81,397,126 (GRCm39)	Q34L	possibly damaging	Het
Tnc	A	T	4: 63,883,816 (GRCm39)		probably benign	Het
Toporsl	T	C	4: 52,611,114 (GRCm39)	W336R	probably benign	Het
Usp54	C	A	14: 20,615,140 (GRCm39)		probably benign	Het
Vmn1r233	T	C	17: 21,214,291 (GRCm39)	R220G	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
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
R8305:Timm10b	UTSW	7	105,289,876 (GRCm39)	intron	probably benign

Posted On

2015-04-16