Mutagenetix > Incidental Mutation

Incidental Mutation 'R9784:Timm8b'

734220

Institutional Source

Beutler Lab

Gene Symbol

Timm8b

Ensembl Gene

ENSMUSG00000039016

Gene Name

translocase of inner mitochondrial membrane 8B

Synonyms

Tim8b

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

R9784 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

50515227-50516620 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 50516273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 42 (E42G)

Ref Sequence

ENSEMBL: ENSMUSP00000039335 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000175] [ENSMUST00000044051] [ENSMUST00000131351] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000155435] [ENSMUST00000171462]

AlphaFold

P62077

Predicted Effect

probably benign
Transcript: ENSMUST00000000175

SMART Domains

Protein: ENSMUSP00000000175
Gene: ENSMUSG00000000171

Domain	Start	End	E-Value	Type
low complexity region	16	27	N/A	INTRINSIC
Pfam:CybS	33	158	7.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000044051
AA Change: E42G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000039335
Gene: ENSMUSG00000039016
AA Change: E42G

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	14	76	5.1e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131351

SMART Domains

Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC
low complexity region	198	216	N/A	INTRINSIC
low complexity region	224	256	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145139

Predicted Effect

probably benign
Transcript: ENSMUST00000147671

SMART Domains

Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155435

SMART Domains

Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
low complexity region	142	175	N/A	INTRINSIC
low complexity region	198	214	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171462

SMART Domains

Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820

Domain	Start	End	E-Value	Type
Pfam:NKAP	86	163	5.2e-26	PFAM
low complexity region	198	216	N/A	INTRINSIC
low complexity region	224	256	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	G	A	5: 113,338,527 (GRCm39)	P495L	possibly damaging	Het
Acly	C	T	11: 100,389,112 (GRCm39)	A557T	probably benign	Het
Adgrl4	A	T	3: 151,214,948 (GRCm39)	T446S	probably damaging	Het
AK157302	A	G	13: 21,679,768 (GRCm39)	E98G	probably damaging	Het
Akap6	A	T	12: 53,187,853 (GRCm39)	T1756S	probably damaging	Het
Aldh1l1	A	G	6: 90,541,424 (GRCm39)	T273A	probably benign	Het
Aldh1l2	T	A	10: 83,342,614 (GRCm39)		probably null	Het
Alox12	T	C	11: 70,143,665 (GRCm39)	E201G	possibly damaging	Het
Arhgef16	A	G	4: 154,371,422 (GRCm39)	V257A	probably damaging	Het
Asxl3	C	T	18: 22,650,311 (GRCm39)	L767F	probably benign	Het
Atxn7l2	T	C	3: 108,110,565 (GRCm39)	K692R	probably null	Het
Btbd2	T	C	10: 80,484,481 (GRCm39)	D145G	probably damaging	Het
Cacna1b	A	T	2: 24,651,801 (GRCm39)	M126K	possibly damaging	Het
Cacna2d2	T	A	9: 107,404,346 (GRCm39)	C1081S	probably benign	Het
Cass4	T	C	2: 172,269,753 (GRCm39)	S612P	probably benign	Het
Cd209d	A	G	8: 3,926,337 (GRCm39)	S123P	probably damaging	Het
Cep112	T	C	11: 108,461,217 (GRCm39)	S665P	probably damaging	Het
Cnp	C	T	11: 100,467,437 (GRCm39)	R127W	probably damaging	Het
Col9a2	A	T	4: 120,898,226 (GRCm39)	D46V	unknown	Het
Cyp1a2	T	A	9: 57,587,562 (GRCm39)	N336I	probably benign	Het
Cyp2c37	A	G	19: 39,988,943 (GRCm39)	T301A	possibly damaging	Het
Dhtkd1	T	A	2: 5,935,622 (GRCm39)	E163D	probably benign	Het
Dido1	A	T	2: 180,325,354 (GRCm39)	F611L	probably benign	Het
Dnah9	T	A	11: 65,975,960 (GRCm39)	N1363I	probably damaging	Het
Drg2	A	G	11: 60,358,548 (GRCm39)	K331R	probably benign	Het
Fam171b	T	A	2: 83,690,787 (GRCm39)	I250K	probably damaging	Het
Fem1al	A	T	11: 29,775,253 (GRCm39)	V68E	probably damaging	Het
Fut8	T	A	12: 77,459,613 (GRCm39)	I242N	probably damaging	Het
Glyat	T	C	19: 12,628,844 (GRCm39)	V247A	probably benign	Het
Gucy2e	T	C	11: 69,123,516 (GRCm39)	N461S	probably benign	Het
Hif3a	T	A	7: 16,771,076 (GRCm39)	H627L	probably benign	Het
Ighv8-5	T	A	12: 115,031,228 (GRCm39)	T104S	probably benign	Het
Ighv8-9	C	T	12: 115,431,994 (GRCm39)	V106M	probably benign	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Katna1	G	C	10: 7,638,590 (GRCm39)	E440D	probably null	Het
Kmt2c	T	C	5: 25,549,959 (GRCm39)	R1341G	probably damaging	Het
Krt14	C	T	11: 100,097,966 (GRCm39)	G106S	unknown	Het
Krt39	A	G	11: 99,409,188 (GRCm39)	C238R	possibly damaging	Het
Mak	C	T	13: 41,202,836 (GRCm39)	S204N	possibly damaging	Het
Map3k5	A	G	10: 19,810,812 (GRCm39)	Y154C	probably damaging	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Mgst1	A	T	6: 138,124,799 (GRCm39)	R38W	probably damaging	Het
Midn	A	G	10: 79,992,247 (GRCm39)	E433G	probably damaging	Het
Muc2	T	A	7: 141,280,785 (GRCm39)	C380*	probably null	Het
Nans	G	T	4: 46,499,129 (GRCm39)	K145N	possibly damaging	Het
Nbeal1	G	A	1: 60,299,741 (GRCm39)	W1359*	probably null	Het
Neo1	T	A	9: 58,889,503 (GRCm39)	E256V	probably benign	Het
Nkd1	C	A	8: 89,318,330 (GRCm39)	D322E	probably damaging	Het
Olfm4	T	C	14: 80,249,348 (GRCm39)	V155A	probably damaging	Het
Opa1	C	A	16: 29,437,029 (GRCm39)	S646*	probably null	Het
Or1p4-ps1	G	T	11: 74,208,709 (GRCm39)	C286F	unknown	Het
Or4f7	A	G	2: 111,644,604 (GRCm39)	S156P	probably damaging	Het
Or51ab3	T	A	7: 103,201,266 (GRCm39)	H91Q	probably benign	Het
Or52z1	T	A	7: 103,436,732 (GRCm39)	I251F	probably benign	Het
Or5b107	T	A	19: 13,142,813 (GRCm39)	L145Q	probably damaging	Het
Or5b12b	G	A	19: 12,861,874 (GRCm39)	V210M	probably benign	Het
Or7g29	A	T	9: 19,287,116 (GRCm39)	D20E	probably damaging	Het
Pcdh15	A	T	10: 74,467,212 (GRCm39)	H1743L	probably benign	Het
Ppp1r13b	T	C	12: 111,810,119 (GRCm39)	T230A	probably benign	Het
Ptf1a	G	T	2: 19,451,381 (GRCm39)	R237L	probably benign	Het
Ripk4	G	A	16: 97,549,306 (GRCm39)	P250L	possibly damaging	Het
Ropn1l	T	C	15: 31,453,649 (GRCm39)	H14R		Het
Setdb1	T	C	3: 95,233,173 (GRCm39)	S1122G	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Slc22a18	T	A	7: 143,046,678 (GRCm39)	M274K	probably benign	Het
Spink5	T	G	18: 44,119,490 (GRCm39)	F267C	probably damaging	Het
Stau1	T	C	2: 166,791,695 (GRCm39)	M481V	probably benign	Het
Stk39	C	T	2: 68,198,775 (GRCm39)	G281E	probably damaging	Het
Stt3a	A	T	9: 36,670,079 (GRCm39)	L119Q	probably damaging	Het
Stx18	C	T	5: 38,196,635 (GRCm39)		probably benign	Het
Tgfbr3	G	T	5: 107,297,799 (GRCm39)	N200K	probably benign	Het
Togaram1	T	A	12: 65,014,168 (GRCm39)	L473*	probably null	Het
Trappc12	A	G	12: 28,797,457 (GRCm39)	I25T	probably benign	Het
Trim33	T	C	3: 103,244,823 (GRCm39)	S737P	possibly damaging	Het
Trmt1	A	C	8: 85,424,330 (GRCm39)	H455P	probably damaging	Het
Trpc1	C	T	9: 95,599,646 (GRCm39)	R471H	possibly damaging	Het
Ttll2	T	A	17: 7,618,707 (GRCm39)	T407S	probably benign	Het
Unc45b	T	A	11: 82,816,986 (GRCm39)	N475K	probably damaging	Het
Usp48	T	A	4: 137,321,812 (GRCm39)	I40N	probably benign	Het
Wdr7	T	G	18: 64,037,236 (GRCm39)	V1220G	probably damaging	Het
Zfp830	C	T	11: 82,655,805 (GRCm39)	T203I	possibly damaging	Het
Zfp955a	T	A	17: 33,461,149 (GRCm39)	I328F	probably damaging	Het

Other mutations in Timm8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Timm8b	APN	9	50,516,294 (GRCm39)	missense	possibly damaging	0.91
R0052:Timm8b	UTSW	9	50,516,330 (GRCm39)	missense	possibly damaging	0.95
R0052:Timm8b	UTSW	9	50,516,330 (GRCm39)	missense	possibly damaging	0.95
R6938:Timm8b	UTSW	9	50,516,294 (GRCm39)	missense	possibly damaging	0.91

Predicted Primers

PCR Primer
(F):5'- AATTTACTGATCTGGGGCTGTTAC -3'
(R):5'- GACAGGTTGGCAGGTCTTTC -3'

Sequencing Primer
(F):5'- GGGCTGTTACTGGTGACAAAG -3'
(R):5'- GGCCATTCAATCTGCTTGGTAAC -3'

Posted On

2022-11-14