Mutagenetix > Incidental Mutation

Incidental Mutation 'R0918:Timm21'

81565

Institutional Source

Beutler Lab

Gene Symbol

Timm21

Ensembl Gene

ENSMUSG00000024645

Gene Name

translocase of inner mitochondrial membrane 21

Synonyms

1700034H14Rik, 2700002I20Rik

MMRRC Submission

039068-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0918 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

84964316-84969649 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 84967387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 130 (L130V)

Ref Sequence

ENSEMBL: ENSMUSP00000025547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025547] [ENSMUST00000037718] [ENSMUST00000224467] [ENSMUST00000225445]

AlphaFold

Q8CCM6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025547
AA Change: L130V

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

SMART Domains

Protein: ENSMUSP00000025547
Gene: ENSMUSG00000024645
AA Change: L130V

Domain	Start	End	E-Value	Type
Pfam:TIM21	98	240	6.8e-51	PFAM
Pfam:Coa1	108	236	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000037718

SMART Domains

Protein: ENSMUSP00000045925
Gene: ENSMUSG00000034391

Domain	Start	End	E-Value	Type
low complexity region	35	42	N/A	INTRINSIC
FBOX	46	86	3.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223789

Predicted Effect

probably benign
Transcript: ENSMUST00000224467

Predicted Effect

probably benign
Transcript: ENSMUST00000225445

Meta Mutation Damage Score

0.7672

Coding Region Coverage

1x: 99.5%
3x: 98.7%
10x: 96.2%
20x: 90.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	T	G	3: 59,946,953 (GRCm39)	I217R	probably damaging	Het
Acp1	G	T	12: 30,955,126 (GRCm39)	S20*	probably null	Het
Adcy3	A	G	12: 4,248,360 (GRCm39)	D474G	probably benign	Het
Apob	T	C	12: 8,033,941 (GRCm39)	I217T	probably benign	Het
Cdh12	G	A	15: 21,492,685 (GRCm39)	V235I	probably damaging	Het
Cdhr5	T	A	7: 140,852,062 (GRCm39)	T197S	probably damaging	Het
Cerkl	A	G	2: 79,163,973 (GRCm39)	I449T	probably benign	Het
Cpz	A	G	5: 35,674,998 (GRCm39)	Y84H	probably damaging	Het
Drosha	T	C	15: 12,842,619 (GRCm39)		probably null	Het
Fbxo11	A	T	17: 88,305,031 (GRCm39)	N613K	probably damaging	Het
Fes	G	T	7: 80,030,953 (GRCm39)	T536K	probably damaging	Het
Gm13941	G	C	2: 110,930,945 (GRCm39)	T76R	unknown	Het
Lrp1	T	C	10: 127,429,834 (GRCm39)	E412G	probably damaging	Het
Map3k12	T	C	15: 102,412,287 (GRCm39)	I285V	probably damaging	Het
Map3k13	G	A	16: 21,744,990 (GRCm39)	D850N	probably damaging	Het
Mapk4	C	T	18: 74,103,408 (GRCm39)	V34M	probably damaging	Het
Morn1	T	A	4: 155,171,928 (GRCm39)	W43R	probably damaging	Het
Ncan	T	G	8: 70,561,039 (GRCm39)	M643L	possibly damaging	Het
Npc1l1	G	A	11: 6,168,239 (GRCm39)	T984M	probably damaging	Het
Or14c44	A	G	7: 86,062,403 (GRCm39)	T278A	probably benign	Het
Or5a3	A	G	19: 12,400,599 (GRCm39)	K309E	probably benign	Het
Or5ak4	A	G	2: 85,162,276 (GRCm39)		probably benign	Het
Or5p5	T	C	7: 107,414,418 (GRCm39)	I209T	probably benign	Het
Pcdhb22	T	C	18: 37,653,067 (GRCm39)	F255L	probably damaging	Het
Pi4ka	T	C	16: 17,103,124 (GRCm39)	D1697G	possibly damaging	Het
Pla2g12b	A	G	10: 59,257,306 (GRCm39)	D163G	probably damaging	Het
Pot1a	G	A	6: 25,756,267 (GRCm39)	T359M	possibly damaging	Het
Sass6	G	A	3: 116,397,172 (GRCm39)		probably null	Het
Scn1a	C	T	2: 66,153,651 (GRCm39)		probably null	Het
Slc38a1	A	G	15: 96,507,743 (GRCm39)	L103P	probably damaging	Het
Slc38a6	T	A	12: 73,391,559 (GRCm39)		probably null	Het
Smarca4	C	T	9: 21,547,511 (GRCm39)	P265S	probably benign	Het
Snrpa1	A	G	7: 65,720,363 (GRCm39)	T189A	probably benign	Het
Snx11	G	A	11: 96,660,104 (GRCm39)	P195L	possibly damaging	Het
Spen	T	G	4: 141,212,875 (GRCm39)	I584L	unknown	Het
Sult2a5	T	A	7: 13,359,334 (GRCm39)	H103Q	probably benign	Het
Syce1	T	C	7: 140,360,436 (GRCm39)	K50E	probably damaging	Het
Tmem132a	A	G	19: 10,835,477 (GRCm39)	S1018P	probably damaging	Het

Other mutations in Timm21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01569:Timm21	APN	18	84,969,400 (GRCm39)	missense	probably benign	0.00
R0238:Timm21	UTSW	18	84,965,791 (GRCm39)	missense	probably damaging	1.00
R0238:Timm21	UTSW	18	84,965,791 (GRCm39)	missense	probably damaging	1.00
R0656:Timm21	UTSW	18	84,967,326 (GRCm39)	missense	probably damaging	0.99
R0919:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R1384:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R1740:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R1743:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R1873:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R1875:Timm21	UTSW	18	84,967,387 (GRCm39)	missense	probably damaging	1.00
R2875:Timm21	UTSW	18	84,969,217 (GRCm39)	missense	probably benign
R5022:Timm21	UTSW	18	84,967,539 (GRCm39)	missense	possibly damaging	0.95
R5023:Timm21	UTSW	18	84,967,539 (GRCm39)	missense	possibly damaging	0.95
R7783:Timm21	UTSW	18	84,965,846 (GRCm39)	missense	possibly damaging	0.76
R8139:Timm21	UTSW	18	84,969,263 (GRCm39)	missense	probably benign	0.05
R8994:Timm21	UTSW	18	84,969,489 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACACAGTGCCAGGGTCAAAG -3'
(R):5'- AGTCACCTGCTAGGAACACCTGAAG -3'

Sequencing Primer
(F):5'- GCCAGGGTCAAAGTGCATC -3'
(R):5'- TGTGGACACACTTGTAACCTG -3'

Posted On

2013-11-07