Mutagenetix > Incidental Mutation

Incidental Mutation 'R8281:Tomm20l'

638212

Institutional Source

Beutler Lab

Gene Symbol

Tomm20l

Ensembl Gene

ENSMUSG00000021078

Gene Name

translocase of outer mitochondrial membrane 20-like

Synonyms

4930553D19Rik

MMRRC Submission

067704-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8281 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71158202-71169995 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71158241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000021482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021482]

AlphaFold

Q9D4V6

Predicted Effect

probably benign
Transcript: ENSMUST00000021482
AA Change: V8A

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021482
Gene: ENSMUSG00000021078
AA Change: V8A

Domain	Start	End	E-Value	Type
Pfam:MAS20	14	128	7.6e-35	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	G	A	14: 68,745,334 (GRCm39)	T630I	possibly damaging	Het
Adgrf3	T	C	5: 30,402,301 (GRCm39)	S576G	possibly damaging	Het
Asxl1	A	G	2: 153,241,321 (GRCm39)	R625G	probably damaging	Het
Atp1a1	A	G	3: 101,486,940 (GRCm39)	F916L	probably benign	Het
Axl	C	T	7: 25,463,379 (GRCm39)	D633N	probably benign	Het
Ccdc168	T	G	1: 44,095,698 (GRCm39)	D1800A	possibly damaging	Het
Chd9	A	G	8: 91,763,225 (GRCm39)	D2350G	probably damaging	Het
Cic	G	A	7: 24,971,249 (GRCm39)	V327I	probably benign	Het
Crym	T	A	7: 119,801,250 (GRCm39)		probably benign	Het
Cyp3a13	G	C	5: 137,892,559 (GRCm39)	S495C	probably benign	Het
D5Ertd579e	A	T	5: 36,770,664 (GRCm39)	F137I		Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Drc7	G	A	8: 95,788,805 (GRCm39)	E288K	possibly damaging	Het
Epb41l4a	T	C	18: 34,011,998 (GRCm39)	E174G	probably damaging	Het
Ern2	T	C	7: 121,769,483 (GRCm39)	R848G	probably damaging	Het
F13b	G	T	1: 139,438,689 (GRCm39)	R364S	probably benign	Het
F2rl1	A	G	13: 95,650,585 (GRCm39)	L99P	probably damaging	Het
Fam193a	C	A	5: 34,600,780 (GRCm39)	N171K	unknown	Het
Fst	A	G	13: 114,591,777 (GRCm39)	S201P	probably benign	Het
Gm10110	C	T	14: 90,135,677 (GRCm39)	V76M	noncoding transcript	Het
Gm8232	A	G	14: 44,674,548 (GRCm39)	I182V		Het
Iqca1l	T	A	5: 24,754,008 (GRCm39)	H417L	probably benign	Het
Kalrn	C	T	16: 33,855,431 (GRCm39)	W1956*	probably null	Het
Klk1b16	A	G	7: 43,790,971 (GRCm39)	M258V	probably benign	Het
Lta4h	G	T	10: 93,289,456 (GRCm39)	D29Y	probably damaging	Het
Marchf7	C	T	2: 60,064,873 (GRCm39)	S383L	probably benign	Het
Mob3c	T	C	4: 115,688,635 (GRCm39)	I56T	probably benign	Het
Msl2	T	C	9: 100,978,894 (GRCm39)	S423P	probably benign	Het
Otop3	T	C	11: 115,235,901 (GRCm39)	I511T	possibly damaging	Het
Pbld2	T	G	10: 62,883,805 (GRCm39)	L90R	probably damaging	Het
Pcdh8	A	G	14: 80,006,919 (GRCm39)	V548A	probably damaging	Het
Peg10	CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC	CATC	6: 4,756,431 (GRCm39)		probably benign	Het
Plch2	T	A	4: 155,091,430 (GRCm39)	M228L	probably benign	Het
Prkdc	T	C	16: 15,523,117 (GRCm39)	C1180R	probably damaging	Het
Rasl2-9	A	T	7: 5,128,351 (GRCm39)	L193*	probably null	Het
Rbp3	A	G	14: 33,678,320 (GRCm39)	K756R	probably benign	Het
Rp1	T	C	1: 4,418,139 (GRCm39)	E991G	probably damaging	Het
Slc12a7	G	A	13: 73,938,796 (GRCm39)	R191H	probably damaging	Het
Spaca6	A	G	17: 18,052,321 (GRCm39)	N87S	possibly damaging	Het
Spata31e5	C	T	1: 28,817,225 (GRCm39)	C269Y	possibly damaging	Het
Speer1h	T	A	5: 11,647,646 (GRCm39)	M128K	probably damaging	Het
Stab2	A	T	10: 86,709,728 (GRCm39)	V1639E	probably damaging	Het
Thpo	T	C	16: 20,544,525 (GRCm39)	N235S	possibly damaging	Het
Tmem63b	T	A	17: 45,971,722 (GRCm39)	H831L	probably benign	Het
Trav13-5	A	G	14: 54,032,918 (GRCm39)	R3G	possibly damaging	Het
Vill	T	C	9: 118,887,547 (GRCm39)	S104P	probably damaging	Het

Other mutations in Tomm20l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03340:Tomm20l	APN	12	71,164,388 (GRCm39)	splice site	probably benign
R0544:Tomm20l	UTSW	12	71,169,851 (GRCm39)	missense	possibly damaging	0.84
R3788:Tomm20l	UTSW	12	71,158,516 (GRCm39)	missense	possibly damaging	0.93
R3789:Tomm20l	UTSW	12	71,158,516 (GRCm39)	missense	possibly damaging	0.93
R3790:Tomm20l	UTSW	12	71,158,516 (GRCm39)	missense	possibly damaging	0.93
R3962:Tomm20l	UTSW	12	71,164,352 (GRCm39)	missense	probably benign	0.31
R6674:Tomm20l	UTSW	12	71,158,307 (GRCm39)	missense	probably damaging	0.99
R7148:Tomm20l	UTSW	12	71,164,313 (GRCm39)	missense	probably benign	0.00
R7545:Tomm20l	UTSW	12	71,164,171 (GRCm39)	splice site	probably null
Z1187:Tomm20l	UTSW	12	71,168,758 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCAATTGAAGTGCAAGGGAAATCC -3'
(R):5'- AAGCCAGGTAGCATGGACAC -3'

Sequencing Primer
(F):5'- AGGGAAATCCAGGCGACCC -3'
(R):5'- TAGCATGGACACGGGTGAC -3'

Posted On

2020-07-28