Mutagenetix > Incidental Mutation

Incidental Mutation 'R5753:Timm8a2'

444912

Institutional Source

Beutler Lab

Gene Symbol

Timm8a2

Ensembl Gene

ENSMUSG00000071229

Gene Name

translocase of inner mitochondrial membrane 8A2

Synonyms

MMRRC Submission

043358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R5753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122272086-122275832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122272289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

Ref Sequence

ENSEMBL: ENSMUSP00000047497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045976]

AlphaFold

Q4FZG7

Predicted Effect

probably benign
Transcript: ENSMUST00000045976
AA Change: V64A

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000047497
Gene: ENSMUSG00000071229
AA Change: V64A

Domain	Start	End	E-Value	Type
Pfam:zf-Tim10_DDP	21	83	4e-25	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	T	5: 88,120,374 (GRCm39)	T377I	probably damaging	Het
Abcb1a	A	G	5: 8,773,160 (GRCm39)	D796G	probably damaging	Het
Actn3	T	C	19: 4,914,595 (GRCm39)		probably null	Het
Ada	A	T	2: 163,577,318 (GRCm39)	S57T	probably benign	Het
Adamts6	A	G	13: 104,483,858 (GRCm39)	Y359C	probably damaging	Het
Adcy1	A	T	11: 7,080,300 (GRCm39)	I348F	probably damaging	Het
Ankrd11	T	C	8: 123,622,043 (GRCm39)	E603G	possibly damaging	Het
Bcas3	A	G	11: 85,712,910 (GRCm39)		probably benign	Het
Cldn1	C	A	16: 26,181,871 (GRCm39)	V113L	probably benign	Het
Dock9	T	C	14: 121,872,037 (GRCm39)	T540A	probably benign	Het
Erp27	A	G	6: 136,896,875 (GRCm39)	F109S	probably damaging	Het
F13a1	G	A	13: 37,082,082 (GRCm39)	Q541*	probably null	Het
Fam124a	T	C	14: 62,843,988 (GRCm39)	S499P	probably benign	Het
Fgd3	T	A	13: 49,428,416 (GRCm39)	E486V	possibly damaging	Het
Flnc	T	C	6: 29,433,488 (GRCm39)	S11P	probably benign	Het
Gm12508	C	A	4: 55,254,787 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,837 (GRCm39)	M131T	probably damaging	Het
H4c4	G	A	13: 23,765,587 (GRCm39)	M1I	probably null	Het
Itpripl2	A	G	7: 118,090,232 (GRCm39)	V109A	probably damaging	Het
Jakmip2	T	C	18: 43,692,181 (GRCm39)	E585G	probably damaging	Het
Kbtbd3	A	T	9: 4,331,404 (GRCm39)	I593F	possibly damaging	Het
Lgr4	C	T	2: 109,832,857 (GRCm39)	Q316*	probably null	Het
Mcf2l	T	C	8: 13,049,993 (GRCm39)	F305S	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4c3	T	C	2: 89,851,847 (GRCm39)	T188A	possibly damaging	Het
Or4k51	T	A	2: 111,585,146 (GRCm39)	I184K	possibly damaging	Het
Or4q3	T	A	14: 50,583,045 (GRCm39)	T285S	probably damaging	Het
Or51b17	A	G	7: 103,542,408 (GRCm39)	L178P	probably damaging	Het
Or5d18	G	A	2: 87,864,920 (GRCm39)	L188F	probably damaging	Het
Or5w18	A	T	2: 87,633,596 (GRCm39)	M288L	probably benign	Het
Or7a40	A	T	16: 16,491,484 (GRCm39)	Y120*	probably null	Het
Pcdh9	T	A	14: 94,125,597 (GRCm39)	D191V	probably damaging	Het
Pde4d	T	A	13: 109,909,256 (GRCm39)		probably benign	Het
Phkb	C	T	8: 86,604,859 (GRCm39)	A88V	probably damaging	Het
Plec	A	G	15: 76,057,620 (GRCm39)	S4128P	probably damaging	Het
Plekha5	A	T	6: 140,482,730 (GRCm39)		probably null	Het
Rgs13	A	C	1: 144,016,478 (GRCm39)	N88K	probably benign	Het
Rho	T	A	6: 115,912,448 (GRCm39)	I104N	probably damaging	Het
Rnps1	T	C	17: 24,637,138 (GRCm39)		probably benign	Het
Saxo5	A	T	8: 3,534,112 (GRCm39)	I350L	probably benign	Het
Slc10a7	G	T	8: 79,251,928 (GRCm39)		probably null	Het
Slc39a7	C	T	17: 34,249,150 (GRCm39)	R246K	probably damaging	Het
Sort1	G	C	3: 108,253,090 (GRCm39)	G510A	probably damaging	Het
Spag6l	A	G	16: 16,584,831 (GRCm39)		probably null	Het
Sync	T	A	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Tnfrsf11b	C	A	15: 54,117,455 (GRCm39)	V267L	possibly damaging	Het
Trim30b	A	G	7: 104,006,544 (GRCm39)	V104A	possibly damaging	Het
Tusc3	T	C	8: 39,564,100 (GRCm39)	S244P	probably damaging	Het
Usp16	T	A	16: 87,279,787 (GRCm39)	Y746N	probably damaging	Het
Vax1	G	T	19: 59,154,814 (GRCm39)	H274Q	probably benign	Het
Vmn2r108	A	G	17: 20,683,179 (GRCm39)	V675A	probably damaging	Het
Vmn2r12	A	T	5: 109,239,670 (GRCm39)	W298R	probably damaging	Het
Zfp948	A	G	17: 21,807,156 (GRCm39)	N116S	probably damaging	Het
Zkscan2	A	G	7: 123,079,923 (GRCm39)	V678A	probably benign	Het

Other mutations in Timm8a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5169:Timm8a2	UTSW	14	122,272,138 (GRCm39)	missense	probably benign	0.01
R9759:Timm8a2	UTSW	14	122,272,216 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTCGTTCTCTAGCAGGACG -3'
(R):5'- AAGACACCCCTCCATGTTGTTC -3'

Sequencing Primer
(F):5'- ATGGAGTCCGCCTGGTCTTC -3'
(R):5'- ATGTTGTTCTCATCACCATCCC -3'

Posted On

2016-11-21