Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00435:Them5'

6824

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Them5

Ensembl Gene

ENSMUSG00000028148

Gene Name

thioesterase superfamily member 5

Synonyms

1110007B02Rik, 1110038F21Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL00435

Quality Score

Status

Chromosome

Chromosomal Location

94249406-94254659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94253496 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 169 (T169A)

Ref Sequence

ENSEMBL: ENSMUSP00000142808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029794] [ENSMUST00000198083]

AlphaFold

Q9CQJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000029794
AA Change: T169A

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: T169A

Domain	Start	End	E-Value	Type
Pfam:4HBT	154	229	2e-7	PFAM
low complexity region	237	248	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198083
AA Change: T169A

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: T169A

Domain	Start	End	E-Value	Type
Pfam:4HBT	154	229	7.4e-5	PFAM

Meta Mutation Damage Score

0.2322

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knockout of this gene have abnormal mitochondria and display defects in mitochondrial respiration and in lipid metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap28	A	T	17: 68,152,796 (GRCm39)	D657E	probably damaging	Het
Cd200l1	A	T	16: 45,264,483 (GRCm39)	L25Q	probably damaging	Het
Cd68	T	C	11: 69,556,676 (GRCm39)	T44A	probably damaging	Het
Cecr2	C	T	6: 120,733,678 (GRCm39)	T555M	probably damaging	Het
Cep170b	A	G	12: 112,701,628 (GRCm39)	Q169R	probably damaging	Het
Cs	T	C	10: 128,195,912 (GRCm39)	F374L	probably damaging	Het
Dpy19l1	T	C	9: 24,393,226 (GRCm39)	E181G	probably damaging	Het
Efcab12	T	C	6: 115,800,625 (GRCm39)	T133A	probably benign	Het
Esr2	G	A	12: 76,180,653 (GRCm39)	R423W	probably damaging	Het
Eya4	T	C	10: 23,034,995 (GRCm39)	Y120C	probably benign	Het
Fbxw8	A	G	5: 118,206,202 (GRCm39)	M582T	probably benign	Het
Fcgbpl1	A	T	7: 27,863,953 (GRCm39)	D2575V	probably damaging	Het
Ghsr	A	G	3: 27,426,532 (GRCm39)	E196G	possibly damaging	Het
Gm10024	G	A	10: 77,547,295 (GRCm39)		probably benign	Het
Gpr65	A	G	12: 98,241,815 (GRCm39)	E156G	probably damaging	Het
Gtf3c3	T	C	1: 54,466,694 (GRCm39)	Y249C	possibly damaging	Het
H2-T23	G	A	17: 36,342,673 (GRCm39)	A155V	probably damaging	Het
Hadha	A	G	5: 30,327,171 (GRCm39)	S556P	probably benign	Het
Hdac7	T	A	15: 97,707,376 (GRCm39)	K187N	probably damaging	Het
Inpp5j	T	C	11: 3,452,255 (GRCm39)	I332V	probably benign	Het
Kank1	A	G	19: 25,407,600 (GRCm39)	D1198G	probably benign	Het
Kdr	A	G	5: 76,129,410 (GRCm39)	L159P	probably damaging	Het
Me2	T	C	18: 73,903,713 (GRCm39)	E585G	probably benign	Het
Nfu1	A	T	6: 86,992,577 (GRCm39)	T64S	probably damaging	Het
Nsd3	A	G	8: 26,166,728 (GRCm39)	D632G	probably benign	Het
Pcna	T	C	2: 132,093,852 (GRCm39)	D97G	probably benign	Het
Pgm2	A	G	5: 64,265,612 (GRCm39)		probably benign	Het
Phactr1	C	A	13: 43,110,122 (GRCm39)	R2S	probably damaging	Het
Psmd11	T	A	11: 80,361,210 (GRCm39)	I347N	possibly damaging	Het
Rad21l	T	C	2: 151,495,436 (GRCm39)	T416A	probably benign	Het
Ruvbl2	A	T	7: 45,074,596 (GRCm39)	S181T	probably benign	Het
Rxrb	A	G	17: 34,253,049 (GRCm39)	T109A	probably damaging	Het
Ryr3	T	A	2: 112,490,494 (GRCm39)	Y3785F	probably damaging	Het
Sec16a	T	C	2: 26,320,113 (GRCm39)	T1442A	probably benign	Het
Slc6a14	T	A	X: 21,600,363 (GRCm39)		probably benign	Het
Slco2b1	G	A	7: 99,309,259 (GRCm39)	Q691*	probably null	Het
Tent5c	A	G	3: 100,380,672 (GRCm39)	V28A	probably damaging	Het
Trav13-2	T	C	14: 53,872,688 (GRCm39)	F55L	possibly damaging	Het
Tst	A	T	15: 78,289,661 (GRCm39)	S125T	probably damaging	Het
Ttn	T	C	2: 76,630,868 (GRCm39)	T14179A	probably benign	Het
Vps37b	A	G	5: 124,148,850 (GRCm39)	Y62H	probably damaging	Het

Other mutations in Them5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00790:Them5	APN	3	94,250,716 (GRCm39)	missense	probably damaging	1.00
IGL00813:Them5	APN	3	94,250,595 (GRCm39)	missense	probably damaging	1.00
IGL02100:Them5	APN	3	94,251,782 (GRCm39)	missense	probably damaging	1.00
R0668:Them5	UTSW	3	94,251,720 (GRCm39)	missense	probably benign	0.11
R1616:Them5	UTSW	3	94,253,567 (GRCm39)	critical splice donor site	probably null
R1782:Them5	UTSW	3	94,251,796 (GRCm39)	missense	probably benign	0.10
R4322:Them5	UTSW	3	94,253,463 (GRCm39)	missense	probably damaging	1.00
R5789:Them5	UTSW	3	94,253,908 (GRCm39)	missense	probably damaging	1.00
R7853:Them5	UTSW	3	94,250,603 (GRCm39)	nonsense	probably null
R7911:Them5	UTSW	3	94,253,496 (GRCm39)	missense	possibly damaging	0.50
R8744:Them5	UTSW	3	94,253,472 (GRCm39)	missense	probably damaging	1.00
R9337:Them5	UTSW	3	94,254,048 (GRCm39)	missense	unknown

Posted On

2012-04-20