Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02100:Them5'

279696

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 #

IGL02100

Quality Score

Status

Chromosome

Chromosomal Location

94249406-94254659 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94251782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 131 (I131N)

Ref Sequence

ENSEMBL: ENSMUSP00000029794 (fasta)

Gene Model

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

AlphaFold

Q9CQJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000029794
AA Change: I131N

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

SMART Domains

Protein: ENSMUSP00000029794
Gene: ENSMUSG00000028148
AA Change: I131N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198083
AA Change: I131N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000142808
Gene: ENSMUSG00000028148
AA Change: I131N

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,029 (GRCm39)	Q347L	probably null	Het
Acvr2a	T	C	2: 48,788,630 (GRCm39)		probably benign	Het
Ankrd28	T	C	14: 31,449,582 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,426 (GRCm39)	Y498C	probably damaging	Het
Cdh3	G	A	8: 107,270,322 (GRCm39)	V400I	probably benign	Het
Chrnb1	G	T	11: 69,684,281 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,524,177 (GRCm39)		probably benign	Het
Cyp2j7	A	G	4: 96,124,793 (GRCm39)	L35P	probably damaging	Het
Dennd2c	G	A	3: 103,060,991 (GRCm39)	S561N	probably damaging	Het
Dennd4a	A	T	9: 64,816,988 (GRCm39)		probably benign	Het
Dnai4	A	G	4: 102,907,346 (GRCm39)	C647R	probably damaging	Het
Dynll1	A	C	5: 115,436,852 (GRCm39)	V58G	probably damaging	Het
Eif3a	A	T	19: 60,755,442 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,239,052 (GRCm39)	S47P	probably benign	Het
Fam76b	A	G	9: 13,755,416 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,269,941 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,606,373 (GRCm39)	F140L	probably benign	Het
Gm28043	T	C	17: 29,910,400 (GRCm39)		probably null	Het
Gm5117	T	A	8: 32,227,412 (GRCm39)		noncoding transcript	Het
Gstm6	G	T	3: 107,849,653 (GRCm39)	N85K	probably benign	Het
Hip1r	C	T	5: 124,137,006 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,839,706 (GRCm39)	I671T	probably benign	Het
Insrr	T	G	3: 87,718,927 (GRCm39)	F961C	probably damaging	Het
Kbtbd8	T	C	6: 95,099,663 (GRCm39)	Y314H	probably damaging	Het
Kif26b	C	A	1: 178,743,512 (GRCm39)	L756I	probably damaging	Het
Lcor	G	A	19: 41,547,193 (GRCm39)	R259Q	possibly damaging	Het
Mad1l1	T	A	5: 140,129,689 (GRCm39)	S449C	probably damaging	Het
Map1a	T	G	2: 121,133,327 (GRCm39)	L1381R	probably damaging	Het
Mdn1	G	T	4: 32,715,708 (GRCm39)	V1992L	possibly damaging	Het
Pigp	G	A	16: 94,165,626 (GRCm39)	Q99*	probably null	Het
Pip4p2	T	C	4: 14,893,536 (GRCm39)	I133T	probably benign	Het
Rgs8	A	T	1: 153,568,469 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,614,012 (GRCm39)	L36H	probably damaging	Het
Rpap1	T	C	2: 119,599,807 (GRCm39)	S1004G	probably benign	Het
Rpl10a-ps2	T	C	13: 8,990,779 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Scn7a	T	G	2: 66,505,843 (GRCm39)	*1682S	probably null	Het
Sema3d	A	G	5: 12,634,958 (GRCm39)	T675A	probably benign	Het
Slc1a2	T	C	2: 102,586,434 (GRCm39)	F346S	probably damaging	Het
St14	G	T	9: 31,011,426 (GRCm39)		probably benign	Het
Stard5	T	C	7: 83,289,653 (GRCm39)	V173A	possibly damaging	Het
Taf1b	A	G	12: 24,594,394 (GRCm39)	Y309C	possibly damaging	Het
Tet1	T	C	10: 62,648,507 (GRCm39)	N1975S	possibly damaging	Het
Tnc	A	C	4: 63,918,398 (GRCm39)	V1171G	possibly damaging	Het
Ttc12	C	A	9: 49,351,482 (GRCm39)	G672W	probably damaging	Het
Usp8	T	C	2: 126,579,774 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,624,807 (GRCm39)	N92S	probably benign	Het
Was	A	T	X: 7,956,554 (GRCm39)	F38L	possibly damaging	Het

Other mutations in Them5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Them5	APN	3	94,253,496 (GRCm39)	missense	possibly damaging	0.50
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
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

2015-04-16