Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01954:Them6'

181391

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Them6

Ensembl Gene

ENSMUSG00000056665

Gene Name

thioesterase superfamily member 6

Synonyms

4930572J05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL01954

Quality Score

Status

Chromosome

Chromosomal Location

74593083-74596222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74593538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 132 (Y132C)

Ref Sequence

ENSEMBL: ENSMUSP00000069692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023261] [ENSMUST00000023265] [ENSMUST00000070923] [ENSMUST00000190433]

AlphaFold

Q80ZW2

Predicted Effect

probably benign
Transcript: ENSMUST00000023261

SMART Domains

Protein: ENSMUSP00000023261
Gene: ENSMUSG00000022596

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
LU	23	109	6.93e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023265

SMART Domains

Protein: ENSMUSP00000023265
Gene: ENSMUSG00000022598

Domain	Start	End	E-Value	Type
LU	21	107	7.4e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000070923
AA Change: Y132C

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

SMART Domains

Protein: ENSMUSP00000069692
Gene: ENSMUSG00000056665
AA Change: Y132C

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
Pfam:4HBT_2	54	185	5.8e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188070

Predicted Effect

probably benign
Transcript: ENSMUST00000190433

SMART Domains

Protein: ENSMUSP00000141013
Gene: ENSMUSG00000022596

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
LU	23	109	6.93e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	A	T	4: 144,396,741 (GRCm39)	D330E	probably damaging	Het
Acsm3	T	C	7: 119,374,306 (GRCm39)		probably benign	Het
Ankrd26	T	A	6: 118,535,966 (GRCm39)	Y156F	possibly damaging	Het
Bcr	G	A	10: 75,011,173 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,079,138 (GRCm39)	A188T	probably benign	Het
Ctdsp1	T	C	1: 74,433,242 (GRCm39)		probably benign	Het
Cts7	T	A	13: 61,500,637 (GRCm39)	R303S	probably benign	Het
Dock7	T	C	4: 98,971,388 (GRCm39)	D59G	probably damaging	Het
Garre1	A	T	7: 33,944,460 (GRCm39)	W91R	probably damaging	Het
Gpr149	T	C	3: 62,438,348 (GRCm39)	N603S	probably benign	Het
Gucy2g	A	G	19: 55,187,123 (GRCm39)	I1099T	probably benign	Het
Gzf1	G	A	2: 148,525,981 (GRCm39)	A151T	probably benign	Het
Ighv1-80	A	T	12: 115,876,253 (GRCm39)	V21D	probably benign	Het
Klhl18	T	C	9: 110,257,934 (GRCm39)	Y432C	probably damaging	Het
Lama4	A	G	10: 38,963,295 (GRCm39)	D1289G	probably benign	Het
Mab21l4	T	A	1: 93,079,794 (GRCm39)	D432V	probably damaging	Het
Mcm7	T	C	5: 138,165,507 (GRCm39)	T466A	probably damaging	Het
Megf8	A	G	7: 25,048,439 (GRCm39)	E1704G	possibly damaging	Het
Mettl25	C	T	10: 105,659,068 (GRCm39)	C405Y	probably damaging	Het
Muc6	A	C	7: 141,218,497 (GRCm39)	S2059A	probably benign	Het
Ndc1	T	A	4: 107,253,001 (GRCm39)	I590N	probably damaging	Het
Npnt	G	T	3: 132,615,724 (GRCm39)	N137K	probably damaging	Het
Numa1	C	T	7: 101,645,300 (GRCm39)	R309*	probably null	Het
Ogfod3	G	A	11: 121,093,851 (GRCm39)	T53I	probably benign	Het
Or11i1	A	G	3: 106,729,311 (GRCm39)	I188T	possibly damaging	Het
Or5v1	C	A	17: 37,809,540 (GRCm39)		probably benign	Het
Pcdhb9	G	T	18: 37,534,794 (GRCm39)	V263F	probably damaging	Het
Pld4	T	C	12: 112,734,355 (GRCm39)		probably null	Het
Ppp2r3c	A	G	12: 55,339,353 (GRCm39)	L170P	probably damaging	Het
Prex2	T	A	1: 11,210,235 (GRCm39)	D558E	possibly damaging	Het
Rasal2	A	G	1: 157,005,269 (GRCm39)	S227P	possibly damaging	Het
Rasal2	A	T	1: 157,003,686 (GRCm39)	D324E	probably damaging	Het
Rcbtb1	A	G	14: 59,467,416 (GRCm39)	Y418C	probably damaging	Het
Rhag	T	C	17: 41,139,341 (GRCm39)	F92S	possibly damaging	Het
Scel	T	C	14: 103,840,678 (GRCm39)		probably benign	Het
Serinc5	A	G	13: 92,819,441 (GRCm39)	N125S	probably damaging	Het
Sgpl1	A	T	10: 60,936,672 (GRCm39)	M561K	probably benign	Het
Sostdc1	T	C	12: 36,367,121 (GRCm39)	V99A	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r27	A	T	6: 124,169,207 (GRCm39)	F641Y	probably damaging	Het
Vps13c	A	G	9: 67,876,580 (GRCm39)	Y3384C	probably damaging	Het
Zbtb32	G	T	7: 30,289,353 (GRCm39)		probably null	Het

Other mutations in Them6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02526:Them6	APN	15	74,593,504 (GRCm39)	missense	possibly damaging	0.75
R2035:Them6	UTSW	15	74,593,524 (GRCm39)	missense	probably damaging	1.00
R3806:Them6	UTSW	15	74,593,367 (GRCm39)	missense	probably damaging	0.97
R4937:Them6	UTSW	15	74,593,367 (GRCm39)	missense	probably damaging	1.00
R5642:Them6	UTSW	15	74,593,654 (GRCm39)	missense	probably null	0.99
R7539:Them6	UTSW	15	74,595,349 (GRCm39)	missense	probably damaging	0.97
R7780:Them6	UTSW	15	74,593,427 (GRCm39)	missense	probably benign	0.05
Z1088:Them6	UTSW	15	74,593,418 (GRCm39)	missense	probably benign	0.12

Posted On

2014-05-07