Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00686:Tlcd3b'

10664

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlcd3b

Ensembl Gene

ENSMUSG00000058966

Gene Name

TLC domain containing 3B

Synonyms

A330104J06Rik, Fam57b, 1500016O10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00686

Quality Score

Status

Chromosome

Chromosomal Location

126413213-126429391 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

C to T at 126424175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000145721 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079423] [ENSMUST00000098032] [ENSMUST00000205324] [ENSMUST00000205722] [ENSMUST00000207020]

AlphaFold

Q7TNV1

Predicted Effect

probably benign
Transcript: ENSMUST00000079423

SMART Domains

Protein: ENSMUSP00000078392
Gene: ENSMUSG00000058966

Domain	Start	End	E-Value	Type
TLC	34	261	1.2e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098032

SMART Domains

Protein: ENSMUSP00000095640
Gene: ENSMUSG00000058966

Domain	Start	End	E-Value	Type
transmembrane domain	4	23	N/A	INTRINSIC
TLC	34	261	8.37e-46	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205324

Predicted Effect

probably benign
Transcript: ENSMUST00000205722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205888

Predicted Effect

probably benign
Transcript: ENSMUST00000207020

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein, which may be a likely target of peroxisome proliferator-activated receptor gamma (PPAR-gamma). The product of the orthologous gene in mouse is related to obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 6 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	G	16: 90,852,489 (GRCm39)	S216P	possibly damaging	Het
Btk	A	G	X: 133,460,013 (GRCm39)	Y152H	probably damaging	Het
Casp8ap2	A	G	4: 32,641,433 (GRCm39)	D829G	probably damaging	Het
Fam135b	A	G	15: 71,334,168 (GRCm39)	S1009P	probably benign	Het
Glt8d2	T	A	10: 82,487,347 (GRCm39)	N298Y	possibly damaging	Het
Samt4	C	T	X: 153,267,128 (GRCm39)	T89I	probably benign	Het

Other mutations in Tlcd3b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
ishizaka	UTSW	7	126,426,667 (GRCm39)	missense	probably damaging	1.00
tocopherol	UTSW	7	126,426,685 (GRCm39)	missense	probably damaging	1.00
R0421:Tlcd3b	UTSW	7	126,424,187 (GRCm39)	missense	probably damaging	0.99
R0512:Tlcd3b	UTSW	7	126,426,795 (GRCm39)	missense	probably damaging	0.99
R1933:Tlcd3b	UTSW	7	126,426,844 (GRCm39)	splice site	probably null
R2070:Tlcd3b	UTSW	7	126,419,012 (GRCm39)	missense	probably benign	0.00
R3764:Tlcd3b	UTSW	7	126,426,685 (GRCm39)	missense	probably damaging	1.00
R4998:Tlcd3b	UTSW	7	126,426,795 (GRCm39)	missense	probably damaging	0.99
R5482:Tlcd3b	UTSW	7	126,426,660 (GRCm39)	missense	possibly damaging	0.95
R6246:Tlcd3b	UTSW	7	126,426,668 (GRCm39)	missense	probably damaging	1.00
R7120:Tlcd3b	UTSW	7	126,428,505 (GRCm39)	missense	probably damaging	0.97
R7159:Tlcd3b	UTSW	7	126,426,667 (GRCm39)	missense	probably damaging	1.00
R8255:Tlcd3b	UTSW	7	126,423,275 (GRCm39)	missense	probably benign	0.10
X0020:Tlcd3b	UTSW	7	126,428,447 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06