Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01520:Tlcd3a'

90499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlcd3a

Ensembl Gene

ENSMUSG00000069808

Gene Name

TLC domain containing 3A

Synonyms

4932415L08Rik, 5430420K21Rik, 2310047D13Rik, Wdt3, 5430402E13Rik, Fam57a

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

IGL01520

Quality Score

Status

Chromosome

Chromosomal Location

76070497-76100243 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 76098051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000114936 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094014] [ENSMUST00000102500] [ENSMUST00000129853] [ENSMUST00000169560] [ENSMUST00000169701]

AlphaFold

Q5ND56

Predicted Effect

probably null
Transcript: ENSMUST00000094014

SMART Domains

Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	249	7.47e-34	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102500

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127340

Predicted Effect

probably null
Transcript: ENSMUST00000129853

SMART Domains

Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
TLC	1	166	6.2e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169532

Predicted Effect

probably benign
Transcript: ENSMUST00000169560

SMART Domains

Protein: ENSMUSP00000131151
Gene: ENSMUSG00000069808

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	33	217	4.92e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169701

SMART Domains

Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286

Domain	Start	End	E-Value	Type
Pfam:Glyoxalase_2	143	256	2.7e-8	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-associated protein that promotes lung carcinogenesis. The encoded protein may be involved in amino acid transport and glutathione metabolism since it can interact with a solute carrier family member (SLC3A2) and an isoform of gamma-glutamyltranspeptidase-like 3. An alternatively spliced variant encoding a protein that lacks a 32 aa internal segment showed the opposite effect, inhibiting lung cancer cell growth. Knockdown of this gene also inhibited lung carcinogenesis and tumor cell growth. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,734,318 (GRCm39)	H58Q	probably damaging	Het
Atp6v1c2	A	T	12: 17,347,754 (GRCm39)	L149Q	probably damaging	Het
Bltp1	T	A	3: 37,027,409 (GRCm39)	Y2265*	probably null	Het
Cd40lg	A	G	X: 56,265,148 (GRCm39)	N132D	probably benign	Het
Cemip	G	T	7: 83,597,830 (GRCm39)	T1060K	probably benign	Het
Ces1a	G	T	8: 93,771,726 (GRCm39)	P24T	probably damaging	Het
Ces5a	A	T	8: 94,246,206 (GRCm39)	S328T	probably benign	Het
Cfap70	A	G	14: 20,470,755 (GRCm39)	C497R	probably benign	Het
Cndp2	T	C	18: 84,686,732 (GRCm39)	K430R	probably benign	Het
Cplane1	C	A	15: 8,251,395 (GRCm39)	T1889K	probably damaging	Het
Crlf3	T	C	11: 79,950,972 (GRCm39)	D126G	probably benign	Het
Cxcr1	A	T	1: 74,231,434 (GRCm39)	L196Q	probably damaging	Het
E330013P04Rik	A	G	19: 60,150,329 (GRCm39)		noncoding transcript	Het
Erbb2	C	T	11: 98,324,835 (GRCm39)	H810Y	probably benign	Het
Fmn1	C	A	2: 113,274,713 (GRCm39)		probably benign	Het
Fpr3	A	G	17: 18,191,325 (GRCm39)	T199A	possibly damaging	Het
Gcsh	A	G	8: 117,710,688 (GRCm39)		probably benign	Het
Gm10073	T	A	8: 107,299,901 (GRCm39)	I28F	probably benign	Het
Gucy1a2	C	A	9: 3,759,561 (GRCm39)	Q456K	probably damaging	Het
Hgs	C	A	11: 120,369,174 (GRCm39)	P317T	probably damaging	Het
Inmt	C	A	6: 55,148,213 (GRCm39)	V139F	probably damaging	Het
Kcnma1	C	A	14: 23,551,211 (GRCm39)	M460I	possibly damaging	Het
Map9	A	T	3: 82,286,272 (GRCm39)	N359I	probably damaging	Het
Mavs	T	C	2: 131,087,263 (GRCm39)	S254P	probably benign	Het
Mcts1	T	A	X: 37,700,636 (GRCm39)		probably benign	Het
Mecp2	C	A	X: 73,079,447 (GRCm39)	R344L	possibly damaging	Het
Or1e32	T	G	11: 73,705,612 (GRCm39)	T99P	probably damaging	Het
Or4z4	A	G	19: 12,077,000 (GRCm39)	M1T	probably null	Het
Or5b3	G	T	19: 13,388,114 (GRCm39)	M60I	probably damaging	Het
Or8g36	T	C	9: 39,422,342 (GRCm39)	I225V	possibly damaging	Het
Or8g54	T	G	9: 39,706,674 (GRCm39)	M1R	probably null	Het
Or9g4	T	C	2: 85,504,701 (GRCm39)	T265A	probably benign	Het
Rasgrp1	T	C	2: 117,119,144 (GRCm39)	I498V	probably damaging	Het
Rbbp6	T	A	7: 122,584,898 (GRCm39)	S185T	possibly damaging	Het
Rd3	A	T	1: 191,717,283 (GRCm39)	H251L	possibly damaging	Het
Rnf180	T	A	13: 105,386,864 (GRCm39)	D148V	probably damaging	Het
Rnf43	C	A	11: 87,555,542 (GRCm39)	A34E	probably damaging	Het
Rslcan18	A	G	13: 67,250,172 (GRCm39)	V21A	probably benign	Het
Septin9	T	C	11: 117,243,469 (GRCm39)	V128A	probably damaging	Het
Slc36a1	A	G	11: 55,110,482 (GRCm39)	H103R	probably benign	Het
Spata6l	A	T	19: 28,873,532 (GRCm39)		probably null	Het
Ssh2	A	G	11: 77,340,732 (GRCm39)	D628G	probably damaging	Het
Tmem119	A	G	5: 113,933,546 (GRCm39)	F85S	probably damaging	Het
Tpp1	A	T	7: 105,396,936 (GRCm39)	I398N	probably benign	Het
Ttc3	T	C	16: 94,191,066 (GRCm39)	Y203H	probably benign	Het
Vars1	G	T	17: 35,232,849 (GRCm39)	V898L	probably benign	Het
Vmn1r85	A	C	7: 12,819,081 (GRCm39)	V21G	probably damaging	Het
Zfp521	T	C	18: 14,072,045 (GRCm39)	H65R	possibly damaging	Het

Other mutations in Tlcd3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Tlcd3a	APN	11	76,098,817 (GRCm39)	missense	probably damaging	1.00
IGL02320:Tlcd3a	APN	11	76,096,231 (GRCm39)	missense	probably damaging	1.00
R3110:Tlcd3a	UTSW	11	76,093,057 (GRCm39)	missense	probably benign	0.01
R3112:Tlcd3a	UTSW	11	76,093,057 (GRCm39)	missense	probably benign	0.01
R6452:Tlcd3a	UTSW	11	76,097,972 (GRCm39)	nonsense	probably null
R8554:Tlcd3a	UTSW	11	76,096,244 (GRCm39)	missense	probably damaging	1.00
R8784:Tlcd3a	UTSW	11	76,098,941 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09