Mutagenetix > Incidental Mutation

Incidental Mutation 'R6452:Tlcd3a'

519423

Institutional Source

Beutler Lab

Gene Symbol

Tlcd3a

Ensembl Gene

ENSMUSG00000069808

Gene Name

TLC domain containing 3A

Synonyms

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

MMRRC Submission

044588-MU

Accession Numbers

Essential gene?

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

Stock #

R6452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76070497-76100243 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 76097972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 60 (G60*)

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
AA Change: G143*

SMART Domains

Protein: ENSMUSP00000091553
Gene: ENSMUSG00000069808
AA Change: G143*

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
AA Change: G60*

SMART Domains

Protein: ENSMUSP00000114936
Gene: ENSMUSG00000069808
AA Change: G60*

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

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	A	G	13: 119,624,651 (GRCm39)		probably benign	Het
Alox12e	A	T	11: 70,210,831 (GRCm39)	V296E	probably damaging	Het
Bmal2	G	A	6: 146,724,705 (GRCm39)	E400K	probably benign	Het
Ccdc171	A	G	4: 83,782,527 (GRCm39)	D1273G	probably damaging	Het
Cetn3	C	T	13: 81,932,797 (GRCm39)	R19*	probably null	Het
Chd6	G	T	2: 160,807,418 (GRCm39)	P1932H	possibly damaging	Het
Cimip1	C	A	2: 173,369,700 (GRCm39)	F71L	probably benign	Het
Cyp2d34	A	T	15: 82,500,290 (GRCm39)	I483N	probably benign	Het
Dglucy	T	C	12: 100,801,468 (GRCm39)	V71A	possibly damaging	Het
Dhx35	A	G	2: 158,673,607 (GRCm39)	E346G	probably damaging	Het
Dnajc14	A	G	10: 128,643,359 (GRCm39)	E427G	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fasn	G	T	11: 120,706,237 (GRCm39)	Q1036K	probably damaging	Het
Fermt3	A	T	19: 6,992,105 (GRCm39)	F92I	probably benign	Het
Filip1l	C	A	16: 57,327,163 (GRCm39)	D64E	possibly damaging	Het
Fnbp1l	A	G	3: 122,338,198 (GRCm39)	F491S	probably damaging	Het
Fzd2	T	G	11: 102,495,811 (GRCm39)	V85G	probably damaging	Het
Gjd4	G	A	18: 9,280,457 (GRCm39)	T207M	possibly damaging	Het
Gm32742	T	C	9: 51,057,490 (GRCm39)	E1096G	probably damaging	Het
Itgb3	T	A	11: 104,524,290 (GRCm39)	L142*	probably null	Het
Kctd21	T	A	7: 96,996,869 (GRCm39)	I114N	probably benign	Het
Klra4	G	T	6: 130,042,329 (GRCm39)		probably null	Het
Larp4b	T	C	13: 9,197,503 (GRCm39)	V240A	probably damaging	Het
Lrriq4	T	C	3: 30,709,882 (GRCm39)	S409P	probably damaging	Het
Magel2	A	G	7: 62,030,132 (GRCm39)	E1012G	unknown	Het
Mmp24	A	T	2: 155,657,673 (GRCm39)	D521V	possibly damaging	Het
Mocos	A	G	18: 24,828,998 (GRCm39)	I768V	probably benign	Het
Mprip	A	T	11: 59,643,609 (GRCm39)	E553V	probably damaging	Het
Myh8	A	T	11: 67,196,565 (GRCm39)	I1762F	possibly damaging	Het
Myh8	A	T	11: 67,183,275 (GRCm39)	Y718F	probably benign	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Neb	A	T	2: 52,069,495 (GRCm39)	D5775E	probably benign	Het
Or10h5	T	C	17: 33,434,919 (GRCm39)	N133S	probably benign	Het
Or5p66	A	G	7: 107,886,100 (GRCm39)	S78P	probably damaging	Het
Pramel19	T	C	4: 101,798,640 (GRCm39)	Y204H	probably benign	Het
Prl8a2	T	C	13: 27,536,780 (GRCm39)	I134T	probably benign	Het
Qrich2	G	A	11: 116,346,714 (GRCm39)	T1370I	probably benign	Het
Rabgap1l	A	G	1: 160,281,331 (GRCm39)	L630P	probably damaging	Het
Ranbp2	G	T	10: 58,313,979 (GRCm39)	L1566F	probably benign	Het
Rnf43	T	A	11: 87,623,079 (GRCm39)	W727R	probably damaging	Het
Rundc3b	A	T	5: 8,629,175 (GRCm39)		probably null	Het
Samm50	T	G	15: 84,088,298 (GRCm39)		probably benign	Het
Sema4f	G	A	6: 82,894,643 (GRCm39)	A476V	probably benign	Het
Slc4a4	A	G	5: 89,376,839 (GRCm39)	N1031S	probably benign	Het
Slc4a9	A	G	18: 36,664,512 (GRCm39)	Y390C	probably damaging	Het
Slco6d1	C	A	1: 98,348,937 (GRCm39)	Q3K	probably benign	Het
Smim1	T	C	4: 154,108,071 (GRCm39)		probably benign	Het
Spg7	A	G	8: 123,806,162 (GRCm39)	K291E	possibly damaging	Het
Sppl2c	A	T	11: 104,079,017 (GRCm39)	T606S	probably benign	Het
Tex15	A	G	8: 34,062,844 (GRCm39)	D758G	probably damaging	Het
Tigd5	A	T	15: 75,783,287 (GRCm39)	R550*	probably null	Het
Tnrc18	A	C	5: 142,712,767 (GRCm39)	L2594R	probably damaging	Het
Vezf1	A	G	11: 87,972,496 (GRCm39)	T468A	possibly damaging	Het
Vmn1r210	T	A	13: 23,011,840 (GRCm39)	I149F	probably damaging	Het
Vmn2r96	A	C	17: 18,804,117 (GRCm39)	T264P	probably benign	Het
Zfp217	C	G	2: 169,961,214 (GRCm39)	S371T	probably benign	Het
Zfp442	G	A	2: 150,250,028 (GRCm39)	H568Y	probably damaging	Het
Zfp53	A	C	17: 21,729,875 (GRCm39)	H636P	probably damaging	Het
Zscan4d	C	T	7: 10,895,999 (GRCm39)	C457Y	probably 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
IGL01520:Tlcd3a	APN	11	76,098,051 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTTCCCCAAGAAGTGACTGC -3'
(R):5'- CAGATCAAGTCTTAGGGTTTGGATG -3'

Sequencing Primer
(F):5'- CCCAAGAAGTGACTGCCAGGG -3'
(R):5'- GGTGAAGTAATATATCAAAGGGTCTC -3'

Posted On

2018-05-24