Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02649:Tlcd5'

302050

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tlcd5

Ensembl Gene

ENSMUSG00000048503

Gene Name

TLC domain containing 5

Synonyms

LOC235300, Tmem136

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02649

Quality Score

Status

Chromosome

Chromosomal Location

43019945-43027865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 43022783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 190 (K190N)

Ref Sequence

ENSEMBL: ENSMUSP00000150692 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061833] [ENSMUST00000213544] [ENSMUST00000216126]

AlphaFold

Q3TYE7

Predicted Effect

probably benign
Transcript: ENSMUST00000061833
AA Change: K190N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000051435
Gene: ENSMUSG00000048503
AA Change: K190N

Domain	Start	End	E-Value	Type
transmembrane domain	4	26	N/A	INTRINSIC
TLC	29	225	7.82e-37	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000213544
AA Change: K190N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215898

Predicted Effect

probably benign
Transcript: ENSMUST00000216126
AA Change: K172N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	A	T	11: 116,486,472 (GRCm39)	I4F	probably benign	Het
Adamts17	T	G	7: 66,499,626 (GRCm39)		probably benign	Het
Adcy1	A	T	11: 7,117,156 (GRCm39)	M1008L	probably damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Atrnl1	T	G	19: 57,638,873 (GRCm39)		probably benign	Het
Brd3	T	A	2: 27,344,362 (GRCm39)	E456V	probably damaging	Het
Cabin1	A	T	10: 75,573,252 (GRCm39)	L712H	probably damaging	Het
Ccna1	T	A	3: 54,961,807 (GRCm39)	T38S	probably damaging	Het
Chadl	T	A	15: 81,580,059 (GRCm39)	I59F	probably benign	Het
Chmp3	T	C	6: 71,529,417 (GRCm39)	M27T	possibly damaging	Het
Clcn1	C	T	6: 42,275,763 (GRCm39)	T295I	probably damaging	Het
Col6a6	A	G	9: 105,604,369 (GRCm39)		probably null	Het
Dennd2a	T	A	6: 39,447,290 (GRCm39)	H776L	probably benign	Het
Dimt1	G	A	13: 107,085,219 (GRCm39)	R55K	probably benign	Het
Dlg5	T	A	14: 24,196,319 (GRCm39)	D1626V	probably damaging	Het
Dock10	T	A	1: 80,551,840 (GRCm39)	Y665F	probably damaging	Het
Hectd4	T	C	5: 121,487,465 (GRCm39)	S3487P	possibly damaging	Het
Hivep1	T	C	13: 42,310,787 (GRCm39)	V1009A	possibly damaging	Het
Ifna12	A	T	4: 88,521,091 (GRCm39)	V152E	probably damaging	Het
Igf2r	A	T	17: 12,930,974 (GRCm39)	C903S	possibly damaging	Het
Ipo9	T	C	1: 135,313,672 (GRCm39)	D1002G	possibly damaging	Het
Isyna1	T	C	8: 71,048,904 (GRCm39)	S328P	probably damaging	Het
Itprid2	T	C	2: 79,472,303 (GRCm39)		probably benign	Het
Lamc1	G	A	1: 153,122,788 (GRCm39)	T764I	possibly damaging	Het
Lta4h	T	C	10: 93,308,831 (GRCm39)	V377A	probably benign	Het
Lyz2	C	T	10: 117,118,090 (GRCm39)	V20I	probably benign	Het
Myo3a	A	T	2: 22,328,418 (GRCm39)	L329F	probably benign	Het
Nlgn2	T	C	11: 69,716,628 (GRCm39)	T638A	probably benign	Het
Oasl2	A	G	5: 115,035,753 (GRCm39)	T10A	probably damaging	Het
Or14j8	A	T	17: 38,263,864 (GRCm39)	F17Y	probably damaging	Het
Or5k1	T	A	16: 58,617,713 (GRCm39)	R165S	probably damaging	Het
Pde10a	A	T	17: 9,172,604 (GRCm39)	N296I	probably damaging	Het
Plb1	A	G	5: 32,519,912 (GRCm39)	I1385M	probably benign	Het
Pld1	T	C	3: 28,141,378 (GRCm39)	V647A	probably damaging	Het
Pnp	T	C	14: 51,185,303 (GRCm39)		probably benign	Het
Ppl	A	T	16: 4,905,327 (GRCm39)	I1656K	probably damaging	Het
Rimbp3	G	T	16: 17,027,472 (GRCm39)	E299*	probably null	Het
Sbsn	C	A	7: 30,452,683 (GRCm39)	A566D	probably damaging	Het
Sh3rf1	T	A	8: 61,816,225 (GRCm39)	M494K	probably damaging	Het
Slc2a2	T	A	3: 28,772,885 (GRCm39)	V226E	probably damaging	Het
Smarca2	T	A	19: 26,617,986 (GRCm39)	I339N	possibly damaging	Het
Tenm2	G	T	11: 36,097,912 (GRCm39)	S445R	possibly damaging	Het
Tnip2	A	T	5: 34,671,075 (GRCm39)	L56Q	probably damaging	Het
Trpv1	C	T	11: 73,141,612 (GRCm39)	S485F	probably damaging	Het
Vmn2r23	T	C	6: 123,681,437 (GRCm39)	M115T	probably benign	Het
Zbtb38	G	A	9: 96,568,672 (GRCm39)	T804I	probably damaging	Het
Zfhx3	T	C	8: 109,520,167 (GRCm39)	S430P	possibly damaging	Het

Other mutations in Tlcd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00658:Tlcd5	APN	9	43,024,786 (GRCm39)	missense	probably benign
IGL02010:Tlcd5	APN	9	43,022,859 (GRCm39)	missense	probably damaging	1.00
R0363:Tlcd5	UTSW	9	43,023,048 (GRCm39)	missense	probably damaging	1.00
R0694:Tlcd5	UTSW	9	43,022,921 (GRCm39)	nonsense	probably null
R1203:Tlcd5	UTSW	9	43,022,775 (GRCm39)	missense	probably benign	0.09
R1534:Tlcd5	UTSW	9	43,022,923 (GRCm39)	missense	probably damaging	1.00
R3956:Tlcd5	UTSW	9	43,022,808 (GRCm39)	missense	probably damaging	0.99
R6044:Tlcd5	UTSW	9	43,024,903 (GRCm39)	missense	probably benign	0.33
R7437:Tlcd5	UTSW	9	43,023,080 (GRCm39)	nonsense	probably null
R8025:Tlcd5	UTSW	9	43,022,848 (GRCm39)	missense	probably benign	0.44
R9031:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9032:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9079:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9080:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9084:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9086:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign

Posted On

2015-04-16