Mutagenetix > Incidental Mutation

Incidental Mutation 'R5094:Tlcd2'

387999

Institutional Source

Beutler Lab

Gene Symbol

Tlcd2

Ensembl Gene

ENSMUSG00000038217

Gene Name

TLC domain containing 2

Synonyms

2010305C02Rik

MMRRC Submission

042683-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R5094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75358771-75361725 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75360640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 228 (S228P)

Ref Sequence

ENSEMBL: ENSMUSP00000042958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043598] [ENSMUST00000108435]

AlphaFold

Q8VC26

Predicted Effect

probably benign
Transcript: ENSMUST00000043598
AA Change: S228P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000042958
Gene: ENSMUSG00000038217
AA Change: S228P

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC
TLC	33	226	2.08e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108435

SMART Domains

Protein: ENSMUSP00000104074
Gene: ENSMUSG00000038217

Domain	Start	End	E-Value	Type
transmembrane domain	4	21	N/A	INTRINSIC
TLC	33	185	4.41e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149940

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153236

Meta Mutation Damage Score

0.0722

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.9%

Validation Efficiency

91% (40/44)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 81,946,883 (GRCm39)	G260V	possibly damaging	Het
Agap3	T	C	5: 24,656,319 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,709,296 (GRCm39)	S1173P	probably damaging	Het
C3	A	T	17: 57,532,033 (GRCm39)		probably null	Het
Cdh18	G	A	15: 22,714,625 (GRCm39)		probably benign	Het
Cep290	A	G	10: 100,402,892 (GRCm39)	K2274E	probably damaging	Het
Cfap54	T	C	10: 92,734,861 (GRCm39)		probably benign	Het
Chat	T	A	14: 32,130,896 (GRCm39)	I582F	probably damaging	Het
Chrnb4	T	C	9: 54,942,597 (GRCm39)	I226V	probably benign	Het
Dnajc2	T	C	5: 21,981,730 (GRCm39)	T139A	probably damaging	Het
Eml1	T	C	12: 108,502,570 (GRCm39)	F712S	probably benign	Het
Fgfr1	C	T	8: 26,060,181 (GRCm39)	S524L	probably damaging	Het
Gimap3	T	C	6: 48,742,306 (GRCm39)	E208G	probably damaging	Het
Gm12185	T	A	11: 48,798,375 (GRCm39)	D706V	probably benign	Het
Gucy1a2	T	A	9: 3,865,443 (GRCm39)	V639D	probably damaging	Het
Hivep2	T	C	10: 14,007,893 (GRCm39)	F1497S	probably benign	Het
Hunk	A	G	16: 90,293,554 (GRCm39)	D612G	probably benign	Het
Ifit3b	T	A	19: 34,589,948 (GRCm39)	S375T	possibly damaging	Het
Mucl1	A	G	15: 103,785,669 (GRCm39)	S13P	possibly damaging	Het
Or5w12	C	T	2: 87,502,174 (GRCm39)	C179Y	possibly damaging	Het
Or8k20	T	A	2: 86,106,384 (GRCm39)	Y149F	probably damaging	Het
Pah	T	A	10: 87,374,081 (GRCm39)	Y78*	probably null	Het
Pex13	A	G	11: 23,605,441 (GRCm39)	V263A	probably benign	Het
Pfdn2	T	A	1: 171,184,067 (GRCm39)		probably benign	Het
Phip	C	T	9: 82,753,897 (GRCm39)	V1616I	probably benign	Het
Pigg	A	G	5: 108,484,123 (GRCm39)	S457G	possibly damaging	Het
Ppp1r13b	A	G	12: 111,810,044 (GRCm39)	S97P	probably benign	Het
Slc22a6	T	C	19: 8,603,541 (GRCm39)	L535P	probably damaging	Het
Slc5a1	A	G	5: 33,315,624 (GRCm39)	T548A	probably damaging	Het
Smtnl2	T	A	11: 72,291,211 (GRCm39)	S346C	probably damaging	Het
Spata31d1a	A	G	13: 59,852,858 (GRCm39)		probably null	Het
Tmem135	A	G	7: 88,793,001 (GRCm39)	L411P	probably damaging	Het
Tnrc6c	T	C	11: 117,611,872 (GRCm39)	V170A	probably benign	Het

Other mutations in Tlcd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01137:Tlcd2	APN	11	75,360,337 (GRCm39)	missense	probably damaging	1.00
PIT4382001:Tlcd2	UTSW	11	75,359,417 (GRCm39)	missense	probably benign	0.08
R6879:Tlcd2	UTSW	11	75,360,514 (GRCm39)	missense	probably damaging	1.00
R8770:Tlcd2	UTSW	11	75,360,630 (GRCm39)	missense	probably damaging	1.00
R9516:Tlcd2	UTSW	11	75,359,112 (GRCm39)	missense	probably damaging	0.96
R9774:Tlcd2	UTSW	11	75,359,131 (GRCm39)	missense	probably damaging	0.99
Z1177:Tlcd2	UTSW	11	75,360,596 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGGCCTTCAGAGTAAGC -3'
(R):5'- TACAGTCTAGTCCTTGCTACATAGTAG -3'

Sequencing Primer
(F):5'- CTTCAGAGTAAGCAGTTGGGCC -3'
(R):5'- TAGACTATGCAGTGGGCTACC -3'

Posted On

2016-06-06