Mutagenetix > Incidental Mutation

Incidental Mutation 'R9080:Tlcd5'

689967

Institutional Source

Beutler Lab

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 #

R9080 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43019945-43027865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43022664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 230 (R230Q)

Ref Sequence

ENSEMBL: ENSMUSP00000051435 (fasta)

Gene Model

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

AlphaFold

Q3TYE7

Predicted Effect

probably benign
Transcript: ENSMUST00000061833
AA Change: R230Q

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

SMART Domains

Protein: ENSMUSP00000051435
Gene: ENSMUSG00000048503
AA Change: R230Q

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: R230Q

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

Predicted Effect

probably benign
Transcript: ENSMUST00000216126

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	C	6: 52,155,973 (GRCm39)	I13T	unknown	Het
Adad1	G	T	3: 37,119,398 (GRCm39)	V160L	probably benign	Het
Adamts6	T	A	13: 104,449,427 (GRCm39)	M279K	probably damaging	Het
Adgra2	T	C	8: 27,604,529 (GRCm39)	S535P	probably benign	Het
Akr1c13	C	T	13: 4,241,172 (GRCm39)		probably benign	Het
Anapc1	A	G	2: 128,464,426 (GRCm39)	I1690T	possibly damaging	Het
Ccdc138	A	G	10: 58,397,884 (GRCm39)	M575V	probably damaging	Het
Cfap100	T	C	6: 90,383,183 (GRCm39)	N330S	unknown	Het
Col12a1	T	C	9: 79,517,133 (GRCm39)	D2849G	probably benign	Het
Cox11	G	A	11: 90,535,246 (GRCm39)	M232I	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cspp1	G	A	1: 10,183,919 (GRCm39)	S848N	probably benign	Het
Cxcr5	A	G	9: 44,424,563 (GRCm39)	S365P	probably damaging	Het
Dclre1c	A	T	2: 3,458,589 (GRCm39)	M389L	probably benign	Het
Dlc1	T	C	8: 37,052,006 (GRCm39)	D124G	probably benign	Het
Dtx3	A	T	10: 127,027,137 (GRCm39)	S346T	possibly damaging	Het
Exosc10	A	G	4: 148,649,121 (GRCm39)	D337G	probably damaging	Het
Fpr1	G	A	17: 18,097,212 (GRCm39)	A259V	probably benign	Het
Gm11232	A	T	4: 71,676,070 (GRCm39)	M25K	probably benign	Het
Gm4950	A	G	18: 51,998,922 (GRCm39)	V11A	possibly damaging	Het
Gsap	C	T	5: 21,399,410 (GRCm39)	T37I	possibly damaging	Het
Igfbp2	T	A	1: 72,891,157 (GRCm39)	C252S	probably damaging	Het
Ing2	T	C	8: 48,121,808 (GRCm39)	T247A	possibly damaging	Het
Ints1	C	T	5: 139,739,300 (GRCm39)	V2028M	probably benign	Het
Itfg1	A	G	8: 86,466,874 (GRCm39)	F400L	possibly damaging	Het
Itga6	A	G	2: 71,673,633 (GRCm39)	Y889C	probably benign	Het
Kcnh3	A	G	15: 99,139,667 (GRCm39)	E882G	probably damaging	Het
Limch1	T	A	5: 67,174,992 (GRCm39)	C515S	probably benign	Het
Lrrc74a	G	T	12: 86,795,908 (GRCm39)	V294F	possibly damaging	Het
Megf8	A	G	7: 25,041,131 (GRCm39)	E1120G	probably damaging	Het
Nbea	A	T	3: 55,912,516 (GRCm39)	Y1090*	probably null	Het
Nckap1	A	G	2: 80,350,726 (GRCm39)	Y794H	probably damaging	Het
Nfib	T	C	4: 82,623,754 (GRCm39)	M25V		Het
Ogfod2	A	G	5: 124,253,007 (GRCm39)	E339G	probably damaging	Het
Olah	T	A	2: 3,349,389 (GRCm39)	E64V	probably damaging	Het
Or2a14	T	A	6: 43,130,830 (GRCm39)	V197D	possibly damaging	Het
Or9a4	T	A	6: 40,548,563 (GRCm39)	L81H	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,624 (GRCm39)	K120M	probably damaging	Het
Pex1	A	G	5: 3,655,476 (GRCm39)	I134V	probably damaging	Het
Plekhm2	T	C	4: 141,359,039 (GRCm39)	H576R	probably damaging	Het
Ptpn13	T	A	5: 103,637,494 (GRCm39)	H127Q	probably damaging	Het
Rmnd5b	C	T	11: 51,515,055 (GRCm39)		probably null	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Sec16b	C	A	1: 157,393,300 (GRCm39)	Q995K	probably benign	Het
Serpinb6d	T	A	13: 33,855,107 (GRCm39)	S260R	probably benign	Het
Slc47a1	C	T	11: 61,264,219 (GRCm39)	G67S	possibly damaging	Het
Slco6d1	T	C	1: 98,348,983 (GRCm39)	V18A	probably benign	Het
Tfcp2	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	GGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGAGTAATCCAAAGAGATGGACTGGTGGCTGTCCTGCTGCTGA	15: 100,395,968 (GRCm39)		probably null	Het
Tiam2	T	G	17: 3,464,519 (GRCm39)	C83G	probably benign	Het
Tln2	C	T	9: 67,253,843 (GRCm39)	G743R	probably damaging	Het
Tnks	CCCGCCGCCGCCGCCGCCGCCG	CCCGCCGCCGCCGCCGCCG	8: 35,432,466 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,536,843 (GRCm39)	T34994I	probably benign	Het
Ube2q2l	T	A	6: 136,377,720 (GRCm39)	D370V	probably damaging	Het
Uggt2	T	A	14: 119,295,017 (GRCm39)	E536D	probably benign	Het
Usp54	T	C	14: 20,612,308 (GRCm39)	E836G	probably damaging	Het
Vmn1r41	C	T	6: 89,724,138 (GRCm39)	T63M	unknown	Het
Vmn2r72	A	C	7: 85,387,464 (GRCm39)	I700S	probably damaging	Het
Xrcc4	T	C	13: 90,149,097 (GRCm39)	N141S	probably damaging	Het
Zfp638	T	C	6: 83,844,155 (GRCm39)	V6A	unknown	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
IGL02649:Tlcd5	APN	9	43,022,783 (GRCm39)	missense	probably benign	0.00
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
R9084:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign
R9086:Tlcd5	UTSW	9	43,022,664 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ACTGCATATGCTTAGCCTGG -3'
(R):5'- GGCCACTATCACAGTTTCACG -3'

Sequencing Primer
(F):5'- TGCTTAGCCTGGAAAATGACTG -3'
(R):5'- ACTATCACAGTTTCACGGGGGATG -3'

Posted On

2021-11-19