Mutagenetix > Incidental Mutation

Incidental Mutation 'R2446:Tlcd1'

266182

Institutional Source

Beutler Lab

Gene Symbol

Tlcd1

Ensembl Gene

ENSMUSG00000019437

Gene Name

TLC domain containing 1

Synonyms

0610007A15Rik, 0610030G03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R2446 (G1)

Quality Score

149

Status

Not validated

Chromosome

Chromosomal Location

78068956-78071646 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 78069623 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127554 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000092880] [ENSMUST00000098545] [ENSMUST00000102483] [ENSMUST00000127587] [ENSMUST00000108338] [ENSMUST00000147819] [ENSMUST00000148154]

AlphaFold

Q99JT6

Predicted Effect

probably benign
Transcript: ENSMUST00000017549

SMART Domains

Protein: ENSMUSP00000017549
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
S_TKc	4	258	1.59e-81	SMART
low complexity region	288	316	N/A	INTRINSIC
low complexity region	364	378	N/A	INTRINSIC
Pfam:RCC1	415	464	4.1e-12	PFAM
Pfam:RCC1_2	451	480	9.2e-10	PFAM
Pfam:RCC1	467	516	9.9e-16	PFAM
Pfam:RCC1	585	634	4.4e-15	PFAM
Pfam:RCC1	637	687	2e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082606

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083742

Predicted Effect

probably benign
Transcript: ENSMUST00000092880

SMART Domains

Protein: ENSMUSP00000090556
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
TLC	28	217	1.19e-36	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098545

SMART Domains

Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
TLC	40	207	5.98e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102483

SMART Domains

Protein: ENSMUSP00000099541
Gene: ENSMUSG00000058546

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L23eN	15	68	9.7e-26	PFAM
Pfam:Ribosomal_L23	74	153	1.8e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000104437

Predicted Effect

probably benign
Transcript: ENSMUST00000127587

SMART Domains

Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
TLC	40	234	1.41e-52	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141578

Predicted Effect

probably benign
Transcript: ENSMUST00000108338

SMART Domains

Protein: ENSMUSP00000103975
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
Pfam:TRAM_LAG1_CLN8	44	122	3.3e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

probably benign
Transcript: ENSMUST00000147819

SMART Domains

Protein: ENSMUSP00000126593
Gene: ENSMUSG00000019437

Domain	Start	End	E-Value	Type
Pfam:TRAM_LAG1_CLN8	33	103	4.1e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000148154

SMART Domains

Protein: ENSMUSP00000127554
Gene: ENSMUSG00000017405

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	103	4.1e-20	PFAM
Pfam:Pkinase_Tyr	1	103	3.2e-12	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,225,101 (GRCm39)	R527G	probably benign	Het
Cap1	T	A	4: 122,758,401 (GRCm39)	I260F	probably benign	Het
Chst9	T	C	18: 15,585,895 (GRCm39)	K223E	possibly damaging	Het
Dpy19l4	A	T	4: 11,304,143 (GRCm39)		probably null	Het
Ercc2	T	C	7: 19,120,869 (GRCm39)	I223T	probably damaging	Het
Hydin	T	C	8: 111,314,347 (GRCm39)	L4277P	possibly damaging	Het
Ibtk	T	C	9: 85,585,126 (GRCm39)	N1173D	probably benign	Het
Klra17	T	A	6: 129,808,477 (GRCm39)	H252L	probably benign	Het
Lmf1	G	A	17: 25,873,445 (GRCm39)	V317M	probably damaging	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Npc1	A	G	18: 12,347,396 (GRCm39)	V208A	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or5b107	T	G	19: 13,142,811 (GRCm39)	C144W	probably benign	Het
P2rx7	A	T	5: 122,818,879 (GRCm39)	M434L	probably benign	Het
Pcdhb9	G	A	18: 37,536,340 (GRCm39)	G778E	probably damaging	Het
Prss3b	A	G	6: 41,008,582 (GRCm39)	I244T	probably benign	Het
Scn7a	A	G	2: 66,523,002 (GRCm39)	Y901H	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Vmn2r3	A	G	3: 64,182,733 (GRCm39)	I322T	probably damaging	Het
Zbtb38	C	T	9: 96,569,699 (GRCm39)	V462M	probably damaging	Het

Other mutations in Tlcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00847:Tlcd1	APN	11	78,070,914 (GRCm39)	missense	probably damaging	1.00
IGL01014:Tlcd1	APN	11	78,070,283 (GRCm39)	splice site	probably null
IGL01797:Tlcd1	APN	11	78,071,160 (GRCm39)	splice site	probably null
IGL02303:Tlcd1	APN	11	78,071,160 (GRCm39)	splice site	probably null
IGL02638:Tlcd1	APN	11	78,070,444 (GRCm39)	missense	probably benign	0.18
IGL02685:Tlcd1	APN	11	78,070,363 (GRCm39)	unclassified	probably benign
R5583:Tlcd1	UTSW	11	78,069,762 (GRCm39)	missense	probably benign	0.05
R8712:Tlcd1	UTSW	11	78,070,470 (GRCm39)	makesense	probably null
RF002:Tlcd1	UTSW	11	78,071,020 (GRCm39)	missense	probably benign	0.01

Predicted Primers

Posted On

2015-02-05