Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01797:Tlcd1'

155408

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01797

Quality Score

Status

Chromosome

Chromosomal Location

78068956-78071646 bp(+) (GRCm39)

Type of Mutation

splice site (459 bp from exon)

DNA Base Change (assembly)

A to G at 78071160 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103975 (fasta)

Gene Model

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

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: ENSMUST00000140379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141578

Predicted Effect

probably null
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

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	C	7: 120,113,760 (GRCm39)	V877A	probably benign	Het
Clcn2	T	C	16: 20,531,511 (GRCm39)	I178V	probably damaging	Het
Cnbp	A	G	6: 87,822,542 (GRCm39)		probably benign	Het
Coq8a	A	T	1: 179,997,284 (GRCm39)		probably null	Het
Dctn2	A	G	10: 127,113,182 (GRCm39)	D244G	possibly damaging	Het
Dync1h1	T	A	12: 110,618,630 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,089,794 (GRCm39)	Y381C	probably damaging	Het
Faiml	T	C	9: 99,116,442 (GRCm39)	K83E	probably damaging	Het
Fdx1	A	T	9: 51,854,925 (GRCm39)	C159*	probably null	Het
Fgd3	A	T	13: 49,443,065 (GRCm39)	V169E	probably damaging	Het
Ice1	G	T	13: 70,772,065 (GRCm39)	T51K	probably damaging	Het
Iqca1	A	C	1: 90,072,541 (GRCm39)		probably null	Het
Jup	C	A	11: 100,272,498 (GRCm39)		probably benign	Het
Krt84	A	G	15: 101,436,915 (GRCm39)	V373A	possibly damaging	Het
Ndst4	T	A	3: 125,476,802 (GRCm39)	M9K	probably damaging	Het
Nomo1	T	C	7: 45,706,086 (GRCm39)	V480A	probably damaging	Het
Nsun5	A	G	5: 135,404,225 (GRCm39)	H344R	probably damaging	Het
Or13a21	A	G	7: 139,998,931 (GRCm39)	Y252H	probably damaging	Het
Or1e1f	A	T	11: 73,855,644 (GRCm39)	D70V	probably damaging	Het
Pjvk	T	C	2: 76,487,883 (GRCm39)		probably benign	Het
Prkaa1	G	A	15: 5,198,187 (GRCm39)	D159N	probably damaging	Het
Sap130	T	A	18: 31,831,721 (GRCm39)	I736N	probably damaging	Het
Tpp1	T	C	7: 105,398,459 (GRCm39)	I286V	probably benign	Het
Ttll5	T	A	12: 86,003,371 (GRCm39)	I1069K	possibly damaging	Het
Ttn	T	G	2: 76,540,257 (GRCm39)	E34243A	possibly damaging	Het
Uqcr10	A	C	11: 4,654,179 (GRCm39)	I43S	possibly damaging	Het
Ush2a	T	A	1: 187,995,706 (GRCm39)	M159K	probably damaging	Het
Vmn2r121	G	A	X: 123,041,048 (GRCm39)		probably benign	Het
Vmn2r30	T	A	7: 7,337,195 (GRCm39)	D147V	probably benign	Het
Xntrpc	T	C	7: 101,739,753 (GRCm39)	I559T	possibly damaging	Het
Zfp268	T	A	4: 145,347,241 (GRCm39)	N48K	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
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
R2446:Tlcd1	UTSW	11	78,069,623 (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

Posted On

2014-02-04