Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02303:Tlcd1'

287488

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 #

IGL02303

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,045,376 (GRCm39)	F319S	probably damaging	Het
Ap3b1	A	G	13: 94,664,827 (GRCm39)	D922G	unknown	Het
Bhlhe41	A	T	6: 145,809,882 (GRCm39)	H107Q	probably damaging	Het
Csmd2	C	A	4: 128,262,801 (GRCm39)	H662Q	probably benign	Het
Dnah8	T	C	17: 30,932,021 (GRCm39)	V1463A	probably benign	Het
Ebf3	A	T	7: 136,911,094 (GRCm39)	V140E	probably benign	Het
Havcr2	T	A	11: 46,370,108 (GRCm39)		probably benign	Het
Hexb	G	A	13: 97,313,401 (GRCm39)	A485V	probably damaging	Het
Igkv5-37	T	A	6: 69,940,473 (GRCm39)	Q57L	probably damaging	Het
Ipo5	T	A	14: 121,154,795 (GRCm39)	S40T	probably benign	Het
Kcnj8	A	G	6: 142,515,837 (GRCm39)	M90T	probably benign	Het
Kif21b	T	A	1: 136,087,495 (GRCm39)	L937Q	probably damaging	Het
Kmt2c	A	C	5: 25,515,155 (GRCm39)	L2896R	probably damaging	Het
Ldlrap1	A	T	4: 134,484,706 (GRCm39)	I96N	probably damaging	Het
Leo1	A	G	9: 75,353,281 (GRCm39)		probably benign	Het
Mbnl2	T	C	14: 120,642,059 (GRCm39)	M341T	probably benign	Het
Nfatc2	G	A	2: 168,348,821 (GRCm39)	R669*	probably null	Het
Nhlrc2	T	A	19: 56,563,280 (GRCm39)	V293E	probably damaging	Het
Or1e17	T	C	11: 73,831,276 (GRCm39)	F68S	possibly damaging	Het
Or2at1	A	G	7: 99,417,179 (GRCm39)	D270G	possibly damaging	Het
Or51ag1	A	T	7: 103,155,295 (GRCm39)	M286K	probably benign	Het
Or51ai2	A	G	7: 103,586,770 (GRCm39)	Q61R	possibly damaging	Het
Otoa	T	A	7: 120,732,147 (GRCm39)		probably null	Het
Pcnt	T	C	10: 76,278,393 (GRCm39)		probably benign	Het
Recql4	G	T	15: 76,592,771 (GRCm39)	Q307K	possibly damaging	Het
Sp140	T	A	1: 85,570,730 (GRCm39)	Y453*	probably null	Het
Sspo	G	A	6: 48,461,639 (GRCm39)	V3600I	possibly damaging	Het
Sybu	T	C	15: 44,536,619 (GRCm39)	E441G	probably benign	Het
Syne3	A	T	12: 104,929,553 (GRCm39)	H222Q	probably damaging	Het
Tef	T	C	15: 81,705,496 (GRCm39)	V173A	probably benign	Het
Tmod4	C	A	3: 95,032,953 (GRCm39)	Q30K	probably benign	Het
Tpgs1	T	C	10: 79,511,322 (GRCm39)	Y155H	probably damaging	Het
Trib3	G	A	2: 152,185,070 (GRCm39)	P60S	probably benign	Het
Ttn	T	A	2: 76,560,550 (GRCm39)	T20957S	probably damaging	Het
Vars1	T	C	17: 35,234,460 (GRCm39)		probably benign	Het
Vps13c	T	C	9: 67,852,763 (GRCm39)		probably benign	Het
Zc3h4	T	C	7: 16,168,002 (GRCm39)	S704P	unknown	Het
Zfp644	G	A	5: 106,785,180 (GRCm39)	R456W	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
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

2015-04-16