Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00847:Tlcd1'

14465

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: 0.148) question?

Stock #

IGL00847

Quality Score

Status

Chromosome

Chromosomal Location

78068956-78071646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 78070914 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 168 (Y168N)

Ref Sequence

ENSEMBL: ENSMUSP00000114202 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000092880
AA Change: Y151N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000090556
Gene: ENSMUSG00000019437
AA Change: Y151N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000098545
AA Change: Y168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437
AA Change: Y168N

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 damaging
Transcript: ENSMUST00000127587
AA Change: Y168N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437
AA Change: Y168N

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: ENSMUST00000131015

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

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

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,140,722 (GRCm39)	E142G	possibly damaging	Het
Arid4a	C	T	12: 71,122,492 (GRCm39)	P958S	probably damaging	Het
Cct5	T	C	15: 31,591,073 (GRCm39)		probably benign	Het
Cntnap4	C	T	8: 113,494,251 (GRCm39)		probably benign	Het
Col4a3	C	T	1: 82,695,590 (GRCm39)	L1597F	probably damaging	Het
Gla	C	A	X: 133,495,947 (GRCm39)	V179L	probably benign	Het
Gm20422	A	T	8: 70,195,642 (GRCm39)	C212*	probably null	Het
Hace1	T	A	10: 45,548,453 (GRCm39)	Y14*	probably null	Het
Hcfc2	T	A	10: 82,577,112 (GRCm39)		probably null	Het
Helz2	T	C	2: 180,874,038 (GRCm39)	D2152G	possibly damaging	Het
Lypd10	A	G	7: 24,413,673 (GRCm39)	T230A	probably benign	Het
Mcm8	T	G	2: 132,661,594 (GRCm39)	L74V	probably benign	Het
Myo18b	A	G	5: 112,978,255 (GRCm39)		probably benign	Het
Ptprg	A	T	14: 12,215,265 (GRCm38)	N1084I	probably damaging	Het
Rad21l	C	A	2: 151,502,635 (GRCm39)	A192S	probably benign	Het
Scn2a	A	G	2: 65,501,078 (GRCm39)	D80G	probably damaging	Het
Serpinb3c	A	G	1: 107,203,990 (GRCm39)		probably null	Het
Sgip1	A	G	4: 102,786,118 (GRCm39)		probably benign	Het
Slc25a41	G	T	17: 57,341,957 (GRCm39)		probably null	Het
Snx14	C	A	9: 88,302,382 (GRCm39)	R140S	probably damaging	Het
Svs6	A	C	2: 164,159,507 (GRCm39)	K90T	possibly damaging	Het
Vps13d	A	G	4: 144,811,978 (GRCm39)	I3312T	probably benign	Het
Zfp11	A	G	5: 129,734,978 (GRCm39)	V161A	probably benign	Het

Other mutations in Tlcd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06