Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:Tlcd1'

438582

Institutional Source

Beutler Lab

Gene Symbol

Tlcd1

Ensembl Gene

ENSMUSG00000019437

Gene Name

TLC domain containing 1

Synonyms

0610007A15Rik, 0610030G03Rik

MMRRC Submission

043137-MU

Accession Numbers

Essential gene?

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

Stock #

R5583 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

78068956-78071646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78069762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 25 (V25G)

Ref Sequence

ENSEMBL: ENSMUSP00000114202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017549] [ENSMUST00000092880] [ENSMUST00000098545] [ENSMUST00000102483] [ENSMUST00000108338] [ENSMUST00000127587] [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
AA Change: V25G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000096145
Gene: ENSMUSG00000019437
AA Change: V25G

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: ENSMUST00000108338
AA Change: V25G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103975
Gene: ENSMUSG00000019437
AA Change: V25G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127587
AA Change: V25G

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114202
Gene: ENSMUSG00000019437
AA Change: V25G

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

noncoding transcript
Transcript: ENSMUST00000127270

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184358

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144561

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131015

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,793,083 (GRCm39)	L8Q	probably damaging	Het
Abca4	T	C	3: 121,942,550 (GRCm39)	V1681A	probably damaging	Het
Abce1	G	T	8: 80,416,922 (GRCm39)	A363E	probably benign	Het
Adgrl2	T	C	3: 148,564,800 (GRCm39)	Y256C	probably damaging	Het
Afm	T	C	5: 90,695,740 (GRCm39)	C416R	probably damaging	Het
Ahnak	T	A	19: 8,984,281 (GRCm39)	V1855D	probably damaging	Het
Alb	A	T	5: 90,616,452 (GRCm39)	H319L	probably benign	Het
Ankrd35	G	T	3: 96,592,219 (GRCm39)	R835L	probably damaging	Het
Atg2b	T	C	12: 105,615,414 (GRCm39)	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,394,436 (GRCm39)	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473 (GRCm39)	N323K	probably damaging	Het
Cops9	A	T	1: 92,567,489 (GRCm39)		probably benign	Het
Crybg1	T	C	10: 43,879,506 (GRCm39)	T561A	probably benign	Het
Dcdc5	T	C	2: 106,195,778 (GRCm39)		noncoding transcript	Het
Dnah7b	G	T	1: 46,281,359 (GRCm39)	A2807S	probably benign	Het
Fam149b	A	G	14: 20,413,368 (GRCm39)	T196A	possibly damaging	Het
Fam217a	C	A	13: 35,094,280 (GRCm39)	C402F	probably damaging	Het
Fat2	A	T	11: 55,144,715 (GRCm39)	V4053E	probably benign	Het
Fcgbp	T	C	7: 27,791,004 (GRCm39)	V755A	probably damaging	Het
Fxr1	C	A	3: 34,123,125 (GRCm39)	S641R	probably benign	Het
Gata5	A	T	2: 179,976,047 (GRCm39)	M39K	probably benign	Het
Gon4l	T	A	3: 88,807,278 (GRCm39)	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,400,110 (GRCm39)	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Helq	T	C	5: 100,910,459 (GRCm39)	E1039G	probably damaging	Het
Hibch	T	A	1: 52,940,406 (GRCm39)	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 137,949,426 (GRCm39)	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,089,101 (GRCm39)	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,634,060 (GRCm39)	D17G	probably benign	Het
Kprp	T	A	3: 92,731,643 (GRCm39)	Y469F	unknown	Het
Kremen2	T	C	17: 23,961,229 (GRCm39)	T373A	probably benign	Het
Lgi4	A	G	7: 30,760,562 (GRCm39)	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,314,409 (GRCm39)	D176G	probably benign	Het
Lrp1	T	C	10: 127,424,332 (GRCm39)	S785G	probably benign	Het
Ltbp1	A	T	17: 75,598,325 (GRCm39)	Q920L	probably benign	Het
Map2	A	G	1: 66,455,196 (GRCm39)	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,409,272 (GRCm39)	S8P	probably damaging	Het
Or2h1b	T	C	17: 37,462,485 (GRCm39)	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,654,892 (GRCm39)	R888Q	possibly damaging	Het
Per1	A	G	11: 68,994,271 (GRCm39)	H494R	probably damaging	Het
Pira2	A	G	7: 3,845,545 (GRCm39)	F280L	probably benign	Het
Plekhm3	C	T	1: 64,977,145 (GRCm39)	W108*	probably null	Het
Ptcd3	A	G	6: 71,879,920 (GRCm39)	S113P	probably damaging	Het
Scarf1	T	C	11: 75,404,842 (GRCm39)	L42P	possibly damaging	Het
Scart2	G	A	7: 139,876,739 (GRCm39)	C710Y	probably damaging	Het
Skint1	A	C	4: 111,876,253 (GRCm39)	Q58P	probably damaging	Het
Spata7	A	T	12: 98,635,590 (GRCm39)	N438I	probably damaging	Het
Spdya	C	A	17: 71,876,126 (GRCm39)	D164E	probably damaging	Het
Speer3	G	A	5: 13,844,782 (GRCm39)		probably null	Het
Ssc4d	A	T	5: 135,999,050 (GRCm39)	L51H	probably damaging	Het
Steap1	A	G	5: 5,790,579 (GRCm39)	I123T	possibly damaging	Het
Styx	T	A	14: 45,608,483 (GRCm39)	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,475,890 (GRCm39)		probably benign	Het
Tfb2m	A	G	1: 179,373,446 (GRCm39)	V84A	probably benign	Het
Tmem79	T	C	3: 88,239,870 (GRCm39)	Y280C	probably damaging	Het
Trim5	T	A	7: 103,926,042 (GRCm39)	N173I	probably damaging	Het
Ttc17	A	T	2: 94,208,027 (GRCm39)	D194E	probably damaging	Het
Zfp2	T	C	11: 50,790,984 (GRCm39)	E353G	possibly 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
R2446:Tlcd1	UTSW	11	78,069,623 (GRCm39)	unclassified	probably benign
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

PCR Primer
(F):5'- TTGAGAGAGGAGCGTTCTCG -3'
(R):5'- GATCCTTGGCGTCTGTTCAC -3'

Sequencing Primer
(F):5'- TTGAGGGCTCCGCGAAAC -3'
(R):5'- CGTCTGTTCACCCGTGATGG -3'

Posted On

2016-10-26