Mutagenetix > Incidental Mutation

Incidental Mutation 'R0605:Tle6'

55666

Institutional Source

Beutler Lab

Gene Symbol

Tle6

Ensembl Gene

ENSMUSG00000034758

Gene Name

transducin-like enhancer of split 6

Synonyms

1810057E06Rik, Grg6

MMRRC Submission

038794-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.237) question?

Stock #

R0605 (G1)

Quality Score

139

Status

Validated

Chromosome

Chromosomal Location

81590904-81601073 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 81594346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 324 (H324L)

Ref Sequence

ENSEMBL: ENSMUSP00000117287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072020] [ENSMUST00000127546] [ENSMUST00000135211] [ENSMUST00000142948] [ENSMUST00000151858] [ENSMUST00000146358] [ENSMUST00000146916]

AlphaFold

Q9WVB3

Predicted Effect

probably damaging
Transcript: ENSMUST00000072020
AA Change: H334L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: H334L

Domain	Start	End	E-Value	Type
WD40	283	320	9.6e-2	SMART
Blast:WD40	334	372	2e-12	BLAST
WD40	377	415	6.16e0	SMART
WD40	418	455	7.43e-1	SMART
Blast:WD40	460	496	4e-13	BLAST
WD40	499	538	1.43e0	SMART
WD40	541	578	2.97e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124724

Predicted Effect

probably benign
Transcript: ENSMUST00000124854

SMART Domains

Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Blast:WD40	6	44	9e-20	BLAST
WD40	46	85	1.2e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127546

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129798

Predicted Effect

probably benign
Transcript: ENSMUST00000131411

SMART Domains

Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
WD40	36	75	1.2e-2	SMART
WD40	76	116	2.07e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135008

Predicted Effect

probably benign
Transcript: ENSMUST00000135211

SMART Domains

Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	122	3e-68	PFAM
low complexity region	133	160	N/A	INTRINSIC
low complexity region	172	194	N/A	INTRINSIC
low complexity region	262	277	N/A	INTRINSIC
low complexity region	332	352	N/A	INTRINSIC
WD40	436	473	5.6e-3	SMART
WD40	479	520	9.6e-2	SMART
WD40	525	564	1.88e-4	SMART
WD40	567	606	3.72e-8	SMART
Blast:WD40	609	647	8e-18	BLAST
WD40	649	688	1.2e-2	SMART
WD40	689	729	2.07e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000142948
AA Change: H324L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: H324L

Domain	Start	End	E-Value	Type
WD40	273	310	9.6e-2	SMART
Blast:WD40	324	362	2e-12	BLAST
WD40	367	405	6.16e0	SMART
WD40	408	445	7.43e-1	SMART
Blast:WD40	450	486	4e-13	BLAST
WD40	489	528	1.43e0	SMART
WD40	531	568	2.97e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149721

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146239

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153812

Predicted Effect

probably benign
Transcript: ENSMUST00000151858

SMART Domains

Protein: ENSMUSP00000119945
Gene: ENSMUSG00000034758

Domain	Start	End	E-Value	Type
low complexity region	69	77	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146358

SMART Domains

Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	64	2e-31	PFAM
Pfam:TLE_N	81	154	4.3e-34	PFAM
low complexity region	167	194	N/A	INTRINSIC
low complexity region	206	228	N/A	INTRINSIC
low complexity region	296	311	N/A	INTRINSIC
low complexity region	366	386	N/A	INTRINSIC
WD40	471	508	5.6e-3	SMART
WD40	514	555	9.6e-2	SMART
WD40	560	599	1.88e-4	SMART
WD40	602	641	3.72e-8	SMART
Blast:WD40	644	682	9e-18	BLAST
WD40	684	723	1.2e-2	SMART
WD40	724	764	2.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146916

SMART Domains

Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	134	1.6e-75	PFAM
low complexity region	144	171	N/A	INTRINSIC
low complexity region	183	205	N/A	INTRINSIC
low complexity region	273	288	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
WD40	435	472	5.6e-3	SMART
WD40	478	519	9.6e-2	SMART
WD40	524	563	1.88e-4	SMART
WD40	566	605	3.72e-8	SMART
WD40	648	687	1.2e-2	SMART

Meta Mutation Damage Score

0.1456

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933406P04Rik	G	A	10: 20,311,227		probably benign	Het
Adam28	A	T	14: 68,606,600		probably benign	Het
Adamts3	A	G	5: 89,861,475	W110R	possibly damaging	Het
Add1	T	C	5: 34,614,224	V342A	possibly damaging	Het
Aff3	A	G	1: 38,209,987	S680P	probably damaging	Het
Ak9	T	C	10: 41,345,139	Y322H	probably damaging	Het
Als2	A	G	1: 59,168,414	L1528S	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Atp6v1a	A	C	16: 44,111,496		probably null	Het
Bpi	T	C	2: 158,261,394	L103P	probably damaging	Het
Cd80	G	A	16: 38,482,694	V168I	probably benign	Het
Cfh	T	C	1: 140,102,358	S926G	probably damaging	Het
Chrd	A	T	16: 20,735,439	T304S	probably damaging	Het
Chsy3	A	G	18: 59,409,053	Y421C	probably damaging	Het
Cmbl	T	G	15: 31,585,309	V101G	probably damaging	Het
Colgalt2	T	A	1: 152,495,792		probably benign	Het
Coq4	C	T	2: 29,789,998	Q101*	probably null	Het
Cr2	T	C	1: 195,163,596		probably benign	Het
Cry1	T	C	10: 85,184,359	D38G	probably damaging	Het
Dmxl2	T	C	9: 54,419,945	D758G	probably benign	Het
Epsti1	C	T	14: 77,927,237		probably benign	Het
Fam24b	T	C	7: 131,327,186		probably benign	Het
Fem1c	G	A	18: 46,505,160	R592C	probably benign	Het
Foxred1	T	C	9: 35,204,882	Y490C	possibly damaging	Het
Gm14124	A	G	2: 150,268,603	I404M	unknown	Het
Gm9875	A	G	2: 13,557,888	K9R	unknown	Het
Grid2ip	T	C	5: 143,379,362	S322P	probably damaging	Het
Gucy1b2	A	G	14: 62,403,159		probably benign	Het
Hmcn1	A	T	1: 150,657,376		probably null	Het
Hpdl	C	T	4: 116,820,787	S159N	possibly damaging	Het
Hsd17b12	A	T	2: 94,033,642	M285K	probably benign	Het
Icam5	T	C	9: 21,032,197	I23T	probably benign	Het
Kat5	A	G	19: 5,608,336		probably benign	Het
Lama3	A	G	18: 12,506,949	N67S	probably benign	Het
Lamb2	T	C	9: 108,486,105		probably benign	Het
Lgals3bp	A	G	11: 118,393,394	F453S	probably damaging	Het
Lypd4	A	G	7: 24,865,375	Y113H	probably damaging	Het
Mdm1	C	T	10: 118,146,601	T47M	probably damaging	Het
Mei1	C	A	15: 82,070,150	T52K	probably benign	Het
Meiob	G	A	17: 24,818,262		probably benign	Het
Ndufaf6	A	G	4: 11,051,224	V292A	probably damaging	Het
Neb	T	A	2: 52,264,026	M2358L	possibly damaging	Het
Nlrp1b	A	G	11: 71,156,179	S1119P	possibly damaging	Het
Nsmaf	A	G	4: 6,418,470		probably null	Het
Ogfod1	T	C	8: 94,047,267		probably benign	Het
Olfr1097	T	C	2: 86,890,419	Y252C	possibly damaging	Het
Olfr1410	G	T	1: 92,607,896	V20L	probably benign	Het
Olfr291	T	C	7: 84,857,137	I256T	probably damaging	Het
Osbpl1a	T	A	18: 12,882,279		probably null	Het
Otud7b	T	A	3: 96,144,959		probably benign	Het
P3h3	T	A	6: 124,856,035	H185L	probably damaging	Het
P4htm	G	A	9: 108,583,724	A183V	probably null	Het
Peak1	C	T	9: 56,227,098		probably benign	Het
Phf20l1	A	G	15: 66,595,122	K88R	probably damaging	Het
Phlpp2	A	G	8: 109,933,211	N721S	probably benign	Het
Plagl2	T	C	2: 153,235,944	K39R	probably benign	Het
Plppr1	A	T	4: 49,323,466	N252I	probably damaging	Het
Pom121l2	C	T	13: 21,982,036	A159V	probably damaging	Het
Prom2	C	A	2: 127,539,995		probably null	Het
Prrc2c	T	C	1: 162,682,426	T1017A	probably damaging	Het
Rimbp3	G	T	16: 17,211,699	A996S	probably damaging	Het
Rnf213	A	G	11: 119,431,717	T1387A	probably benign	Het
Scaper	A	T	9: 55,815,518		probably benign	Het
Scara5	A	G	14: 65,759,648	E403G	possibly damaging	Het
Scrib	T	C	15: 76,067,553	I94V	possibly damaging	Het
Shank3	T	C	15: 89,524,147	F67L	possibly damaging	Het
Shprh	T	C	10: 11,207,112	F1562L	probably damaging	Het
Src	C	T	2: 157,469,921	T529M	probably damaging	Het
Sycp2l	T	A	13: 41,143,466	M341K	probably benign	Het
Syde1	T	C	10: 78,589,095		probably benign	Het
Tarsl2	A	T	7: 65,678,071	R509S	probably damaging	Het
Tnfaip8	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	18: 50,046,845		probably benign	Het
Tnfrsf14	T	A	4: 154,925,380	K115*	probably null	Het
Trappc10	T	C	10: 78,201,497	N824S	possibly damaging	Het
Tsc1	C	T	2: 28,671,778	S309F	probably damaging	Het
Ttc21a	A	G	9: 119,961,842	I885V	possibly damaging	Het
Ttn	C	T	2: 76,740,453	A26699T	probably damaging	Het
Ttn	T	C	2: 76,948,371	Y1262C	unknown	Het
Usp49	T	C	17: 47,674,926		probably null	Het
Vmn1r226	A	T	17: 20,687,871	T122S	probably benign	Het
Vps8	A	T	16: 21,559,337	T1033S	probably benign	Het
Vwf	C	A	6: 125,685,837	T2728K	probably benign	Het
Wdr5b	T	C	16: 36,041,996	S162P	probably benign	Het
Xrn1	C	T	9: 96,026,877	Q1235*	probably null	Het

Other mutations in Tle6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Tle6	APN	10	81594458	missense	probably damaging	1.00
IGL02151:Tle6	APN	10	81598640	missense	probably benign	0.01
IGL02724:Tle6	APN	10	81600064	nonsense	probably null
R0420:Tle6	UTSW	10	81595311	unclassified	probably benign
R0423:Tle6	UTSW	10	81598623	missense	possibly damaging	0.95
R0589:Tle6	UTSW	10	81595419	unclassified	probably benign
R1554:Tle6	UTSW	10	81595385	missense	probably benign	0.05
R1860:Tle6	UTSW	10	81594329	missense	probably damaging	1.00
R1863:Tle6	UTSW	10	81591921	missense	possibly damaging	0.91
R1952:Tle6	UTSW	10	81595485	missense	possibly damaging	0.82
R2139:Tle6	UTSW	10	81594034	missense	probably damaging	0.99
R2337:Tle6	UTSW	10	81592656	splice site	probably null
R2849:Tle6	UTSW	10	81594401	missense	probably damaging	1.00
R3158:Tle6	UTSW	10	81595204	splice site	probably null
R3777:Tle6	UTSW	10	81596153	missense	probably benign	0.23
R3778:Tle6	UTSW	10	81596153	missense	probably benign	0.23
R4085:Tle6	UTSW	10	81594515	splice site	probably null
R5058:Tle6	UTSW	10	81594238	missense	possibly damaging	0.93
R5058:Tle6	UTSW	10	81595957	missense	probably damaging	1.00
R5183:Tle6	UTSW	10	81592801	missense	probably damaging	0.97
R6225:Tle6	UTSW	10	81592766	missense	probably damaging	1.00
R6331:Tle6	UTSW	10	81595239	missense	probably benign	0.00
R6514:Tle6	UTSW	10	81591976	missense	probably damaging	1.00
R6515:Tle6	UTSW	10	81591976	missense	probably damaging	1.00
R6517:Tle6	UTSW	10	81591976	missense	probably damaging	1.00
R7145:Tle6	UTSW	10	81600076	missense	possibly damaging	0.66
R8070:Tle6	UTSW	10	81598642	missense	possibly damaging	0.79
R8085:Tle6	UTSW	10	81595958	missense	probably damaging	1.00
R8194:Tle6	UTSW	10	81591054	missense	probably damaging	0.98
R9066:Tle6	UTSW	10	81594378	missense	possibly damaging	0.69
R9421:Tle6	UTSW	10	81594034	missense
R9433:Tle6	UTSW	10	81591046	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGATCACGCCAGGTAAGTTGTATCC -3'
(R):5'- CTGTAATCAGCCTAGCACAGCACTC -3'

Sequencing Primer
(F):5'- CAGGTAAGTTGTATCCACCCG -3'
(R):5'- GCAATTAGAGAGGTTCACTGTCC -3'

Posted On

2013-07-11