Mutagenetix > Incidental Mutation

Incidental Mutation 'R1863:Tle6'

204131

Institutional Source

Beutler Lab

Gene Symbol

Tle6

Ensembl Gene

ENSMUSG00000034758

Gene Name

transducin-like enhancer of split 6

Synonyms

1810057E06Rik, Grg6

MMRRC Submission

039886-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R1863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81426738-81436907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81427755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 500 (D500G)

Ref Sequence

ENSEMBL: ENSMUSP00000117287 (fasta)

Gene Model

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

AlphaFold

Q9WVB3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072020
AA Change: D510G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758
AA Change: D510G

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

possibly damaging
Transcript: ENSMUST00000142948
AA Change: D500G

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758
AA Change: D500G

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: ENSMUST00000135008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134457

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140433

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131530

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146239

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: 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

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

noncoding transcript
Transcript: ENSMUST00000153379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149721

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: 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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.0%
20x: 90.8%

Validation Efficiency

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,527,746 (GRCm39)	S1015T	probably damaging	Het
Adamts10	T	A	17: 33,770,406 (GRCm39)		probably null	Het
Adgrv1	G	A	13: 81,711,685 (GRCm39)	T1097I	probably damaging	Het
Apeh	T	C	9: 107,969,302 (GRCm39)	Y274C	possibly damaging	Het
Apobec3	A	G	15: 79,782,068 (GRCm39)	D26G	possibly damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Asb18	C	T	1: 89,942,104 (GRCm39)	V66I	probably benign	Het
Cacna1i	G	A	15: 80,243,132 (GRCm39)	G430S	probably damaging	Het
Cadps	A	G	14: 12,449,802 (GRCm38)	S1136P	possibly damaging	Het
Cadps	A	G	14: 12,505,796 (GRCm38)	V758A	probably benign	Het
Calhm3	A	G	19: 47,140,539 (GRCm39)	W185R	probably damaging	Het
Car5b	T	C	X: 162,774,369 (GRCm39)	D146G	probably damaging	Het
Card10	G	A	15: 78,664,714 (GRCm39)	R747W	probably damaging	Het
Cd300lg	T	G	11: 101,932,430 (GRCm39)	V5G	probably damaging	Het
Cd46	C	A	1: 194,765,931 (GRCm39)	G145C	probably damaging	Het
Chit1	T	C	1: 134,078,988 (GRCm39)	S433P	probably damaging	Het
Cntrl	G	A	2: 35,008,131 (GRCm39)	E182K	possibly damaging	Het
Col6a5	T	A	9: 105,817,400 (GRCm39)	M304L	unknown	Het
Cplane1	A	G	15: 8,258,077 (GRCm39)	I2108V	probably benign	Het
Cpxm2	C	T	7: 131,745,392 (GRCm39)		probably null	Het
Dbf4	G	A	5: 8,447,375 (GRCm39)	Q612*	probably null	Het
Dnah11	G	C	12: 118,027,587 (GRCm39)	Q1835E	possibly damaging	Het
Ehbp1l1	A	T	19: 5,767,882 (GRCm39)	N1140K	probably benign	Het
Eps8l1	C	A	7: 4,468,359 (GRCm39)		probably benign	Het
Fbxl21	A	T	13: 56,674,876 (GRCm39)	I76L	probably benign	Het
Gcnt2	A	T	13: 41,014,577 (GRCm39)	K249N	possibly damaging	Het
Gm5819	A	G	18: 8,694,179 (GRCm39)	T35A	probably benign	Het
Gm8180	T	C	14: 44,021,139 (GRCm39)	E23G	probably benign	Het
Gorab	A	G	1: 163,231,131 (GRCm39)	F8L	probably damaging	Het
Hlf	A	G	11: 90,231,652 (GRCm39)	L274S	probably damaging	Het
Il15ra	T	A	2: 11,728,247 (GRCm39)	S137T	possibly damaging	Het
Krt78	A	T	15: 101,855,004 (GRCm39)	C936S	possibly damaging	Het
Lamb2	T	C	9: 108,358,583 (GRCm39)	S207P	probably benign	Het
Lce1a1	T	C	3: 92,554,118 (GRCm39)	S119G	unknown	Het
Lipo3	A	G	19: 33,762,092 (GRCm39)	F135S	probably damaging	Het
Lrp4	T	A	2: 91,328,708 (GRCm39)	L1536Q	probably benign	Het
Lrrc25	T	C	8: 71,070,596 (GRCm39)	S126P	possibly damaging	Het
Mbd3l2	T	C	9: 18,356,217 (GRCm39)	S181P	possibly damaging	Het
Msantd5f6	A	T	4: 73,320,037 (GRCm39)	Y247*	probably null	Het
Mss51	C	T	14: 20,534,936 (GRCm39)	R278H	probably damaging	Het
Myom3	G	A	4: 135,505,348 (GRCm39)	M412I	probably benign	Het
Naa25	T	C	5: 121,573,611 (GRCm39)	V780A	probably benign	Het
Naip6	A	T	13: 100,437,067 (GRCm39)	F485L	probably benign	Het
Notch1	T	C	2: 26,359,962 (GRCm39)	Y1251C	probably damaging	Het
Npas3	A	G	12: 54,115,609 (GRCm39)	N826D	probably damaging	Het
Nup155	A	T	15: 8,187,244 (GRCm39)	H1391L	probably damaging	Het
Or2t47	T	C	11: 58,442,849 (GRCm39)	Y72C	probably benign	Het
Or4a74	A	T	2: 89,440,053 (GRCm39)	L131*	probably null	Het
Or4c35	A	T	2: 89,808,754 (GRCm39)	I211F	probably benign	Het
Or5p57	A	C	7: 107,665,932 (GRCm39)	Y24*	probably null	Het
Or6c66	T	C	10: 129,461,217 (GRCm39)	T238A	probably damaging	Het
Or8c8	T	G	9: 38,165,016 (GRCm39)	M101R	probably damaging	Het
Or8s16	G	T	15: 98,211,372 (GRCm39)	Q20K	probably benign	Het
Osbpl6	G	A	2: 76,415,402 (GRCm39)	R588H	probably damaging	Het
Pcdhb17	A	T	18: 37,619,164 (GRCm39)	D318V	probably benign	Het
Pcnx2	T	A	8: 126,545,525 (GRCm39)	E1162V	probably damaging	Het
Pde2a	G	A	7: 101,160,361 (GRCm39)	R845H	probably damaging	Het
Pkhd1	G	T	1: 20,621,244 (GRCm39)	R805S	probably benign	Het
Ppl	T	C	16: 4,905,844 (GRCm39)	K1484E	possibly damaging	Het
Pramel7	T	C	2: 87,321,675 (GRCm39)	E120G	probably benign	Het
Prg4	T	A	1: 150,336,420 (GRCm39)	D60V	probably damaging	Het
Prpf6	T	A	2: 181,249,967 (GRCm39)	D42E	possibly damaging	Het
Rbm5	C	T	9: 107,627,718 (GRCm39)	V408I	possibly damaging	Het
Rsrp1	G	T	4: 134,651,388 (GRCm39)	D51Y	unknown	Het
Sec22a	A	G	16: 35,168,088 (GRCm39)	M141T	probably damaging	Het
Spryd3	A	G	15: 102,026,094 (GRCm39)	S417P	probably benign	Het
Sptbn2	A	G	19: 4,782,713 (GRCm39)	M550V	possibly damaging	Het
Sugt1	C	T	14: 79,846,434 (GRCm39)	T157I	probably damaging	Het
Syne4	T	C	7: 30,016,308 (GRCm39)	V168A	probably benign	Het
Tas2r122	A	T	6: 132,688,065 (GRCm39)	L276*	probably null	Het
Tbc1d14	G	A	5: 36,665,037 (GRCm39)	S231F	probably damaging	Het
Tenm3	T	A	8: 48,729,381 (GRCm39)	I1526F	probably benign	Het
Tgm2	C	T	2: 157,966,139 (GRCm39)	C505Y	probably damaging	Het
Thop1	T	C	10: 80,909,151 (GRCm39)	Y61H	probably damaging	Het
Ticam1	G	A	17: 56,578,436 (GRCm39)	H220Y	probably damaging	Het
Tm6sf2	T	A	8: 70,532,375 (GRCm39)	L345Q	probably damaging	Het
Tnxb	T	C	17: 34,889,848 (GRCm39)	C114R	probably damaging	Het
Topors	G	T	4: 40,262,149 (GRCm39)	C378*	probably null	Het
Ttc6	G	A	12: 57,760,881 (GRCm39)	G1544R	probably benign	Het
Vmn2r4	A	T	3: 64,314,410 (GRCm39)	N190K	probably benign	Het
Wdr70	C	A	15: 7,950,054 (GRCm39)	V447F	probably benign	Het
Xpa	A	G	4: 46,155,730 (GRCm39)		probably benign	Het
Xrcc1	T	C	7: 24,270,000 (GRCm39)	S474P	possibly damaging	Het
Zfp658	T	G	7: 43,223,323 (GRCm39)	F533V	possibly damaging	Het
Zfp799	G	A	17: 33,038,374 (GRCm39)	H631Y	probably damaging	Het

Other mutations in Tle6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Tle6	APN	10	81,430,292 (GRCm39)	missense	probably damaging	1.00
IGL02151:Tle6	APN	10	81,434,474 (GRCm39)	missense	probably benign	0.01
IGL02724:Tle6	APN	10	81,435,898 (GRCm39)	nonsense	probably null
R0420:Tle6	UTSW	10	81,431,145 (GRCm39)	unclassified	probably benign
R0423:Tle6	UTSW	10	81,434,457 (GRCm39)	missense	possibly damaging	0.95
R0589:Tle6	UTSW	10	81,431,253 (GRCm39)	unclassified	probably benign
R0605:Tle6	UTSW	10	81,430,180 (GRCm39)	missense	probably damaging	0.99
R1554:Tle6	UTSW	10	81,431,219 (GRCm39)	missense	probably benign	0.05
R1860:Tle6	UTSW	10	81,430,163 (GRCm39)	missense	probably damaging	1.00
R1952:Tle6	UTSW	10	81,431,319 (GRCm39)	missense	possibly damaging	0.82
R2139:Tle6	UTSW	10	81,429,868 (GRCm39)	missense	probably damaging	0.99
R2337:Tle6	UTSW	10	81,428,490 (GRCm39)	splice site	probably null
R2849:Tle6	UTSW	10	81,430,235 (GRCm39)	missense	probably damaging	1.00
R3158:Tle6	UTSW	10	81,431,038 (GRCm39)	splice site	probably null
R3777:Tle6	UTSW	10	81,431,987 (GRCm39)	missense	probably benign	0.23
R3778:Tle6	UTSW	10	81,431,987 (GRCm39)	missense	probably benign	0.23
R4085:Tle6	UTSW	10	81,430,349 (GRCm39)	splice site	probably null
R5058:Tle6	UTSW	10	81,431,791 (GRCm39)	missense	probably damaging	1.00
R5058:Tle6	UTSW	10	81,430,072 (GRCm39)	missense	possibly damaging	0.93
R5183:Tle6	UTSW	10	81,428,635 (GRCm39)	missense	probably damaging	0.97
R6225:Tle6	UTSW	10	81,428,600 (GRCm39)	missense	probably damaging	1.00
R6331:Tle6	UTSW	10	81,431,073 (GRCm39)	missense	probably benign	0.00
R6514:Tle6	UTSW	10	81,427,810 (GRCm39)	missense	probably damaging	1.00
R6515:Tle6	UTSW	10	81,427,810 (GRCm39)	missense	probably damaging	1.00
R6517:Tle6	UTSW	10	81,427,810 (GRCm39)	missense	probably damaging	1.00
R7145:Tle6	UTSW	10	81,435,910 (GRCm39)	missense	possibly damaging	0.66
R8070:Tle6	UTSW	10	81,434,476 (GRCm39)	missense	possibly damaging	0.79
R8085:Tle6	UTSW	10	81,431,792 (GRCm39)	missense	probably damaging	1.00
R8194:Tle6	UTSW	10	81,426,888 (GRCm39)	missense	probably damaging	0.98
R9066:Tle6	UTSW	10	81,430,212 (GRCm39)	missense	possibly damaging	0.69
R9421:Tle6	UTSW	10	81,429,868 (GRCm39)	missense
R9433:Tle6	UTSW	10	81,426,880 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAATAGCAGGGTCCTCTGAGAG -3'
(R):5'- CCAGTCAGTGAGTCATTGGGTG -3'

Sequencing Primer
(F):5'- AGTGTGCACCCATCCTCAGTG -3'
(R):5'- AGTCATTGGGTGGGCGG -3'

Posted On

2014-06-23