Mutagenetix > Incidental Mutation

Incidental Mutation 'R1921:Tle3'

213069

Institutional Source

Beutler Lab

Gene Symbol

Tle3

Ensembl Gene

ENSMUSG00000032280

Gene Name

transducin-like enhancer of split 3

Synonyms

2610103N05Rik, ESG, Grg3a, Grg3b

MMRRC Submission

039939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1921 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61279648-61325779 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 61318622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034820] [ENSMUST00000159050] [ENSMUST00000159386] [ENSMUST00000159630] [ENSMUST00000160724] [ENSMUST00000160882] [ENSMUST00000178113] [ENSMUST00000161207] [ENSMUST00000161689] [ENSMUST00000162127] [ENSMUST00000162583] [ENSMUST00000162973] [ENSMUST00000161993]

AlphaFold

Q08122

Predicted Effect

probably null
Transcript: ENSMUST00000034820

SMART Domains

Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	4.3e-77	PFAM
low complexity region	161	179	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
WD40	468	505	2.96e-2	SMART
WD40	511	552	4.48e-2	SMART
WD40	557	596	2.84e-4	SMART
WD40	599	638	7.55e-9	SMART
WD40	641	679	3.07e1	SMART
WD40	681	720	4.18e-2	SMART
WD40	721	761	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159050

SMART Domains

Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	2.1e-77	PFAM
low complexity region	161	179	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
WD40	471	508	2.96e-2	SMART
WD40	514	555	4.48e-2	SMART
WD40	560	599	2.84e-4	SMART
WD40	602	641	7.55e-9	SMART
WD40	644	682	3.07e1	SMART
WD40	684	723	4.18e-2	SMART
WD40	724	764	1.79e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159140

Predicted Effect

probably null
Transcript: ENSMUST00000159386

SMART Domains

Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	2.1e-77	PFAM
low complexity region	161	179	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
WD40	464	501	2.96e-2	SMART
WD40	507	548	4.48e-2	SMART
WD40	553	592	2.84e-4	SMART
WD40	595	634	7.55e-9	SMART
WD40	637	675	3.07e1	SMART
WD40	677	716	4.18e-2	SMART
WD40	717	757	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159630

SMART Domains

Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	79	1.7e-43	PFAM
low complexity region	104	122	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC
low complexity region	226	245	N/A	INTRINSIC
WD40	416	453	2.96e-2	SMART
WD40	459	500	4.48e-2	SMART
WD40	505	544	2.84e-4	SMART
WD40	547	586	7.55e-9	SMART
WD40	589	627	3.07e1	SMART
WD40	629	668	4.18e-2	SMART
WD40	669	709	1.79e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000160724

SMART Domains

Protein: ENSMUSP00000124055
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	145	1.9e-77	PFAM
low complexity region	170	188	N/A	INTRINSIC
low complexity region	204	216	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000160882

SMART Domains

Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	146	4.8e-76	PFAM
low complexity region	171	189	N/A	INTRINSIC
low complexity region	205	217	N/A	INTRINSIC
low complexity region	293	312	N/A	INTRINSIC
WD40	486	523	2.96e-2	SMART
WD40	529	570	4.48e-2	SMART
WD40	575	614	2.84e-4	SMART
WD40	617	656	7.55e-9	SMART
WD40	659	697	3.07e1	SMART
WD40	699	738	4.18e-2	SMART
WD40	739	779	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000178113

SMART Domains

Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	143	6e-73	PFAM
low complexity region	171	189	N/A	INTRINSIC
low complexity region	204	218	N/A	INTRINSIC
low complexity region	294	313	N/A	INTRINSIC
WD40	487	524	2.96e-2	SMART
WD40	530	571	4.48e-2	SMART
WD40	576	615	2.84e-4	SMART
WD40	618	657	7.55e-9	SMART
WD40	660	698	3.07e1	SMART
WD40	700	739	4.18e-2	SMART
WD40	740	780	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161207

SMART Domains

Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	129	1e-73	PFAM
low complexity region	154	172	N/A	INTRINSIC
low complexity region	188	200	N/A	INTRINSIC
low complexity region	276	295	N/A	INTRINSIC
WD40	466	503	2.96e-2	SMART
WD40	509	550	4.48e-2	SMART
WD40	555	594	2.84e-4	SMART
WD40	597	636	7.55e-9	SMART
WD40	639	677	3.07e1	SMART
WD40	679	718	4.18e-2	SMART
WD40	719	759	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000161689

SMART Domains

Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	80	4.8e-44	PFAM
low complexity region	105	123	N/A	INTRINSIC
low complexity region	139	151	N/A	INTRINSIC
low complexity region	227	246	N/A	INTRINSIC
WD40	420	457	2.96e-2	SMART
WD40	463	504	4.48e-2	SMART
WD40	509	548	2.84e-4	SMART
WD40	551	590	7.55e-9	SMART
WD40	593	631	3.07e1	SMART
WD40	633	672	4.18e-2	SMART
WD40	673	713	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162127

SMART Domains

Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	83	1.2e-37	PFAM
low complexity region	108	126	N/A	INTRINSIC
low complexity region	142	154	N/A	INTRINSIC
low complexity region	230	249	N/A	INTRINSIC
WD40	406	443	2.96e-2	SMART
WD40	449	490	4.48e-2	SMART
WD40	495	534	2.84e-4	SMART
WD40	537	576	7.55e-9	SMART
WD40	579	617	3.07e1	SMART
WD40	619	658	4.18e-2	SMART
WD40	659	699	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162583

SMART Domains

Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	3.9e-77	PFAM
low complexity region	161	179	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
WD40	473	510	2.96e-2	SMART
WD40	516	557	4.48e-2	SMART
WD40	562	601	2.84e-4	SMART
WD40	604	643	7.55e-9	SMART
WD40	646	684	3.07e1	SMART
WD40	686	725	4.18e-2	SMART
WD40	726	766	1.79e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162973

SMART Domains

Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	3.9e-77	PFAM
low complexity region	161	179	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	283	302	N/A	INTRINSIC
WD40	476	513	2.96e-2	SMART
WD40	519	560	4.48e-2	SMART
WD40	565	604	2.84e-4	SMART
WD40	607	646	7.55e-9	SMART
WD40	649	687	3.07e1	SMART
WD40	689	728	4.18e-2	SMART
WD40	729	769	1.79e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162281

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162962

Predicted Effect

probably benign
Transcript: ENSMUST00000161993

SMART Domains

Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	135	2e-77	PFAM
low complexity region	160	178	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
low complexity region	282	301	N/A	INTRINSIC

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional co-repressor protein that belongs to the transducin-like enhancer family of proteins. The members of this family function in the Notch signaling pathway that regulates determination of cell fate during development. Expression of this gene has been associated with a favorable outcome to chemotherapy with taxanes for ovarian carcinoma. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homzoygous for a gene trap allele exhibit embryonic lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Abhd2	T	C	7: 78,998,104 (GRCm39)	I212T	possibly damaging	Het
Adam7	A	C	14: 68,750,074 (GRCm39)	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aox3	T	C	1: 58,219,810 (GRCm39)	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,888,474 (GRCm39)	Y715H	probably damaging	Het
Atrn	A	G	2: 130,836,971 (GRCm39)	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,760,055 (GRCm39)	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859 (GRCm38)	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,372,679 (GRCm39)	E458G	probably damaging	Het
Cptp	C	T	4: 155,950,995 (GRCm39)	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,195,747 (GRCm39)	E318D	possibly damaging	Het
Ddr2	G	T	1: 169,831,814 (GRCm39)	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,226,639 (GRCm39)	Y421C	probably damaging	Het
Dlgap2	A	G	8: 14,893,624 (GRCm39)	K980E	probably benign	Het
Drc7	T	C	8: 95,782,644 (GRCm39)	V3A	unknown	Het
Dst	T	C	1: 34,200,110 (GRCm39)	V96A	probably damaging	Het
Ect2l	T	C	10: 18,018,752 (GRCm39)	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,448,434 (GRCm39)	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,420,086 (GRCm39)		probably benign	Het
Entpd6	A	G	2: 150,600,732 (GRCm39)	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,922,832 (GRCm39)	E189D	probably benign	Het
Fer1l6	T	A	15: 58,497,080 (GRCm39)	S1217T	probably damaging	Het
Frem2	A	T	3: 53,560,916 (GRCm39)	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,811,127 (GRCm39)	L2482*	probably null	Het
Fsip2	A	T	2: 82,817,164 (GRCm39)	D4299V	probably benign	Het
Gipc3	T	A	10: 81,174,049 (GRCm39)	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,256,938 (GRCm39)	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,458,078 (GRCm39)	E205G	probably damaging	Het
Ibtk	A	G	9: 85,585,135 (GRCm39)	S1170P	probably benign	Het
Igfn1	A	G	1: 135,893,801 (GRCm39)		probably null	Het
Iqsec1	A	G	6: 90,639,877 (GRCm39)	S954P	probably benign	Het
Kalrn	A	T	16: 34,212,463 (GRCm39)	D28E	probably benign	Het
Lrmda	T	C	14: 22,627,938 (GRCm39)	F52L	probably damaging	Het
Lrp2	T	C	2: 69,353,631 (GRCm39)	D543G	probably damaging	Het
Lrrtm3	T	C	10: 63,924,157 (GRCm39)	T337A	probably benign	Het
Marf1	C	T	16: 13,946,465 (GRCm39)	D1219N	possibly damaging	Het
Mkln1	A	G	6: 31,405,113 (GRCm39)	K118R	probably benign	Het
Nedd4l	T	C	18: 65,300,646 (GRCm39)		probably null	Het
Neu2	A	G	1: 87,525,023 (GRCm39)	E336G	probably benign	Het
Nfasc	A	G	1: 132,538,543 (GRCm39)	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,165,431 (GRCm39)	E822*	probably null	Het
Nr5a1	T	C	2: 38,584,108 (GRCm39)	Y437C	probably damaging	Het
Or4c119	A	G	2: 88,986,925 (GRCm39)	V198A	probably benign	Het
Or7a37	T	A	10: 78,805,975 (GRCm39)	L164*	probably null	Het
Or8b38	T	C	9: 37,972,981 (GRCm39)	Y122H	probably damaging	Het
Phtf1	C	T	3: 103,876,438 (GRCm39)	Q13*	probably null	Het
Pnldc1	A	G	17: 13,107,815 (GRCm39)	L525P	possibly damaging	Het
Ppl	T	A	16: 4,923,988 (GRCm39)	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,532,079 (GRCm39)	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 45,090,738 (GRCm39)	I340T	probably benign	Het
Recql	T	C	6: 142,311,315 (GRCm39)	I458M	probably benign	Het
Rrbp1	A	T	2: 143,830,211 (GRCm39)	V652E	probably benign	Het
Rtp1	T	A	16: 23,250,160 (GRCm39)	I175N	probably damaging	Het
Ryr1	A	G	7: 28,754,369 (GRCm39)	M3523T	probably damaging	Het
S100a16	T	C	3: 90,449,703 (GRCm39)	L62P	probably damaging	Het
Samd11	T	C	4: 156,333,166 (GRCm39)	E364G	probably damaging	Het
Satb1	C	A	17: 52,049,143 (GRCm39)	G603*	probably null	Het
Shroom3	T	A	5: 93,110,224 (GRCm39)		probably null	Het
Slc25a15	A	G	8: 22,885,777 (GRCm39)	S3P	probably benign	Het
Socs2	A	T	10: 95,248,900 (GRCm39)	L71*	probably null	Het
Sptbn1	T	C	11: 30,054,469 (GRCm39)	E2208G	probably damaging	Het
St14	A	G	9: 31,001,166 (GRCm39)	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191 (GRCm39)	T121S	probably benign	Het
Svs3b	A	T	2: 164,097,848 (GRCm39)	S158T	probably benign	Het
Synpo	C	T	18: 60,736,661 (GRCm39)	M428I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Taar4	A	G	10: 23,837,239 (GRCm39)	D283G	probably damaging	Het
Tango6	T	A	8: 107,415,426 (GRCm39)	D82E	probably benign	Het
Tcof1	T	C	18: 60,971,927 (GRCm39)	T127A	possibly damaging	Het
Tmem45a	A	G	16: 56,642,665 (GRCm39)	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,637,743 (GRCm39)	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,381,389 (GRCm39)		probably null	Het
Tubgcp3	A	T	8: 12,671,932 (GRCm39)	L770*	probably null	Het
Tut1	G	A	19: 8,943,466 (GRCm39)	G851D	probably benign	Het
Ubr1	G	A	2: 120,761,449 (GRCm39)	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,006,530 (GRCm39)	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,831,839 (GRCm39)	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,644,575 (GRCm39)	N70K	probably benign	Het
Vps35l	A	G	7: 118,432,971 (GRCm39)	N568S	probably damaging	Het
Wdr59	A	T	8: 112,213,582 (GRCm39)	L311*	probably null	Het
Wnt2	A	G	6: 18,030,252 (GRCm39)	L12P	unknown	Het
Xrn1	T	C	9: 95,881,550 (GRCm39)	I700T	probably benign	Het
Ypel1	A	G	16: 16,900,443 (GRCm39)	H98R	probably benign	Het
Zfp219	T	C	14: 52,245,691 (GRCm39)	T434A	probably benign	Het
Zik1	A	C	7: 10,223,943 (GRCm39)	C385G	probably damaging	Het

Other mutations in Tle3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Tle3	APN	9	61,316,039 (GRCm39)	splice site	probably benign
IGL00671:Tle3	APN	9	61,319,652 (GRCm39)	missense	probably damaging	1.00
IGL01583:Tle3	APN	9	61,317,307 (GRCm39)	missense	probably benign	0.00
IGL01684:Tle3	APN	9	61,310,728 (GRCm39)	intron	probably benign
IGL02109:Tle3	APN	9	61,320,332 (GRCm39)	missense	probably damaging	1.00
IGL02386:Tle3	APN	9	61,301,941 (GRCm39)	missense	possibly damaging	0.88
IGL02517:Tle3	APN	9	61,322,063 (GRCm39)	missense	probably damaging	1.00
IGL02930:Tle3	APN	9	61,301,981 (GRCm39)	missense	possibly damaging	0.52
IGL03103:Tle3	APN	9	61,300,524 (GRCm39)	missense	possibly damaging	0.46
R0391:Tle3	UTSW	9	61,323,943 (GRCm39)	missense	probably damaging	1.00
R0395:Tle3	UTSW	9	61,317,353 (GRCm39)	missense	probably damaging	0.99
R0621:Tle3	UTSW	9	61,317,387 (GRCm39)	nonsense	probably null
R1836:Tle3	UTSW	9	61,321,305 (GRCm39)	missense	probably damaging	1.00
R1978:Tle3	UTSW	9	61,301,915 (GRCm39)	missense	probably damaging	1.00
R3434:Tle3	UTSW	9	61,321,376 (GRCm39)	splice site	probably null
R4242:Tle3	UTSW	9	61,314,705 (GRCm39)	missense	probably benign
R4587:Tle3	UTSW	9	61,281,295 (GRCm39)	missense	probably damaging	0.99
R4811:Tle3	UTSW	9	61,281,279 (GRCm39)	unclassified	probably benign
R4877:Tle3	UTSW	9	61,280,781 (GRCm39)	intron	probably benign
R4913:Tle3	UTSW	9	61,281,275 (GRCm39)	missense	probably damaging	1.00
R5387:Tle3	UTSW	9	61,314,771 (GRCm39)	splice site	probably null
R5745:Tle3	UTSW	9	61,322,133 (GRCm39)	missense	probably damaging	1.00
R5752:Tle3	UTSW	9	61,314,753 (GRCm39)	missense	probably damaging	1.00
R5917:Tle3	UTSW	9	61,316,190 (GRCm39)	missense	probably benign	0.19
R6000:Tle3	UTSW	9	61,281,296 (GRCm39)	missense	probably damaging	1.00
R6339:Tle3	UTSW	9	61,309,206 (GRCm39)	splice site	probably null
R7210:Tle3	UTSW	9	61,319,587 (GRCm39)	missense	probably damaging	1.00
R7460:Tle3	UTSW	9	61,320,366 (GRCm39)	missense	probably damaging	0.99
R7545:Tle3	UTSW	9	61,301,984 (GRCm39)	missense	possibly damaging	0.62
R7698:Tle3	UTSW	9	61,320,138 (GRCm39)	missense	probably damaging	1.00
R7916:Tle3	UTSW	9	61,314,410 (GRCm39)	missense	probably benign
R8075:Tle3	UTSW	9	61,281,841 (GRCm39)	missense	probably benign	0.05
R8941:Tle3	UTSW	9	61,320,195 (GRCm39)	missense	probably damaging	1.00
R9018:Tle3	UTSW	9	61,319,750 (GRCm39)	missense	probably damaging	1.00
R9060:Tle3	UTSW	9	61,282,821 (GRCm39)	missense	probably damaging	1.00
R9109:Tle3	UTSW	9	61,319,562 (GRCm39)	missense	possibly damaging	0.55
R9122:Tle3	UTSW	9	61,314,755 (GRCm39)	unclassified	probably benign
R9298:Tle3	UTSW	9	61,319,562 (GRCm39)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- GTTCTGGAGAAGTCACAGGGTG -3'
(R):5'- GCCATCAACTTGGACCTCAG -3'

Sequencing Primer
(F):5'- TGCAGCAGGCCTAGAGGAC -3'
(R):5'- TTGGACCTCAGAGTCCCTAAG -3'

Posted On

2014-07-14