Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Tle3'

91412

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tle3

Ensembl Gene

ENSMUSG00000032280

Gene Name

transducin-like enhancer of split 3

Synonyms

2610103N05Rik, ESG, Grg3a, Grg3b

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

61279648-61325779 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61317307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 381 (T381A)

Ref Sequence

ENSEMBL: ENSMUSP00000034820 (fasta)

Gene Model

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

AlphaFold

Q08122

Predicted Effect

probably benign
Transcript: ENSMUST00000034820
AA Change: T381A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
AA Change: T381A

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 benign
Transcript: ENSMUST00000159050
AA Change: T384A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
AA Change: T384A

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 benign
Transcript: ENSMUST00000159386
AA Change: T372A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
AA Change: T372A

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 benign
Transcript: ENSMUST00000159630
AA Change: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
AA Change: T324A

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 benign
Transcript: ENSMUST00000160882
AA Change: T394A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
AA Change: T394A

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 benign
Transcript: ENSMUST00000178113
AA Change: T395A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
AA Change: T395A

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 benign
Transcript: ENSMUST00000161689
AA Change: T328A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
AA Change: T328A

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 benign
Transcript: ENSMUST00000162973
AA Change: T384A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
AA Change: T384A

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

probably benign
Transcript: ENSMUST00000161207
AA Change: T374A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
AA Change: T374A

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 benign
Transcript: ENSMUST00000162127
AA Change: T319A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
AA Change: T319A

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 benign
Transcript: ENSMUST00000162583
AA Change: T381A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
AA Change: T381A

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

noncoding transcript
Transcript: ENSMUST00000162962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162281

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,126,753 (GRCm39)	M329K	possibly damaging	Het
Abce1	G	A	8: 80,420,076 (GRCm39)	T300M	probably damaging	Het
Acap1	G	A	11: 69,772,503 (GRCm39)	S536L	probably damaging	Het
Adcy5	C	A	16: 35,103,883 (GRCm39)		probably benign	Het
Ap2b1	G	T	11: 83,215,437 (GRCm39)	R127L	possibly damaging	Het
Asxl3	T	G	18: 22,649,654 (GRCm39)	S548A	probably benign	Het
Atm	G	A	9: 53,395,547 (GRCm39)		probably benign	Het
Cep250	T	C	2: 155,818,069 (GRCm39)	V807A	probably damaging	Het
Ces1g	T	A	8: 94,033,587 (GRCm39)	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,070,512 (GRCm39)	Y241H	probably benign	Het
Col9a1	T	C	1: 24,224,225 (GRCm39)	S136P	unknown	Het
Cux2	C	A	5: 122,012,170 (GRCm39)	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,589,655 (GRCm39)	M53K	probably benign	Het
Ddx20	T	C	3: 105,593,986 (GRCm39)	D123G	probably damaging	Het
Dock4	T	A	12: 40,860,466 (GRCm39)	L1284*	probably null	Het
Dpp9	A	C	17: 56,518,666 (GRCm39)	L46R	probably benign	Het
Elavl1	A	T	8: 4,351,699 (GRCm39)	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,483,144 (GRCm39)	Y1018C	probably damaging	Het
Fubp1	A	G	3: 151,921,261 (GRCm39)	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,501,755 (GRCm39)		probably benign	Het
Gbx2	C	A	1: 89,856,559 (GRCm39)	R277L	probably damaging	Het
Gm128	T	C	3: 95,148,094 (GRCm39)	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,273,792 (GRCm39)	R469W	probably damaging	Het
Ifi30	G	A	8: 71,217,407 (GRCm39)		probably benign	Het
Kbtbd4	T	C	2: 90,736,252 (GRCm39)	S88P	probably damaging	Het
Kif23	A	T	9: 61,842,750 (GRCm39)	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,540,973 (GRCm39)	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,459,071 (GRCm39)	S161P	probably benign	Het
Lrcol1	T	A	5: 110,502,444 (GRCm39)	S107T	probably benign	Het
Lrrc28	A	T	7: 67,195,223 (GRCm39)		probably null	Het
Ncoa4	T	C	14: 31,894,884 (GRCm39)	V42A	probably benign	Het
Nkd2	C	T	13: 73,969,599 (GRCm39)	S277N	probably benign	Het
Nlrp2	A	T	7: 5,340,769 (GRCm39)	L15Q	probably damaging	Het
Nynrin	T	G	14: 56,107,968 (GRCm39)	L1025R	probably damaging	Het
Or12d12	C	T	17: 37,610,629 (GRCm39)	R228H	probably benign	Het
Or5w1	G	T	2: 87,486,757 (GRCm39)	C169*	probably null	Het
Piwil4	A	T	9: 14,645,783 (GRCm39)	F152I	probably damaging	Het
Plod3	T	C	5: 137,025,002 (GRCm39)	S705P	probably benign	Het
Ppp2r2c	T	A	5: 37,026,166 (GRCm39)	M1K	probably null	Het
Rgs19	T	C	2: 181,331,246 (GRCm39)	E129G	probably damaging	Het
Rpap2	T	A	5: 107,768,061 (GRCm39)	S223T	probably damaging	Het
Shox2	T	C	3: 66,881,104 (GRCm39)		probably benign	Het
Slc30a4	T	C	2: 122,527,137 (GRCm39)	I370V	probably benign	Het
Slco1b2	A	G	6: 141,609,398 (GRCm39)	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,485,793 (GRCm39)	Y142C	probably damaging	Het
Slco3a1	T	C	7: 73,934,198 (GRCm39)	N658S	probably benign	Het
Sos1	A	T	17: 80,741,329 (GRCm39)	S485R	probably benign	Het
Srpk1	A	G	17: 28,825,291 (GRCm39)	L127P	probably damaging	Het
St3gal6	T	A	16: 58,314,033 (GRCm39)		probably benign	Het
Stk4	T	A	2: 163,916,134 (GRCm39)	M1K	probably null	Het
Tbc1d12	A	G	19: 38,871,176 (GRCm39)	E313G	probably benign	Het
Tbk1	A	G	10: 121,393,134 (GRCm39)	I472T	probably benign	Het
Tiam1	G	A	16: 89,586,168 (GRCm39)	R849W	probably damaging	Het
Tmem82	T	G	4: 141,341,954 (GRCm39)	T337P	probably benign	Het
Tmprss15	T	C	16: 78,868,149 (GRCm39)	T220A	probably benign	Het
Ung	A	G	5: 114,275,369 (GRCm39)	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 23,036,571 (GRCm39)	M32K	probably benign	Het
Vps13d	T	G	4: 144,771,658 (GRCm39)	D956A	probably damaging	Het
Wdr64	T	A	1: 175,594,722 (GRCm39)		probably null	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
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
R1921:Tle3	UTSW	9	61,318,622 (GRCm39)	critical splice donor site	probably null
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

Posted On

2013-12-09