Mutagenetix > Incidental Mutations

Incidental Mutation 'R1978:Tle3'

222020

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

039991-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1978 (G1)

Quality Score

203

Status

Not validated

Chromosome

Chromosomal Location

61372366-61418497 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61394633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 108 (V108E)

Ref Sequence

ENSEMBL: ENSMUSP00000125032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034820] [ENSMUST00000159050] [ENSMUST00000159386] [ENSMUST00000159630] [ENSMUST00000160541] [ENSMUST00000160724] [ENSMUST00000160882] [ENSMUST00000161194] [ENSMUST00000161207] [ENSMUST00000161689] [ENSMUST00000161993] [ENSMUST00000162127] [ENSMUST00000162583] [ENSMUST00000178113] [ENSMUST00000162973]

AlphaFold

Q08122

Predicted Effect

probably damaging
Transcript: ENSMUST00000034820
AA Change: V108E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034820
Gene: ENSMUSG00000032280
AA Change: V108E

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 damaging
Transcript: ENSMUST00000159050
AA Change: V108E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125032
Gene: ENSMUSG00000032280
AA Change: V108E

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

probably damaging
Transcript: ENSMUST00000159386
AA Change: V108E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125049
Gene: ENSMUSG00000032280
AA Change: V108E

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 damaging
Transcript: ENSMUST00000159630
AA Change: V52E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123723
Gene: ENSMUSG00000032280
AA Change: V52E

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 damaging
Transcript: ENSMUST00000160541
AA Change: V52E

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000124158
Gene: ENSMUSG00000032280
AA Change: V52E

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	80	3.7e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000160724
AA Change: V108E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124055
Gene: ENSMUSG00000032280
AA Change: V108E

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

possibly damaging
Transcript: ENSMUST00000160882
AA Change: V108E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124131
Gene: ENSMUSG00000032280
AA Change: V108E

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

unknown
Transcript: ENSMUST00000161194
AA Change: V52E

SMART Domains

Protein: ENSMUSP00000125537
Gene: ENSMUSG00000032280
AA Change: V52E

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	53	7.3e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000161207
AA Change: V101E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124557
Gene: ENSMUSG00000032280
AA Change: V101E

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 damaging
Transcript: ENSMUST00000161689
AA Change: V52E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125011
Gene: ENSMUSG00000032280
AA Change: V52E

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 damaging
Transcript: ENSMUST00000161993
AA Change: V108E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124432
Gene: ENSMUSG00000032280
AA Change: V108E

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162127
AA Change: V45E

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000124150
Gene: ENSMUSG00000032280
AA Change: V45E

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

possibly damaging
Transcript: ENSMUST00000162583
AA Change: V108E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124977
Gene: ENSMUSG00000032280
AA Change: V108E

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 damaging
Transcript: ENSMUST00000178113
AA Change: V108E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136010
Gene: ENSMUSG00000032280
AA Change: V108E

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

possibly damaging
Transcript: ENSMUST00000162973
AA Change: V108E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124173
Gene: ENSMUSG00000032280
AA Change: V108E

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
2810474O19Rik	T	A	6: 149,326,432	N325K	probably benign	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	probably damaging	Het

Other mutations in Tle3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00494:Tle3	APN	9	61408757	splice site	probably benign
IGL00671:Tle3	APN	9	61412370	missense	probably damaging	1.00
IGL01583:Tle3	APN	9	61410025	missense	probably benign	0.00
IGL01684:Tle3	APN	9	61403446	intron	probably benign
IGL02109:Tle3	APN	9	61413050	missense	probably damaging	1.00
IGL02386:Tle3	APN	9	61394659	missense	possibly damaging	0.88
IGL02517:Tle3	APN	9	61414781	missense	probably damaging	1.00
IGL02930:Tle3	APN	9	61394699	missense	possibly damaging	0.52
IGL03103:Tle3	APN	9	61393242	missense	possibly damaging	0.46
R0391:Tle3	UTSW	9	61416661	missense	probably damaging	1.00
R0395:Tle3	UTSW	9	61410071	missense	probably damaging	0.99
R0621:Tle3	UTSW	9	61410105	nonsense	probably null
R1836:Tle3	UTSW	9	61414023	missense	probably damaging	1.00
R1921:Tle3	UTSW	9	61411340	critical splice donor site	probably null
R3434:Tle3	UTSW	9	61414094	splice site	probably null
R4242:Tle3	UTSW	9	61407423	missense	probably benign
R4587:Tle3	UTSW	9	61374013	missense	probably damaging	0.99
R4811:Tle3	UTSW	9	61373997	unclassified	probably benign
R4877:Tle3	UTSW	9	61373499	intron	probably benign
R4913:Tle3	UTSW	9	61373993	missense	probably damaging	1.00
R5387:Tle3	UTSW	9	61407489	splice site	probably null
R5745:Tle3	UTSW	9	61414851	missense	probably damaging	1.00
R5752:Tle3	UTSW	9	61407471	missense	probably damaging	1.00
R5917:Tle3	UTSW	9	61408908	missense	probably benign	0.19
R6000:Tle3	UTSW	9	61374014	missense	probably damaging	1.00
R6339:Tle3	UTSW	9	61401924	splice site	probably null
R7210:Tle3	UTSW	9	61412305	missense	probably damaging	1.00
R7460:Tle3	UTSW	9	61413084	missense	probably damaging	0.99
R7545:Tle3	UTSW	9	61394702	missense	possibly damaging	0.62
R7698:Tle3	UTSW	9	61412856	missense	probably damaging	1.00
R7916:Tle3	UTSW	9	61407128	missense	probably benign
R8075:Tle3	UTSW	9	61374559	missense	probably benign	0.05
R8941:Tle3	UTSW	9	61412913	missense	probably damaging	1.00
R9018:Tle3	UTSW	9	61412468	missense	probably damaging	1.00
R9060:Tle3	UTSW	9	61375539	missense	probably damaging	1.00
R9109:Tle3	UTSW	9	61412280	missense	possibly damaging	0.55
R9298:Tle3	UTSW	9	61412280	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TGCTCGTTTAAAGACTGATAGAGAG -3'
(R):5'- AATCTAAGCCCTCGGTTGCC -3'

Sequencing Primer
(F):5'- GAGTGTGGCATCACTAAACAC -3'
(R):5'- TGCCTAGGGATGCCATGG -3'

Posted On

2014-08-25