Mutagenetix > Incidental Mutation

Incidental Mutation 'R1512:Tle1'

168399

Institutional Source

Beutler Lab

Gene Symbol

Tle1

Ensembl Gene

ENSMUSG00000008305

Gene Name

transducin-like enhancer of split 1

Synonyms

C230057C06Rik, Estm14, Grg1, Tle4l

MMRRC Submission

039559-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R1512 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72117142-72200919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72141258 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 19 (D19G)

Ref Sequence

ENSEMBL: ENSMUSP00000118513 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848] [ENSMUST00000140154]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030095
AA Change: D282G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: D282G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	143	9.1e-77	PFAM
low complexity region	155	183	N/A	INTRINSIC
low complexity region	240	255	N/A	INTRINSIC
low complexity region	265	276	N/A	INTRINSIC
low complexity region	292	314	N/A	INTRINSIC
low complexity region	411	422	N/A	INTRINSIC
WD40	484	521	4.18e-2	SMART
WD40	527	568	1.03e-1	SMART
WD40	573	612	9.38e-5	SMART
WD40	615	654	1.14e-8	SMART
WD40	657	695	3.07e1	SMART
WD40	697	736	8.96e-2	SMART
WD40	737	777	4.14e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072695
AA Change: D272G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	2.6e-78	PFAM
low complexity region	145	173	N/A	INTRINSIC
low complexity region	230	245	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC
low complexity region	401	412	N/A	INTRINSIC
WD40	474	511	4.18e-2	SMART
WD40	517	558	1.03e-1	SMART
WD40	563	602	9.38e-5	SMART
WD40	605	644	1.14e-8	SMART
WD40	647	685	3.07e1	SMART
WD40	687	726	8.96e-2	SMART
WD40	727	767	4.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000074216
AA Change: D272G

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: D272G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	1.3e-78	PFAM
low complexity region	145	173	N/A	INTRINSIC
low complexity region	230	245	N/A	INTRINSIC
low complexity region	255	266	N/A	INTRINSIC
low complexity region	282	304	N/A	INTRINSIC
low complexity region	401	412	N/A	INTRINSIC
WD40	474	511	4.18e-2	SMART
WD40	517	558	1.03e-1	SMART
WD40	563	602	9.38e-5	SMART
WD40	605	644	1.14e-8	SMART
WD40	647	685	3.07e1	SMART
WD40	687	726	8.96e-2	SMART
WD40	727	767	4.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102848
AA Change: D280G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: D280G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	144	1.3e-76	PFAM
low complexity region	153	181	N/A	INTRINSIC
low complexity region	238	253	N/A	INTRINSIC
low complexity region	263	274	N/A	INTRINSIC
low complexity region	290	312	N/A	INTRINSIC
low complexity region	408	419	N/A	INTRINSIC
WD40	481	518	4.18e-2	SMART
WD40	524	565	1.03e-1	SMART
WD40	570	609	9.38e-5	SMART
WD40	612	651	1.14e-8	SMART
WD40	654	692	3.07e1	SMART
WD40	694	733	8.96e-2	SMART
WD40	734	774	4.14e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132550

Predicted Effect

probably damaging
Transcript: ENSMUST00000140154
AA Change: D19G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000118513
Gene: ENSMUSG00000008305
AA Change: D19G

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
low complexity region	29	51	N/A	INTRINSIC

Meta Mutation Damage Score

0.1076

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.0%

Validation Efficiency

95% (79/83)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,195,469	D40E	probably benign	Het
Acsf2	C	T	11: 94,561,398		probably benign	Het
Adamts19	C	T	18: 59,048,845	H1119Y	possibly damaging	Het
Akap6	A	G	12: 52,937,154	D827G	probably damaging	Het
Ankrd33b	T	C	15: 31,367,229	D55G	probably damaging	Het
Ano5	T	A	7: 51,579,568	H569Q	probably benign	Het
Aox2	A	G	1: 58,307,351	D548G	probably benign	Het
Baz2a	A	G	10: 128,124,152	D1433G	possibly damaging	Het
BC031181	T	G	18: 75,008,696	V8G	probably damaging	Het
Bicdl2	A	T	17: 23,668,109	M457L	probably damaging	Het
C130074G19Rik	T	C	1: 184,882,906	D29G	probably damaging	Het
Cd200r1	A	T	16: 44,766,027	T7S	probably benign	Het
Cdc37	A	G	9: 21,142,416		probably benign	Het
Cmtr2	T	C	8: 110,222,635	S526P	probably damaging	Het
Cntn2	G	T	1: 132,523,692	A433D	probably damaging	Het
Cntnap5a	T	C	1: 115,900,950	S35P	probably benign	Het
Csf3r	A	G	4: 126,029,984	T96A	possibly damaging	Het
Ctbs	A	G	3: 146,454,965	N96D	probably benign	Het
Cyp26b1	C	A	6: 84,576,997	V213L	probably benign	Het
Dach1	A	G	14: 97,901,399	L536P	probably damaging	Het
Dcaf6	T	C	1: 165,352,020	Q517R	probably benign	Het
Dnah1	G	T	14: 31,293,037	Q1733K	probably damaging	Het
Dnah17	A	T	11: 118,095,015	I1416N	probably benign	Het
Dock11	G	A	X: 36,020,035	R1102H	probably damaging	Het
Dpp8	T	C	9: 65,063,814		probably benign	Het
Emc1	G	A	4: 139,360,184		probably null	Het
Emc8	A	G	8: 120,658,244	L76P	possibly damaging	Het
Emx2	T	C	19: 59,459,603	Y130H	possibly damaging	Het
Fbf1	C	T	11: 116,147,927	R815Q	probably damaging	Het
Foxb2	G	A	19: 16,872,514	P376L	probably damaging	Het
Gabrb1	C	A	5: 72,108,704	L202I	probably damaging	Het
Gabrb1	T	A	5: 72,108,705	L202Q	probably damaging	Het
Grin2c	T	A	11: 115,253,850	I617F	probably damaging	Het
Gtf2h3	T	A	5: 124,590,870	V164E	probably damaging	Het
Gusb	T	C	5: 130,000,890	Q88R	probably damaging	Het
Hormad2	T	A	11: 4,424,788	K75N	probably damaging	Het
Il33	A	G	19: 29,951,990	T38A	possibly damaging	Het
Ivns1abp	A	T	1: 151,360,936	Q416L	possibly damaging	Het
Ivns1abp	G	C	1: 151,360,937	Q416H	probably benign	Het
Kcnh5	T	A	12: 75,119,937	H178L	probably benign	Het
Kif21b	A	G	1: 136,152,805	N579S	probably benign	Het
Kif26a	G	C	12: 112,146,955	R95P	possibly damaging	Het
Kl	A	G	5: 150,988,597	I604V	probably benign	Het
Klhl24	A	G	16: 20,122,936	K545E	probably damaging	Het
Mcm3ap	A	G	10: 76,470,513	I153M	probably damaging	Het
Meis1	T	G	11: 18,881,682	D452A	probably damaging	Het
Msantd4	C	T	9: 4,384,138	P153L	probably benign	Het
Myot	A	G	18: 44,342,355	E181G	probably damaging	Het
Nf1	T	C	11: 79,390,369	F150S	probably damaging	Het
Nyap2	T	A	1: 81,241,851	S529R	probably damaging	Het
Olfr1145	A	T	2: 87,810,644	T275S	probably benign	Het
Olfr1386	A	G	11: 49,470,459	I103V	probably benign	Het
Olfr923	T	A	9: 38,828,364	Y224*	probably null	Het
Olfr958	T	C	9: 39,550,094	Y259C	probably damaging	Het
Pcnt	C	T	10: 76,404,662		probably null	Het
Pik3c3	T	C	18: 30,322,236		probably null	Het
Pkdcc	A	T	17: 83,220,044	Y217F	possibly damaging	Het
Pnpla6	C	A	8: 3,535,459		probably benign	Het
Polr3gl	T	C	3: 96,580,874	M26V	probably benign	Het
Ppp1r13b	T	C	12: 111,872,408	N12S	possibly damaging	Het
Ppp1r26	G	A	2: 28,451,516	R386K	probably benign	Het
Prdm10	A	G	9: 31,337,401	E355G	probably damaging	Het
Prex2	T	C	1: 11,061,330	F41S	possibly damaging	Het
Prkar1b	G	T	5: 139,050,673	Y231*	probably null	Het
Prkdc	A	T	16: 15,687,404	I857L	probably benign	Het
Psg21	A	T	7: 18,656,500	N10K	probably benign	Het
Rapgef3	A	T	15: 97,757,501	V444E	probably benign	Het
Rnf17	A	T	14: 56,467,786	T716S	probably benign	Het
Rps6ka1	C	T	4: 133,851,004	R577H	probably damaging	Het
Scn1a	A	C	2: 66,331,285	N306K	possibly damaging	Het
Skint6	A	G	4: 113,238,132	I110T	probably damaging	Het
Ssu2	A	G	6: 112,387,998	M1T	probably null	Het
Stag3	A	T	5: 138,297,985	T437S	probably benign	Het
Tal2	A	G	4: 53,786,107	Y96C	probably benign	Het
Thoc3	A	T	13: 54,466,178		probably null	Het
Trpm4	A	G	7: 45,315,044	I690T	probably benign	Het
Trpm6	A	T	19: 18,875,931	M1772L	probably benign	Het
Unc5b	G	A	10: 60,831,475		probably benign	Het
Usf3	G	T	16: 44,221,198	V2014F	probably damaging	Het
Utp18	C	T	11: 93,885,564	A32T	probably benign	Het
Wdfy4	A	G	14: 32,960,808	V2981A	probably damaging	Het
Zfp608	A	G	18: 54,946,666	V349A	probably damaging	Het
Znfx1	A	C	2: 167,056,317	I229S	probably benign	Het

Other mutations in Tle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tle1	APN	4	72169118	missense	possibly damaging	0.94
IGL00972:Tle1	APN	4	72122400	missense	probably damaging	1.00
IGL01548:Tle1	APN	4	72170718	missense	probably damaging	1.00
IGL01737:Tle1	APN	4	72197821	splice site	probably benign
IGL01798:Tle1	APN	4	72137148	missense	probably damaging	1.00
IGL01943:Tle1	APN	4	72122402	missense	probably damaging	1.00
BB006:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
BB016:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
PIT4515001:Tle1	UTSW	4	72199319	missense	possibly damaging	0.47
R0140:Tle1	UTSW	4	72120185	missense	probably damaging	1.00
R0544:Tle1	UTSW	4	72124990	missense	probably damaging	1.00
R0603:Tle1	UTSW	4	72118347	missense	probably damaging	1.00
R0729:Tle1	UTSW	4	72126442	splice site	probably benign
R0786:Tle1	UTSW	4	72199361	missense	probably damaging	1.00
R0939:Tle1	UTSW	4	72118534	missense	probably damaging	1.00
R1297:Tle1	UTSW	4	72124838	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72139831	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72139831	missense	probably damaging	1.00
R1967:Tle1	UTSW	4	72120226	missense	probably damaging	1.00
R2218:Tle1	UTSW	4	72199319	missense	possibly damaging	0.47
R3713:Tle1	UTSW	4	72126422	missense	possibly damaging	0.70
R4367:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4379:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4380:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4655:Tle1	UTSW	4	72145344	missense	possibly damaging	0.68
R4662:Tle1	UTSW	4	72137098	missense	possibly damaging	0.92
R4731:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4732:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4733:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4812:Tle1	UTSW	4	72145354	missense	probably damaging	0.98
R5066:Tle1	UTSW	4	72158267	missense	probably benign	0.24
R5288:Tle1	UTSW	4	72141844	missense	probably damaging	1.00
R5386:Tle1	UTSW	4	72141844	missense	probably damaging	1.00
R5405:Tle1	UTSW	4	72138971	intron	probably benign
R5579:Tle1	UTSW	4	72139808	missense	probably damaging	1.00
R5590:Tle1	UTSW	4	72124971	missense	possibly damaging	0.91
R5762:Tle1	UTSW	4	72120135	splice site	probably null
R6617:Tle1	UTSW	4	72141280	missense	probably damaging	0.98
R6750:Tle1	UTSW	4	72122450	missense	probably damaging	1.00
R7077:Tle1	UTSW	4	72158375	missense	probably benign	0.25
R7153:Tle1	UTSW	4	72139061	missense	probably benign	0.03
R7156:Tle1	UTSW	4	72170716	missense	probably benign	0.15
R7266:Tle1	UTSW	4	72139687	critical splice donor site	probably null
R7316:Tle1	UTSW	4	72118292	missense	probably benign	0.01
R7478:Tle1	UTSW	4	72137112	missense	probably damaging	0.96
R7523:Tle1	UTSW	4	72145418	missense	possibly damaging	0.94
R7736:Tle1	UTSW	4	72199334	missense	probably damaging	1.00
R7862:Tle1	UTSW	4	72199315	missense	probably damaging	1.00
R7863:Tle1	UTSW	4	72141292	missense	probably null	0.68
R7929:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
R8074:Tle1	UTSW	4	72138979	frame shift	probably null
R8233:Tle1	UTSW	4	72124944	missense	probably benign	0.11
R8315:Tle1	UTSW	4	72126191	nonsense	probably null
R8350:Tle1	UTSW	4	72138966	intron	probably benign
R8494:Tle1	UTSW	4	72125004	missense	possibly damaging	0.90
R8512:Tle1	UTSW	4	72122433	missense	possibly damaging	0.64
R8919:Tle1	UTSW	4	72158288	missense	possibly damaging	0.94
R9171:Tle1	UTSW	4	72124995	missense	possibly damaging	0.50
R9192:Tle1	UTSW	4	72118516	missense	probably benign	0.12
R9391:Tle1	UTSW	4	72197922	missense	probably damaging	1.00
R9452:Tle1	UTSW	4	72122359	missense	probably benign	0.41
R9481:Tle1	UTSW	4	72126267	missense	probably damaging	0.96
R9497:Tle1	UTSW	4	72152898	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CCATGTTCCACAAAGGAAATGGCAG -3'
(R):5'- AGAGGATGTTCCTGGGTATTGGTAGAAA -3'

Sequencing Primer
(F):5'- AATGGCAGTGTCACCCAG -3'
(R):5'- CCTGGGTATTGGTAGAAAGATGATTG -3'

Posted On

2014-04-13