Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01548:Tle1'

93175

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tle1

Ensembl Gene

ENSMUSG00000008305

Gene Name

transducin-like enhancer of split 1

Synonyms

C230057C06Rik, Estm14, Grg1, Tle4l

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.628) question?

Stock #

IGL01548

Quality Score

Status

Chromosome

Chromosomal Location

72117142-72200919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72170718 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 96 (L96P)

Ref Sequence

ENSEMBL: ENSMUSP00000102960 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030095] [ENSMUST00000072695] [ENSMUST00000074216] [ENSMUST00000102848] [ENSMUST00000107337] [ENSMUST00000137075]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030095
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: L96P

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

probably damaging
Transcript: ENSMUST00000072695
AA Change: L96P

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

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: L96P

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 damaging
Transcript: ENSMUST00000074216
AA Change: L96P

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

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: L96P

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 damaging
Transcript: ENSMUST00000102848
AA Change: L104P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: L104P

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

probably damaging
Transcript: ENSMUST00000107337
AA Change: L96P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102960
Gene: ENSMUSG00000008305
AA Change: L96P

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	136	7.2e-80	PFAM
low complexity region	145	173	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134225

Predicted Effect

probably damaging
Transcript: ENSMUST00000137075
AA Change: L118P

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

SMART Domains

Protein: ENSMUSP00000118683
Gene: ENSMUSG00000008305
AA Change: L118P

Domain	Start	End	E-Value	Type
low complexity region	5	17	N/A	INTRINSIC
Pfam:TLE_N	22	158	4.2e-77	PFAM
low complexity region	167	195	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142137

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,814,259	N110D	probably damaging	Het
Acot3	C	T	12: 84,057,089	T224I	probably benign	Het
Adamts18	C	T	8: 113,764,299	G512E	probably damaging	Het
Atp4b	A	G	8: 13,389,679	I181T	probably damaging	Het
Bcl11a	A	G	11: 24,163,346	I230V	probably benign	Het
Cenpj	C	A	14: 56,532,319	V1138L	probably benign	Het
Cep78	A	G	19: 15,981,200		probably benign	Het
Clec2j	T	A	6: 128,655,978		noncoding transcript	Het
Col5a3	T	C	9: 20,803,000		probably benign	Het
Cpne6	A	T	14: 55,512,726	T105S	probably damaging	Het
Csmd1	A	T	8: 16,288,646	Y482*	probably null	Het
Ctrl	C	A	8: 105,933,258		probably benign	Het
Dhcr24	T	A	4: 106,573,871	C252*	probably null	Het
Dnah17	G	A	11: 118,098,612	P1261S	probably benign	Het
Dnaic2	T	C	11: 114,752,942	L466P	probably damaging	Het
Dync2h1	A	T	9: 7,071,922	F3036Y	probably damaging	Het
Eef1akmt2	A	C	7: 132,831,405	S191A	probably damaging	Het
Fam205c	T	C	4: 42,868,564	E353G	probably benign	Het
Fat4	G	A	3: 39,009,257	C4454Y	probably damaging	Het
Fat4	T	C	3: 38,887,758	S267P	probably damaging	Het
Frrs1	T	C	3: 116,885,185	C219R	probably damaging	Het
Gabra6	T	A	11: 42,317,023	Q207L	probably damaging	Het
Gm19668	A	T	10: 77,798,408	C242*	probably null	Het
Gm2840	G	A	5: 96,174,277		noncoding transcript	Het
Gm6614	A	G	6: 141,992,512	I227T	possibly damaging	Het
Gm8765	A	G	13: 50,700,378	T91A	probably benign	Het
Gmcl1p1	G	A	X: 3,078,226	G423S	probably benign	Het
Golim4	C	T	3: 75,908,125		probably null	Het
Gucy1b1	G	T	3: 82,034,862	T530K	probably damaging	Het
Hacl1	A	T	14: 31,640,596	D31E	possibly damaging	Het
Hectd4	A	G	5: 121,364,660	T4276A	possibly damaging	Het
Henmt1	T	C	3: 108,942,779	I26T	probably damaging	Het
Hspa1l	G	A	17: 34,978,391	A469T	probably damaging	Het
Htra3	T	A	5: 35,664,076		probably null	Het
Lrrc28	C	A	7: 67,628,294		probably null	Het
Mfhas1	T	C	8: 35,590,459	L696P	probably damaging	Het
Mios	A	G	6: 8,234,252	K808E	possibly damaging	Het
Mtnr1b	A	G	9: 15,863,200	Y188H	probably damaging	Het
Myom1	A	G	17: 71,101,220		probably benign	Het
Naca	A	T	10: 128,040,904		probably benign	Het
Nckap1l	T	A	15: 103,462,720	V213D	probably benign	Het
Ndufa6	C	T	15: 82,354,081	V50M	possibly damaging	Het
Olfr1000	A	G	2: 85,608,761	W50R	probably benign	Het
Olfr1055	T	A	2: 86,347,733	Y11F	possibly damaging	Het
Olfr1260	T	A	2: 89,978,539	F254I	possibly damaging	Het
Olfr1465	A	G	19: 13,313,986	F100L	possibly damaging	Het
Olfr923	A	G	9: 38,828,350	T220A	probably benign	Het
Osbpl1a	T	C	18: 12,763,575	Y311C	probably damaging	Het
Parp11	A	C	6: 127,491,599	Y204S	probably damaging	Het
Pla2g4a	A	G	1: 149,932,656		probably null	Het
Plec	T	C	15: 76,189,258	R519G	probably benign	Het
Ppp2r5c	T	A	12: 110,567,827	Y375N	probably benign	Het
Prss35	C	A	9: 86,755,274	S32R	probably benign	Het
Prss57	C	T	10: 79,785,747		probably benign	Het
Ptprc	A	C	1: 138,099,481		probably null	Het
Rims1	A	G	1: 22,538,602	C188R	probably damaging	Het
Ripk4	G	T	16: 97,751,496	Y144*	probably null	Het
Rpgrip1	A	T	14: 52,126,271		probably benign	Het
Rps6ka4	A	G	19: 6,832,323	V378A	probably benign	Het
Rtf1	A	G	2: 119,712,108	K298E	probably benign	Het
Sdk1	T	C	5: 142,085,765	F1237L	possibly damaging	Het
Slc40a1	T	C	1: 45,909,492	K543E	probably benign	Het
Sorcs3	A	T	19: 48,794,168	I1041F	possibly damaging	Het
Taok3	T	C	5: 117,272,197	M818T	probably benign	Het
Tas2r119	T	A	15: 32,177,977	F230I	probably damaging	Het
Tbc1d8	T	C	1: 39,381,304	D716G	probably damaging	Het
Tfg	A	G	16: 56,701,102	S58P	probably damaging	Het
Thnsl1	A	G	2: 21,213,132	I45V	probably damaging	Het
Tmem260	A	C	14: 48,480,325	S276R	possibly damaging	Het
Utp20	A	G	10: 88,764,781	S24P	probably damaging	Het
Vcam1	T	C	3: 116,115,951	I576V	probably benign	Het
Vmn1r27	G	T	6: 58,215,553	N105K	probably benign	Het
Vmn2r12	A	C	5: 109,093,027	Y73*	probably null	Het
Vmn2r86	T	C	10: 130,446,282	I822V	probably benign	Het
Wdr6	C	T	9: 108,574,897	V596I	possibly damaging	Het
Zfp946	A	T	17: 22,454,662	K132N	possibly damaging	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
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
R1512:Tle1	UTSW	4	72141258	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

Posted On

2013-12-09