Mutagenetix > Incidental Mutation

Incidental Mutation 'R1967:Tle1'

219031

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

039980-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R1967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72035379-72119156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72038463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 688 (V688E)

Ref Sequence

ENSEMBL: ENSMUSP00000099912 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030095
AA Change: V691E

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

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: V691E

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: V681E

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: V681E

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: V681E

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: V681E

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: V688E

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

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: V688E

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: ENSMUST00000123259

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132550

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	A	C	15: 37,439,842 (GRCm39)		probably benign	Het
Abca6	T	C	11: 110,077,974 (GRCm39)	I1278V	probably benign	Het
Adamts15	C	T	9: 30,832,605 (GRCm39)	W310*	probably null	Het
Adamts6	T	A	13: 104,563,459 (GRCm39)	C650*	probably null	Het
Akap3	G	T	6: 126,842,061 (GRCm39)	G227C	probably benign	Het
Alox12e	A	T	11: 70,208,682 (GRCm39)	S457T	probably benign	Het
Angpt1	C	A	15: 42,301,703 (GRCm39)	C435F	probably damaging	Het
Anxa9	T	C	3: 95,207,919 (GRCm39)	Q207R	probably benign	Het
Aplnr	A	T	2: 84,967,950 (GRCm39)	D325V	probably benign	Het
Art2b	A	C	7: 101,229,414 (GRCm39)	F162V	probably damaging	Het
Atp13a4	A	G	16: 29,298,672 (GRCm39)	S96P	probably damaging	Het
Bnc1	A	T	7: 81,623,384 (GRCm39)	H614Q	probably benign	Het
C6	A	G	15: 4,789,302 (GRCm39)	D249G	probably damaging	Het
Camta1	A	T	4: 151,173,430 (GRCm39)	F977I	probably damaging	Het
Chil6	T	C	3: 106,298,470 (GRCm39)	S188G	possibly damaging	Het
Cntrob	A	T	11: 69,211,789 (GRCm39)	L145Q	probably damaging	Het
Coro7	T	C	16: 4,452,753 (GRCm39)	E306G	probably damaging	Het
Cplane1	T	G	15: 8,232,904 (GRCm39)	V1141G	probably benign	Het
Cpq	T	C	15: 33,497,348 (GRCm39)	S363P	possibly damaging	Het
Ctc1	A	G	11: 68,918,688 (GRCm39)		probably null	Het
Defb43	T	A	14: 63,255,246 (GRCm39)	N26K	probably benign	Het
Dennd1a	T	C	2: 37,734,845 (GRCm39)	T41A	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Eml6	A	G	11: 29,974,545 (GRCm39)	L11P	probably damaging	Het
Epha5	A	G	5: 84,564,288 (GRCm39)	V26A	probably benign	Het
Fam13c	A	G	10: 70,387,565 (GRCm39)	D443G	probably damaging	Het
Fam227a	G	A	15: 79,521,335 (GRCm39)	L243F	possibly damaging	Het
Fat3	T	G	9: 15,879,591 (GRCm39)	R3301S	probably benign	Het
Fbxw20	T	C	9: 109,046,578 (GRCm39)	T461A	probably benign	Het
Fgf8	T	A	19: 45,730,007 (GRCm39)	S61C	probably damaging	Het
Fgfrl1	A	G	5: 108,852,871 (GRCm39)	E100G	probably damaging	Het
Gabra4	G	A	5: 71,729,412 (GRCm39)	S456F	possibly damaging	Het
Gas6	T	C	8: 13,520,317 (GRCm39)	E457G	probably damaging	Het
Gpr33	G	A	12: 52,070,991 (GRCm39)	S16L	probably benign	Het
Greb1l	A	C	18: 10,501,049 (GRCm39)	N393T	possibly damaging	Het
Gtpbp4	T	C	13: 9,027,340 (GRCm39)	K492E	probably benign	Het
Hsf2bp	A	T	17: 32,206,378 (GRCm39)	L251*	probably null	Het
Hyal5	A	T	6: 24,876,193 (GRCm39)	Q22L	possibly damaging	Het
Itih1	A	T	14: 30,663,941 (GRCm39)	V114E	possibly damaging	Het
Jak3	T	A	8: 72,134,179 (GRCm39)	I427N	probably damaging	Het
Jcad	T	C	18: 4,675,162 (GRCm39)	S975P	probably benign	Het
Kcng4	A	G	8: 120,359,662 (GRCm39)	V238A	probably damaging	Het
Klb	A	G	5: 65,529,417 (GRCm39)	D315G	probably damaging	Het
Klrh1	A	T	6: 129,752,798 (GRCm39)	N2K	possibly damaging	Het
Krt5	T	C	15: 101,620,094 (GRCm39)	N208D	probably benign	Het
Lmo7	T	A	14: 102,137,651 (GRCm39)	H551Q	probably benign	Het
Lrp8	G	T	4: 107,717,168 (GRCm39)	G732V	probably damaging	Het
Lrrc38	A	G	4: 143,096,553 (GRCm39)	D288G	unknown	Het
Lrrc4b	GAGAAG	GAG	7: 44,111,654 (GRCm39)		probably benign	Het
Mas1	A	G	17: 13,060,923 (GRCm39)	Y167H	probably benign	Het
Mcm8	A	C	2: 132,684,662 (GRCm39)	I759L	probably benign	Het
Med13l	G	A	5: 118,899,387 (GRCm39)	D2148N	probably damaging	Het
Muc20	A	T	16: 32,614,612 (GRCm39)	I255K	probably benign	Het
Myh1	A	G	11: 67,104,273 (GRCm39)	N980S	probably benign	Het
Nap1l4	T	A	7: 143,088,024 (GRCm39)	Q178L	probably damaging	Het
Ncapg	T	A	5: 45,857,252 (GRCm39)	L988Q	probably damaging	Het
Ncf2	A	T	1: 152,706,123 (GRCm39)	H245L	probably damaging	Het
Neurl4	A	G	11: 69,794,036 (GRCm39)	E164G	possibly damaging	Het
Nf1	G	A	11: 79,303,571 (GRCm39)	R416H	probably damaging	Het
Obscn	G	A	11: 59,026,535 (GRCm39)	Q223*	probably null	Het
Or10q1	T	A	19: 13,727,417 (GRCm39)	*316R	probably null	Het
Or2o1	T	C	11: 49,051,675 (GRCm39)	I278T	probably benign	Het
Pcdhb16	T	A	18: 37,612,715 (GRCm39)	N558K	probably damaging	Het
Pcnx2	A	T	8: 126,542,422 (GRCm39)	M1253K	possibly damaging	Het
Pla2g4a	A	G	1: 149,797,832 (GRCm39)	V22A	probably damaging	Het
Plppr5	G	A	3: 117,419,555 (GRCm39)		probably null	Het
Pnpla2	T	C	7: 141,039,345 (GRCm39)	S353P	probably benign	Het
Pom121	A	T	5: 135,420,608 (GRCm39)	L271Q	unknown	Het
Prepl	A	T	17: 85,395,979 (GRCm39)	M1K	probably null	Het
Prr14l	A	G	5: 33,001,813 (GRCm39)		probably benign	Het
Psmc3	C	A	2: 90,888,189 (GRCm39)	P325T	probably benign	Het
Psme2b	A	G	11: 48,836,896 (GRCm39)	V17A	probably damaging	Het
Ptpro	A	G	6: 137,393,863 (GRCm39)	I23V	probably benign	Het
Rab31	A	G	17: 66,079,499 (GRCm39)		probably null	Het
Ranbp6	T	A	19: 29,789,900 (GRCm39)	K151*	probably null	Het
Rbm12b1	A	T	4: 12,146,304 (GRCm39)	I759L	probably benign	Het
Rgs5	T	C	1: 169,504,425 (GRCm39)	I25T	probably benign	Het
Rnf213	T	C	11: 119,371,721 (GRCm39)	V4842A	probably damaging	Het
Rtl9	A	T	X: 141,886,037 (GRCm39)	I1150F	probably damaging	Het
Scn1a	A	T	2: 66,158,769 (GRCm39)	W384R	probably damaging	Het
Sema5a	C	T	15: 32,681,765 (GRCm39)	P948L	probably damaging	Het
Slc26a3	G	A	12: 31,515,777 (GRCm39)	R559Q	probably damaging	Het
Slc29a3	A	G	10: 60,552,243 (GRCm39)	V267A	probably benign	Het
Spata22	A	G	11: 73,221,953 (GRCm39)		probably benign	Het
Spata31e2	T	A	1: 26,722,454 (GRCm39)	I909L	probably benign	Het
Sptbn2	G	T	19: 4,795,327 (GRCm39)	R1595L	probably benign	Het
Tfdp1	T	C	8: 13,423,039 (GRCm39)	S315P	possibly damaging	Het
Tmem129	A	T	5: 33,812,665 (GRCm39)		probably null	Het
Tmprss11a	G	A	5: 86,579,702 (GRCm39)	T91I	probably benign	Het
Tnfsf14	A	G	17: 57,497,807 (GRCm39)	Y142H	probably damaging	Het
Tph1	T	C	7: 46,311,538 (GRCm39)	D68G	probably benign	Het
Ttn	A	T	2: 76,592,631 (GRCm39)	S12507T	probably damaging	Het
Tubgcp2	T	A	7: 139,586,066 (GRCm39)	M408L	probably benign	Het
Usp34	A	T	11: 23,314,503 (GRCm39)	H815L	probably benign	Het
Usp6nl	G	A	2: 6,446,330 (GRCm39)	R746H	probably benign	Het
Utp20	A	G	10: 88,652,841 (GRCm39)	S358P	probably benign	Het
Vmn2r118	G	A	17: 55,899,882 (GRCm39)	T674I	probably damaging	Het
Vmn2r8	A	T	5: 108,950,249 (GRCm39)	H199Q	probably benign	Het
Vmn2r9	A	G	5: 108,995,388 (GRCm39)	V420A	probably benign	Het
Vmn2r99	A	T	17: 19,599,077 (GRCm39)	T254S	probably benign	Het
Zbed5	A	G	5: 129,930,510 (GRCm39)	H132R	possibly damaging	Het
Zfp568	A	G	7: 29,688,513 (GRCm39)	E25G	probably damaging	Het
Zfp951	T	A	5: 104,964,866 (GRCm39)	I67L	possibly damaging	Het

Other mutations in Tle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tle1	APN	4	72,087,355 (GRCm39)	missense	possibly damaging	0.94
IGL00972:Tle1	APN	4	72,040,637 (GRCm39)	missense	probably damaging	1.00
IGL01548:Tle1	APN	4	72,088,955 (GRCm39)	missense	probably damaging	1.00
IGL01737:Tle1	APN	4	72,116,058 (GRCm39)	splice site	probably benign
IGL01798:Tle1	APN	4	72,055,385 (GRCm39)	missense	probably damaging	1.00
IGL01943:Tle1	APN	4	72,040,639 (GRCm39)	missense	probably damaging	1.00
BB006:Tle1	UTSW	4	72,118,239 (GRCm39)	missense	possibly damaging	0.50
BB016:Tle1	UTSW	4	72,118,239 (GRCm39)	missense	possibly damaging	0.50
PIT4515001:Tle1	UTSW	4	72,117,556 (GRCm39)	missense	possibly damaging	0.47
R0140:Tle1	UTSW	4	72,038,422 (GRCm39)	missense	probably damaging	1.00
R0544:Tle1	UTSW	4	72,043,227 (GRCm39)	missense	probably damaging	1.00
R0603:Tle1	UTSW	4	72,036,584 (GRCm39)	missense	probably damaging	1.00
R0729:Tle1	UTSW	4	72,044,679 (GRCm39)	splice site	probably benign
R0786:Tle1	UTSW	4	72,117,598 (GRCm39)	missense	probably damaging	1.00
R0939:Tle1	UTSW	4	72,036,771 (GRCm39)	missense	probably damaging	1.00
R1297:Tle1	UTSW	4	72,043,075 (GRCm39)	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72,058,068 (GRCm39)	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72,058,068 (GRCm39)	missense	probably damaging	1.00
R1512:Tle1	UTSW	4	72,059,495 (GRCm39)	missense	probably damaging	1.00
R2218:Tle1	UTSW	4	72,117,556 (GRCm39)	missense	possibly damaging	0.47
R3713:Tle1	UTSW	4	72,044,659 (GRCm39)	missense	possibly damaging	0.70
R4367:Tle1	UTSW	4	72,036,400 (GRCm39)	utr 3 prime	probably benign
R4379:Tle1	UTSW	4	72,036,400 (GRCm39)	utr 3 prime	probably benign
R4380:Tle1	UTSW	4	72,036,400 (GRCm39)	utr 3 prime	probably benign
R4655:Tle1	UTSW	4	72,063,581 (GRCm39)	missense	possibly damaging	0.68
R4662:Tle1	UTSW	4	72,055,335 (GRCm39)	missense	possibly damaging	0.92
R4731:Tle1	UTSW	4	72,043,256 (GRCm39)	missense	possibly damaging	0.71
R4732:Tle1	UTSW	4	72,043,256 (GRCm39)	missense	possibly damaging	0.71
R4733:Tle1	UTSW	4	72,043,256 (GRCm39)	missense	possibly damaging	0.71
R4812:Tle1	UTSW	4	72,063,591 (GRCm39)	missense	probably damaging	0.98
R5066:Tle1	UTSW	4	72,076,504 (GRCm39)	missense	probably benign	0.24
R5288:Tle1	UTSW	4	72,060,081 (GRCm39)	missense	probably damaging	1.00
R5386:Tle1	UTSW	4	72,060,081 (GRCm39)	missense	probably damaging	1.00
R5405:Tle1	UTSW	4	72,057,208 (GRCm39)	intron	probably benign
R5579:Tle1	UTSW	4	72,058,045 (GRCm39)	missense	probably damaging	1.00
R5590:Tle1	UTSW	4	72,043,208 (GRCm39)	missense	possibly damaging	0.91
R5762:Tle1	UTSW	4	72,038,372 (GRCm39)	splice site	probably null
R6617:Tle1	UTSW	4	72,059,517 (GRCm39)	missense	probably damaging	0.98
R6750:Tle1	UTSW	4	72,040,687 (GRCm39)	missense	probably damaging	1.00
R7077:Tle1	UTSW	4	72,076,612 (GRCm39)	missense	probably benign	0.25
R7153:Tle1	UTSW	4	72,057,298 (GRCm39)	missense	probably benign	0.03
R7156:Tle1	UTSW	4	72,088,953 (GRCm39)	missense	probably benign	0.15
R7266:Tle1	UTSW	4	72,057,924 (GRCm39)	critical splice donor site	probably null
R7316:Tle1	UTSW	4	72,036,529 (GRCm39)	missense	probably benign	0.01
R7478:Tle1	UTSW	4	72,055,349 (GRCm39)	missense	probably damaging	0.96
R7523:Tle1	UTSW	4	72,063,655 (GRCm39)	missense	possibly damaging	0.94
R7736:Tle1	UTSW	4	72,117,571 (GRCm39)	missense	probably damaging	1.00
R7862:Tle1	UTSW	4	72,117,552 (GRCm39)	missense	probably damaging	1.00
R7863:Tle1	UTSW	4	72,059,529 (GRCm39)	missense	probably null	0.68
R7929:Tle1	UTSW	4	72,118,239 (GRCm39)	missense	possibly damaging	0.50
R8074:Tle1	UTSW	4	72,057,216 (GRCm39)	frame shift	probably null
R8233:Tle1	UTSW	4	72,043,181 (GRCm39)	missense	probably benign	0.11
R8315:Tle1	UTSW	4	72,044,428 (GRCm39)	nonsense	probably null
R8350:Tle1	UTSW	4	72,057,203 (GRCm39)	intron	probably benign
R8494:Tle1	UTSW	4	72,043,241 (GRCm39)	missense	possibly damaging	0.90
R8512:Tle1	UTSW	4	72,040,670 (GRCm39)	missense	possibly damaging	0.64
R8919:Tle1	UTSW	4	72,076,525 (GRCm39)	missense	possibly damaging	0.94
R9171:Tle1	UTSW	4	72,043,232 (GRCm39)	missense	possibly damaging	0.50
R9192:Tle1	UTSW	4	72,036,753 (GRCm39)	missense	probably benign	0.12
R9391:Tle1	UTSW	4	72,116,159 (GRCm39)	missense	probably damaging	1.00
R9452:Tle1	UTSW	4	72,040,596 (GRCm39)	missense	probably benign	0.41
R9481:Tle1	UTSW	4	72,044,504 (GRCm39)	missense	probably damaging	0.96
R9497:Tle1	UTSW	4	72,071,135 (GRCm39)	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- CAATGGAATTATTGCACCCAGCTG -3'
(R):5'- CCTTCCCAGTCTGGATTTGG -3'

Sequencing Primer
(F):5'- AATTATTGCACCCAGCTGCATGG -3'
(R):5'- CCCAGTCTGGATTTGGCAGATTAAAC -3'

Posted On

2014-08-25