Mutagenetix > Incidental Mutation

Incidental Mutation 'R0939:Tle1'

81289

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

039078-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R0939 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72035379-72119156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72036771 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 728 (L728P)

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: L731P

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

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: L731P

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: L721P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: L721P

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: L721P

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

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: L721P

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: L728P

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

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: L728P

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,902,969 (GRCm39)	V419M	probably damaging	Het
Cdcp1	A	G	9: 123,012,755 (GRCm39)	V264A	probably damaging	Het
Cfap53	A	G	18: 74,438,801 (GRCm39)	D326G	probably null	Het
Dach1	A	G	14: 98,153,360 (GRCm39)	V436A	probably damaging	Het
Dnah11	C	T	12: 118,024,142 (GRCm39)	G1870S	probably damaging	Het
Dst	C	A	1: 34,283,464 (GRCm39)	H5324N	probably damaging	Het
Eapp	TTTCTTCTTCTTCTTCTT	TTTCTTCTTCTTCTT	12: 54,732,734 (GRCm39)		probably benign	Het
Esd	C	A	14: 74,973,467 (GRCm39)	H21N	probably damaging	Het
Gnmt	A	G	17: 47,037,271 (GRCm39)	L171P	probably damaging	Het
Igdcc4	T	A	9: 65,038,755 (GRCm39)		probably null	Het
Mug1	A	T	6: 121,861,308 (GRCm39)	I1310F	possibly damaging	Het
Mybpc2	T	C	7: 44,156,311 (GRCm39)	K834R	probably benign	Het
Or10a3b	T	A	7: 108,444,440 (GRCm39)	Y259F	probably damaging	Het
Or10h5	T	C	17: 33,434,635 (GRCm39)	K231E	possibly damaging	Het
Or9g19	T	A	2: 85,600,997 (GRCm39)	L284*	probably null	Het
Pcdh17	A	G	14: 84,685,195 (GRCm39)	D554G	probably damaging	Het
Plcxd3	T	A	15: 4,546,344 (GRCm39)	L116*	probably null	Het
Prss1	A	C	6: 41,440,522 (GRCm39)	D199A	probably damaging	Het
Rbms3	C	T	9: 116,939,028 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,116,207 (GRCm39)	M1189V	probably benign	Het
Slc25a39	T	C	11: 102,295,877 (GRCm39)	E118G	probably damaging	Het
Slfn5	G	T	11: 82,852,164 (GRCm39)	M763I	probably benign	Het
Speer4f2	A	G	5: 17,579,402 (GRCm39)	E67G	probably damaging	Het
Spef2	A	T	15: 9,704,636 (GRCm39)		probably null	Het
Spocd1	A	T	4: 129,842,663 (GRCm39)	D26V	possibly damaging	Het
Ssh1	A	G	5: 114,108,497 (GRCm39)	L50P	probably damaging	Het
Trio	A	G	15: 27,741,336 (GRCm39)		probably null	Het
Tubb1	G	A	2: 174,297,549 (GRCm39)	E53K	probably damaging	Het
Vmn2r71	A	T	7: 85,272,889 (GRCm39)	T568S	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
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
R1967:Tle1	UTSW	4	72,038,463 (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'- TTGTCCCCTGAGCCAGTGACTATG -3'
(R):5'- GGCGCAGGAAAGGAACACCTTTAC -3'

Sequencing Primer
(F):5'- CCTGAGCCAGTGACTATGTATTTATC -3'
(R):5'- AGGAACACCTTTACAGAGCTG -3'

Posted On

2013-11-07