Mutagenetix > Incidental Mutation

Incidental Mutation 'R1297:Tle1'

158172

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

039363-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

R1297 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

72035379-72119156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72043075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 598 (V598A)

Ref Sequence

ENSEMBL: ENSMUSP00000030095 (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: V598A

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

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: V598A

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: V588A

PolyPhen 2 Score 0.610 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: V588A

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

possibly damaging
Transcript: ENSMUST00000074216
AA Change: V588A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: V588A

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: V595A

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

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: V595A

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

Meta Mutation Damage Score

0.6351

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	A	G	11: 5,820,834 (GRCm39)	N542D	possibly damaging	Het
Ap2b1	T	A	11: 83,223,935 (GRCm39)	W217R	probably damaging	Het
Cep290	T	A	10: 100,374,962 (GRCm39)		probably benign	Het
Col27a1	G	A	4: 63,183,868 (GRCm39)		probably benign	Het
Cyp2d12	A	T	15: 82,441,887 (GRCm39)	H109L	probably benign	Het
Dnah17	T	C	11: 118,012,192 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,352,709 (GRCm39)	A867T	probably benign	Het
Gstt4	T	A	10: 75,653,133 (GRCm39)	N143I	possibly damaging	Het
Hdac2	G	A	10: 36,862,370 (GRCm39)	R78Q	possibly damaging	Het
Itsn2	T	C	12: 4,750,378 (GRCm39)	I1241T	probably damaging	Het
Kalrn	T	C	16: 33,836,868 (GRCm39)	K2249R	probably damaging	Het
Klrg1	T	A	6: 122,250,538 (GRCm39)	I138F	probably benign	Het
Mast1	A	G	8: 85,639,345 (GRCm39)	V1328A	probably benign	Het
Mettl25	T	C	10: 105,659,126 (GRCm39)	S386G	probably benign	Het
Nme2	A	T	11: 93,842,782 (GRCm39)	N210K	possibly damaging	Het
Pgap1	T	C	1: 54,567,682 (GRCm39)	S388G	possibly damaging	Het
Pgk2	C	A	17: 40,519,255 (GRCm39)	V58L	probably benign	Het
Phf11	A	T	14: 59,495,996 (GRCm39)	H39Q	probably benign	Het
Pou6f1	T	A	15: 100,476,186 (GRCm39)	T292S	probably damaging	Het
Rbm5	G	A	9: 107,621,441 (GRCm39)	R15C	probably damaging	Het
Rnf215	T	C	11: 4,089,806 (GRCm39)	V273A	possibly damaging	Het
Rras	A	G	7: 44,670,003 (GRCm39)	D145G	probably damaging	Het
Safb2	T	C	17: 56,891,265 (GRCm39)		probably benign	Het
Setdb1	A	T	3: 95,257,187 (GRCm39)		probably benign	Het
Sp5	A	G	2: 70,306,873 (GRCm39)	D186G	probably benign	Het
Thada	A	G	17: 84,559,863 (GRCm39)		probably benign	Het
Tnrc6c	A	G	11: 117,624,529 (GRCm39)	N947S	possibly damaging	Het
Tnxb	T	C	17: 34,929,140 (GRCm39)	S2728P	probably damaging	Het
Vmn1r13	A	G	6: 57,187,392 (GRCm39)	R184G	probably damaging	Het
Wdr24	C	T	17: 26,046,322 (GRCm39)	T522I	possibly damaging	Het
Zfyve16	A	G	13: 92,658,840 (GRCm39)	V357A	probably benign	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
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'- TGCCATCTCAGTGTGGACGAAAG -3'
(R):5'- GGAATTCAGCTTAGCAGCCCTGTG -3'

Sequencing Primer
(F):5'- AGGTCTTGGTGACCCTCTG -3'
(R):5'- AATGGCAGTTGAACCCTGGTC -3'

Posted On

2014-02-18