Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01798:Tle1'

155430

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

Essential gene?

Possibly essential (E-score: 0.575) question?

Stock #

IGL01798

Quality Score

Status

Chromosome

Chromosomal Location

72035379-72119156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72055385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 432 (D432G)

Ref Sequence

ENSEMBL: ENSMUSP00000030095 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000030095
AA Change: D432G

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

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: D432G

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: D422G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: D422G

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: D422G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: D422G

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: D429G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: D429G

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 benign
Transcript: ENSMUST00000140154

SMART Domains

Protein: ENSMUSP00000118513
Gene: ENSMUSG00000008305

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,163,921 (GRCm39)	I818V	probably benign	Het
Adam22	A	C	5: 8,282,604 (GRCm39)		probably null	Het
Afap1	T	A	5: 36,093,026 (GRCm39)		probably null	Het
Aunip	G	T	4: 134,250,722 (GRCm39)	K222N	possibly damaging	Het
Ccnt1	A	G	15: 98,442,122 (GRCm39)	V382A	probably benign	Het
Clip1	T	C	5: 123,721,612 (GRCm39)	D1123G	probably damaging	Het
Cxcr1	T	A	1: 74,231,759 (GRCm39)	I88F	possibly damaging	Het
Duox2	A	C	2: 122,112,389 (GRCm39)	Y1266D	probably damaging	Het
Elk4	T	A	1: 131,945,592 (GRCm39)	S157T	possibly damaging	Het
Erc1	T	C	6: 119,597,298 (GRCm39)	T1004A	possibly damaging	Het
Fah	T	C	7: 84,238,837 (GRCm39)	N336S	probably benign	Het
Glg1	A	T	8: 111,919,332 (GRCm39)	S253T	possibly damaging	Het
Gm10377	A	T	14: 42,614,864 (GRCm39)	I167K	probably benign	Het
Hipk1	A	T	3: 103,668,875 (GRCm39)	I507N	probably damaging	Het
Hnf1a	T	C	5: 115,091,732 (GRCm39)	E357G	probably damaging	Het
Ighv1-22	A	T	12: 114,710,298 (GRCm39)	L10H	probably damaging	Het
Igkv6-23	A	G	6: 70,237,574 (GRCm39)	Y56H	probably damaging	Het
Lyrm9	A	G	11: 78,728,955 (GRCm39)	I56V	probably damaging	Het
Ncam1	G	T	9: 49,419,907 (GRCm39)	T804K	probably damaging	Het
Nfu1	T	A	6: 86,992,605 (GRCm39)	I73K	probably damaging	Het
Ruvbl2	A	G	7: 45,071,587 (GRCm39)	L432P	probably damaging	Het
Tcf3	T	C	10: 80,249,043 (GRCm39)	T527A	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
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
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

Posted On

2014-02-04