Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00972:Tle1'

27336

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 #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

72035379-72119156 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 72040637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 648 (R648G)

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: R651G

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

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: R651G

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: R641G

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: R641G

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: R641G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: R641G

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: R648G

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

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: R648G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,484 (GRCm39)	F23L	probably damaging	Het
Abcf3	A	T	16: 20,370,434 (GRCm39)	M320L	probably damaging	Het
Adam4	A	T	12: 81,467,423 (GRCm39)	H399Q	probably damaging	Het
Ank1	A	G	8: 23,631,660 (GRCm39)	K140E	probably damaging	Het
Atg2a	G	A	19: 6,304,629 (GRCm39)	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 98,850,906 (GRCm39)	I34N	probably damaging	Het
Bin1	A	T	18: 32,557,887 (GRCm39)	E260V	probably benign	Het
Birc2	G	A	9: 7,833,716 (GRCm39)	S255L	probably benign	Het
Cdc42bpa	A	G	1: 179,902,249 (GRCm39)	Q502R	probably benign	Het
Cep170	A	G	1: 176,563,262 (GRCm39)	V1584A	probably benign	Het
Commd3	A	T	2: 18,679,476 (GRCm39)	R120S	probably benign	Het
Cyp39a1	A	T	17: 44,012,434 (GRCm39)	I304L	probably benign	Het
Cyp3a44	A	T	5: 145,716,534 (GRCm39)	M352K	possibly damaging	Het
Dna2	T	C	10: 62,786,602 (GRCm39)	Y117H	probably benign	Het
Dnah6	A	G	6: 73,060,140 (GRCm39)		probably benign	Het
Dsc1	G	A	18: 20,221,420 (GRCm39)	P685L	probably benign	Het
Efna5	T	A	17: 62,920,374 (GRCm39)	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,827,365 (GRCm39)	F96S	probably benign	Het
Fig4	A	T	10: 41,127,784 (GRCm39)	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992 (GRCm39)	I210N	probably damaging	Het
Fmnl1	T	C	11: 103,071,781 (GRCm39)	V96A	probably damaging	Het
Gabra1	T	G	11: 42,024,453 (GRCm39)	E407D	probably benign	Het
Gm5277	A	T	3: 78,799,593 (GRCm39)		noncoding transcript	Het
H2-M10.5	A	T	17: 37,084,227 (GRCm39)	E63V	possibly damaging	Het
Icam5	T	A	9: 20,945,993 (GRCm39)	V275E	probably damaging	Het
Kel	G	A	6: 41,665,000 (GRCm39)	A588V	possibly damaging	Het
Klra5	T	A	6: 129,883,568 (GRCm39)	E96D	probably damaging	Het
Limd1	C	T	9: 123,309,141 (GRCm39)	T280I	probably benign	Het
Mul1	C	A	4: 138,165,628 (GRCm39)	S95*	probably null	Het
Nlrp4a	T	C	7: 26,156,473 (GRCm39)	S733P	probably benign	Het
Ntn1	T	A	11: 68,104,098 (GRCm39)	I517F	possibly damaging	Het
Ntrk3	T	A	7: 77,897,070 (GRCm39)	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,858,572 (GRCm39)	L226R	possibly damaging	Het
Or1ad6	A	T	11: 50,859,946 (GRCm39)	M34L	probably benign	Het
Or4f61	A	T	2: 111,922,439 (GRCm39)	N202K	probably damaging	Het
Or5ac17	A	G	16: 59,036,829 (GRCm39)	I49T	probably damaging	Het
Pibf1	T	A	14: 99,416,885 (GRCm39)	L486*	probably null	Het
Pla2g4c	A	G	7: 13,074,583 (GRCm39)	Y253C	probably benign	Het
Rims3	C	A	4: 120,748,583 (GRCm39)	A268E	probably benign	Het
Rpl12	T	C	2: 32,853,759 (GRCm39)	I129T	probably benign	Het
Rsl1	A	T	13: 67,329,862 (GRCm39)	K103N	probably benign	Het
Scn11a	A	T	9: 119,623,004 (GRCm39)	W612R	probably benign	Het
Sdk2	G	A	11: 113,745,210 (GRCm39)	T695M	possibly damaging	Het
Slc17a1	T	A	13: 24,062,437 (GRCm39)		probably benign	Het
Stam	A	T	2: 14,120,779 (GRCm39)		probably benign	Het
Tacr3	T	G	3: 134,638,116 (GRCm39)	N424K	probably benign	Het
Tas1r2	C	T	4: 139,387,347 (GRCm39)	R240W	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trip11	T	C	12: 101,860,596 (GRCm39)	I250V	probably null	Het
Tspan8	C	T	10: 115,680,044 (GRCm39)		probably benign	Het
Vmn1r128	A	G	7: 21,084,001 (GRCm39)	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,368,558 (GRCm39)	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,996,903 (GRCm39)	E122G	probably benign	Het
Zfp27	A	T	7: 29,594,383 (GRCm39)	N527K	probably 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
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
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

2013-04-17