Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Tle1'

714317

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72117142-72200919 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72122359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 654 (H654Q)

Ref Sequence

ENSEMBL: ENSMUSP00000072481 (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: H664Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000030095
Gene: ENSMUSG00000008305
AA Change: H664Q

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 benign
Transcript: ENSMUST00000072695
AA Change: H654Q

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000072481
Gene: ENSMUSG00000008305
AA Change: H654Q

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: H654Q

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000073839
Gene: ENSMUSG00000008305
AA Change: H654Q

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: H661Q

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

SMART Domains

Protein: ENSMUSP00000099912
Gene: ENSMUSG00000008305
AA Change: H661Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,407,384	Y564C	probably null	Het
Ablim2	A	T	5: 35,857,854	D470V	probably benign	Het
Actr10	T	C	12: 70,960,044		probably null	Het
Adam4	T	A	12: 81,420,297	I517L	probably benign	Het
Ank1	C	A	8: 23,132,413	D1659E	probably benign	Het
Arnt2	A	G	7: 84,284,126	V308A	probably benign	Het
Avl9	T	C	6: 56,729,741	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733	I157N	probably benign	Het
BC005561	T	A	5: 104,521,744	N1377K	probably benign	Het
Bicc1	A	T	10: 70,957,151	D224E	probably damaging	Het
C2	T	G	17: 34,876,343	I209L	probably benign	Het
Cacna1e	A	T	1: 154,413,974		probably null	Het
Capn1	T	C	19: 6,007,257	Y387C	probably damaging	Het
Cebpa	A	G	7: 35,119,608	I64V	possibly damaging	Het
Celf4	T	G	18: 25,491,162	M436L	probably benign	Het
Cfb	C	A	17: 34,859,108	V436L	probably benign	Het
Ciart	C	T	3: 95,881,215	C104Y	probably benign	Het
Cmya5	A	G	13: 93,095,886	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,699,389	M388K	possibly damaging	Het
Cypt12	T	C	3: 17,948,679	V72A	probably benign	Het
Dlec1	A	G	9: 119,112,473	D309G	probably benign	Het
Dnah1	A	G	14: 31,296,491	V1394A	probably benign	Het
Dpp3	A	C	19: 4,923,722	S108A	probably benign	Het
Eif5b	C	T	1: 38,045,780	P903S	probably damaging	Het
Erc2	A	G	14: 28,011,733	D580G	probably damaging	Het
Fam98c	A	G	7: 29,153,476	V44A	probably benign	Het
Fer	A	G	17: 63,924,072	K273E	probably benign	Het
Gm906	T	C	13: 50,246,772	H506R	possibly damaging	Het
Gm9268	A	T	7: 43,047,833	L771F	possibly damaging	Het
Gzme	T	A	14: 56,118,397	I153F	probably benign	Het
Ice1	A	T	13: 70,596,343	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,529,328	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 127,141,414	E263*	probably null	Het
Kat8	A	G	7: 127,925,249	K433R	probably benign	Het
Klra5	C	A	6: 129,906,723	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,935,284	T59S	probably benign	Het
Lig3	C	T	11: 82,790,622	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,459,732	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,960,714	C90*	probably null	Het
Micall2	T	G	5: 139,717,556		probably null	Het
Mtmr3	G	T	11: 4,491,037	L539I	probably damaging	Het
Obscn	C	A	11: 59,034,136		probably null	Het
Olfml3	T	C	3: 103,736,259	T269A	probably benign	Het
Olfr1217	C	T	2: 89,023,890	G38R		Het
Oprl1	C	T	2: 181,718,661	A170V	possibly damaging	Het
Pdgfrb	G	A	18: 61,065,726	V319M	possibly damaging	Het
Pirb	G	A	7: 3,717,618	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,747,893	S552P	probably benign	Het
Pkd2	T	C	5: 104,466,975	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,612,729	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,695,833	D111G	probably damaging	Het
Plpp2	A	G	10: 79,527,868	S162P	probably damaging	Het
Prex2	T	A	1: 11,185,927	I1174K	probably benign	Het
Prkdc	T	A	16: 15,667,601	Y431N	possibly damaging	Het
Pter	A	G	2: 12,980,300	D147G	probably benign	Het
Rbsn	T	C	6: 92,201,764	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,296,142	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,579,926		probably benign	Het
Scn2a	G	A	2: 65,764,819	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,573,407	N593I	probably damaging	Het
Speg	T	C	1: 75,422,508	S2200P	probably benign	Het
Ttll6	G	A	11: 96,135,762	R124H	probably damaging	Het
Vmn2r111	A	G	17: 22,559,151	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,455,831	S213P	probably damaging	Het
Washc4	A	G	10: 83,560,523	N399S	probably benign	Het
Wdr37	G	A	13: 8,847,627	H198Y		Het
Zfp407	A	G	18: 84,562,454	L178P	probably benign	Het
Zfp882	C	T	8: 71,914,987	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,963,436	V243A	probably benign	Het

Other mutations in Tle1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Tle1	APN	4	72169118	missense	possibly damaging	0.94
IGL00972:Tle1	APN	4	72122400	missense	probably damaging	1.00
IGL01548:Tle1	APN	4	72170718	missense	probably damaging	1.00
IGL01737:Tle1	APN	4	72197821	splice site	probably benign
IGL01798:Tle1	APN	4	72137148	missense	probably damaging	1.00
IGL01943:Tle1	APN	4	72122402	missense	probably damaging	1.00
BB006:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
BB016:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
PIT4515001:Tle1	UTSW	4	72199319	missense	possibly damaging	0.47
R0140:Tle1	UTSW	4	72120185	missense	probably damaging	1.00
R0544:Tle1	UTSW	4	72124990	missense	probably damaging	1.00
R0603:Tle1	UTSW	4	72118347	missense	probably damaging	1.00
R0729:Tle1	UTSW	4	72126442	splice site	probably benign
R0786:Tle1	UTSW	4	72199361	missense	probably damaging	1.00
R0939:Tle1	UTSW	4	72118534	missense	probably damaging	1.00
R1297:Tle1	UTSW	4	72124838	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72139831	missense	probably damaging	1.00
R1465:Tle1	UTSW	4	72139831	missense	probably damaging	1.00
R1512:Tle1	UTSW	4	72141258	missense	probably damaging	1.00
R1967:Tle1	UTSW	4	72120226	missense	probably damaging	1.00
R2218:Tle1	UTSW	4	72199319	missense	possibly damaging	0.47
R3713:Tle1	UTSW	4	72126422	missense	possibly damaging	0.70
R4367:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4379:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4380:Tle1	UTSW	4	72118163	utr 3 prime	probably benign
R4655:Tle1	UTSW	4	72145344	missense	possibly damaging	0.68
R4662:Tle1	UTSW	4	72137098	missense	possibly damaging	0.92
R4731:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4732:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4733:Tle1	UTSW	4	72125019	missense	possibly damaging	0.71
R4812:Tle1	UTSW	4	72145354	missense	probably damaging	0.98
R5066:Tle1	UTSW	4	72158267	missense	probably benign	0.24
R5288:Tle1	UTSW	4	72141844	missense	probably damaging	1.00
R5386:Tle1	UTSW	4	72141844	missense	probably damaging	1.00
R5405:Tle1	UTSW	4	72138971	intron	probably benign
R5579:Tle1	UTSW	4	72139808	missense	probably damaging	1.00
R5590:Tle1	UTSW	4	72124971	missense	possibly damaging	0.91
R5762:Tle1	UTSW	4	72120135	splice site	probably null
R6617:Tle1	UTSW	4	72141280	missense	probably damaging	0.98
R6750:Tle1	UTSW	4	72122450	missense	probably damaging	1.00
R7077:Tle1	UTSW	4	72158375	missense	probably benign	0.25
R7153:Tle1	UTSW	4	72139061	missense	probably benign	0.03
R7156:Tle1	UTSW	4	72170716	missense	probably benign	0.15
R7266:Tle1	UTSW	4	72139687	critical splice donor site	probably null
R7316:Tle1	UTSW	4	72118292	missense	probably benign	0.01
R7478:Tle1	UTSW	4	72137112	missense	probably damaging	0.96
R7523:Tle1	UTSW	4	72145418	missense	possibly damaging	0.94
R7736:Tle1	UTSW	4	72199334	missense	probably damaging	1.00
R7862:Tle1	UTSW	4	72199315	missense	probably damaging	1.00
R7863:Tle1	UTSW	4	72141292	missense	probably null	0.68
R7929:Tle1	UTSW	4	72200002	missense	possibly damaging	0.50
R8074:Tle1	UTSW	4	72138979	frame shift	probably null
R8233:Tle1	UTSW	4	72124944	missense	probably benign	0.11
R8315:Tle1	UTSW	4	72126191	nonsense	probably null
R8350:Tle1	UTSW	4	72138966	intron	probably benign
R8494:Tle1	UTSW	4	72125004	missense	possibly damaging	0.90
R8512:Tle1	UTSW	4	72122433	missense	possibly damaging	0.64
R8919:Tle1	UTSW	4	72158288	missense	possibly damaging	0.94
R9171:Tle1	UTSW	4	72124995	missense	possibly damaging	0.50
R9192:Tle1	UTSW	4	72118516	missense	probably benign	0.12
R9391:Tle1	UTSW	4	72197922	missense	probably damaging	1.00
R9481:Tle1	UTSW	4	72126267	missense	probably damaging	0.96
R9497:Tle1	UTSW	4	72152898	critical splice acceptor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GACTCACAGGATTCTTTGTAACC -3'
(R):5'- TTTACCTTGAGCTCTGGCAGG -3'

Sequencing Primer
(F):5'- GTAACCATCCCCTGTGTGTGTG -3'
(R):5'- TACCTTGAGCTCTGGCAGGAAATC -3'

Posted On

2022-06-15