Mutagenetix > Incidental Mutation

Incidental Mutation 'R4441:Tle2'

329775

Institutional Source

Beutler Lab

Gene Symbol

Tle2

Ensembl Gene

ENSMUSG00000034771

Gene Name

transducin-like enhancer of split 2

Synonyms

Grg2

MMRRC Submission

041706-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.249) question?

Stock #

R4441 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81574561-81590845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 81581682 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 227 (E227G)

Ref Sequence

ENSEMBL: ENSMUSP00000121125 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000135211] [ENSMUST00000136341] [ENSMUST00000143285] [ENSMUST00000146358] [ENSMUST00000146916]

AlphaFold

Q9WVB2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129798

Predicted Effect

probably benign
Transcript: ENSMUST00000135211
AA Change: E193G

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

SMART Domains

Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: E193G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	122	3e-68	PFAM
low complexity region	133	160	N/A	INTRINSIC
low complexity region	172	194	N/A	INTRINSIC
low complexity region	262	277	N/A	INTRINSIC
low complexity region	332	352	N/A	INTRINSIC
WD40	436	473	5.6e-3	SMART
WD40	479	520	9.6e-2	SMART
WD40	525	564	1.88e-4	SMART
WD40	567	606	3.72e-8	SMART
Blast:WD40	609	647	8e-18	BLAST
WD40	649	688	1.2e-2	SMART
WD40	689	729	2.07e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136254

Predicted Effect

probably benign
Transcript: ENSMUST00000136341

SMART Domains

Protein: ENSMUSP00000121585
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	121	1.3e-73	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140433

Predicted Effect

probably benign
Transcript: ENSMUST00000143285

SMART Domains

Protein: ENSMUSP00000122074
Gene: ENSMUSG00000034771

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	78	1.5e-49	PFAM
Pfam:TLE_N	76	114	1.3e-11	PFAM
low complexity region	124	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145878

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146358
AA Change: E227G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: E227G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	64	2e-31	PFAM
Pfam:TLE_N	81	154	4.3e-34	PFAM
low complexity region	167	194	N/A	INTRINSIC
low complexity region	206	228	N/A	INTRINSIC
low complexity region	296	311	N/A	INTRINSIC
low complexity region	366	386	N/A	INTRINSIC
WD40	471	508	5.6e-3	SMART
WD40	514	555	9.6e-2	SMART
WD40	560	599	1.88e-4	SMART
WD40	602	641	3.72e-8	SMART
Blast:WD40	644	682	9e-18	BLAST
WD40	684	723	1.2e-2	SMART
WD40	724	764	2.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146916
AA Change: E204G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: E204G

Domain	Start	End	E-Value	Type
Pfam:TLE_N	1	134	1.6e-75	PFAM
low complexity region	144	171	N/A	INTRINSIC
low complexity region	183	205	N/A	INTRINSIC
low complexity region	273	288	N/A	INTRINSIC
low complexity region	343	363	N/A	INTRINSIC
WD40	435	472	5.6e-3	SMART
WD40	478	519	9.6e-2	SMART
WD40	524	563	1.88e-4	SMART
WD40	566	605	3.72e-8	SMART
WD40	648	687	1.2e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151470

Meta Mutation Damage Score

0.1294

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,527,801	R1238S	probably benign	Het
Ankmy1	A	T	1: 92,888,661	Y244N	possibly damaging	Het
Asxl3	C	T	18: 22,524,233	P1767S	probably damaging	Het
C1qtnf7	A	T	5: 43,609,270	K70N	possibly damaging	Het
Fam78b	C	A	1: 167,078,922	Q217K	probably damaging	Het
Fam92a	A	G	4: 12,157,733	M261T	probably damaging	Het
Garem1	T	C	18: 21,168,750	T127A	possibly damaging	Het
Gls	A	T	1: 52,196,163		probably null	Het
Gm12790	A	C	4: 101,968,140	S26A	probably damaging	Het
Gm136	T	C	4: 34,755,911	D34G	probably benign	Het
Gmds	A	G	13: 31,940,478		probably null	Het
Hdac9	G	T	12: 34,389,376	H401N	probably damaging	Het
Hmcn1	T	C	1: 150,657,459	I3026V	probably null	Het
Igkv6-20	A	T	6: 70,336,117	M24K	probably damaging	Het
Ilf2	T	C	3: 90,487,462	L339P	probably benign	Het
Insr	T	A	8: 3,194,902	K501N	probably benign	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mcm5	T	C	8: 75,112,544	S142P	probably benign	Het
Mcpt9	A	G	14: 56,027,552	V164A	probably damaging	Het
Ncapd3	T	A	9: 27,051,645	D415E	possibly damaging	Het
Nfia	T	C	4: 97,772,913		probably null	Het
Nipbl	G	C	15: 8,366,658	Q144E	probably damaging	Het
Olfr1346	T	C	7: 6,474,925	S272P	probably benign	Het
Olfr578	A	T	7: 102,984,309	V285E	possibly damaging	Het
Olfr638	T	G	7: 104,004,072	F266V	probably damaging	Het
Pcdhgb8	A	G	18: 37,763,061	I395V	possibly damaging	Het
Plcz1	T	A	6: 139,990,687	L605F	probably benign	Het
Prph	G	A	15: 99,057,124	S325N	probably damaging	Het
Ptpn23	A	G	9: 110,392,725	M131T	probably benign	Het
Rab3ip	T	G	10: 116,915,932	D278A	probably benign	Het
Rasgrf2	T	C	13: 91,983,678	D620G	possibly damaging	Het
Rbm5	A	G	9: 107,749,688		probably benign	Het
Rc3h2	A	G	2: 37,414,514		probably null	Het
Tbxa2r	T	C	10: 81,333,091	S205P	probably damaging	Het
Tenm4	A	G	7: 96,895,815	N2375S	probably benign	Het
Tespa1	C	T	10: 130,361,957	R283C	probably damaging	Het
Tex45	C	T	8: 3,476,105	S86L	probably damaging	Het
Tnik	A	G	3: 28,564,097	I266V	possibly damaging	Het
Tnn	T	G	1: 160,116,080	E1054D	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trpm1	A	G	7: 64,201,918	D12G	probably damaging	Het
Vrk3	C	T	7: 44,775,442	T427M	probably benign	Het
Wdr7	T	A	18: 63,755,210	Y585N	probably damaging	Het
Zgrf1	T	A	3: 127,586,137	N223K	possibly damaging	Het

Other mutations in Tle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Tle2	APN	10	81581739	missense	probably benign	0.12
IGL02651:Tle2	APN	10	81586889	missense	probably damaging	1.00
IGL02809:Tle2	APN	10	81586362	splice site	probably null
IGL03235:Tle2	APN	10	81586251	missense	probably benign	0.22
IGL03307:Tle2	APN	10	81590240	missense	probably damaging	1.00
foxbat	UTSW	10	81586313	nonsense	probably null
Illyushin	UTSW	10	81588872	missense	probably damaging	1.00
R5011_Tle2_517	UTSW	10	81584697	missense	probably damaging	1.00
PIT4515001:Tle2	UTSW	10	81587130	missense	possibly damaging	0.72
R0394:Tle2	UTSW	10	81577648	missense	probably damaging	1.00
R0744:Tle2	UTSW	10	81588947	missense	probably damaging	1.00
R0826:Tle2	UTSW	10	81586314	missense	possibly damaging	0.95
R0833:Tle2	UTSW	10	81588947	missense	probably damaging	1.00
R1796:Tle2	UTSW	10	81589497	critical splice donor site	probably null
R2067:Tle2	UTSW	10	81580551	missense	probably damaging	1.00
R2184:Tle2	UTSW	10	81590277	missense	probably damaging	1.00
R2198:Tle2	UTSW	10	81590313	missense	probably damaging	1.00
R4439:Tle2	UTSW	10	81581682	missense	possibly damaging	0.62
R4440:Tle2	UTSW	10	81581682	missense	possibly damaging	0.62
R4513:Tle2	UTSW	10	81587560	missense	probably damaging	1.00
R4839:Tle2	UTSW	10	81577684	missense	probably damaging	1.00
R4863:Tle2	UTSW	10	81588891	missense	possibly damaging	0.88
R5011:Tle2	UTSW	10	81584697	missense	probably damaging	1.00
R5505:Tle2	UTSW	10	81581740	missense	probably benign	0.00
R5538:Tle2	UTSW	10	81580584	missense	probably damaging	1.00
R5790:Tle2	UTSW	10	81590315	missense	probably damaging	1.00
R5917:Tle2	UTSW	10	81580916	critical splice donor site	probably null
R6176:Tle2	UTSW	10	81587334	missense	probably damaging	0.99
R6200:Tle2	UTSW	10	81588872	missense	probably damaging	1.00
R6914:Tle2	UTSW	10	81586356	missense	probably damaging	1.00
R7367:Tle2	UTSW	10	81580318	missense	probably damaging	0.99
R7600:Tle2	UTSW	10	81586313	nonsense	probably null
R7729:Tle2	UTSW	10	81587147	missense	probably damaging	0.99
R8333:Tle2	UTSW	10	81577684	missense	probably damaging	1.00
R8511:Tle2	UTSW	10	81587996	missense	probably damaging	1.00
R9562:Tle2	UTSW	10	81581733	missense	probably benign	0.11
R9565:Tle2	UTSW	10	81581733	missense	probably benign	0.11
T0970:Tle2	UTSW	10	81580285	missense	possibly damaging	0.71
Z1177:Tle2	UTSW	10	81582446	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACTCTATTAGCTGACAGAGGCAGAG -3'
(R):5'- AGCACCATGGACACAGTTCC -3'

Sequencing Primer
(F):5'- GTAGAGCCCTGCCTAGAATCCTAG -3'
(R):5'- TGGACACAGTTCCCATGGATC -3'

Posted On

2015-07-21