Mutagenetix > Incidental Mutation

Incidental Mutation 'R4863:Tle2'

374675

Institutional Source

Beutler Lab

Gene Symbol

Tle2

Ensembl Gene

ENSMUSG00000034771

Gene Name

transducin-like enhancer of split 2

Synonyms

Grg2

MMRRC Submission

042473-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.355) question?

Stock #

R4863 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81574561-81590845 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81588891 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 649 (R649H)

Ref Sequence

ENSEMBL: ENSMUSP00000117453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072020] [ENSMUST00000135211] [ENSMUST00000146916] [ENSMUST00000146358] [ENSMUST00000142948]

AlphaFold

Q9WVB2

Predicted Effect

probably benign
Transcript: ENSMUST00000072020

SMART Domains

Protein: ENSMUSP00000071905
Gene: ENSMUSG00000034758

Domain	Start	End	E-Value	Type
WD40	283	320	9.6e-2	SMART
Blast:WD40	334	372	2e-12	BLAST
WD40	377	415	6.16e0	SMART
WD40	418	455	7.43e-1	SMART
Blast:WD40	460	496	4e-13	BLAST
WD40	499	538	1.43e0	SMART
WD40	541	578	2.97e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000124854
AA Change: R45H

SMART Domains

Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771
AA Change: R45H

Domain	Start	End	E-Value	Type
Blast:WD40	6	44	9e-20	BLAST
WD40	46	85	1.2e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129798

Predicted Effect

unknown
Transcript: ENSMUST00000131411
AA Change: R35H

SMART Domains

Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771
AA Change: R35H

Domain	Start	End	E-Value	Type
WD40	36	75	1.2e-2	SMART
WD40	76	116	2.07e-1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000135211
AA Change: R649H

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: R649H

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

noncoding transcript
Transcript: ENSMUST00000137631

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140433

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146916
AA Change: R648H

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: R648H

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

possibly damaging
Transcript: ENSMUST00000146358
AA Change: R684H

PolyPhen 2 Score 0.739 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: R684H

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

noncoding transcript
Transcript: ENSMUST00000145878

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141913

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146239

Predicted Effect

probably benign
Transcript: ENSMUST00000142948

SMART Domains

Protein: ENSMUSP00000117287
Gene: ENSMUSG00000034758

Domain	Start	End	E-Value	Type
WD40	273	310	9.6e-2	SMART
Blast:WD40	324	362	2e-12	BLAST
WD40	367	405	6.16e0	SMART
WD40	408	445	7.43e-1	SMART
Blast:WD40	450	486	4e-13	BLAST
WD40	489	528	1.43e0	SMART
WD40	531	568	2.97e0	SMART

Meta Mutation Damage Score

0.1775

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (105/106)

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210407C18Rik	A	T	11: 58,612,512		probably null	Het
4930578I06Rik	C	T	14: 63,973,209	R190H	probably benign	Het
A530032D15Rik	C	T	1: 85,088,800		probably benign	Het
Abcc12	T	A	8: 86,538,376	I647F	probably damaging	Het
Acnat2	C	A	4: 49,380,172	W384L	probably damaging	Het
Acvr1	A	G	2: 58,477,711	L146P	possibly damaging	Het
Ankrd16	T	A	2: 11,784,316	M238K	probably benign	Het
BC005561	A	T	5: 104,517,750	D46V	possibly damaging	Het
Cd3eap	T	A	7: 19,357,759	Q141L	probably damaging	Het
Clmn	A	T	12: 104,797,094	I91N	probably damaging	Het
Cog8	A	T	8: 107,050,174	L523H	probably damaging	Het
Cpxm2	T	A	7: 132,059,747	K437M	probably benign	Het
Dhx57	A	T	17: 80,253,111	V999E	probably damaging	Het
Dnpep	T	C	1: 75,309,230		probably benign	Het
Dok3	G	A	13: 55,523,457	R434W	probably damaging	Het
Dpysl5	C	T	5: 30,784,343	H275Y	probably benign	Het
Ednra	A	T	8: 77,667,383	N361K	probably damaging	Het
Ei24	A	T	9: 36,784,565	S210R	probably damaging	Het
Erich3	T	A	3: 154,764,804	V158E	unknown	Het
Fam193a	T	A	5: 34,466,205	V1379E	possibly damaging	Het
Fasn	A	G	11: 120,808,828	V2304A	probably damaging	Het
Fcgbp	A	C	7: 28,086,344	D402A	probably benign	Het
Fkbp14	T	C	6: 54,585,945		probably benign	Het
Fnip1	G	A	11: 54,515,556	V1160I	possibly damaging	Het
Fsd2	T	C	7: 81,552,964	K289R	probably null	Het
Fuca2	A	T	10: 13,505,907	D188V	probably damaging	Het
Gfpt2	T	C	11: 49,810,970	V116A	probably benign	Het
Gm10770	T	A	2: 150,178,896	K234*	probably null	Het
Gm9887	A	G	12: 69,371,989		probably benign	Het
Gtf3c2	A	G	5: 31,159,233		probably benign	Het
H2-M10.3	T	C	17: 36,366,636	D250G	probably damaging	Het
Hapln4	G	A	8: 70,084,492	V26M	possibly damaging	Het
Hook3	G	A	8: 26,038,029	A611V	probably damaging	Het
Hr	T	C	14: 70,571,972	L1141P	probably damaging	Het
Ifngr1	T	C	10: 19,609,416	S388P	probably damaging	Het
Itga3	T	A	11: 95,061,967	Q326L	probably damaging	Het
Itgb3	T	A	11: 104,665,520	I729N	probably damaging	Het
Kcnab2	A	G	4: 152,401,946	S132P	probably damaging	Het
Lama3	T	C	18: 12,498,678		probably benign	Het
Lama3	C	T	18: 12,539,793	A2481V	probably damaging	Het
Lce1e	A	T	3: 92,707,871	C56*	probably null	Het
Lmcd1	T	C	6: 112,287,871		probably benign	Het
Lrrc14	T	A	15: 76,713,362		probably null	Het
Map4k5	G	A	12: 69,818,438	P591L	probably benign	Het
Mapk13	C	A	17: 28,776,310	D168E	probably damaging	Het
Marf1	A	C	16: 14,132,665	H952Q	possibly damaging	Het
Megf6	T	C	4: 154,254,281		probably null	Het
Mical3	T	C	6: 121,033,787	I411M	probably damaging	Het
Myo5a	A	T	9: 75,217,507	K1781N	probably damaging	Het
N4bp2	T	C	5: 65,808,130	V1174A	probably benign	Het
Ncdn	A	T	4: 126,750,423	L202Q	probably damaging	Het
Ncor1	T	A	11: 62,392,638	M408L	possibly damaging	Het
Nf1	T	C	11: 79,409,409	L249P	probably damaging	Het
Nlrp9b	T	A	7: 20,049,596		probably null	Het
Nxpe3	A	T	16: 55,849,633	Y370N	probably damaging	Het
P2rx2	T	A	5: 110,341,568	T167S	probably benign	Het
Pcdhb19	G	T	18: 37,499,108	R652L	probably benign	Het
Pcdhga12	T	C	18: 37,768,281	L722P	probably benign	Het
Pde6a	A	T	18: 61,245,592	I329F	probably damaging	Het
Pdpr	T	A	8: 111,101,951	S29T	probably benign	Het
Pfkfb3	T	C	2: 11,486,312	D173G	probably benign	Het
Plcd4	A	G	1: 74,565,802		probably null	Het
Pou2f2	A	G	7: 25,097,108		probably benign	Het
Ppp1r14c	TGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGG	10: 3,366,702		probably benign	Het
Ppp1r42	T	C	1: 10,003,386		probably benign	Het
Ptpre	C	T	7: 135,669,132	H346Y	probably benign	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rab12	A	T	17: 66,498,108	Y142N	probably damaging	Het
Rai14	A	C	15: 10,572,470	M857R	probably damaging	Het
Ranbp2	A	G	10: 58,492,421	K2753R	probably damaging	Het
Rasa4	A	T	5: 136,103,911	K6*	probably null	Het
Rasgef1a	A	G	6: 118,089,139	M438V	probably benign	Het
Recql	T	G	6: 142,359,006		probably benign	Het
Rftn2	A	G	1: 55,172,039	V425A	probably benign	Het
Ror1	A	G	4: 100,409,804	Y234C	probably damaging	Het
Sap30l	T	A	11: 57,806,054	L70Q	probably damaging	Het
Scn4a	T	C	11: 106,320,002	R1730G	probably damaging	Het
Serinc5	T	G	13: 92,690,980	I268R	probably damaging	Het
Sin3b	G	A	8: 72,744,948	V432I	possibly damaging	Het
Slc30a6	T	C	17: 74,412,654	M203T	possibly damaging	Het
Soat1	T	C	1: 156,432,328	N481S	probably damaging	Het
Sos2	G	A	12: 69,640,154	T206I	probably benign	Het
Sp100	G	T	1: 85,705,003	A132S	probably benign	Het
Spata31d1c	T	A	13: 65,035,790	L382*	probably null	Het
Stard9	T	A	2: 120,700,860	W2533R	probably benign	Het
Tas2r126	A	G	6: 42,435,390	T286A	probably benign	Het
Tedc2	T	A	17: 24,217,936	K275M	probably damaging	Het
Ten1	A	T	11: 116,218,231	K242N	probably benign	Het
Tial1	C	T	7: 128,455,028	V1I	probably damaging	Het
Tmem178	A	G	17: 80,944,945	D86G	probably benign	Het
Trim29	T	A	9: 43,329,575	D528E	possibly damaging	Het
Vmn2r61	A	T	7: 42,300,708	T851S	probably benign	Het
Vmn2r72	T	A	7: 85,750,598	Q414H	possibly damaging	Het
Yars	A	T	4: 129,189,882		probably benign	Het
Yipf4	A	G	17: 74,494,092	Q135R	probably damaging	Het
Zfp341	G	A	2: 154,645,866		probably benign	Het
Zfp426	T	C	9: 20,470,038	Y536C	probably damaging	Het
Zp2	T	G	7: 120,135,772	Y430S	probably 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
R4441: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
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'- CAAGGTGCTGTGTTCCTCTG -3'
(R):5'- ACCTGAATAAGCAGCTGGGTG -3'

Sequencing Primer
(F):5'- CTCTGATGAATGCTAAGGTGTGACAC -3'
(R):5'- GGGCAGGCCTGGGTAATTC -3'

Posted On

2016-03-17