Mutagenetix > Incidental Mutation

Incidental Mutation 'R2067:Tle2'

226774

Institutional Source

Beutler Lab

Gene Symbol

Tle2

Ensembl Gene

ENSMUSG00000034771

Gene Name

transducin-like enhancer of split 2

Synonyms

Grg2

MMRRC Submission

040072-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.429) question?

Stock #

R2067 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81410395-81426679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81416385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 135 (L135P)

Ref Sequence

ENSEMBL: ENSMUSP00000117453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000131794] [ENSMUST00000135211] [ENSMUST00000136341] [ENSMUST00000143285] [ENSMUST00000146358] [ENSMUST00000146916]

AlphaFold

Q9WVB2

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129798

Predicted Effect

probably benign
Transcript: ENSMUST00000131794

Predicted Effect

probably damaging
Transcript: ENSMUST00000135211
AA Change: L135P

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

SMART Domains

Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: L135P

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

unknown
Transcript: ENSMUST00000143285
AA Change: L126P

SMART Domains

Protein: ENSMUSP00000122074
Gene: ENSMUSG00000034771
AA Change: L126P

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

probably damaging
Transcript: ENSMUST00000146358
AA Change: L169P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: L169P

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 damaging
Transcript: ENSMUST00000146916
AA Change: L146P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: L146P

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: ENSMUST00000162771

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151470

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145878

Meta Mutation Damage Score

0.0758

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530002B09Rik	T	A	4: 122,583,115 (GRCm39)		probably benign	Het
Abca2	A	T	2: 25,327,517 (GRCm39)	I669F	possibly damaging	Het
Acin1	T	A	14: 54,902,711 (GRCm39)	Q360H	probably damaging	Het
Aldh3b1	T	A	19: 3,971,755 (GRCm39)	D72V	probably benign	Het
Alox12e	G	A	11: 70,206,828 (GRCm39)	R620W	probably damaging	Het
Alpl	T	C	4: 137,476,856 (GRCm39)		probably benign	Het
Amy2a1	T	C	3: 113,324,217 (GRCm39)	I108V	probably benign	Het
Ascc2	A	T	11: 4,631,496 (GRCm39)	M646L	probably benign	Het
Bod1l	G	A	5: 41,974,429 (GRCm39)	T2295M	probably benign	Het
Ccdc9	A	T	7: 16,012,475 (GRCm39)		probably null	Het
Clptm1l	C	T	13: 73,755,842 (GRCm39)	Q153*	probably null	Het
Csmd1	A	G	8: 15,950,782 (GRCm39)	S3476P	probably benign	Het
Ddias	A	T	7: 92,508,907 (GRCm39)	M336K	possibly damaging	Het
Ehd1	T	C	19: 6,348,108 (GRCm39)	L362P	probably benign	Het
Epha1	G	T	6: 42,342,987 (GRCm39)	H187Q	probably benign	Het
Espl1	T	C	15: 102,207,525 (GRCm39)	S330P	probably damaging	Het
Fbln7	G	T	2: 128,719,386 (GRCm39)	R61L	probably damaging	Het
Fbxo41	C	T	6: 85,455,453 (GRCm39)	W577*	probably null	Het
Fgb	C	A	3: 82,956,996 (GRCm39)	D25Y	probably benign	Het
Gc	T	A	5: 89,594,376 (GRCm39)	K37N	probably damaging	Het
Gfpt1	T	C	6: 87,034,736 (GRCm39)	I178T	probably benign	Het
Gm12695	T	C	4: 96,657,963 (GRCm39)	T69A	probably benign	Het
Gm3944	C	A	12: 18,903,895 (GRCm39)	S8*	probably null	Het
Gm9912	T	C	3: 148,890,795 (GRCm39)	T113A	unknown	Het
Gpr156	A	G	16: 37,799,113 (GRCm39)	D109G	probably benign	Het
Hoxd1	A	T	2: 74,593,710 (GRCm39)	T89S	probably benign	Het
Htt	C	T	5: 34,983,326 (GRCm39)	T975I	probably benign	Het
Itpr3	G	A	17: 27,317,050 (GRCm39)	M768I	probably benign	Het
Krt4	C	A	15: 101,833,099 (GRCm39)	A3S	possibly damaging	Het
Mrto4	T	C	4: 139,076,334 (GRCm39)	K86E	probably benign	Het
Mup4	T	A	4: 59,960,622 (GRCm39)		probably benign	Het
Myh1	G	A	11: 67,105,446 (GRCm39)	D1079N	possibly damaging	Het
Myo1a	A	G	10: 127,541,347 (GRCm39)	N43D	probably benign	Het
Napa	A	T	7: 15,849,203 (GRCm39)		probably benign	Het
Ndufa12	A	G	10: 94,056,569 (GRCm39)	D99G	probably damaging	Het
Neb	A	G	2: 52,174,275 (GRCm39)	I1528T	probably benign	Het
Nek1	T	C	8: 61,460,196 (GRCm39)	S41P	probably damaging	Het
Nolc1	C	T	19: 46,072,046 (GRCm39)	T612M	probably damaging	Het
Nsun5	T	G	5: 135,403,926 (GRCm39)	Y301D	probably damaging	Het
Oas1g	T	C	5: 121,023,946 (GRCm39)	E121G	probably damaging	Het
Or1e1f	A	G	11: 73,855,740 (GRCm39)	Y102C	probably damaging	Het
Or2ab1	A	G	11: 58,488,396 (GRCm39)	N58S	probably damaging	Het
Or5d41	A	G	2: 88,054,818 (GRCm39)	V186A	possibly damaging	Het
Or6ae1	T	A	7: 139,742,822 (GRCm39)	I14F	possibly damaging	Het
Or8b46	T	A	9: 38,450,576 (GRCm39)	N128K	probably benign	Het
Or8k38	G	T	2: 86,488,781 (GRCm39)	T7K	probably damaging	Het
Osmr	T	C	15: 6,844,896 (GRCm39)	N957D	probably benign	Het
Parn	G	A	16: 13,420,933 (GRCm39)	S473L	probably damaging	Het
Phc2	T	C	4: 128,640,929 (GRCm39)	F672S	probably damaging	Het
Pik3c2b	T	C	1: 133,027,349 (GRCm39)	S1283P	probably damaging	Het
Pole2	G	A	12: 69,274,926 (GRCm39)	R5W	probably benign	Het
Prl7a2	T	A	13: 27,844,870 (GRCm39)	Y172F	probably damaging	Het
Ptprz1	A	G	6: 23,050,388 (GRCm39)		probably benign	Het
Rapgef3	C	A	15: 97,664,842 (GRCm39)	G7V	probably damaging	Het
Ripor1	T	A	8: 106,344,340 (GRCm39)	S491R	probably benign	Het
Rnf141	A	G	7: 110,420,572 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,777,302 (GRCm39)	R285Q	probably damaging	Het
Sall4	T	C	2: 168,598,465 (GRCm39)	N125S	probably benign	Het
Schip1	A	G	3: 68,525,119 (GRCm39)	K360R	probably damaging	Het
Senp6	T	A	9: 79,997,151 (GRCm39)	V55E	probably benign	Het
Skint1	T	A	4: 111,882,730 (GRCm39)	V258D	probably benign	Het
Slc25a16	T	A	10: 62,768,530 (GRCm39)	H130Q	probably benign	Het
Styx	T	C	14: 45,611,020 (GRCm39)	V217A	probably benign	Het
Syne2	G	A	12: 75,935,116 (GRCm39)		probably null	Het
Tagap1	A	G	17: 7,224,259 (GRCm39)	S146P	probably benign	Het
Tatdn2	A	G	6: 113,681,103 (GRCm39)	K379E	probably benign	Het
Thrap3	T	C	4: 126,069,189 (GRCm39)	Y654C	possibly damaging	Het
Tmc1	A	G	19: 20,801,673 (GRCm39)	F451S	possibly damaging	Het
Trpm7	G	A	2: 126,639,647 (GRCm39)	P1650S	probably damaging	Het
Ttll4	G	A	1: 74,719,541 (GRCm39)	R16H	possibly damaging	Het
Ttn	T	C	2: 76,544,717 (GRCm39)	N32795S	probably damaging	Het
Tubgcp6	T	C	15: 88,988,692 (GRCm39)	E803G	probably benign	Het
Ubr2	A	G	17: 47,274,071 (GRCm39)		probably null	Het
Ugt2b35	A	G	5: 87,149,412 (GRCm39)	D221G	probably damaging	Het
Unc45b	G	A	11: 82,802,515 (GRCm39)	A4T	probably benign	Het
Vmn1r70	A	T	7: 10,368,264 (GRCm39)	I251F	possibly damaging	Het
Vmn2r120	T	A	17: 57,831,553 (GRCm39)	H412L	possibly damaging	Het
Zfp59	A	G	7: 27,552,935 (GRCm39)	N129S	probably benign	Het
Zgrf1	T	C	3: 127,406,999 (GRCm39)	C1589R	probably damaging	Het

Other mutations in Tle2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00691:Tle2	APN	10	81,417,573 (GRCm39)	missense	probably benign	0.12
IGL02651:Tle2	APN	10	81,422,723 (GRCm39)	missense	probably damaging	1.00
IGL02809:Tle2	APN	10	81,422,196 (GRCm39)	splice site	probably null
IGL03235:Tle2	APN	10	81,422,085 (GRCm39)	missense	probably benign	0.22
IGL03307:Tle2	APN	10	81,426,074 (GRCm39)	missense	probably damaging	1.00
foxbat	UTSW	10	81,422,147 (GRCm39)	nonsense	probably null
Illyushin	UTSW	10	81,424,706 (GRCm39)	missense	probably damaging	1.00
R5011_Tle2_517	UTSW	10	81,420,531 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Tle2	UTSW	10	81,422,964 (GRCm39)	missense	possibly damaging	0.72
R0394:Tle2	UTSW	10	81,413,482 (GRCm39)	missense	probably damaging	1.00
R0744:Tle2	UTSW	10	81,424,781 (GRCm39)	missense	probably damaging	1.00
R0826:Tle2	UTSW	10	81,422,148 (GRCm39)	missense	possibly damaging	0.95
R0833:Tle2	UTSW	10	81,424,781 (GRCm39)	missense	probably damaging	1.00
R1796:Tle2	UTSW	10	81,425,331 (GRCm39)	critical splice donor site	probably null
R2184:Tle2	UTSW	10	81,426,111 (GRCm39)	missense	probably damaging	1.00
R2198:Tle2	UTSW	10	81,426,147 (GRCm39)	missense	probably damaging	1.00
R4439:Tle2	UTSW	10	81,417,516 (GRCm39)	missense	possibly damaging	0.62
R4440:Tle2	UTSW	10	81,417,516 (GRCm39)	missense	possibly damaging	0.62
R4441:Tle2	UTSW	10	81,417,516 (GRCm39)	missense	possibly damaging	0.62
R4513:Tle2	UTSW	10	81,423,394 (GRCm39)	missense	probably damaging	1.00
R4839:Tle2	UTSW	10	81,413,518 (GRCm39)	missense	probably damaging	1.00
R4863:Tle2	UTSW	10	81,424,725 (GRCm39)	missense	possibly damaging	0.88
R5011:Tle2	UTSW	10	81,420,531 (GRCm39)	missense	probably damaging	1.00
R5505:Tle2	UTSW	10	81,417,574 (GRCm39)	missense	probably benign	0.00
R5538:Tle2	UTSW	10	81,416,418 (GRCm39)	missense	probably damaging	1.00
R5790:Tle2	UTSW	10	81,426,149 (GRCm39)	missense	probably damaging	1.00
R5917:Tle2	UTSW	10	81,416,750 (GRCm39)	critical splice donor site	probably null
R6176:Tle2	UTSW	10	81,423,168 (GRCm39)	missense	probably damaging	0.99
R6200:Tle2	UTSW	10	81,424,706 (GRCm39)	missense	probably damaging	1.00
R6914:Tle2	UTSW	10	81,422,190 (GRCm39)	missense	probably damaging	1.00
R7367:Tle2	UTSW	10	81,416,152 (GRCm39)	missense	probably damaging	0.99
R7600:Tle2	UTSW	10	81,422,147 (GRCm39)	nonsense	probably null
R7729:Tle2	UTSW	10	81,422,981 (GRCm39)	missense	probably damaging	0.99
R8333:Tle2	UTSW	10	81,413,518 (GRCm39)	missense	probably damaging	1.00
R8511:Tle2	UTSW	10	81,423,830 (GRCm39)	missense	probably damaging	1.00
R9562:Tle2	UTSW	10	81,417,567 (GRCm39)	missense	probably benign	0.11
R9565:Tle2	UTSW	10	81,417,567 (GRCm39)	missense	probably benign	0.11
T0970:Tle2	UTSW	10	81,416,119 (GRCm39)	missense	possibly damaging	0.71
Z1177:Tle2	UTSW	10	81,418,280 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGTCTTAGGAGATGCCCTG -3'
(R):5'- TGTGTTCCCAAGGACAAACAGC -3'

Sequencing Primer
(F):5'- TTAGGAGATGCCCTGCTCCC -3'
(R):5'- TTGAACCCCACAGCTGCAG -3'

Posted On

2014-09-17