Mutagenetix > Incidental Mutation

Incidental Mutation 'R8511:Tle2'

655882

Institutional Source

Beutler Lab

Gene Symbol

Tle2

Ensembl Gene

ENSMUSG00000034771

Gene Name

transducin-like enhancer of split 2

Synonyms

Grg2

MMRRC Submission

067888-MU

Accession Numbers

Essential gene?

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

Stock #

R8511 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

81410395-81426679 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81423830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 648 (L648P)

Ref Sequence

ENSEMBL: ENSMUSP00000121125 (fasta)

Gene Model

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

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

SMART Domains

Protein: ENSMUSP00000118334
Gene: ENSMUSG00000034771
AA Change: L9P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131411

SMART Domains

Protein: ENSMUSP00000114400
Gene: ENSMUSG00000034771

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000135211
AA Change: L613P

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

SMART Domains

Protein: ENSMUSP00000117453
Gene: ENSMUSG00000034771
AA Change: L613P

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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000146358
AA Change: L648P

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

SMART Domains

Protein: ENSMUSP00000121125
Gene: ENSMUSG00000034771
AA Change: L648P

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: L612P

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

SMART Domains

Protein: ENSMUSP00000121173
Gene: ENSMUSG00000034771
AA Change: L612P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930512M02Rik	T	C	11: 11,540,056 (GRCm39)	H186R	unknown	Het
6430548M08Rik	A	G	8: 120,879,301 (GRCm39)	N233S	probably benign	Het
Acan	A	G	7: 78,747,683 (GRCm39)	D818G	possibly damaging	Het
Adam22	G	A	5: 8,184,558 (GRCm39)	T478I	probably damaging	Het
Afg2a	A	G	3: 37,490,897 (GRCm39)	M481V	probably damaging	Het
Agmo	T	A	12: 37,294,396 (GRCm39)	*115R	probably null	Het
Ahnak	A	G	19: 8,989,719 (GRCm39)	K3668E	unknown	Het
Aldh6a1	G	A	12: 84,480,745 (GRCm39)	T430I	possibly damaging	Het
Ankrd11	T	C	8: 123,626,468 (GRCm39)	D17G		Het
Apol10b	T	C	15: 77,469,211 (GRCm39)	E322G	probably benign	Het
Apol10b	C	G	15: 77,469,210 (GRCm39)	E322D	probably benign	Het
Apol8	C	T	15: 77,634,273 (GRCm39)	G101E	probably benign	Het
Arhgef26	A	T	3: 62,336,350 (GRCm39)	M630L	probably damaging	Het
Aspm	T	C	1: 139,385,046 (GRCm39)	L230P	probably damaging	Het
Atg101	T	C	15: 101,188,503 (GRCm39)	S203P	probably damaging	Het
Baz2b	T	A	2: 59,732,158 (GRCm39)	T1996S	probably benign	Het
Brwd1	A	T	16: 95,859,938 (GRCm39)	M350K	probably damaging	Het
Cad	A	G	5: 31,233,165 (GRCm39)	K1869R	probably benign	Het
Caskin1	A	T	17: 24,724,910 (GRCm39)	I1233F	probably benign	Het
Ckap5	T	A	2: 91,445,492 (GRCm39)	L1770I	possibly damaging	Het
Clip1	T	C	5: 123,791,969 (GRCm39)	N67S	possibly damaging	Het
Csmd2	A	G	4: 128,262,692 (GRCm39)	N626S		Het
Cuedc2	C	A	19: 46,319,358 (GRCm39)		probably null	Het
Dmbt1	A	T	7: 130,703,742 (GRCm39)	N1275Y	unknown	Het
Dnm3	A	G	1: 162,113,611 (GRCm39)	V483A	possibly damaging	Het
Dock9	A	T	14: 121,864,801 (GRCm39)	H718Q	probably benign	Het
Dock9	T	C	14: 121,918,847 (GRCm39)	D50G	probably damaging	Het
Egfr	T	G	11: 16,846,949 (GRCm39)	I782S	probably damaging	Het
Elmod1	A	T	9: 53,820,095 (GRCm39)	F298I	probably damaging	Het
Enthd1	T	C	15: 80,358,428 (GRCm39)	Q364R	probably damaging	Het
Fat2	T	A	11: 55,200,063 (GRCm39)	S1004C	probably damaging	Het
Fga	A	T	3: 82,939,064 (GRCm39)	K480*	probably null	Het
Fhod3	A	G	18: 25,265,994 (GRCm39)	T1561A	probably damaging	Het
Foxg1	T	A	12: 49,431,868 (GRCm39)	Y200*	probably null	Het
Foxj2	C	T	6: 122,808,404 (GRCm39)	R115*	probably null	Het
Ggnbp2	C	T	11: 84,728,815 (GRCm39)		probably null	Het
Gpsm2	A	G	3: 108,589,399 (GRCm39)	S580P	probably benign	Het
Hectd1	A	G	12: 51,834,654 (GRCm39)	S870P	probably benign	Het
Hic2	T	A	16: 17,075,874 (GRCm39)	N234K	possibly damaging	Het
Ica1	A	G	6: 8,754,726 (GRCm39)	F15L	probably benign	Het
Immp1l	G	A	2: 105,761,100 (GRCm39)	R3H	probably benign	Het
Iqca1l	T	A	5: 24,750,906 (GRCm39)	H559L	possibly damaging	Het
Jak3	T	A	8: 72,138,194 (GRCm39)	Y882N	probably damaging	Het
Klk1b1	C	T	7: 43,619,767 (GRCm39)	R109C	possibly damaging	Het
Luzp1	A	G	4: 136,268,650 (GRCm39)	D291G	probably damaging	Het
Map3k19	C	T	1: 127,775,155 (GRCm39)	E61K	possibly damaging	Het
Mical3	A	G	6: 121,015,513 (GRCm39)	I175T	possibly damaging	Het
Nectin3	G	A	16: 46,284,363 (GRCm39)	P107L	probably damaging	Het
Or10d5	A	G	9: 39,861,455 (GRCm39)	V204A	probably benign	Het
Pira1	A	G	7: 3,742,347 (GRCm39)	L60P	probably damaging	Het
Polr1a	C	A	6: 71,897,504 (GRCm39)	H207N	probably benign	Het
Prokr2	A	G	2: 132,223,422 (GRCm39)	V40A	probably benign	Het
Prtg	T	C	9: 72,798,156 (GRCm39)		probably null	Het
Ptprs	G	A	17: 56,754,440 (GRCm39)	T200I	probably damaging	Het
Ramp3	C	T	11: 6,626,709 (GRCm39)	R139C	probably benign	Het
Scfd2	A	G	5: 74,372,949 (GRCm39)	V642A	possibly damaging	Het
Scn11a	T	C	9: 119,618,981 (GRCm39)	K787R	probably damaging	Het
Slco3a1	A	G	7: 73,952,990 (GRCm39)	V523A	probably benign	Het
Smo	A	G	6: 29,755,531 (GRCm39)	Y401C	probably damaging	Het
Stmn2	A	G	3: 8,574,615 (GRCm39)		probably benign	Het
Stra6l	G	T	4: 45,885,347 (GRCm39)	G605V	probably benign	Het
Syne2	A	G	12: 76,055,647 (GRCm39)	I4170V	probably benign	Het
Tgm7	T	A	2: 120,924,141 (GRCm39)	I594F	probably damaging	Het
Tmprss2	G	T	16: 97,369,662 (GRCm39)	L371I	possibly damaging	Het
Ttn	T	C	2: 76,579,866 (GRCm39)	R23676G	probably damaging	Het
Tvp23b	T	C	11: 62,774,563 (GRCm39)	I69T	possibly damaging	Het
Vmn2r66	A	T	7: 84,656,026 (GRCm39)	I330N	probably damaging	Het
Vmn2r99	A	T	17: 19,614,443 (GRCm39)	D721V	probably damaging	Het
Zan	A	T	5: 137,445,108 (GRCm39)	V1717E	unknown	Het
Zmiz2	C	T	11: 6,353,190 (GRCm39)	H658Y	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
R2067:Tle2	UTSW	10	81,416,385 (GRCm39)	missense	probably damaging	1.00
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
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'- GTAACATCGTGGTCTGGGAC -3'
(R):5'- CGTATGTAAGGCAGTCCGTC -3'

Sequencing Primer
(F):5'- TGCAGAACCAGGCCATG -3'
(R):5'- CATGCCCAGGGTTATAGGCAG -3'

Posted On

2020-10-20