Mutagenetix > Incidental Mutations

Incidental Mutation 'R1174:Tle4'

99865

Institutional Source

Beutler Lab

Gene Symbol

Tle4

Ensembl Gene

ENSMUSG00000024642

Gene Name

transducin-like enhancer of split 4

Synonyms

Bce1, ESTM14, 5730411M05Rik, Grg4, ESTM13

MMRRC Submission

039247-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1174 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14448072-14598051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 14468262 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 207 (V207I)

Ref Sequence

ENSEMBL: ENSMUSP00000126249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052011] [ENSMUST00000167776]

Predicted Effect

probably benign
Transcript: ENSMUST00000052011
AA Change: V207I

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

SMART Domains

Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: V207I

Domain	Start	End	E-Value	Type
Pfam:TLE_N	8	138	9.1e-76	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	201	216	N/A	INTRINSIC
low complexity region	226	238	N/A	INTRINSIC
low complexity region	289	316	N/A	INTRINSIC
WD40	477	514	4.18e-2	SMART
WD40	520	561	3.64e-2	SMART
WD40	566	605	9.38e-5	SMART
WD40	608	647	1.14e-8	SMART
WD40	650	688	2.29e1	SMART
WD40	690	729	7.39e-3	SMART
WD40	730	770	4.14e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167776
AA Change: V207I

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

SMART Domains

Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: V207I

Domain	Start	End	E-Value	Type
Pfam:TLE_N	8	138	5.1e-76	PFAM
low complexity region	164	178	N/A	INTRINSIC
low complexity region	199	216	N/A	INTRINSIC
low complexity region	226	238	N/A	INTRINSIC
low complexity region	289	316	N/A	INTRINSIC
WD40	477	514	4.18e-2	SMART
WD40	520	561	3.64e-2	SMART
WD40	566	605	9.38e-5	SMART
WD40	608	647	1.14e-8	SMART
WD40	650	688	2.29e1	SMART
WD40	690	729	7.39e-3	SMART
WD40	730	770	4.14e-1	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are runted and die around 4 weeks of age with leukocytopenia, B cell lymphopenia, reduced bone mineralization and reduced hematopoietic stem cell number and function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610318N02Rik	T	A	16: 17,117,582	H214L	probably benign	Het
4921507P07Rik	T	A	6: 50,589,141	K118M	probably damaging	Het
Actn3	A	G	19: 4,864,756	L477P	probably damaging	Het
Adamts12	T	C	15: 11,071,757	V129A	probably benign	Het
Agxt2	T	C	15: 10,373,751	F81S	probably damaging	Het
Alpk1	T	A	3: 127,680,810	S515C	probably damaging	Het
Bivm	A	G	1: 44,126,782	T131A	probably benign	Het
Borcs5	T	A	6: 134,710,133	N150K	probably damaging	Het
Cdh7	G	A	1: 110,061,132	V255I	probably benign	Het
Cox4i1	C	A	8: 120,674,050	N151K	probably benign	Het
Cpeb4	T	C	11: 31,920,472	L432P	probably damaging	Het
Dnajb11	T	A	16: 22,870,673	D281E	probably damaging	Het
Eml6	A	G	11: 29,749,824	S1771P	possibly damaging	Het
Fes	A	T	7: 80,377,951	I815N	probably damaging	Het
Ghrhr	T	A	6: 55,388,269	L416*	probably null	Het
Glipr1l2	C	A	10: 112,083,466	L31I	possibly damaging	Het
Gm10093	A	T	17: 78,492,078	Y166F	probably benign	Het
Gm1818	A	G	12: 48,556,199		noncoding transcript	Het
Gpr149	A	G	3: 62,604,467	L37P	probably damaging	Het
Hoxa9	A	G	6: 52,225,713	I131T	probably damaging	Het
Idh1	G	T	1: 65,161,160	N348K	probably benign	Het
Klf6	A	G	13: 5,861,712	D25G	probably benign	Het
Laptm4a	T	C	12: 8,936,716	V258A	probably damaging	Het
Lypd6b	C	T	2: 49,943,597	A83V	possibly damaging	Het
Map3k19	A	G	1: 127,823,880	V578A	probably benign	Het
Mfsd13a	T	A	19: 46,374,686	I511N	probably benign	Het
Mrm3	T	C	11: 76,250,024	V286A	probably damaging	Het
Muc6	C	T	7: 141,648,101	G708S	probably damaging	Het
Neurl4	T	C	11: 69,903,721		probably null	Het
Pclo	T	C	5: 14,677,646		probably benign	Het
Pcnt	A	T	10: 76,393,044		probably null	Het
Pik3r4	G	T	9: 105,663,174	G754C	probably damaging	Het
Qtrt1	A	G	9: 21,412,486	T136A	probably benign	Het
Rgs12	T	A	5: 34,966,465	C531S	probably benign	Het
Rin1	C	A	19: 5,055,203	Q764K	probably benign	Het
Robo4	C	T	9: 37,413,052	R959W	probably damaging	Het
Rxfp2	T	C	5: 150,051,556	V210A	probably benign	Het
Serpinb9d	C	T	13: 33,200,625	P195L	probably benign	Het
Sos1	A	C	17: 80,445,608	Y323*	probably null	Het
Ssxb8	T	G	X: 8,689,823	H88P	probably damaging	Het
Svs1	C	A	6: 48,990,239	P707H	probably damaging	Het
Tas2r140	T	C	6: 133,054,871	E308G	probably benign	Het
Tdo2	A	T	3: 81,974,376	S40R	probably damaging	Het
Txlnb	A	G	10: 17,842,756	N445S	probably benign	Het
Ubap2l	A	T	3: 90,023,500	S413T	probably benign	Het
Vangl2	G	T	1: 172,004,786	T501N	probably damaging	Het
Vmn2r12	A	T	5: 109,092,854	I131N	probably benign	Het
Vwa1	C	T	4: 155,773,266	G25D	probably damaging	Het
Zfp185	A	T	X: 72,999,323	E138D	possibly damaging	Het

Other mutations in Tle4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01308:Tle4	APN	19	14468261	missense	probably benign	0.00
IGL01449:Tle4	APN	19	14465340	missense	probably benign	0.00
IGL01618:Tle4	APN	19	14544814	missense	probably benign	0.07
IGL01636:Tle4	APN	19	14452533	missense	probably damaging	0.97
IGL01750:Tle4	APN	19	14449789	missense	probably damaging	1.00
IGL02376:Tle4	APN	19	14594404	missense	probably damaging	1.00
BB006:Tle4	UTSW	19	14517880	missense	probably benign	0.09
BB016:Tle4	UTSW	19	14517880	missense	probably benign	0.09
R0006:Tle4	UTSW	19	14466714	splice site	probably benign
R1068:Tle4	UTSW	19	14452179	missense	probably damaging	1.00
R1594:Tle4	UTSW	19	14453606	nonsense	probably null
R1671:Tle4	UTSW	19	14453739	missense	probably damaging	1.00
R1891:Tle4	UTSW	19	14544786	critical splice donor site	probably null
R1951:Tle4	UTSW	19	14516357	critical splice donor site	probably null
R2068:Tle4	UTSW	19	14449749	nonsense	probably null
R3858:Tle4	UTSW	19	14468213	missense	probably benign	0.11
R3859:Tle4	UTSW	19	14468213	missense	probably benign	0.11
R3946:Tle4	UTSW	19	14597388	missense	probably damaging	0.98
R4357:Tle4	UTSW	19	14468261	missense	probably benign	0.00
R4395:Tle4	UTSW	19	14517938	missense	probably benign	0.20
R4491:Tle4	UTSW	19	14454865	missense	probably damaging	1.00
R4860:Tle4	UTSW	19	14464345	missense	probably benign	0.30
R4860:Tle4	UTSW	19	14464345	missense	probably benign	0.30
R5336:Tle4	UTSW	19	14454739	critical splice donor site	probably null
R5516:Tle4	UTSW	19	14454889	missense	probably damaging	0.99
R5611:Tle4	UTSW	19	14449795	missense	probably damaging	1.00
R6032:Tle4	UTSW	19	14452108	missense	possibly damaging	0.74
R6032:Tle4	UTSW	19	14452108	missense	possibly damaging	0.74
R6113:Tle4	UTSW	19	14595588	critical splice donor site	probably null
R6513:Tle4	UTSW	19	14451692	missense	probably damaging	0.99
R6995:Tle4	UTSW	19	14564453	critical splice acceptor site	probably null
R7175:Tle4	UTSW	19	14451707	missense	probably damaging	1.00
R7310:Tle4	UTSW	19	14517791	missense	probably benign	0.04
R7929:Tle4	UTSW	19	14517880	missense	probably benign	0.09
R8369:Tle4	UTSW	19	14452512	missense	probably benign	0.03
R8396:Tle4	UTSW	19	14454959	nonsense	probably null

Predicted Primers

Posted On

2014-01-15