Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01618:Tle4'

92447

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tle4

Ensembl Gene

ENSMUSG00000024642

Gene Name

transducin-like enhancer of split 4

Synonyms

Bce1, ESTM14, 5730411M05Rik, Grg4, ESTM13

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01618

Quality Score

Status

Chromosome

Chromosomal Location

14448072-14598051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 14544814 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 122 (M122L)

Ref Sequence

ENSEMBL: ENSMUSP00000057527 (fasta)

Gene Model

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

AlphaFold

Q62441

Predicted Effect

probably benign
Transcript: ENSMUST00000052011
AA Change: M122L

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: M122L

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: M122L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: M122L

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl5	C	T	19: 55,272,833	A74V	probably benign	Het
Adh4	C	T	3: 138,429,027		probably benign	Het
Aldh1a3	G	A	7: 66,409,230	T239I	probably damaging	Het
Anxa9	A	G	3: 95,300,536		probably null	Het
Atp5k	C	A	5: 108,434,033	K28N	probably damaging	Het
C9	T	G	15: 6,459,668	Y169D	probably benign	Het
Cbwd1	T	C	19: 24,940,776	E210G	possibly damaging	Het
Chat	T	A	14: 32,446,892		probably null	Het
Csmd3	C	T	15: 48,011,083	E706K	probably benign	Het
Ctbs	A	G	3: 146,455,112	K145E	probably benign	Het
Dennd5a	A	G	7: 109,934,095	M156T	probably damaging	Het
Dhx29	A	G	13: 112,965,222	Y1275C	probably damaging	Het
Dpp10	A	T	1: 123,367,867	F517Y	probably benign	Het
Dst	G	A	1: 34,188,909	W1536*	probably null	Het
Galc	T	C	12: 98,252,081	T171A	possibly damaging	Het
Gsap	T	C	5: 21,226,248	I190T	probably damaging	Het
Hars2	A	T	18: 36,789,577	R388*	probably null	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Itgbl1	T	A	14: 123,827,799	S122T	possibly damaging	Het
Jhy	G	T	9: 40,960,964	T83K	possibly damaging	Het
Kcne4	A	T	1: 78,817,808	M58L	possibly damaging	Het
Lamc3	T	A	2: 31,912,107	I509N	probably damaging	Het
Lpar6	T	C	14: 73,239,066	S156P	probably damaging	Het
Man2c1	T	C	9: 57,141,556		probably benign	Het
March11	T	C	15: 26,409,199	I328T	possibly damaging	Het
Mc3r	T	A	2: 172,249,370	C171S	probably benign	Het
Muc4	A	T	16: 32,756,627	Q2167L	unknown	Het
Myom1	T	C	17: 71,099,993	V1135A	possibly damaging	Het
Nectin1	C	T	9: 43,791,258	R101*	probably null	Het
Nxpe4	T	C	9: 48,394,140	S277P	possibly damaging	Het
Olfr1152	A	C	2: 87,868,144	D51A	probably damaging	Het
Olfr1459	T	A	19: 13,146,250	K136N	probably benign	Het
Olfr395	T	C	11: 73,907,477	N5S	probably damaging	Het
Olfr437	T	A	6: 43,167,703	V215E	probably damaging	Het
Olfr584	G	A	7: 103,086,375	V281I	probably benign	Het
Pappa2	G	T	1: 158,857,378	N730K	probably damaging	Het
Prepl	A	G	17: 85,066,281	V586A	probably damaging	Het
Prrc2a	T	C	17: 35,149,553	Y2098C	probably damaging	Het
Rdh16	G	A	10: 127,801,307	C37Y	probably damaging	Het
Rnd1	A	T	15: 98,673,865	M100K	probably benign	Het
Sema3c	A	G	5: 17,672,506	N204D	probably damaging	Het
Susd4	A	G	1: 182,858,461		probably null	Het
Taar7f	G	T	10: 24,050,341	A278S	possibly damaging	Het
Trim9	C	T	12: 70,248,351	V662I	probably benign	Het
Vmn2r10	C	A	5: 109,002,479	C233F	probably damaging	Het
Vmn2r98	A	C	17: 19,065,259	T114P	possibly damaging	Het
Zfyve21	C	T	12: 111,827,813		probably benign	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
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
R1174:Tle4	UTSW	19	14468262	missense	probably benign
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
R8847:Tle4	UTSW	19	14516373	nonsense	probably null
R9145:Tle4	UTSW	19	14468219	missense	probably benign
R9279:Tle4	UTSW	19	14452526	missense	probably damaging	1.00
R9327:Tle4	UTSW	19	14596785	missense	probably damaging	1.00
R9786:Tle4	UTSW	19	14517940	missense	probably benign	0.01

Posted On

2013-12-09