Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Tle4'

84556

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 #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

14448072-14598051 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14465340 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 339 (S339P)

Ref Sequence

ENSEMBL: ENSMUSP00000126249 (fasta)

Gene Model

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

AlphaFold

Q62441

Predicted Effect

probably benign
Transcript: ENSMUST00000052011
AA Change: S339P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000057527
Gene: ENSMUSG00000024642
AA Change: S339P

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: S339P

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000126249
Gene: ENSMUSG00000024642
AA Change: S339P

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 72,444,849	L33F	probably benign	Het
Actr8	T	C	14: 29,990,970		probably null	Het
Aldh16a1	C	A	7: 45,141,967	A105S	probably damaging	Het
Angpt2	T	C	8: 18,710,625	T154A	probably benign	Het
BC051665	A	G	13: 60,782,704	V278A	probably damaging	Het
Cap1	T	C	4: 122,860,187	T458A	probably damaging	Het
Clcn3	A	T	8: 60,934,598	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,933,553	D408G	probably benign	Het
D430042O09Rik	T	A	7: 125,870,685	V1442D	probably damaging	Het
Fam217b	T	A	2: 178,421,150	S302R	probably damaging	Het
Fcho2	A	T	13: 98,789,807	D89E	probably benign	Het
Fnip1	C	T	11: 54,499,508	R434C	probably damaging	Het
Gga3	G	A	11: 115,589,102	T261M	probably damaging	Het
Gm21985	T	C	2: 112,339,396	F292L	probably damaging	Het
Gm43638	A	T	5: 87,486,215	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,680,764	G68E	probably damaging	Het
Lpcat2	G	A	8: 92,871,147	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,638,614	A1984T	possibly damaging	Het
Npy4r	T	A	14: 34,146,365	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,805,594	H840Q	probably damaging	Het
Olfr844	G	A	9: 19,319,233	G233D	probably damaging	Het
Osbpl2	G	T	2: 180,145,194		probably benign	Het
Pclo	T	A	5: 14,678,516		probably benign	Het
Pold4	T	C	19: 4,232,867		probably benign	Het
Ppp1r16a	A	G	15: 76,694,294		probably benign	Het
Pprc1	C	T	19: 46,065,232		probably benign	Het
Prkcg	A	G	7: 3,319,619	D343G	probably benign	Het
Scaf11	A	C	15: 96,419,126	S852R	probably benign	Het
Slc31a2	C	T	4: 62,292,696	T22I	probably damaging	Het
Sox30	T	A	11: 45,981,342	D341E	probably damaging	Het
Tsg101	A	T	7: 46,908,925	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,738,803	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,654,147	S142T	probably benign	Het
Ubr4	C	A	4: 139,412,736	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,338,653	P172Q	probably damaging	Het
Usp12	T	C	5: 146,754,440	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,552,932	M287L	probably benign	Het
Vwa8	C	T	14: 79,182,988	Q1710*	probably null	Het
Wdfy4	T	A	14: 33,104,037	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,463,305	T145A	probably benign	Het
Zfp697	T	C	3: 98,427,530	C204R	probably 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
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
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

2013-11-11