Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02929:Tle5'

364031

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tle5

Ensembl Gene

ENSMUSG00000054452

Gene Name

TLE family member 5, transcriptional modulator

Synonyms

AES, Aes, Grg, Grg5

Accession Numbers

Essential gene?

Probably essential (E-score: 0.882) question?

Stock #

IGL02929

Quality Score

Status

Chromosome

Chromosomal Location

81395322-81402196 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 81400672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002518 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002518] [ENSMUST00000002518] [ENSMUST00000002518]

AlphaFold

P63002

Predicted Effect

probably null
Transcript: ENSMUST00000002518

SMART Domains

Protein: ENSMUSP00000002518
Gene: ENSMUSG00000054452

Domain	Start	End	E-Value	Type
Pfam:TLE_N	2	132	1.3e-75	PFAM
low complexity region	156	171	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000002518

SMART Domains

Protein: ENSMUSP00000002518
Gene: ENSMUSG00000054452

Domain	Start	End	E-Value	Type
Pfam:TLE_N	2	132	1.3e-75	PFAM
low complexity region	156	171	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000002518

SMART Domains

Protein: ENSMUSP00000002518
Gene: ENSMUSG00000054452

Domain	Start	End	E-Value	Type
Pfam:TLE_N	2	132	1.3e-75	PFAM
low complexity region	156	171	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217807

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218574

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218611

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218690

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219870

Predicted Effect

probably benign
Transcript: ENSMUST00000220348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220282

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220368

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a protein that belongs to the Aes (amino-terminal enhancer of split) subgroup of the Groucho/transducin-like Enhancer of split (TLE) family of proteins that function as transcriptional corepressors. The encoded protein plays a role in neurological development and cell-fate determination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele display altered mating frequency, abnormal pituitary gland growth and development, and varying degrees of postnatal growth retardation leading to premature death among severely runted individuals. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A330070K13Rik	A	G	5: 130,413,252 (GRCm39)		probably null	Het
Abcb5	T	C	12: 118,908,674 (GRCm39)	Y90C	probably damaging	Het
Accs	T	C	2: 93,674,566 (GRCm39)	D112G	probably damaging	Het
Adam32	C	A	8: 25,362,659 (GRCm39)	V13L	possibly damaging	Het
Adgrb3	A	G	1: 25,592,905 (GRCm39)	V294A	probably benign	Het
Agt	G	T	8: 125,283,829 (GRCm39)	A430E	probably benign	Het
Agxt2	T	C	15: 10,388,379 (GRCm39)		probably benign	Het
Atp2a1	A	T	7: 126,056,116 (GRCm39)	I235N	probably damaging	Het
Atp8b1	T	C	18: 64,694,733 (GRCm39)	I516M	possibly damaging	Het
Atrx	T	C	X: 104,923,512 (GRCm39)		probably null	Het
Brcc3	T	C	X: 74,479,105 (GRCm39)	V117A	possibly damaging	Het
Casp8ap2	T	C	4: 32,624,105 (GRCm39)		probably benign	Het
Ceacam3	T	A	7: 16,892,115 (GRCm39)	V286D	probably damaging	Het
Cpb1	T	C	3: 20,329,630 (GRCm39)	D32G	probably benign	Het
Cpsf1	C	A	15: 76,486,327 (GRCm39)		probably null	Het
Dnai4	C	T	4: 102,917,188 (GRCm39)	W552*	probably null	Het
Dock2	A	T	11: 34,218,048 (GRCm39)	V1174E	probably damaging	Het
Dqx1	A	G	6: 83,037,465 (GRCm39)		probably benign	Het
Ercc1	T	C	7: 19,089,288 (GRCm39)		probably null	Het
Fn1	A	G	1: 71,634,821 (GRCm39)		probably null	Het
Garre1	A	T	7: 33,944,507 (GRCm39)	M75K	possibly damaging	Het
Ice1	A	G	13: 70,744,322 (GRCm39)	L2087P	probably damaging	Het
Ift122	A	G	6: 115,879,838 (GRCm39)	D612G	probably damaging	Het
Igkv6-25	A	G	6: 70,192,929 (GRCm39)	Y112C	probably damaging	Het
Kit	C	A	5: 75,801,429 (GRCm39)	P572Q	probably damaging	Het
Kras	A	G	6: 145,177,815 (GRCm39)		probably benign	Het
Ltv1	T	C	10: 13,067,970 (GRCm39)	K6R	possibly damaging	Het
Man1a	C	T	10: 53,801,531 (GRCm39)	V443I	probably benign	Het
Mat2b	A	C	11: 40,575,540 (GRCm39)	D154E	probably benign	Het
Mtrf1	A	G	14: 79,640,273 (GRCm39)	K143E	probably benign	Het
Myh13	A	C	11: 67,257,991 (GRCm39)	I95L	probably damaging	Het
Myo7b	A	T	18: 32,127,978 (GRCm39)	D571E	probably benign	Het
Nek10	T	A	14: 14,821,119 (GRCm38)	D28E	possibly damaging	Het
Npm2	T	A	14: 70,889,678 (GRCm39)		probably null	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Plcb2	G	A	2: 118,543,715 (GRCm39)		probably benign	Het
Ppp1r3a	A	G	6: 14,719,810 (GRCm39)	M368T	probably benign	Het
Rnf123	G	T	9: 107,946,275 (GRCm39)	T300K	probably benign	Het
Sbspon	A	G	1: 15,954,069 (GRCm39)		probably benign	Het
Slc52a2	G	A	15: 76,424,776 (GRCm39)	C338Y	probably benign	Het
Tdrd6	T	A	17: 43,940,604 (GRCm39)	Q148L	possibly damaging	Het
Trpc3	T	A	3: 36,692,623 (GRCm39)	K790*	probably null	Het
Ushbp1	C	T	8: 71,847,120 (GRCm39)	A171T	probably damaging	Het
Usp32	T	C	11: 84,879,198 (GRCm39)	T1504A	probably benign	Het

Other mutations in Tle5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02642:Tle5	APN	10	81,397,126 (GRCm39)	missense	possibly damaging	0.73
R0092:Tle5	UTSW	10	81,397,054 (GRCm39)	missense	possibly damaging	0.69
R2402:Tle5	UTSW	10	81,400,712 (GRCm39)	missense	possibly damaging	0.68
R3196:Tle5	UTSW	10	81,401,474 (GRCm39)	missense	probably benign
R4091:Tle5	UTSW	10	81,401,418 (GRCm39)	missense	probably damaging	1.00
R5999:Tle5	UTSW	10	81,397,098 (GRCm39)	missense	probably damaging	1.00
R7854:Tle5	UTSW	10	81,401,481 (GRCm39)	missense	probably damaging	0.97
R8793:Tle5	UTSW	10	81,397,152 (GRCm39)	critical splice donor site	probably null
R8875:Tle5	UTSW	10	81,400,534 (GRCm39)	missense	probably benign	0.02
R9374:Tle5	UTSW	10	81,399,988 (GRCm39)	missense	probably damaging	0.97
R9499:Tle5	UTSW	10	81,399,988 (GRCm39)	missense	probably damaging	0.97
R9551:Tle5	UTSW	10	81,399,988 (GRCm39)	missense	probably damaging	0.97

Posted On

2015-12-18