Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02066:Entrep3'

185662

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Entrep3

Ensembl Gene

ENSMUSG00000032657

Gene Name

endosomal transmembrane epsin interactor 3

Synonyms

Fam189b, 1110013L07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

IGL02066

Quality Score

Status

Chromosome

Chromosomal Location

89090450-89096602 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 89095903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 545 (R545*)

Ref Sequence

ENSEMBL: ENSMUSP00000113579 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041913] [ENSMUST00000117278] [ENSMUST00000119707] [ENSMUST00000127982] [ENSMUST00000147696] [ENSMUST00000140473]

AlphaFold

Q5HZJ5

Predicted Effect

probably null
Transcript: ENSMUST00000041913
AA Change: R623*

SMART Domains

Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: R623*

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	8e-36	PFAM
low complexity region	243	254	N/A	INTRINSIC
low complexity region	390	408	N/A	INTRINSIC
low complexity region	445	463	N/A	INTRINSIC
low complexity region	471	490	N/A	INTRINSIC
low complexity region	628	649	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000117278
AA Change: R604*

SMART Domains

Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: R604*

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
transmembrane domain	34	56	N/A	INTRINSIC
Pfam:CD20	74	177	7.3e-13	PFAM
low complexity region	224	235	N/A	INTRINSIC
low complexity region	371	389	N/A	INTRINSIC
low complexity region	426	444	N/A	INTRINSIC
low complexity region	452	471	N/A	INTRINSIC
low complexity region	609	630	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000119707
AA Change: R545*

SMART Domains

Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: R545*

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	1.9e-18	PFAM
low complexity region	312	330	N/A	INTRINSIC
low complexity region	367	385	N/A	INTRINSIC
low complexity region	393	412	N/A	INTRINSIC
low complexity region	550	571	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125501

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126115

Predicted Effect

probably benign
Transcript: ENSMUST00000127982

SMART Domains

Protein: ENSMUSP00000114855
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	77	6.7e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136209

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155033

Predicted Effect

probably benign
Transcript: ENSMUST00000147696

SMART Domains

Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657

Domain	Start	End	E-Value	Type
low complexity region	3	22	N/A	INTRINSIC
Pfam:CD20	36	196	1.9e-30	PFAM
low complexity region	242	253	N/A	INTRINSIC
low complexity region	324	349	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140473

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	A	6: 121,626,854 (GRCm39)	C569S	probably damaging	Het
Adck5	T	C	15: 76,479,406 (GRCm39)	V487A	probably damaging	Het
Agfg1	A	G	1: 82,871,279 (GRCm39)	T483A	probably damaging	Het
Akr1c12	T	C	13: 4,326,236 (GRCm39)	T82A	probably damaging	Het
Ano2	T	A	6: 125,667,702 (GRCm39)	L6Q	probably benign	Het
Anp32a	G	A	9: 62,284,615 (GRCm39)		probably benign	Het
Bltp2	G	A	11: 78,164,058 (GRCm39)	R1133H	probably damaging	Het
Cep250	C	A	2: 155,818,441 (GRCm39)	A871D	probably damaging	Het
Chl1	T	C	6: 103,675,185 (GRCm39)	V624A	probably benign	Het
Clasp1	G	A	1: 118,492,990 (GRCm39)		probably null	Het
Clca3a2	T	G	3: 144,519,216 (GRCm39)	D320A	probably benign	Het
Cnot9	A	G	1: 74,566,212 (GRCm39)	Q201R	possibly damaging	Het
Cox4i2	C	T	2: 152,602,602 (GRCm39)	R99C	probably damaging	Het
Csmd1	A	T	8: 15,976,594 (GRCm39)	F2875I	probably damaging	Het
Dpagt1	A	G	9: 44,243,203 (GRCm39)	Y246C	probably damaging	Het
Dsc1	A	G	18: 20,241,860 (GRCm39)		probably benign	Het
Eef1d	G	A	15: 75,768,704 (GRCm39)	T464I	probably benign	Het
Efna2	C	T	10: 80,024,500 (GRCm39)		probably benign	Het
Etaa1	C	A	11: 17,896,687 (GRCm39)	V477L	probably benign	Het
Fam83d	C	T	2: 158,627,793 (GRCm39)	T494M	probably benign	Het
Fbxo24	C	T	5: 137,611,132 (GRCm39)	V553M	probably damaging	Het
Gal3st2	A	G	1: 93,801,379 (GRCm39)	T12A	probably damaging	Het
Gba2	G	A	4: 43,570,175 (GRCm39)	T373I	probably benign	Het
Kitl	T	A	10: 99,912,744 (GRCm39)	C154S	probably damaging	Het
Lrp1b	A	T	2: 41,001,091 (GRCm39)	C2044*	probably null	Het
Lrp6	G	T	6: 134,427,900 (GRCm39)	S1564*	probably null	Het
Manea	A	T	4: 26,340,965 (GRCm39)		probably benign	Het
Myt1	T	C	2: 181,438,982 (GRCm39)	L168P	probably damaging	Het
Notch1	T	C	2: 26,350,408 (GRCm39)	E2244G	possibly damaging	Het
Nsd3	T	G	8: 26,203,515 (GRCm39)	V1343G	probably damaging	Het
Nup155	T	C	15: 8,187,250 (GRCm39)		probably benign	Het
Obox6	T	C	7: 15,568,628 (GRCm39)	I83V	probably benign	Het
Or12k5	A	T	2: 36,895,321 (GRCm39)	F102I	probably damaging	Het
Or13a24	A	T	7: 140,154,413 (GRCm39)	T116S	possibly damaging	Het
Pdgfra	T	C	5: 75,331,241 (GRCm39)	V282A	possibly damaging	Het
Pkd1l2	A	G	8: 117,736,303 (GRCm39)		probably benign	Het
Pmfbp1	A	T	8: 110,268,365 (GRCm39)	I971F	possibly damaging	Het
Ppp6c	T	C	2: 39,089,683 (GRCm39)	T199A	probably benign	Het
Ptpra	A	G	2: 30,333,308 (GRCm39)	T3A	possibly damaging	Het
Rb1	A	T	14: 73,435,974 (GRCm39)	M897K	probably benign	Het
Rptn	A	C	3: 93,304,436 (GRCm39)	S590R	probably benign	Het
Rreb1	A	G	13: 38,115,482 (GRCm39)	D947G	probably benign	Het
Samd9l	T	C	6: 3,376,575 (GRCm39)	T229A	probably damaging	Het
Slc5a9	A	T	4: 111,744,719 (GRCm39)	M423K	probably damaging	Het
Slc6a12	T	A	6: 121,329,015 (GRCm39)	I111N	probably damaging	Het
Slc6a15	T	A	10: 103,252,519 (GRCm39)	L561I	probably damaging	Het
Spag5	A	G	11: 78,195,358 (GRCm39)	N222D	probably benign	Het
Spp2	G	A	1: 88,344,965 (GRCm39)	M54I	probably benign	Het
Sptbn4	T	C	7: 27,063,940 (GRCm39)	E847G	possibly damaging	Het
Timd2	T	A	11: 46,569,050 (GRCm39)	N203Y	probably damaging	Het
Togaram1	G	T	12: 65,030,195 (GRCm39)	D1000Y	probably damaging	Het
Usp47	C	T	7: 111,663,604 (GRCm39)	R258C	probably damaging	Het
Uts2r	A	C	11: 121,051,523 (GRCm39)	D129A	probably damaging	Het
Vmn2r102	G	A	17: 19,914,191 (GRCm39)	M585I	probably benign	Het
Vmn2r77	A	T	7: 86,452,836 (GRCm39)	R518*	probably null	Het
Wdfy4	C	T	14: 32,871,523 (GRCm39)	R296K	probably benign	Het
Xirp2	A	T	2: 67,356,415 (GRCm39)	K3725N	probably benign	Het
Xntrpc	T	C	7: 101,727,036 (GRCm39)	S142P	probably benign	Het
Zfat	T	C	15: 68,052,678 (GRCm39)	H372R	probably damaging	Het

Other mutations in Entrep3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01382:Entrep3	APN	3	89,095,733 (GRCm39)	missense	probably damaging	1.00
IGL01554:Entrep3	APN	3	89,092,888 (GRCm39)	missense	probably damaging	1.00
IGL02061:Entrep3	APN	3	89,095,903 (GRCm39)	nonsense	probably null
IGL02064:Entrep3	APN	3	89,095,903 (GRCm39)	nonsense	probably null
IGL02065:Entrep3	APN	3	89,095,903 (GRCm39)	nonsense	probably null
IGL02067:Entrep3	APN	3	89,095,903 (GRCm39)	nonsense	probably null
IGL02068:Entrep3	APN	3	89,095,903 (GRCm39)	nonsense	probably null
IGL02890:Entrep3	APN	3	89,094,089 (GRCm39)	missense	possibly damaging	0.66
R1219:Entrep3	UTSW	3	89,091,155 (GRCm39)	missense	probably damaging	0.99
R1634:Entrep3	UTSW	3	89,095,401 (GRCm39)	missense	probably damaging	1.00
R1645:Entrep3	UTSW	3	89,094,154 (GRCm39)	missense	possibly damaging	0.65
R2043:Entrep3	UTSW	3	89,092,874 (GRCm39)	missense	probably damaging	1.00
R4176:Entrep3	UTSW	3	89,091,754 (GRCm39)	missense	probably damaging	1.00
R4379:Entrep3	UTSW	3	89,093,064 (GRCm39)	missense	probably damaging	1.00
R5972:Entrep3	UTSW	3	89,093,115 (GRCm39)	missense	probably damaging	1.00
R7617:Entrep3	UTSW	3	89,092,278 (GRCm39)	missense	probably damaging	1.00
R7831:Entrep3	UTSW	3	89,091,520 (GRCm39)	splice site	probably null
R7867:Entrep3	UTSW	3	89,093,083 (GRCm39)	nonsense	probably null
R8099:Entrep3	UTSW	3	89,091,250 (GRCm39)	missense	probably damaging	1.00
R8201:Entrep3	UTSW	3	89,093,115 (GRCm39)	missense	probably damaging	0.99
R8314:Entrep3	UTSW	3	89,095,453 (GRCm39)	critical splice donor site	probably null
R8553:Entrep3	UTSW	3	89,094,153 (GRCm39)	missense	possibly damaging	0.69
R8767:Entrep3	UTSW	3	89,091,725 (GRCm39)	intron	probably benign
R9048:Entrep3	UTSW	3	89,093,048 (GRCm39)	missense	probably damaging	1.00
R9407:Entrep3	UTSW	3	89,094,645 (GRCm39)	missense	possibly damaging	0.74
R9423:Entrep3	UTSW	3	89,092,007 (GRCm39)	missense	probably damaging	1.00
R9593:Entrep3	UTSW	3	89,091,199 (GRCm39)	missense	probably benign	0.30
R9599:Entrep3	UTSW	3	89,094,099 (GRCm39)	missense	possibly damaging	0.68

Posted On

2014-05-07