Mutagenetix > Incidental Mutation

Incidental Mutation 'R6381:Entr1'

515299

Institutional Source

Beutler Lab

Gene Symbol

Entr1

Ensembl Gene

ENSMUSG00000026927

Gene Name

endosome associated trafficking regulator 1

Synonyms

C330016H24Rik, Sdccag3, C630038K21Rik

MMRRC Submission

044530-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6381 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26272814-26279328 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 26275093 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028293] [ENSMUST00000028293] [ENSMUST00000028293] [ENSMUST00000035427] [ENSMUST00000076431] [ENSMUST00000077983] [ENSMUST00000077983] [ENSMUST00000077983] [ENSMUST00000114093] [ENSMUST00000114100] [ENSMUST00000114100] [ENSMUST00000114100] [ENSMUST00000114102] [ENSMUST00000114102] [ENSMUST00000114102] [ENSMUST00000114115] [ENSMUST00000139738]

AlphaFold

A2AIW0

Predicted Effect

probably null
Transcript: ENSMUST00000028293

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028293

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000028293

SMART Domains

Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	209	321	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000035427

SMART Domains

Protein: ENSMUSP00000041767
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
low complexity region	33	52	N/A	INTRINSIC
low complexity region	60	72	N/A	INTRINSIC
coiled coil region	93	119	N/A	INTRINSIC
low complexity region	200	212	N/A	INTRINSIC
SANT	219	290	2.37e1	SMART
SANT	293	343	4.38e-10	SMART
SANT	345	397	3.05e-9	SMART
SANT	400	449	8.24e-15	SMART
SANT	452	501	7.8e-16	SMART
low complexity region	516	547	N/A	INTRINSIC
Blast:SANT	550	753	1e-23	BLAST
low complexity region	893	909	N/A	INTRINSIC
low complexity region	925	947	N/A	INTRINSIC
low complexity region	971	983	N/A	INTRINSIC
low complexity region	988	1007	N/A	INTRINSIC
low complexity region	1157	1169	N/A	INTRINSIC
low complexity region	1176	1190	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076431

SMART Domains

Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	76	226	4.5e-47	PFAM
Pfam:Peptidase_M16_C	231	430	4.1e-43	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000077983

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000077983

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000077983

SMART Domains

Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	186	298	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114093

SMART Domains

Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M16	76	226	1.6e-47	PFAM
Pfam:Peptidase_M16_C	231	420	9.6e-39	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114100

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114100

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114100

SMART Domains

Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	236	348	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114102

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114102

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114102

SMART Domains

Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
coiled coil region	259	371	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134737

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132574

Predicted Effect

probably benign
Transcript: ENSMUST00000114115

SMART Domains

Protein: ENSMUSP00000109750
Gene: ENSMUSG00000036281

Domain	Start	End	E-Value	Type
coiled coil region	3	29	N/A	INTRINSIC
low complexity region	41	60	N/A	INTRINSIC
low complexity region	68	80	N/A	INTRINSIC
coiled coil region	101	127	N/A	INTRINSIC
low complexity region	208	220	N/A	INTRINSIC
SANT	227	298	2.37e1	SMART
SANT	301	351	4.38e-10	SMART
SANT	353	405	3.05e-9	SMART
SANT	408	457	8.24e-15	SMART
SANT	460	509	7.8e-16	SMART
low complexity region	524	555	N/A	INTRINSIC
Blast:SANT	558	761	1e-23	BLAST
low complexity region	901	917	N/A	INTRINSIC
low complexity region	933	955	N/A	INTRINSIC
low complexity region	979	991	N/A	INTRINSIC
low complexity region	996	1015	N/A	INTRINSIC
low complexity region	1165	1177	N/A	INTRINSIC
low complexity region	1184	1198	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134871

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133737

Predicted Effect

probably benign
Transcript: ENSMUST00000139738

SMART Domains

Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135155

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150121

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152375

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149850

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155643

Meta Mutation Damage Score

0.9491

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.2%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,600,788 (GRCm39)	M365L	probably damaging	Het
Aars2	A	G	17: 45,829,471 (GRCm39)	E786G	probably benign	Het
Adamts12	G	T	15: 11,257,080 (GRCm39)	V478F	possibly damaging	Het
Akr1c21	T	A	13: 4,624,183 (GRCm39)	D12E	probably damaging	Het
Aplf	A	T	6: 87,635,959 (GRCm39)	M118K	probably damaging	Het
Apobec1	A	G	6: 122,555,890 (GRCm39)	L189P	probably damaging	Het
BC061237	A	G	14: 44,741,713 (GRCm39)	Q152R	possibly damaging	Het
Bche	A	G	3: 73,609,132 (GRCm39)	I98T	probably benign	Het
Cc2d2a	G	T	5: 43,873,118 (GRCm39)	R983L	possibly damaging	Het
Ccnd3	T	C	17: 47,816,149 (GRCm39)		probably benign	Het
Cd74	G	T	18: 60,944,435 (GRCm39)	C215F	probably damaging	Het
Cep97	C	T	16: 55,742,534 (GRCm39)	A138T	probably damaging	Het
Ces1e	T	A	8: 93,944,206 (GRCm39)	N204I	probably damaging	Het
Dicer1	T	C	12: 104,662,721 (GRCm39)	D1620G	probably benign	Het
Dnah17	A	G	11: 118,020,011 (GRCm39)	V12A	probably benign	Het
Dstyk	T	A	1: 132,384,503 (GRCm39)		probably null	Het
Elapor1	T	C	3: 108,389,130 (GRCm39)	K222E	possibly damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Gm10570	G	T	4: 130,202,021 (GRCm39)		probably benign	Het
Gm7145	C	T	1: 117,913,669 (GRCm39)	Q184*	probably null	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Gtse1	G	A	15: 85,746,349 (GRCm39)	R55H	probably benign	Het
Hdac4	G	T	1: 91,912,247 (GRCm39)	Q381K	possibly damaging	Het
Ifit3b	T	C	19: 34,589,871 (GRCm39)	I349T	probably benign	Het
Inpp5a	A	T	7: 138,980,589 (GRCm39)	D9V	probably benign	Het
Irs1	T	C	1: 82,265,405 (GRCm39)	N937S	possibly damaging	Het
Kcna4	T	C	2: 107,125,317 (GRCm39)	M17T	probably benign	Het
Lipa	T	A	19: 34,502,146 (GRCm39)	M33L	probably benign	Het
Marchf6	G	T	15: 31,467,838 (GRCm39)	Q790K	probably benign	Het
Mccc1	G	A	3: 36,030,876 (GRCm39)	P397S	probably benign	Het
Mrgprb2	T	C	7: 48,202,138 (GRCm39)	I196V	probably benign	Het
Myh15	T	A	16: 48,921,844 (GRCm39)	S463R	probably damaging	Het
Nab2	T	C	10: 127,500,220 (GRCm39)	K291E	probably damaging	Het
Neto2	T	C	8: 86,369,138 (GRCm39)	T294A	probably damaging	Het
Nkx1-1	T	C	5: 33,591,320 (GRCm39)	M1V	probably null	Het
Or2h2	C	T	17: 37,396,977 (GRCm39)	V27I	probably benign	Het
Pla2g4c	C	T	7: 13,077,933 (GRCm39)	T357I	probably benign	Het
Psmd2	A	G	16: 20,474,023 (GRCm39)	E242G	probably benign	Het
Rnase12	A	C	14: 51,294,551 (GRCm39)	Y43D	probably damaging	Het
Rpl18	T	A	7: 45,369,016 (GRCm39)	F58I	probably damaging	Het
Ryr1	T	G	7: 28,774,682 (GRCm39)	M2313L	possibly damaging	Het
Scn4a	G	T	11: 106,211,137 (GRCm39)	Q1627K	probably damaging	Het
Scnn1g	A	G	7: 121,366,722 (GRCm39)	S640G	probably benign	Het
Sdr9c7	T	A	10: 127,739,542 (GRCm39)	M219K	probably benign	Het
Soat1	A	T	1: 156,263,373 (GRCm39)	M392K	probably damaging	Het
Spata18	G	T	5: 73,832,559 (GRCm39)	K337N	probably damaging	Het
Supt16	A	G	14: 52,417,003 (GRCm39)	V325A	probably benign	Het
Syt2	A	G	1: 134,674,588 (GRCm39)	E342G	probably damaging	Het
Tars2	A	T	3: 95,661,799 (GRCm39)	L37*	probably null	Het
Tep1	T	C	14: 51,082,888 (GRCm39)	D1040G	probably damaging	Het
Tmc8	A	T	11: 117,682,426 (GRCm39)	S613C	probably null	Het
Top3a	C	T	11: 60,634,849 (GRCm39)	C660Y	probably damaging	Het
Tpsg1	C	T	17: 25,591,543 (GRCm39)	R48C	probably damaging	Het
Vmn2r57	T	C	7: 41,078,242 (GRCm39)	N72S	probably benign	Het
Whrn	G	A	4: 63,390,921 (GRCm39)	T269I	probably benign	Het
Zfp759	T	A	13: 67,286,969 (GRCm39)	Y173*	probably null	Het

Other mutations in Entr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02480:Entr1	APN	2	26,275,132 (GRCm39)	missense	probably damaging	0.98
IGL03293:Entr1	APN	2	26,277,688 (GRCm39)	splice site	probably benign
R0385:Entr1	UTSW	2	26,277,671 (GRCm39)	missense	possibly damaging	0.82
R1707:Entr1	UTSW	2	26,277,618 (GRCm39)	missense	probably damaging	1.00
R2035:Entr1	UTSW	2	26,273,639 (GRCm39)	missense	probably damaging	1.00
R3743:Entr1	UTSW	2	26,278,655 (GRCm39)	intron	probably benign
R3977:Entr1	UTSW	2	26,274,805 (GRCm39)	missense	probably damaging	1.00
R4592:Entr1	UTSW	2	26,278,909 (GRCm39)	unclassified	probably benign
R5389:Entr1	UTSW	2	26,275,559 (GRCm39)	missense	probably damaging	1.00
R6030:Entr1	UTSW	2	26,276,983 (GRCm39)	missense	possibly damaging	0.71
R6030:Entr1	UTSW	2	26,276,983 (GRCm39)	missense	possibly damaging	0.71
R8277:Entr1	UTSW	2	26,274,778 (GRCm39)	missense	probably damaging	1.00
R9729:Entr1	UTSW	2	26,278,645 (GRCm39)	missense	unknown
R9752:Entr1	UTSW	2	26,276,990 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAGCCTCTGCATCACGAC -3'
(R):5'- CTGTGAAAGGGTTCTCTATCGG -3'

Sequencing Primer
(F):5'- ACACATCTGGACACGGGGAC -3'
(R):5'- CACCCATGGGCAGAGGAATC -3'

Posted On

2018-05-04