Mutagenetix > Incidental Mutation

Incidental Mutation 'R5942:Entrep1'

460382

Institutional Source

Beutler Lab

Gene Symbol

Entrep1

Ensembl Gene

ENSMUSG00000071604

Gene Name

endosomal transmembrane epsin interactor 1

Synonyms

LOC381217, Fam189a2

MMRRC Submission

044134-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5942 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23950114-24008383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23963834 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 245 (V245A)

Ref Sequence

ENSEMBL: ENSMUSP00000093878 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096164]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096164
AA Change: V245A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: V245A

Domain	Start	End	E-Value	Type
Pfam:CD20	91	254	9.5e-33	PFAM
low complexity region	282	294	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC
low complexity region	455	469	N/A	INTRINSIC
low complexity region	567	584	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 96.7%
20x: 89.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	T	17: 46,623,333 (GRCm39)	V860M	probably benign	Het
Accs	A	T	2: 93,666,392 (GRCm39)	L432M	probably damaging	Het
Actrt3	T	A	3: 30,652,813 (GRCm39)	N94Y	possibly damaging	Het
Adamts18	T	C	8: 114,504,380 (GRCm39)	Q80R	probably benign	Het
Ccr8	G	T	9: 119,923,772 (GRCm39)	V296F	probably damaging	Het
Cep170	T	A	1: 176,583,985 (GRCm39)	E798V	probably damaging	Het
Cttnbp2	T	A	6: 18,448,439 (GRCm39)	E73D	probably damaging	Het
Cyp2a4	A	T	7: 26,010,129 (GRCm39)		probably null	Het
Dync2h1	A	T	9: 7,117,466 (GRCm39)	Y41*	probably null	Het
Enc1	G	A	13: 97,382,887 (GRCm39)	D466N	probably benign	Het
Enpp1	C	A	10: 24,551,966 (GRCm39)	E138*	probably null	Het
Ezh2	T	C	6: 47,554,516 (GRCm39)	R27G	possibly damaging	Het
Fut10	A	G	8: 31,691,485 (GRCm39)	N110S	possibly damaging	Het
Glt1d1	A	T	5: 127,721,534 (GRCm39)		probably null	Het
Gm14393	G	A	2: 174,903,689 (GRCm39)	Q73*	probably null	Het
Gpr156	C	T	16: 37,825,264 (GRCm39)	P494S	probably benign	Het
Has2	T	A	15: 56,531,192 (GRCm39)	K508*	probably null	Het
Hc	A	T	2: 34,918,137 (GRCm39)	C715*	probably null	Het
Hook2	C	T	8: 85,721,409 (GRCm39)		probably null	Het
Klhdc7b	A	C	15: 89,271,634 (GRCm39)	I839L	probably benign	Het
Kndc1	T	C	7: 139,516,792 (GRCm39)	L1584P	probably damaging	Het
Lamp1	T	C	8: 13,223,941 (GRCm39)	F358L	probably damaging	Het
Man2a1	A	G	17: 64,932,375 (GRCm39)	K154R	probably benign	Het
Mga	A	G	2: 119,777,440 (GRCm39)	I1871V	probably benign	Het
Mgmt	T	A	7: 136,723,219 (GRCm39)	D96E	probably benign	Het
Morc2a	C	A	11: 3,629,936 (GRCm39)	T424K	probably damaging	Het
Myo1g	A	G	11: 6,464,888 (GRCm39)	L462P	probably damaging	Het
Ncaph	C	A	2: 126,958,608 (GRCm39)		probably null	Het
Nlrc3	A	T	16: 3,767,293 (GRCm39)	D969E	probably damaging	Het
Nt5c3	A	T	6: 56,874,839 (GRCm39)		probably null	Het
Or4c12b	G	T	2: 89,646,684 (GRCm39)	E5*	probably null	Het
Or5ac15	A	T	16: 58,940,039 (GRCm39)	Y131*	probably null	Het
Or5d41	A	C	2: 88,054,916 (GRCm39)	I153M	probably benign	Het
Or8h8	T	C	2: 86,753,750 (GRCm39)	N42S	probably damaging	Het
Parp14	C	A	16: 35,659,737 (GRCm39)	M1628I	probably damaging	Het
Parp8	G	T	13: 117,005,969 (GRCm39)	P693Q	probably benign	Het
Parp9	A	G	16: 35,792,259 (GRCm39)	D485G	possibly damaging	Het
Pcdha1	T	A	18: 37,063,444 (GRCm39)	V36D	probably damaging	Het
Pcdhb5	C	T	18: 37,453,838 (GRCm39)	Q73*	probably null	Het
Pecam1	G	T	11: 106,552,809 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,660,277 (GRCm39)	I527V	probably benign	Het
Phf11	G	A	14: 59,497,593 (GRCm39)	P13S	probably benign	Het
Ppp4r4	T	A	12: 103,553,706 (GRCm39)	V388D	possibly damaging	Het
Psmc4	C	T	7: 27,746,480 (GRCm39)	V202I	probably damaging	Het
Ptx3	T	G	3: 66,127,484 (GRCm39)	M1R	probably null	Het
Rimbp3	A	G	16: 17,029,752 (GRCm39)	T1059A	probably benign	Het
Rmdn3	G	A	2: 118,978,058 (GRCm39)	A181V	probably damaging	Het
Rnase10	A	T	14: 51,246,735 (GRCm39)	M38L	probably benign	Het
Sec16b	T	A	1: 157,358,920 (GRCm39)	Y118N	probably damaging	Het
Sigmar1	T	C	4: 41,741,159 (GRCm39)	T32A	probably benign	Het
Srcap	A	G	7: 127,137,180 (GRCm39)	D954G	probably damaging	Het
Tfrc	A	G	16: 32,445,533 (GRCm39)	N618S	possibly damaging	Het
Tnrc6a	A	G	7: 122,785,888 (GRCm39)	D1028G	probably damaging	Het
Tns3	A	T	11: 8,385,860 (GRCm39)	D1379E	probably damaging	Het
Ttn	A	T	2: 76,580,505 (GRCm39)	C23463S	possibly damaging	Het
Ufl1	T	C	4: 25,250,619 (GRCm39)	T745A	probably benign	Het
Vmn1r231	T	A	17: 21,110,417 (GRCm39)	Y166F	possibly damaging	Het
Wbp1l	C	A	19: 46,642,869 (GRCm39)	T290K	probably damaging	Het
Wdr25	A	G	12: 108,864,392 (GRCm39)	N179S	probably benign	Het
Wdr62	G	A	7: 29,942,504 (GRCm39)	Q1035*	probably null	Het
Yif1a	C	T	19: 5,141,669 (GRCm39)	R196C	probably damaging	Het
Zfp352	A	T	4: 90,113,307 (GRCm39)	K482N	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het

Other mutations in Entrep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00485:Entrep1	APN	19	23,962,086 (GRCm39)	missense	probably damaging	1.00
IGL03162:Entrep1	APN	19	23,965,824 (GRCm39)	missense	probably damaging	1.00
R0285:Entrep1	UTSW	19	23,956,749 (GRCm39)	splice site	probably benign
R0613:Entrep1	UTSW	19	23,963,853 (GRCm39)	missense	probably damaging	1.00
R1078:Entrep1	UTSW	19	23,950,939 (GRCm39)	missense	probably benign	0.01
R1122:Entrep1	UTSW	19	23,952,756 (GRCm39)	missense	probably damaging	1.00
R1228:Entrep1	UTSW	19	23,956,829 (GRCm39)	missense	probably benign	0.00
R1445:Entrep1	UTSW	19	23,998,998 (GRCm39)	missense	probably damaging	1.00
R1469:Entrep1	UTSW	19	23,950,970 (GRCm39)	missense	probably benign	0.01
R1469:Entrep1	UTSW	19	23,950,970 (GRCm39)	missense	probably benign	0.01
R1547:Entrep1	UTSW	19	23,957,065 (GRCm39)	missense	probably damaging	1.00
R1657:Entrep1	UTSW	19	23,952,999 (GRCm39)	missense	probably damaging	1.00
R1710:Entrep1	UTSW	19	23,957,059 (GRCm39)	missense	probably damaging	1.00
R3701:Entrep1	UTSW	19	23,956,831 (GRCm39)	missense	probably benign	0.00
R4163:Entrep1	UTSW	19	23,953,002 (GRCm39)	missense	probably damaging	1.00
R4163:Entrep1	UTSW	19	23,952,993 (GRCm39)	missense	probably damaging	1.00
R4164:Entrep1	UTSW	19	23,953,002 (GRCm39)	missense	probably damaging	1.00
R4164:Entrep1	UTSW	19	23,952,993 (GRCm39)	missense	probably damaging	1.00
R4303:Entrep1	UTSW	19	23,953,002 (GRCm39)	missense	probably damaging	1.00
R4303:Entrep1	UTSW	19	23,952,993 (GRCm39)	missense	probably damaging	1.00
R4418:Entrep1	UTSW	19	23,956,799 (GRCm39)	missense	probably benign
R4558:Entrep1	UTSW	19	24,007,913 (GRCm39)	missense	probably damaging	0.99
R4559:Entrep1	UTSW	19	24,007,913 (GRCm39)	missense	probably damaging	0.99
R4866:Entrep1	UTSW	19	23,952,790 (GRCm39)	missense	possibly damaging	0.64
R4879:Entrep1	UTSW	19	23,953,019 (GRCm39)	critical splice acceptor site	probably null
R4900:Entrep1	UTSW	19	23,952,790 (GRCm39)	missense	possibly damaging	0.64
R4934:Entrep1	UTSW	19	23,950,789 (GRCm39)	makesense	probably null
R5530:Entrep1	UTSW	19	23,952,958 (GRCm39)	missense	probably benign	0.01
R6041:Entrep1	UTSW	19	23,962,193 (GRCm39)	missense	probably benign	0.41
R6207:Entrep1	UTSW	19	23,950,802 (GRCm39)	missense	probably damaging	1.00
R6572:Entrep1	UTSW	19	23,962,082 (GRCm39)	missense	possibly damaging	0.78
R6573:Entrep1	UTSW	19	23,965,866 (GRCm39)	missense	probably damaging	1.00
R6711:Entrep1	UTSW	19	23,955,463 (GRCm39)	missense	probably benign	0.02
R6952:Entrep1	UTSW	19	23,962,082 (GRCm39)	missense	possibly damaging	0.78
R7621:Entrep1	UTSW	19	23,972,168 (GRCm39)	missense	possibly damaging	0.68
R7968:Entrep1	UTSW	19	23,962,091 (GRCm39)	missense	probably damaging	1.00
R8482:Entrep1	UTSW	19	23,965,866 (GRCm39)	missense	probably damaging	1.00
R8676:Entrep1	UTSW	19	23,965,858 (GRCm39)	missense	probably damaging	1.00
R8989:Entrep1	UTSW	19	23,962,196 (GRCm39)	missense	probably damaging	0.99
R9090:Entrep1	UTSW	19	23,972,221 (GRCm39)	missense	possibly damaging	0.95
R9271:Entrep1	UTSW	19	23,972,221 (GRCm39)	missense	possibly damaging	0.95
R9687:Entrep1	UTSW	19	23,957,029 (GRCm39)	missense	probably damaging	0.99
X0018:Entrep1	UTSW	19	23,953,010 (GRCm39)	frame shift	probably null
X0020:Entrep1	UTSW	19	23,953,010 (GRCm39)	frame shift	probably null
X0027:Entrep1	UTSW	19	23,953,010 (GRCm39)	frame shift	probably null
X0065:Entrep1	UTSW	19	23,953,010 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTGCTTCCACACATAGTAGGG -3'
(R):5'- TATTTCACACTTGCATAAGCCCG -3'

Sequencing Primer
(F):5'- CTTCCACACATAGTAGGGATGGAC -3'
(R):5'- GATGCTATGTGACCCCCTG -3'

Posted On

2017-02-28