Mutagenetix > Incidental Mutation

Incidental Mutation 'R6041:Entrep1'

483587

Institutional Source

Beutler Lab

Gene Symbol

Entrep1

Ensembl Gene

ENSMUSG00000071604

Gene Name

endosomal transmembrane epsin interactor 1

Synonyms

LOC381217, Fam189a2

MMRRC Submission

044209-MU

Accession Numbers

Essential gene?

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

Stock #

R6041 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23950114-24008383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23962193 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 270 (M270K)

Ref Sequence

ENSEMBL: ENSMUSP00000093878 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096164
AA Change: M270K

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: M270K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.1%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,354 (GRCm39)	M297K	probably damaging	Het
Ace	A	C	11: 105,866,134 (GRCm39)	H34P	probably benign	Het
Agbl2	A	T	2: 90,638,371 (GRCm39)	N652I	probably benign	Het
Auh	T	A	13: 53,073,122 (GRCm39)	L86F	possibly damaging	Het
Bmp10	A	G	6: 87,411,302 (GRCm39)	K365R	probably damaging	Het
Cacna1d	A	T	14: 29,764,314 (GRCm39)	S2086T	probably damaging	Het
Calcoco1	C	A	15: 102,626,374 (GRCm39)	R105L	possibly damaging	Het
Casc3	T	G	11: 98,719,385 (GRCm39)	V509G	probably damaging	Het
Clmn	A	G	12: 104,748,131 (GRCm39)	V472A	probably benign	Het
Cyp2b19	A	T	7: 26,458,852 (GRCm39)	S142C	probably damaging	Het
Derl3	T	C	10: 75,729,335 (GRCm39)	L26P	probably damaging	Het
Dgkh	C	T	14: 78,825,067 (GRCm39)	A863T	probably damaging	Het
Dhx30	C	T	9: 109,913,666 (GRCm39)	R1127Q	probably benign	Het
Dmxl2	A	G	9: 54,324,037 (GRCm39)	S1116P	probably damaging	Het
Dnah7b	T	C	1: 46,328,805 (GRCm39)	V3179A	probably benign	Het
Dnajb11	A	T	16: 22,687,471 (GRCm39)	N156I	probably benign	Het
Dpep1	A	T	8: 123,927,394 (GRCm39)	E316V	probably damaging	Het
F2rl2	T	A	13: 95,837,617 (GRCm39)	F221I	probably benign	Het
Flg2	T	A	3: 93,127,668 (GRCm39)	D173E	probably benign	Het
Fshr	A	T	17: 89,293,414 (GRCm39)	D421E	probably damaging	Het
Gfm2	T	A	13: 97,309,131 (GRCm39)	V612E	probably benign	Het
Gm17655	T	G	5: 110,195,439 (GRCm39)	K114N	possibly damaging	Het
Gm45844	C	A	7: 7,281,183 (GRCm39)		probably benign	Het
Gpr142	A	T	11: 114,697,203 (GRCm39)	I250F	probably damaging	Het
Hexa	A	G	9: 59,470,519 (GRCm39)	Q447R	probably damaging	Het
Leng8	T	C	7: 4,148,568 (GRCm39)	L780P	probably benign	Het
Lrrk1	T	C	7: 65,911,881 (GRCm39)	D1893G	probably benign	Het
Macf1	T	A	4: 123,407,641 (GRCm39)	I139F	probably damaging	Het
Megf10	A	T	18: 57,313,621 (GRCm39)	T22S	probably benign	Het
Mup-ps1	C	A	4: 60,088,549 (GRCm39)		noncoding transcript	Het
Myh13	A	T	11: 67,255,556 (GRCm39)	E1642V	probably damaging	Het
Myof	A	G	19: 37,913,068 (GRCm39)	Y1462H	probably damaging	Het
Nipbl	T	A	15: 8,353,748 (GRCm39)	D1765V	probably damaging	Het
Npy5r	A	T	8: 67,134,675 (GRCm39)	N39K	possibly damaging	Het
Or5m13b	G	A	2: 85,753,735 (GRCm39)	G41D	probably damaging	Het
Pax6	A	G	2: 105,514,247 (GRCm39)	I29V	probably damaging	Het
Pi4ka	A	G	16: 17,178,436 (GRCm39)	Y307H	probably benign	Het
Pmf1	A	C	3: 88,303,358 (GRCm39)	Y68D	probably damaging	Het
Psen2	C	A	1: 180,073,292 (GRCm39)	E10*	probably null	Het
Ptprs	T	A	17: 56,726,080 (GRCm39)	M991L	probably benign	Het
R3hdm4	A	G	10: 79,749,495 (GRCm39)	V20A	possibly damaging	Het
Rad17	T	C	13: 100,754,274 (GRCm39)	N649D	probably benign	Het
Rad9b	A	T	5: 122,489,415 (GRCm39)	C38S	probably damaging	Het
Rapgef2	T	C	3: 78,976,469 (GRCm39)	M1296V	probably benign	Het
Rbp3	T	C	14: 33,678,439 (GRCm39)	S796P	probably damaging	Het
Rpl10-ps3	A	G	9: 50,256,082 (GRCm39)	S54P	probably benign	Het
Sclt1	T	A	3: 41,581,612 (GRCm39)	I688F	probably damaging	Het
Scn10a	A	G	9: 119,438,535 (GRCm39)	I1778T	probably damaging	Het
Scrib	C	T	15: 75,939,021 (GRCm39)	R159Q	possibly damaging	Het
Senp1	C	T	15: 97,956,097 (GRCm39)	E441K	probably damaging	Het
Sipa1l1	T	A	12: 82,389,024 (GRCm39)	F417I	probably damaging	Het
Slco1a7	A	C	6: 141,684,764 (GRCm39)	D230E	probably benign	Het
Smcr8	A	G	11: 60,670,394 (GRCm39)	D514G	probably damaging	Het
Tbc1d23	T	G	16: 56,993,513 (GRCm39)	D551A	probably benign	Het
Tet1	G	T	10: 62,649,152 (GRCm39)	T149N	probably damaging	Het
Them4	A	T	3: 94,224,806 (GRCm39)	D61V	possibly damaging	Het
Trak1	A	T	9: 121,289,478 (GRCm39)	I597F	probably damaging	Het
Trank1	A	G	9: 111,206,864 (GRCm39)	I1666V	possibly damaging	Het
Vipr2	A	C	12: 116,106,604 (GRCm39)	N378T	probably damaging	Het
Zfp804b	T	C	5: 6,821,231 (GRCm39)	R575G	probably benign	Het
Zfp941	A	T	7: 140,392,158 (GRCm39)	C400*	probably null	Het
Zswim5	A	C	4: 116,819,818 (GRCm39)	S408R	probably benign	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
R5942:Entrep1	UTSW	19	23,963,834 (GRCm39)	missense	probably damaging	1.00
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'- AGTCTCAAGGCAGGGCATAC -3'
(R):5'- ATTTCAACCTAGCAGTCCATCC -3'

Sequencing Primer
(F):5'- TCAAGGCAGGGCATACCACAG -3'
(R):5'- ATCCCTACTGTGTGTGGAAGCAC -3'

Posted On

2017-07-14