Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00485:Entrep1'

3218

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Entrep1

Ensembl Gene

ENSMUSG00000071604

Gene Name

endosomal transmembrane epsin interactor 1

Synonyms

LOC381217, Fam189a2

Accession Numbers

Essential gene?

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

Stock #

IGL00485

Quality Score

Status

Chromosome

Chromosomal Location

23950114-24008383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 23962086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 306 (R306W)

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: R306W

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

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: R306W

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap23	G	A	11: 97,383,497 (GRCm39)		probably benign	Het
Arhgef37	G	A	18: 61,656,942 (GRCm39)	T41I	probably damaging	Het
Brms1	A	C	19: 5,099,070 (GRCm39)		probably benign	Het
Cdkn1a	C	A	17: 29,317,494 (GRCm39)	A38E	possibly damaging	Het
Col4a2	A	G	8: 11,489,012 (GRCm39)	M1133V	probably benign	Het
Ctps1	T	C	4: 120,410,141 (GRCm39)	Y314C	probably damaging	Het
Defa30	T	A	8: 21,625,467 (GRCm39)	M77K	probably benign	Het
Eif3a	T	C	19: 60,758,328 (GRCm39)	R817G	unknown	Het
Ftdc2	A	G	16: 58,455,854 (GRCm39)	Y140H	probably damaging	Het
Greb1l	A	G	18: 10,555,962 (GRCm39)	S1725G	possibly damaging	Het
Hmgxb4	T	C	8: 75,756,131 (GRCm39)	S545P	probably damaging	Het
Hrob	C	T	11: 102,146,783 (GRCm39)	S353F	possibly damaging	Het
Kif13b	A	G	14: 65,002,522 (GRCm39)	E1049G	possibly damaging	Het
Mug1	T	C	6: 121,864,375 (GRCm39)	V1424A	probably benign	Het
Nlrp2	A	G	7: 5,340,547 (GRCm39)	V89A	probably benign	Het
Osbpl11	T	G	16: 33,062,115 (GRCm39)	W741G	probably damaging	Het
Pam	A	G	1: 97,750,678 (GRCm39)	V914A	possibly damaging	Het
Phldb2	T	A	16: 45,577,551 (GRCm39)	I1117F	possibly damaging	Het
Pign	A	T	1: 105,525,448 (GRCm39)	L460*	probably null	Het
Pramel31	G	A	4: 144,090,012 (GRCm39)	V351I	probably damaging	Het
Prdm10	A	T	9: 31,238,842 (GRCm39)	I196F	possibly damaging	Het
Stk36	T	C	1: 74,673,244 (GRCm39)	S1044P	probably benign	Het
Trim43b	T	C	9: 88,973,695 (GRCm39)	T13A	probably benign	Het
Unc5b	T	C	10: 60,618,995 (GRCm39)	Y49C	possibly damaging	Het
Urb2	T	C	8: 124,755,433 (GRCm39)	I380T	probably damaging	Het
Zfyve27	T	A	19: 42,171,872 (GRCm39)	C229S	probably benign	Het

Other mutations in Entrep1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20