Mutagenetix > Incidental Mutation

Incidental Mutation 'R8676:Entrep1'

661418

Institutional Source

Beutler Lab

Gene Symbol

Entrep1

Ensembl Gene

ENSMUSG00000071604

Gene Name

endosomal transmembrane epsin interactor 1

Synonyms

LOC381217, Fam189a2

MMRRC Submission

068531-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R8676 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

23950114-24008383 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23965858 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 214 (K214E)

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: K214E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: K214E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

93% (54/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	G	A	4: 144,396,683 (GRCm39)	R350C	possibly damaging	Het
Acsm3	T	A	7: 119,374,392 (GRCm39)	S281R	probably damaging	Het
Adipor2	G	T	6: 119,340,447 (GRCm39)		probably benign	Het
Alk	T	C	17: 72,204,936 (GRCm39)	S1079G	probably damaging	Het
Ankrd27	T	C	7: 35,302,009 (GRCm39)		probably null	Het
Anxa6	C	A	11: 54,892,108 (GRCm39)	E283*	probably null	Het
Bnc2	T	C	4: 84,194,550 (GRCm39)	H858R	possibly damaging	Het
Btnl6	T	C	17: 34,727,043 (GRCm39)	S496G	probably benign	Het
Ccdc88a	T	C	11: 29,410,860 (GRCm39)	S449P	probably benign	Het
Cdh23	A	T	10: 60,246,689 (GRCm39)	D916E	probably damaging	Het
Cfap43	A	T	19: 47,736,456 (GRCm39)	L1345H	possibly damaging	Het
Cyld	A	T	8: 89,456,138 (GRCm39)	H396L	probably benign	Het
Cyp20a1	A	G	1: 60,418,579 (GRCm39)	T340A	possibly damaging	Het
Czib	A	G	4: 107,752,796 (GRCm39)	N152D	unknown	Het
Dera	A	T	6: 137,807,202 (GRCm39)	I217F	probably damaging	Het
Dnah11	A	G	12: 118,154,539 (GRCm39)	L247P	probably damaging	Het
Eftud2	G	A	11: 102,759,447 (GRCm39)	T152M	probably damaging	Het
Epb41l2	C	T	10: 25,319,674 (GRCm39)	T169M	probably benign	Het
Fam186a	T	C	15: 99,845,023 (GRCm39)	D407G	unknown	Het
Gli3	T	A	13: 15,889,619 (GRCm39)	C578S	probably damaging	Het
Gm6408	A	G	5: 146,419,237 (GRCm39)	N84S	probably benign	Het
Heatr5a	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA	12: 51,934,702 (GRCm39)		probably benign	Het
Herc2	C	A	7: 55,838,361 (GRCm39)	T3296K	probably damaging	Het
Hnf4g	A	T	3: 3,708,133 (GRCm39)		probably benign	Het
Hyal4	C	A	6: 24,755,826 (GRCm39)	Q15K	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcna3	A	G	3: 106,943,908 (GRCm39)	E57G	probably damaging	Het
Kcnc3	C	A	7: 44,241,020 (GRCm39)	D237E	probably benign	Het
Map3k8	A	G	18: 4,343,137 (GRCm39)	V130A	probably benign	Het
Mpp7	A	G	18: 7,440,430 (GRCm39)		probably null	Het
Mtres1	A	G	10: 43,408,933 (GRCm39)	L70S	probably benign	Het
Myh13	T	A	11: 67,233,311 (GRCm39)	L610Q	probably damaging	Het
Or13p5	C	A	4: 118,592,235 (GRCm39)	P170T	probably damaging	Het
Or5ap2	T	A	2: 85,680,246 (GRCm39)	M150K	probably benign	Het
Or8b52	T	C	9: 38,577,064 (GRCm39)	I25M	probably benign	Het
Pcdhb5	A	T	18: 37,454,129 (GRCm39)	T170S	probably benign	Het
Polr3b	T	A	10: 84,516,251 (GRCm39)	H626Q	probably benign	Het
Prkg1	A	T	19: 31,742,146 (GRCm39)	L26Q	probably damaging	Het
Prob1	T	C	18: 35,787,039 (GRCm39)	N405S	possibly damaging	Het
Proz	T	G	8: 13,123,630 (GRCm39)	S300R	probably damaging	Het
Psg19	A	G	7: 18,527,990 (GRCm39)	I251T	probably benign	Het
Rcbtb1	T	C	14: 59,467,401 (GRCm39)	I413T	possibly damaging	Het
Rnf144b	T	A	13: 47,382,452 (GRCm39)	Y103N	probably damaging	Het
Rspry1	G	C	8: 95,358,747 (GRCm39)	G194R	probably benign	Het
Scn2b	A	G	9: 45,036,917 (GRCm39)	I142V	probably damaging	Het
Spata20	A	T	11: 94,372,607 (GRCm39)	L588H	probably damaging	Het
Stk32b	T	A	5: 37,614,503 (GRCm39)	H335L	probably benign	Het
Taar4	A	C	10: 23,836,801 (GRCm39)	D137A	possibly damaging	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Tek	A	T	4: 94,738,074 (GRCm39)	H708L	probably benign	Het
Tmem89	C	T	9: 108,744,095 (GRCm39)	L132F	unknown	Het
Ugt2b38	T	C	5: 87,559,681 (GRCm39)	I404V	probably benign	Het
Vmn1r16	C	T	6: 57,299,814 (GRCm39)	M269I	probably benign	Het
Vmn1r201	A	G	13: 22,659,422 (GRCm39)	K212R	probably damaging	Het
Vmn2r11	A	C	5: 109,201,626 (GRCm39)	F293V	probably damaging	Het
Zdhhc17	A	T	10: 110,798,240 (GRCm39)		probably benign	Het
Zfp423	C	A	8: 88,509,338 (GRCm39)	M335I	probably benign	Het
Zfp74	T	C	7: 29,634,079 (GRCm39)	Y543C	probably damaging	Het
Zfp975	A	T	7: 42,312,264 (GRCm39)	S116R	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
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
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'- TAACTTCAGGTTATTAGGGCTGC -3'
(R):5'- ACCTTGCCCGAGATTGCTTG -3'

Sequencing Primer
(F):5'- AGGGCTGCTCATACTTGC -3'
(R):5'- CCCGAGATTGCTTGACATGGAAC -3'

Posted On

2021-03-08