Mutagenetix > Incidental Mutation

Incidental Mutation 'R5556:Entrep2'

435390

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

043113-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R5556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

64405839-64806276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64505957 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 96 (F96S)

Ref Sequence

ENSEMBL: ENSMUSP00000113680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000119118] [ENSMUST00000148459] [ENSMUST00000149851]

AlphaFold

Q6A044

Predicted Effect

probably damaging
Transcript: ENSMUST00000119118
AA Change: F96S

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

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: F96S

Domain	Start	End	E-Value	Type
Pfam:CD20	34	199	4.9e-33	PFAM
low complexity region	243	259	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144535

Predicted Effect

probably benign
Transcript: ENSMUST00000148459

SMART Domains

Protein: ENSMUSP00000116119
Gene: ENSMUSG00000030518

Domain	Start	End	E-Value	Type
Pfam:CD20	34	162	1.8e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149851

SMART Domains

Protein: ENSMUSP00000115095
Gene: ENSMUSG00000030518

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	147	163	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,066,026 (GRCm39)		probably null	Het
Abca13	A	T	11: 9,208,546 (GRCm39)	I240F	possibly damaging	Het
Accs	A	G	2: 93,666,428 (GRCm39)	Y420H	probably damaging	Het
Aco2	T	C	15: 81,773,520 (GRCm39)	Y20H	probably damaging	Het
Adck2	T	C	6: 39,560,869 (GRCm39)	V419A	probably benign	Het
Bahd1	T	A	2: 118,746,751 (GRCm39)	N123K	probably damaging	Het
Cast	A	G	13: 74,844,008 (GRCm39)		probably null	Het
Cd164l2	T	A	4: 132,951,016 (GRCm39)	V157E	probably damaging	Het
Cdk11b	C	T	4: 155,718,604 (GRCm39)	Q185*	probably null	Het
Ces2g	T	C	8: 105,694,074 (GRCm39)	F470S	probably benign	Het
Cherp	C	G	8: 73,221,824 (GRCm39)	Q313H	probably damaging	Het
Chrna4	A	G	2: 180,675,773 (GRCm39)	V110A	possibly damaging	Het
Cndp2	A	G	18: 84,690,249 (GRCm39)	V231A	probably benign	Het
Cst7	A	T	2: 150,412,488 (GRCm39)	H17L	probably benign	Het
Decr1	C	T	4: 15,919,244 (GRCm39)	D300N	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dgkb	T	G	12: 38,177,363 (GRCm39)	V230G	probably damaging	Het
Dis3l2	T	C	1: 86,901,126 (GRCm39)	V439A	possibly damaging	Het
Disp3	C	T	4: 148,342,614 (GRCm39)	G612D	probably benign	Het
Dock7	T	C	4: 98,832,972 (GRCm39)	T1962A	probably damaging	Het
Fibp	T	A	19: 5,514,227 (GRCm39)	V304E	possibly damaging	Het
Flt3	T	A	5: 147,269,807 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,835,087 (GRCm39)	Q233*	probably null	Het
Klhl42	C	A	6: 147,009,610 (GRCm39)	S483Y	probably benign	Het
Map3k19	G	A	1: 127,762,284 (GRCm39)	R276*	probably null	Het
Mecom	A	G	3: 30,292,249 (GRCm39)	S87P	probably damaging	Het
Med13	A	G	11: 86,218,664 (GRCm39)	V416A	probably benign	Het
Mepe	G	A	5: 104,486,078 (GRCm39)	G406D	probably damaging	Het
Met	T	G	6: 17,534,175 (GRCm39)	L673V	probably benign	Het
Mlh3	A	T	12: 85,315,267 (GRCm39)	Y306*	probably null	Het
Nrxn2	C	A	19: 6,540,121 (GRCm39)	A814E	probably damaging	Het
Nsmaf	C	T	4: 6,398,621 (GRCm39)	V828I	probably benign	Het
Or2j3	T	A	17: 38,615,964 (GRCm39)	K129N	possibly damaging	Het
Or9r7	A	T	10: 129,962,728 (GRCm39)	L66H	probably damaging	Het
Panx1	A	G	9: 14,918,929 (GRCm39)	I310T	possibly damaging	Het
Pcare	T	C	17: 72,059,420 (GRCm39)	K86E	possibly damaging	Het
Pcdhb6	T	A	18: 37,467,442 (GRCm39)	L121Q	probably damaging	Het
Plekha7	G	A	7: 115,763,384 (GRCm39)	T406I	probably benign	Het
Prtg	T	C	9: 72,758,986 (GRCm39)	S447P	probably damaging	Het
Ptprr	A	G	10: 116,087,054 (GRCm39)	Y267C	probably damaging	Het
Rbpjl	A	G	2: 164,249,982 (GRCm39)	T134A	probably benign	Het
Relch	C	A	1: 105,620,892 (GRCm39)	Q456K	probably benign	Het
Rpe	C	A	1: 66,745,625 (GRCm39)	T55N	probably damaging	Het
Scn1a	T	C	2: 66,155,141 (GRCm39)	D606G	probably benign	Het
Setd5	T	A	6: 113,124,463 (GRCm39)	N1105K	probably benign	Het
Sh3d21	T	C	4: 126,056,029 (GRCm39)	N126D	possibly damaging	Het
Shank1	A	G	7: 43,993,739 (GRCm39)		probably benign	Het
Srgap3	T	A	6: 112,716,039 (GRCm39)	D627V	probably damaging	Het
Tacc2	T	A	7: 130,276,336 (GRCm39)	S1796T	probably damaging	Het
Tmco3	G	A	8: 13,344,870 (GRCm39)	V217I	probably damaging	Het
Trgc4	A	T	13: 19,536,477 (GRCm39)	R178S	unknown	Het
Tspan10	A	T	11: 120,335,541 (GRCm39)	Y217F	possibly damaging	Het
Usp3	G	A	9: 66,451,303 (GRCm39)	T153M	possibly damaging	Het
Xdh	G	T	17: 74,204,759 (GRCm39)	T1067K	probably benign	Het
Zfp334	T	C	2: 165,222,504 (GRCm39)	D513G	probably benign	Het

Other mutations in Entrep2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02053:Entrep2	APN	7	64,469,590 (GRCm39)	missense	probably damaging	1.00
IGL02567:Entrep2	APN	7	64,436,479 (GRCm39)	missense	possibly damaging	0.95
thick	UTSW	7	64,409,116 (GRCm39)	nonsense	probably null
R0612:Entrep2	UTSW	7	64,411,549 (GRCm39)	missense	probably benign	0.17
R0720:Entrep2	UTSW	7	64,469,658 (GRCm39)	splice site	probably benign
R1368:Entrep2	UTSW	7	64,469,625 (GRCm39)	missense	probably damaging	1.00
R1716:Entrep2	UTSW	7	64,426,633 (GRCm39)	splice site	probably null
R1840:Entrep2	UTSW	7	64,408,943 (GRCm39)	missense	probably benign	0.37
R1972:Entrep2	UTSW	7	64,425,516 (GRCm39)	missense	possibly damaging	0.91
R1973:Entrep2	UTSW	7	64,425,516 (GRCm39)	missense	possibly damaging	0.91
R2201:Entrep2	UTSW	7	64,409,141 (GRCm39)	missense	probably benign	0.01
R2230:Entrep2	UTSW	7	64,408,970 (GRCm39)	missense	probably damaging	0.97
R2232:Entrep2	UTSW	7	64,408,970 (GRCm39)	missense	probably damaging	0.97
R2340:Entrep2	UTSW	7	64,425,565 (GRCm39)	missense	probably benign	0.00
R4809:Entrep2	UTSW	7	64,426,488 (GRCm39)	missense	probably damaging	1.00
R4923:Entrep2	UTSW	7	64,417,439 (GRCm39)	missense	probably benign	0.00
R4928:Entrep2	UTSW	7	64,409,116 (GRCm39)	nonsense	probably null
R5852:Entrep2	UTSW	7	64,425,579 (GRCm39)	missense	probably damaging	1.00
R6169:Entrep2	UTSW	7	64,409,147 (GRCm39)	missense	probably benign	0.00
R7029:Entrep2	UTSW	7	64,409,075 (GRCm39)	missense	probably benign	0.00
R7455:Entrep2	UTSW	7	64,409,161 (GRCm39)	missense	probably benign	0.00
R7512:Entrep2	UTSW	7	64,805,918 (GRCm39)	missense	probably benign	0.23
R7896:Entrep2	UTSW	7	64,426,557 (GRCm39)	missense	probably damaging	1.00
R8166:Entrep2	UTSW	7	64,409,153 (GRCm39)	missense	probably benign	0.01
R9729:Entrep2	UTSW	7	64,806,056 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCTGAGACGTGAAGAACATG -3'
(R):5'- ACTTGCCGTGGTTTCTCAG -3'

Sequencing Primer
(F):5'- GGTACAATTTGCCCTTAAACGTC -3'
(R):5'- CACTTTTGCTATTCAGGGTAATAGG -3'

Posted On

2016-10-24