Mutagenetix > Incidental Mutation

Incidental Mutation 'R7029:Entrep2'

546180

Institutional Source

Beutler Lab

Gene Symbol

Entrep2

Ensembl Gene

ENSMUSG00000030518

Gene Name

endosomal transmembrane epsin interactor 2

Synonyms

Fam189a1, 5730507A09Rik

MMRRC Submission

045130-MU

Accession Numbers

Essential gene?

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

Stock #

R7029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64405839-64806276 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 64409075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 440 (T440S)

Ref Sequence

ENSEMBL: ENSMUSP00000113680 (fasta)

Gene Model

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

AlphaFold

Q6A044

Predicted Effect

probably benign
Transcript: ENSMUST00000119118
AA Change: T440S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113680
Gene: ENSMUSG00000030518
AA Change: T440S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,841 (GRCm39)	Q271R	probably benign	Het
Abhd4	T	A	14: 54,500,164 (GRCm39)	W63R	probably damaging	Het
Adcy5	A	G	16: 35,120,018 (GRCm39)	M1176V	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccn3	A	G	15: 54,611,171 (GRCm39)	D102G	possibly damaging	Het
Def6	A	G	17: 28,444,943 (GRCm39)	K447R	probably benign	Het
Dna2	T	C	10: 62,799,773 (GRCm39)	S726P	probably damaging	Het
Ell	G	A	8: 71,031,879 (GRCm39)	V15I	probably damaging	Het
Epha3	T	A	16: 63,593,698 (GRCm39)	D130V	probably benign	Het
Gys1	A	G	7: 45,089,008 (GRCm39)	T200A	possibly damaging	Het
Habp4	A	T	13: 64,309,939 (GRCm39)	H47L	probably benign	Het
Iqcn	G	T	8: 71,161,511 (GRCm39)	V235L	possibly damaging	Het
Kcnj10	C	A	1: 172,196,563 (GRCm39)	R26S	probably benign	Het
Klhl1	T	A	14: 96,755,632 (GRCm39)	D41V	probably benign	Het
Lyn	A	G	4: 3,782,996 (GRCm39)	T410A	probably damaging	Het
Mga	A	G	2: 119,754,031 (GRCm39)	T847A	probably damaging	Het
Mrgpra3	G	T	7: 47,239,290 (GRCm39)	T212N	probably benign	Het
Myh4	T	C	11: 67,137,251 (GRCm39)	F491L	probably benign	Het
Neurl4	T	A	11: 69,801,562 (GRCm39)	I1206N	probably damaging	Het
Pcdhb15	T	A	18: 37,608,621 (GRCm39)	W618R	possibly damaging	Het
Pomc	A	G	12: 4,010,146 (GRCm39)	H129R	probably damaging	Het
Ppm1l	C	A	3: 69,460,399 (GRCm39)	H325Q	probably benign	Het
Psme4	A	G	11: 30,722,474 (GRCm39)		probably benign	Het
Reep2	A	G	18: 34,978,342 (GRCm39)	I74V	probably null	Het
Robo2	T	G	16: 73,745,225 (GRCm39)	E850A	probably damaging	Het
Scrn2	T	A	11: 96,921,262 (GRCm39)		probably benign	Het
Sfpq	G	A	4: 126,923,675 (GRCm39)	R673K	probably benign	Het
Sh2d3c	T	C	2: 32,644,581 (GRCm39)	*703R	probably null	Het
Spp1	A	G	5: 104,587,167 (GRCm39)	M85V	probably benign	Het
Srebf1	T	C	11: 60,097,810 (GRCm39)	E98G	probably damaging	Het
Srrm4	T	A	5: 116,582,851 (GRCm39)		probably benign	Het
Ticam1	A	T	17: 56,578,154 (GRCm39)	S314T	possibly damaging	Het
Tie1	T	C	4: 118,341,823 (GRCm39)	I209V	possibly damaging	Het
Vapa	G	A	17: 65,889,586 (GRCm39)	R194*	probably null	Het
Vcan	C	T	13: 89,838,360 (GRCm39)	D2395N	probably damaging	Het
Whamm	A	G	7: 81,241,574 (GRCm39)	H295R	probably benign	Het
Zdhhc14	A	G	17: 5,698,186 (GRCm39)	Y85C	probably damaging	Het
Zfp35	T	A	18: 24,136,583 (GRCm39)	F309Y	probably damaging	Het
Zfp423	C	A	8: 88,414,694 (GRCm39)	C1187F	probably damaging	Het
Zfp874b	T	C	13: 67,622,392 (GRCm39)	Y302C	probably damaging	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
R5556:Entrep2	UTSW	7	64,505,957 (GRCm39)	missense	probably damaging	1.00
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
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'- GCCATTGATCGTATGGTGCC -3'
(R):5'- ATTAAGTGACCCAGGGAACG -3'

Sequencing Primer
(F):5'- GTGCCCACCACATGTCG -3'
(R):5'- ACGCAGTGGTAGCAACTCTC -3'

Posted On

2019-05-13