Mutagenetix > Incidental Mutation

Incidental Mutation 'R5785:Esp18'

447984

Institutional Source

Beutler Lab

Gene Symbol

Esp18

Ensembl Gene

ENSMUSG00000094024

Gene Name

exocrine gland secreted peptide 18

Synonyms

Gm20579

MMRRC Submission

043206-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.229) question?

Stock #

R5785 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

39717250-39721883 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 39720839 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 28 (T28I)

Ref Sequence

ENSEMBL: ENSMUSP00000135980 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179848]

AlphaFold

A8R0V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000179848
AA Change: T28I

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135980
Gene: ENSMUSG00000094024
AA Change: T28I

Domain	Start	End	E-Value	Type
Pfam:ESP	24	80	1.4e-19	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	T	9: 99,502,725 (GRCm39)	N295I	probably damaging	Het
Abcg3	G	A	5: 105,116,036 (GRCm39)	A266V	probably damaging	Het
Apbb1	C	A	7: 105,216,922 (GRCm39)	D254Y	probably damaging	Het
Arhgap39	T	C	15: 76,621,618 (GRCm39)	M328V	probably benign	Het
Bub1b	T	A	2: 118,440,325 (GRCm39)	V143D	probably damaging	Het
Celsr3	A	G	9: 108,704,996 (GRCm39)	D493G	probably damaging	Het
Cers4	T	A	8: 4,566,992 (GRCm39)		probably null	Het
Clec4d	A	G	6: 123,251,729 (GRCm39)	R204G	probably benign	Het
Cngb1	C	A	8: 95,980,823 (GRCm39)	R910L	possibly damaging	Het
Coro2a	A	T	4: 46,564,691 (GRCm39)	N18K	probably benign	Het
Cwf19l1	A	G	19: 44,110,380 (GRCm39)	F290S	probably damaging	Het
Hdac10	A	T	15: 89,011,148 (GRCm39)	F205Y	probably benign	Het
Hhip	T	A	8: 80,724,821 (GRCm39)	H317L	possibly damaging	Het
Il36b	G	A	2: 24,044,661 (GRCm39)	M20I	probably benign	Het
Ilf3	T	A	9: 21,306,168 (GRCm39)	N276K	probably damaging	Het
Jchain	T	C	5: 88,670,376 (GRCm39)	N81S	probably benign	Het
Mei4	A	G	9: 81,907,600 (GRCm39)	Y211C	probably damaging	Het
Mx2	A	T	16: 97,339,904 (GRCm39)	E20V	possibly damaging	Het
Ndufa10	A	G	1: 92,388,096 (GRCm39)		probably null	Het
Nodal	A	G	10: 61,259,456 (GRCm39)	T298A	probably damaging	Het
Nvl	T	C	1: 180,966,863 (GRCm39)	Y47C	probably damaging	Het
Onecut1	C	T	9: 74,770,674 (GRCm39)	R366C	probably damaging	Het
Or9q1	T	C	19: 13,804,983 (GRCm39)	Y259C	probably damaging	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Ppp5c	A	G	7: 16,761,616 (GRCm39)		probably null	Het
Prag1	A	G	8: 36,570,641 (GRCm39)	E408G	probably benign	Het
Ptpn21	T	C	12: 98,648,809 (GRCm39)	N949S	probably damaging	Het
Scn7a	A	C	2: 66,527,912 (GRCm39)	N859K	possibly damaging	Het
Smarca4	T	C	9: 21,597,322 (GRCm39)	I1362T	probably damaging	Het
Syt12	T	C	19: 4,501,022 (GRCm39)	R343G	possibly damaging	Het
Topbp1	T	C	9: 103,200,727 (GRCm39)	S587P	probably benign	Het
Trim80	C	T	11: 115,337,301 (GRCm39)	Q388*	probably null	Het
Tsc2	T	C	17: 24,818,861 (GRCm39)		probably null	Het
Vmn2r130	T	A	17: 23,280,461 (GRCm39)	S41T	probably benign	Het
Vmn2r3	T	A	3: 64,166,444 (GRCm39)	T896S	possibly damaging	Het
Xirp2	A	G	2: 67,340,006 (GRCm39)	E749G	probably damaging	Het
Zbtb24	G	A	10: 41,327,849 (GRCm39)	G245E	probably benign	Het
Zfp507	A	G	7: 35,487,167 (GRCm39)	V767A	probably benign	Het

Other mutations in Esp18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0377:Esp18	UTSW	17	39,720,835 (GRCm39)	missense	probably benign
R0900:Esp18	UTSW	17	39,719,023 (GRCm39)	missense	possibly damaging	0.52
R5450:Esp18	UTSW	17	39,719,070 (GRCm39)	missense	probably benign	0.03
R6451:Esp18	UTSW	17	39,720,853 (GRCm39)	nonsense	probably null
Z1176:Esp18	UTSW	17	39,719,057 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTCTTGAACTTTAGGTGAGAGG -3'
(R):5'- AGTGATAATGTAGTATGCCAAGTGC -3'

Sequencing Primer
(F):5'- GAGATTAGTGAGCCCTGGAGGTC -3'
(R):5'- GCCTAGTTAAACTTTATTCGAGGCAG -3'

Posted On

2016-12-15