Mutagenetix > Incidental Mutation

Incidental Mutation 'R6451:Esp18'

516367

Institutional Source

Beutler Lab

Gene Symbol

Esp18

Ensembl Gene

ENSMUSG00000094024

Gene Name

exocrine gland secreted peptide 18

Synonyms

Gm20579

MMRRC Submission

044587-MU

Accession Numbers

Essential gene?

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

Stock #

R6451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

39717250-39721883 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 39720853 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 33 (E33*)

Ref Sequence

ENSEMBL: ENSMUSP00000135980 (fasta)

Gene Model

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

AlphaFold

A8R0V1

Predicted Effect

probably null
Transcript: ENSMUST00000179848
AA Change: E33*

SMART Domains

Protein: ENSMUSP00000135980
Gene: ENSMUSG00000094024
AA Change: E33*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

98% (39/40)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	A	10: 79,842,733 (GRCm39)	V1164E	probably damaging	Het
Acnat2	A	G	4: 49,380,262 (GRCm39)	V372A	probably benign	Het
Adam17	A	T	12: 21,392,883 (GRCm39)	D313E	probably benign	Het
Adgrf5	A	T	17: 43,735,709 (GRCm39)	R200*	probably null	Het
Akr1d1	G	A	6: 37,527,150 (GRCm39)	E129K	probably benign	Het
Arhgap29	T	A	3: 121,787,230 (GRCm39)	V382E	probably damaging	Het
Arhgef40	G	A	14: 52,238,456 (GRCm39)	V1312I	probably damaging	Het
Bbs9	A	G	9: 22,479,060 (GRCm39)	S168G	probably damaging	Het
Carmil1	T	A	13: 24,276,541 (GRCm39)	K202*	probably null	Het
Cnep1r1	A	G	8: 88,846,438 (GRCm39)	E19G	probably damaging	Het
Dnah1	T	A	14: 31,022,765 (GRCm39)	Q1124L	probably benign	Het
Dph1	G	T	11: 75,072,143 (GRCm39)	A242D	probably damaging	Het
Efcab7	T	A	4: 99,719,738 (GRCm39)	Y73*	probably null	Het
Fbln2	T	A	6: 91,211,241 (GRCm39)	I395K	probably benign	Het
Grin3a	C	T	4: 49,844,969 (GRCm39)	C38Y	probably damaging	Het
Hivep3	T	A	4: 119,956,105 (GRCm39)	S1474T	probably benign	Het
Hmcn1	C	T	1: 150,868,670 (GRCm39)	V45M	probably damaging	Het
Intu	T	A	3: 40,655,723 (GRCm39)	F937I	possibly damaging	Het
Llgl2	G	A	11: 115,735,767 (GRCm39)	G121D	probably damaging	Het
Myo7a	C	T	7: 97,722,374 (GRCm39)	V1184M	probably benign	Het
Nsmce4a	G	T	7: 130,144,479 (GRCm39)			Het
Or5w20	T	C	2: 87,726,935 (GRCm39)	Y131H	probably damaging	Het
Or6c69c	A	T	10: 129,911,007 (GRCm39)	M243L	probably benign	Het
Phactr1	T	A	13: 43,286,469 (GRCm39)	V590E	probably damaging	Het
Pigo	G	A	4: 43,021,412 (GRCm39)	S510L	probably benign	Het
Pira1	C	G	7: 3,740,319 (GRCm39)	A301P	probably damaging	Het
Rnf19a	A	G	15: 36,253,205 (GRCm39)	I378T	possibly damaging	Het
Rnf216	G	T	5: 142,978,589 (GRCm39)	P793T	possibly damaging	Het
Samd8	T	C	14: 21,833,866 (GRCm39)		probably null	Het
Son	T	A	16: 91,454,490 (GRCm39)	M1079K	probably damaging	Het
Spata7	T	A	12: 98,624,596 (GRCm39)	M166K	probably benign	Het
Spta1	G	A	1: 174,044,767 (GRCm39)	E1468K	probably damaging	Het
Taar3	A	T	10: 23,825,705 (GRCm39)	I84F	possibly damaging	Het
Tas2r107	T	A	6: 131,636,977 (GRCm39)	D24V	possibly damaging	Het
Tmc2	A	G	2: 130,106,123 (GRCm39)	R885G	probably damaging	Het
Tox3	C	A	8: 90,984,687 (GRCm39)	R164L	probably benign	Het
Ttc5	A	G	14: 51,004,664 (GRCm39)	I380T	probably damaging	Het
Vmn1r179	A	G	7: 23,628,076 (GRCm39)	N89S	possibly damaging	Het
Zfp944	T	C	17: 22,557,846 (GRCm39)	E467G	probably benign	Het
Zzef1	A	T	11: 72,813,982 (GRCm39)	D2857V	possibly damaging	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
R5785:Esp18	UTSW	17	39,720,839 (GRCm39)	missense	probably damaging	0.99
Z1176:Esp18	UTSW	17	39,719,057 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGATTAGTGAGCCCTGG -3'
(R):5'- CCCTTGAGTGATAATGTAGTATGCC -3'

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

Posted On

2018-05-21