Mutagenetix > Incidental Mutation

Incidental Mutation 'R4329:Esp1'

324547

Institutional Source

Beutler Lab

Gene Symbol

Esp1

Ensembl Gene

ENSMUSG00000073396

Gene Name

exocrine gland secreted peptide 1

Synonyms

ESP1, Gm6084

MMRRC Submission

041663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4329 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41038011-41042673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41039768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 18 (M18V)

Ref Sequence

ENSEMBL: ENSMUSP00000123886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161110]

AlphaFold

Q3LHH8

PDB Structure

Solution Structure of Mouse Pheromone ESP1 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000161110
AA Change: M18V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000123886
Gene: ENSMUSG00000073396
AA Change: M18V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ESP	24	82	2.8e-22	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

96% (68/71)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	A	5: 113,243,455 (GRCm39)		probably null	Het
Adamts15	T	C	9: 30,815,814 (GRCm39)	S681G	probably benign	Het
Ampd2	C	A	3: 107,985,103 (GRCm39)		probably benign	Het
Ang2	A	T	14: 51,433,325 (GRCm39)	I19N	possibly damaging	Het
Brd10	G	T	19: 29,720,961 (GRCm39)	T688K	probably benign	Het
Cacna1s	A	C	1: 136,046,771 (GRCm39)	D1819A	probably benign	Het
Cand2	C	A	6: 115,776,949 (GRCm39)	H1112Q	possibly damaging	Het
Catsperd	T	A	17: 56,961,517 (GRCm39)	I413K	possibly damaging	Het
Ccdc142	T	A	6: 83,083,997 (GRCm39)		probably benign	Het
Cd55	A	T	1: 130,380,220 (GRCm39)	C253S	probably damaging	Het
Celsr3	C	T	9: 108,723,248 (GRCm39)	R2847C	probably benign	Het
Cep290	C	T	10: 100,373,530 (GRCm39)	S1270L	probably damaging	Het
Chka	T	C	19: 3,925,803 (GRCm39)		probably benign	Het
Cntnap5b	T	A	1: 99,999,888 (GRCm39)	D215E	probably damaging	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Cspg4	T	C	9: 56,799,749 (GRCm39)	F1539L	probably damaging	Het
Cwf19l2	A	T	9: 3,458,878 (GRCm39)	I776F	probably damaging	Het
Dchs1	A	T	7: 105,402,966 (GRCm39)	I3192N	probably damaging	Het
Dnah7c	T	A	1: 46,688,441 (GRCm39)	D1870E	probably benign	Het
Drc1	A	T	5: 30,513,002 (GRCm39)	I359L	probably benign	Het
Exoc1	T	A	5: 76,715,822 (GRCm39)	F789L	probably damaging	Het
Fbxw22	T	A	9: 109,213,111 (GRCm39)	T279S	probably damaging	Het
Frem1	G	A	4: 82,904,774 (GRCm39)	A880V	probably benign	Het
Gm29514	A	G	1: 146,296,429 (GRCm39)		noncoding transcript	Het
Grm7	T	C	6: 110,891,325 (GRCm39)	L186P	probably damaging	Het
Ipo8	A	T	6: 148,701,662 (GRCm39)		probably benign	Het
Klk4	A	G	7: 43,533,830 (GRCm39)	D202G	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Mroh2b	T	A	15: 4,960,861 (GRCm39)	Y808N	probably damaging	Het
Myom1	C	T	17: 71,343,348 (GRCm39)	L182F	probably damaging	Het
Nova1	A	T	12: 46,767,615 (GRCm39)	I102N	unknown	Het
Or7g34	T	A	9: 19,478,318 (GRCm39)	M121L	possibly damaging	Het
Pak3	T	C	X: 142,516,205 (GRCm39)		probably null	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Patl2	C	T	2: 121,958,018 (GRCm39)	S80N	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pkmyt1	T	A	17: 23,951,709 (GRCm39)	Y88N	probably damaging	Het
Pnkp	T	C	7: 44,508,018 (GRCm39)	S114P	probably benign	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Sema4d	T	C	13: 51,857,340 (GRCm39)	R631G	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Skint9	A	C	4: 112,249,062 (GRCm39)	L122R	probably damaging	Het
Slc16a13	T	C	11: 70,108,723 (GRCm39)	N369S	probably benign	Het
Strada	A	G	11: 106,077,999 (GRCm39)		probably benign	Het
Tnxb	C	A	17: 34,912,838 (GRCm39)	S1784Y	probably damaging	Het
Trpc2	T	C	7: 101,736,727 (GRCm39)	V318A	probably damaging	Het
Ttc3	G	A	16: 94,267,820 (GRCm39)	R1589H	probably damaging	Het
Ttyh1	A	T	7: 4,133,580 (GRCm39)	D295V	probably damaging	Het
Unc5b	A	G	10: 60,618,969 (GRCm39)	Y58H	probably damaging	Het
Xylt1	G	A	7: 117,255,684 (GRCm39)	G752D	probably damaging	Het
Yipf7	A	T	5: 69,678,465 (GRCm39)	L55Q	probably damaging	Het
Zfp827	G	A	8: 79,916,463 (GRCm39)		probably benign	Het
Zfta	A	G	19: 7,398,591 (GRCm39)		probably benign	Het

Other mutations in Esp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3700:Esp1	UTSW	17	41,041,998 (GRCm39)	missense	unknown
R5786:Esp1	UTSW	17	41,041,809 (GRCm39)	missense	probably benign	0.24
R6177:Esp1	UTSW	17	41,039,723 (GRCm39)	missense	possibly damaging	0.73
R6723:Esp1	UTSW	17	41,039,747 (GRCm39)	missense	probably benign	0.02
R7223:Esp1	UTSW	17	41,041,972 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGTGTGAATGAATTTGTCAGCC -3'
(R):5'- TTCCTACATGTCACTAGTGGGTAC -3'

Sequencing Primer
(F):5'- CAGCCAGAATTGCTTTGGC -3'
(R):5'- TCACTAGTGGGTACTATAGCAGCC -3'

Posted On

2015-06-24