Mutagenetix > Incidental Mutation

Incidental Mutation 'R1148:Esp4'

102543

Institutional Source

Beutler Lab

Gene Symbol

Esp4

Ensembl Gene

ENSMUSG00000095540

Gene Name

exocrine gland secreted peptide 4

Synonyms

Gm20580

MMRRC Submission

039221-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R1148 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40909485-40913509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40913262 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 43 (N43T)

Ref Sequence

ENSEMBL: ENSMUSP00000136092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178498]

AlphaFold

A8R0T8

Predicted Effect

probably benign
Transcript: ENSMUST00000178498
AA Change: N43T

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000136092
Gene: ENSMUSG00000095540
AA Change: N43T

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:ESP	18	79	1.6e-32	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 97.8%
10x: 90.3%
20x: 69.2%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Alg10b	T	C	15: 90,112,068 (GRCm39)	F304S	possibly damaging	Het
Ank3	C	T	10: 69,718,369 (GRCm39)	S540F	probably damaging	Het
Arhgef16	T	C	4: 154,365,346 (GRCm39)	N590D	probably benign	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Cilp	T	A	9: 65,187,598 (GRCm39)	L1231Q	possibly damaging	Het
Cyp4x1	A	G	4: 114,983,752 (GRCm39)		probably benign	Het
Disp2	G	A	2: 118,636,899 (GRCm39)		probably null	Het
Dnah5	T	C	15: 28,421,836 (GRCm39)	L3896P	probably damaging	Het
Dpp8	T	C	9: 64,961,114 (GRCm39)		probably null	Het
Fat3	T	C	9: 15,908,070 (GRCm39)	D2644G	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Lonp2	A	G	8: 87,363,168 (GRCm39)	E262G	probably benign	Het
Ly6h	G	T	15: 75,437,021 (GRCm39)	S118R	unknown	Het
Mapk12	T	C	15: 89,018,826 (GRCm39)	Y203C	probably damaging	Het
Mapk15	A	G	15: 75,870,004 (GRCm39)	T375A	probably benign	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or5g9	C	A	2: 85,552,620 (GRCm39)	Y290*	probably null	Het
Osbpl11	T	C	16: 33,047,582 (GRCm39)	F515S	probably damaging	Het
Pcdh15	T	C	10: 74,006,392 (GRCm39)	V90A	probably damaging	Het
Ptpn4	T	C	1: 119,612,270 (GRCm39)	D41G	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Sfi1	CCTCTC	CCTCTCTC	11: 3,127,419 (GRCm39)		probably benign	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Sh3d19	A	G	3: 86,014,634 (GRCm39)	D475G	possibly damaging	Het
Shprh	T	C	10: 11,089,226 (GRCm39)	S1655P	possibly damaging	Het
Slc25a12	G	A	2: 71,142,912 (GRCm39)		probably benign	Het
Strc	A	G	2: 121,202,558 (GRCm39)		probably benign	Het
Ttc22	G	A	4: 106,480,228 (GRCm39)	V161M	probably damaging	Het
Unc79	T	C	12: 103,078,926 (GRCm39)	L1504P	probably damaging	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het

Other mutations in Esp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02713:Esp4	APN	17	40,913,297 (GRCm39)	missense	probably benign	0.00
R1148:Esp4	UTSW	17	40,913,262 (GRCm39)	missense	probably benign	0.03
R1565:Esp4	UTSW	17	40,913,486 (GRCm39)	makesense	probably null
R2161:Esp4	UTSW	17	40,913,284 (GRCm39)	missense	probably benign	0.00
R3406:Esp4	UTSW	17	40,913,336 (GRCm39)	missense	possibly damaging	0.93
R3624:Esp4	UTSW	17	40,913,484 (GRCm39)	missense	unknown
R4730:Esp4	UTSW	17	40,913,446 (GRCm39)	nonsense	probably null
R4730:Esp4	UTSW	17	40,913,445 (GRCm39)	missense	unknown
R5750:Esp4	UTSW	17	40,913,286 (GRCm39)	missense	probably benign	0.36
R7196:Esp4	UTSW	17	40,913,256 (GRCm39)	missense	probably benign	0.07
R7980:Esp4	UTSW	17	40,913,192 (GRCm39)	missense	possibly damaging	0.71
R9024:Esp4	UTSW	17	40,911,102 (GRCm39)	start codon destroyed	unknown

Predicted Primers

Posted On

2014-01-15