Mutagenetix > Incidental Mutation

Incidental Mutation 'R3904:Esp3'

309117

Institutional Source

Beutler Lab

Gene Symbol

Esp3

Ensembl Gene

ENSMUSG00000093957

Gene Name

exocrine gland secreted peptide 3

Synonyms

Gm21945

MMRRC Submission

040812-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R3904 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40942966-40947951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40946820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 48 (T48S)

Ref Sequence

ENSEMBL: ENSMUSP00000136597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177574]

AlphaFold

J3QN49

Predicted Effect

possibly damaging
Transcript: ENSMUST00000177574
AA Change: T48S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136597
Gene: ENSMUSG00000093957
AA Change: T48S

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
Pfam:ESP	44	87	2.5e-22	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	C	3: 137,772,400 (GRCm39)	I530L	probably benign	Het
5930422O12Rik	T	C	8: 33,919,467 (GRCm39)	S96P	probably damaging	Het
Acot4	A	G	12: 84,090,101 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,598,660 (GRCm39)	D1631G	probably benign	Het
Amd1	C	T	10: 40,166,453 (GRCm39)	R210H	probably benign	Het
Amt	C	T	9: 108,174,420 (GRCm39)	R62C	possibly damaging	Het
Anapc1	A	G	2: 128,484,439 (GRCm39)	F1175S	probably damaging	Het
Ano4	A	G	10: 88,860,867 (GRCm39)	F337S	probably damaging	Het
Bub1	A	C	2: 127,663,862 (GRCm39)	I207S	probably benign	Het
Cfap53	T	A	18: 74,440,445 (GRCm39)	L405M	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a1	C	T	10: 76,547,175 (GRCm39)	R730H	unknown	Het
Fmo1	G	T	1: 162,661,337 (GRCm39)	N315K	possibly damaging	Het
Fsip2l	T	C	X: 47,930,421 (GRCm39)	N649S	possibly damaging	Het
Impg1	A	G	9: 80,252,867 (GRCm39)	S438P	possibly damaging	Het
Jsrp1	T	A	10: 80,648,246 (GRCm39)	M1L	probably benign	Het
Klra14-ps	T	A	6: 130,129,512 (GRCm39)		noncoding transcript	Het
Mrm3	A	G	11: 76,135,112 (GRCm39)	M108V	probably benign	Het
Mtf2	T	A	5: 108,228,866 (GRCm39)	F61I	probably damaging	Het
Nat10	A	T	2: 103,556,592 (GRCm39)		probably benign	Het
Or2y10	T	C	11: 49,455,585 (GRCm39)	I279T	possibly damaging	Het
Or7c70	T	G	10: 78,683,132 (GRCm39)	I206L	probably benign	Het
Pcgf5	T	C	19: 36,417,495 (GRCm39)	I140T	probably damaging	Het
Pfpl	T	C	19: 12,407,801 (GRCm39)	L684P	probably benign	Het
Psmd10	T	C	X: 139,850,052 (GRCm39)	*152W	probably null	Het
Ptpn23	A	C	9: 110,218,313 (GRCm39)	M600R	probably benign	Het
Pxmp4	C	T	2: 154,429,969 (GRCm39)	R140H	probably damaging	Het
Rnf112	T	C	11: 61,341,211 (GRCm39)	E410G	probably damaging	Het
Samd9l	T	A	6: 3,376,830 (GRCm39)	K144*	probably null	Het
Shld2	A	G	14: 33,981,666 (GRCm39)	W491R	probably damaging	Het
Slc46a3	C	T	5: 147,823,264 (GRCm39)	E193K	probably benign	Het
Snap23	A	C	2: 120,429,815 (GRCm39)	D209A	possibly damaging	Het
Tg	C	T	15: 66,638,011 (GRCm39)	Q656*	probably null	Het
Tshz2	A	G	2: 169,726,307 (GRCm39)	Y301C	probably damaging	Het
Ttn	T	A	2: 76,670,638 (GRCm39)		probably benign	Het
Unc80	C	T	1: 66,678,455 (GRCm39)	Q2011*	probably null	Het
Vwa3a	A	G	7: 120,358,099 (GRCm39)	T57A	probably benign	Het
Zfp518a	C	T	19: 40,903,364 (GRCm39)	Q1098*	probably null	Het

Other mutations in Esp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1531:Esp3	UTSW	17	40,946,827 (GRCm39)	missense	possibly damaging	0.95
R4459:Esp3	UTSW	17	40,944,478 (GRCm39)	missense	probably null	0.05
R4868:Esp3	UTSW	17	40,944,420 (GRCm39)	missense	possibly damaging	0.82
R5775:Esp3	UTSW	17	40,944,468 (GRCm39)	missense	possibly damaging	0.89
R8670:Esp3	UTSW	17	40,943,040 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTGTGGGTATGACAACCTAGGC -3'
(R):5'- CCAAGACTTGTTTTGGTTACCATTG -3'

Sequencing Primer
(F):5'- TGGGTATGACAACCTAGGCTTAGAC -3'
(R):5'- TTGGCCAGGTCTTCAAACAAAG -3'

Posted On

2015-04-17