Mutagenetix > Incidental Mutation

Incidental Mutation 'R3701:Esp38'

258542

Institutional Source

Beutler Lab

Gene Symbol

Esp38

Ensembl Gene

ENSMUSG00000095886

Gene Name

exocrine gland secreted peptide 38

Synonyms

Gm21946

MMRRC Submission

040694-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R3701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40261411-40266178 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 40266112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 74 (R74*)

Ref Sequence

ENSEMBL: ENSMUSP00000136698 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178880]

AlphaFold

A0A3B2W3Y6

Predicted Effect

probably null
Transcript: ENSMUST00000178880
AA Change: R74*

SMART Domains

Protein: ENSMUSP00000136698
Gene: ENSMUSG00000095886
AA Change: R74*

Domain	Start	End	E-Value	Type
Pfam:ESP	24	80	2.7e-17	PFAM

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	C	15: 74,416,864 (GRCm39)	K757T	probably damaging	Het
Akr1c19	C	T	13: 4,293,032 (GRCm39)	R263C	probably damaging	Het
Asxl1	A	G	2: 153,241,264 (GRCm39)	T605A	probably benign	Het
Cacna1i	A	T	15: 80,265,272 (GRCm39)		probably benign	Het
Clip4	A	G	17: 72,106,003 (GRCm39)	D62G	probably damaging	Het
Cstf1	A	G	2: 172,222,312 (GRCm39)	T357A	probably benign	Het
Cul5	T	C	9: 53,540,516 (GRCm39)	K499E	probably damaging	Het
Cyld	T	A	8: 89,456,179 (GRCm39)	S407T	probably benign	Het
Dnph1	G	A	17: 46,809,637 (GRCm39)	G101S	possibly damaging	Het
Entrep1	T	C	19: 23,956,831 (GRCm39)	E354G	probably benign	Het
Fdxr	A	T	11: 115,160,527 (GRCm39)	L336Q	probably damaging	Het
Hivep1	T	C	13: 42,311,203 (GRCm39)	S1148P	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Itgb1bp2	T	C	X: 100,495,293 (GRCm39)		probably benign	Het
Kcnj5	T	C	9: 32,229,124 (GRCm39)	T25A	possibly damaging	Het
Lyn	A	G	4: 3,742,455 (GRCm39)	H28R	probably benign	Het
Nbeal1	C	T	1: 60,290,572 (GRCm39)		probably benign	Het
Nmur2	A	G	11: 55,931,603 (GRCm39)	L36P	probably damaging	Het
Or14j3	G	A	17: 37,900,717 (GRCm39)	Q176*	probably null	Het
Or6c5c	A	T	10: 129,298,821 (GRCm39)	Y92F	probably damaging	Het
Or9i14	T	G	19: 13,792,712 (GRCm39)	I81L	probably benign	Het
Pdgfra	T	A	5: 75,340,881 (GRCm39)	Y613*	probably null	Het
Phka2	T	C	X: 159,316,045 (GRCm39)	V230A	possibly damaging	Het
Pkd2l1	A	G	19: 44,145,666 (GRCm39)	S186P	probably damaging	Het
Skic3	T	C	13: 76,261,798 (GRCm39)	I171T	probably benign	Het
Snx14	T	C	9: 88,302,296 (GRCm39)		probably benign	Het
Tex15	T	C	8: 34,064,194 (GRCm39)	V1208A	probably benign	Het
Tmf1	A	G	6: 97,149,292 (GRCm39)	F485S	possibly damaging	Het
Tnfsf4	G	A	1: 161,244,778 (GRCm39)	V156I	possibly damaging	Het
Trdn	C	A	10: 33,210,980 (GRCm39)	Q391K	probably damaging	Het
Ttc34	T	C	4: 154,949,939 (GRCm39)	F964S	probably damaging	Het
Vmn2r104	A	G	17: 20,249,818 (GRCm39)	S818P	probably damaging	Het
Zbed5	G	A	5: 129,932,000 (GRCm39)	D650N	possibly damaging	Het
Zfp446	G	A	7: 12,712,079 (GRCm39)		probably benign	Het
Zfp592	C	T	7: 80,687,159 (GRCm39)	R821*	probably null	Het
Zfp647	G	A	15: 76,795,110 (GRCm39)	R517W	probably damaging	Het
Zfp983	G	C	17: 21,880,455 (GRCm39)	E128Q	probably damaging	Het

Other mutations in Esp38

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2139:Esp38	UTSW	17	40,264,275 (GRCm39)	missense	probably damaging	0.98
R4956:Esp38	UTSW	17	40,266,053 (GRCm39)	missense	probably damaging	0.99
R6026:Esp38	UTSW	17	40,266,032 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGCCTTGCATTGATGGCC -3'
(R):5'- TGTCTTGGACACTAGGAGGCTC -3'

Sequencing Primer
(F):5'- GCCTTGCATTGATGGCCTATTC -3'
(R):5'- GCCCTTGAGTGATAATGAAG -3'

Posted On

2015-01-23