Mutagenetix > Incidental Mutation

Incidental Mutation 'R3412:Esp24'

267783

Institutional Source

Beutler Lab

Gene Symbol

Esp24

Ensembl Gene

ENSMUSG00000095625

Gene Name

exocrine gland secreted peptide 24

Synonyms

Gm21947

MMRRC Submission

040630-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R3412 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

39347586-39351118 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 39349207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 11 (I11N)

Ref Sequence

ENSEMBL: ENSMUSP00000137640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178039] [ENSMUST00000180245]

AlphaFold

A8R0V6

Predicted Effect

probably benign
Transcript: ENSMUST00000178039

Predicted Effect

possibly damaging
Transcript: ENSMUST00000180245
AA Change: I11N

PolyPhen 2 Score 0.730 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137640
Gene: ENSMUSG00000095625
AA Change: I11N

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ESP	24	63	3e-11	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	T	C	13: 8,802,654 (GRCm39)	F643S	probably damaging	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Arhgef5	A	G	6: 43,250,724 (GRCm39)	I492V	probably benign	Het
Atp8b4	C	A	2: 126,217,677 (GRCm39)	W613L	probably damaging	Het
Ccdc162	T	C	10: 41,415,545 (GRCm39)		probably benign	Het
Duxf4	G	A	10: 58,072,175 (GRCm39)	T13I	possibly damaging	Het
Exoc4	A	G	6: 33,242,910 (GRCm39)	E41G	probably damaging	Het
Eya1	T	A	1: 14,344,433 (GRCm39)		probably null	Het
Gckr	T	A	5: 31,458,211 (GRCm39)		probably null	Het
Gria4	T	A	9: 4,513,278 (GRCm39)	D277V	probably benign	Het
Il18r1	A	T	1: 40,530,227 (GRCm39)	D318V	probably damaging	Het
Il4i1	T	C	7: 44,486,082 (GRCm39)	L22P	probably damaging	Het
Inpp5d	C	A	1: 87,595,779 (GRCm39)	T175N	possibly damaging	Het
Krt90	T	A	15: 101,469,028 (GRCm39)	L171F	probably damaging	Het
Mthfd1	A	G	12: 76,350,523 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,423,962 (GRCm39)	L77P	possibly damaging	Het
Or51q1	T	C	7: 103,628,609 (GRCm39)	L76P	probably damaging	Het
Or5an1c	T	C	19: 12,218,954 (GRCm39)	I24V	probably benign	Het
Or6c1b	A	T	10: 129,273,176 (GRCm39)	D165V	probably damaging	Het
Pla2g4f	T	C	2: 120,133,587 (GRCm39)	S579G	probably benign	Het
Ppef2	T	G	5: 92,376,581 (GRCm39)	S649R	probably damaging	Het
Prss43	G	C	9: 110,658,532 (GRCm39)	Q277H	probably damaging	Het
Ramp2	TTGCTGCTGCTGCTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGCTG	11: 101,137,371 (GRCm39)		probably benign	Het
Rusc2	T	G	4: 43,415,935 (GRCm39)	S414A	probably damaging	Het
Sez6l	A	G	5: 112,623,227 (GRCm39)	L108P	possibly damaging	Het
Slc12a5	A	G	2: 164,810,351 (GRCm39)	D10G	probably benign	Het
Slc1a7	A	G	4: 107,868,191 (GRCm39)	E497G	probably benign	Het
Sos1	T	C	17: 80,714,146 (GRCm39)	D1108G	probably benign	Het
Spag8	T	A	4: 43,651,606 (GRCm39)	S423C	probably damaging	Het
Tacc2	A	G	7: 130,336,724 (GRCm39)	T2369A	probably benign	Het
Taok2	T	C	7: 126,470,030 (GRCm39)	I933V	possibly damaging	Het
Tex9	C	A	9: 72,385,040 (GRCm39)	Q265H	possibly damaging	Het
Trim69	T	C	2: 122,009,125 (GRCm39)	V395A	probably benign	Het
Tusc1	C	A	4: 93,223,173 (GRCm39)	R162L	probably damaging	Het
Ubr5	T	C	15: 38,004,479 (GRCm39)		probably benign	Het
Utp25	A	C	1: 192,810,810 (GRCm39)	S64R	possibly damaging	Het
Zfyve28	C	T	5: 34,357,028 (GRCm39)	M723I	probably benign	Het
Zmynd8	A	T	2: 165,657,371 (GRCm39)	M533K	probably damaging	Het

Other mutations in Esp24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1491:Esp24	UTSW	17	39,349,176 (GRCm39)	start codon destroyed	probably null	0.01
R1753:Esp24	UTSW	17	39,350,893 (GRCm39)	missense	possibly damaging	0.85
R2991:Esp24	UTSW	17	39,350,894 (GRCm39)	missense	possibly damaging	0.51
R4392:Esp24	UTSW	17	39,350,968 (GRCm39)	unclassified	probably benign
R5413:Esp24	UTSW	17	39,350,893 (GRCm39)	missense	possibly damaging	0.71
R6088:Esp24	UTSW	17	39,350,901 (GRCm39)	missense	probably benign	0.03
R6627:Esp24	UTSW	17	39,350,952 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTGCAAATACAAACCTGAGGC -3'
(R):5'- ATCACCCTTTGATATGCTCTAAGAC -3'

Sequencing Primer
(F):5'- GAGGCATCAGTAAAGTTGTTTAGCC -3'
(R):5'- GCTCTAAGACTACCTCAAAATGTG -3'

Posted On

2015-02-18