Mutagenetix > Incidental Mutation

Incidental Mutation 'R4392:Esp34'

371117

Institutional Source

Beutler Lab

Gene Symbol

Esp34

Ensembl Gene

ENSMUSG00000092244

Gene Name

exocrine gland secreted peptide 34

Synonyms

Gm20410

MMRRC Submission

041127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R4392 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

38554192-38560621 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38559491 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 24 (V24A)

Ref Sequence

ENSEMBL: ENSMUSP00000136619 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000173055] [ENSMUST00000178654]

AlphaFold

G3UXG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173055
AA Change: V92A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133675
Gene: ENSMUSG00000092244
AA Change: V92A

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
Pfam:ESP	92	147	9.1e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178654
AA Change: V24A

PolyPhen 2 Score 0.511 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000136619
Gene: ENSMUSG00000092244
AA Change: V24A

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	30	44	N/A	INTRINSIC
low complexity region	77	83	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.5%
3x: 98.5%
10x: 96.1%
20x: 90.5%

Validation Efficiency

95% (69/73)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	C	T	14: 54,584,978 (GRCm38)		probably null	Het
Abca13	A	C	11: 9,309,034 (GRCm38)	K2920T	possibly damaging	Het
Amy2b	T	G	3: 113,149,408 (GRCm38)		noncoding transcript	Het
Anapc1	T	C	2: 128,676,249 (GRCm38)		probably null	Het
Bmp7	T	G	2: 172,916,542 (GRCm38)	D178A	probably benign	Het
Brsk1	T	A	7: 4,698,750 (GRCm38)	I170N	probably damaging	Het
Bub3	C	T	7: 131,566,335 (GRCm38)	A187V	probably benign	Het
Cacna2d2	A	G	9: 107,400,280 (GRCm38)	H71R	possibly damaging	Het
Cdrt4	A	T	11: 62,951,353 (GRCm38)	K20N	probably benign	Het
Clec12a	A	T	6: 129,353,464 (GRCm38)		probably benign	Het
Col12a1	T	A	9: 79,662,488 (GRCm38)	Y1600F	probably damaging	Het
Cyp2a12	T	A	7: 27,029,275 (GRCm38)	I57N	probably damaging	Het
Dip2b	T	C	15: 100,162,036 (GRCm38)	L223P	probably damaging	Het
Dnah5	G	A	15: 28,289,229 (GRCm38)	R1188H	probably benign	Het
Dopey1	T	C	9: 86,503,143 (GRCm38)		probably benign	Het
Efcab5	T	A	11: 77,090,458 (GRCm38)	N1354I	probably damaging	Het
Eif4b	T	A	15: 102,086,641 (GRCm38)		probably null	Het
Elmsan1	A	T	12: 84,173,111 (GRCm38)	D356E	probably benign	Het
Erlec1	A	G	11: 30,943,697 (GRCm38)		probably null	Het
Esp24	T	C	17: 39,040,077 (GRCm38)		probably benign	Het
Fbxw15	T	A	9: 109,568,232 (GRCm38)		probably benign	Het
Foxc2	T	C	8: 121,117,452 (GRCm38)	S280P	probably damaging	Het
Gm21738	G	C	14: 19,417,178 (GRCm38)	L117V	probably benign	Het
Grk3	A	G	5: 112,920,136 (GRCm38)	F467S	probably damaging	Het
Grwd1	C	T	7: 45,827,780 (GRCm38)	G228S	probably damaging	Het
Gtf2i	T	C	5: 134,260,629 (GRCm38)	E399G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524 (GRCm38)		probably null	Het
Homer3	G	A	8: 70,290,143 (GRCm38)		probably null	Het
Lhx4	A	G	1: 155,710,134 (GRCm38)	Y83H	probably damaging	Het
Mdga1	T	C	17: 29,850,656 (GRCm38)	T413A	probably damaging	Het
Mmrn2	T	A	14: 34,397,616 (GRCm38)	L184H	probably damaging	Het
Mroh2a	C	T	1: 88,259,589 (GRCm38)	R133C	probably damaging	Het
Myh13	A	C	11: 67,344,881 (GRCm38)		probably null	Het
Nkain3	C	A	4: 20,282,985 (GRCm38)	R116L	possibly damaging	Het
Nxph2	A	C	2: 23,400,272 (GRCm38)	Q212P	probably damaging	Het
Olfr268-ps1	T	C	2: 111,844,345 (GRCm38)		noncoding transcript	Het
Olfr726	A	G	14: 50,084,603 (GRCm38)	F26S	probably benign	Het
Otog	T	C	7: 46,285,124 (GRCm38)	Y1369H	probably damaging	Het
Prl	A	G	13: 27,064,351 (GRCm38)	I131V	possibly damaging	Het
Ptprg	A	T	14: 12,142,467 (GRCm38)	I373F	possibly damaging	Het
Rad18	A	T	6: 112,693,529 (GRCm38)	C25S	probably damaging	Het
Rgs12	A	G	5: 35,032,311 (GRCm38)	T678A	probably damaging	Het
Scaper	T	A	9: 55,858,115 (GRCm38)	E557V	probably damaging	Het
Scube3	C	T	17: 28,164,788 (GRCm38)	P511L	probably null	Het
Sgpl1	A	G	10: 61,104,452 (GRCm38)		probably benign	Het
Slc10a1	C	A	12: 80,967,804 (GRCm38)	E47D	probably damaging	Het
Sptbn4	T	C	7: 27,418,471 (GRCm38)	N369S	probably damaging	Het
Sstr5	T	C	17: 25,491,224 (GRCm38)	T344A	probably benign	Het
Tgm4	C	T	9: 123,066,752 (GRCm38)	T631I	probably benign	Het
Tmprss15	A	G	16: 79,024,438 (GRCm38)	Y457H	probably damaging	Het
Trpm7	A	T	2: 126,848,538 (GRCm38)	W207R	probably damaging	Het
Trpm7	A	T	2: 126,795,509 (GRCm38)		probably null	Het
Ttc26	A	G	6: 38,381,557 (GRCm38)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,211,984 (GRCm38)		probably benign	Het
Ugt1a10	C	T	1: 88,215,123 (GRCm38)	P113L	probably damaging	Het
Usp2	A	T	9: 44,091,259 (GRCm38)	H384L	probably damaging	Het
Vmn2r27	C	T	6: 124,230,176 (GRCm38)	V169I	probably benign	Het
Vopp1	A	C	6: 57,762,476 (GRCm38)	F29C	probably damaging	Het
Wrn	T	C	8: 33,251,832 (GRCm38)	D953G	probably damaging	Het
Zfp759	T	A	13: 67,139,643 (GRCm38)	C419*	probably null	Het

Other mutations in Esp34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1479:Esp34	UTSW	17	38,554,328 (GRCm38)	utr 5 prime	probably benign
R1854:Esp34	UTSW	17	38,559,533 (GRCm38)	missense	possibly damaging	0.85
R3908:Esp34	UTSW	17	38,559,641 (GRCm38)	missense	possibly damaging	0.92
R4013:Esp34	UTSW	17	38,559,555 (GRCm38)	nonsense	probably null
R6008:Esp34	UTSW	17	38,554,227 (GRCm38)	utr 5 prime	probably benign
R7522:Esp34	UTSW	17	38,559,541 (GRCm38)	missense	possibly damaging	0.71
R7532:Esp34	UTSW	17	38,559,620 (GRCm38)	missense	possibly damaging	0.93
R7554:Esp34	UTSW	17	38,555,891 (GRCm38)	missense	probably benign	0.02
R7686:Esp34	UTSW	17	38,559,643 (GRCm38)	missense	possibly damaging	0.71
R8008:Esp34	UTSW	17	38,559,599 (GRCm38)	missense	possibly damaging	0.71
R8827:Esp34	UTSW	17	38,554,200 (GRCm38)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGACCTCCCATTTGAGTTATC -3'
(R):5'- AAGGCACTGCATAAGTTCTACTC -3'

Sequencing Primer
(F):5'- GAGTTATCCCTCAAGTTAAGCCC -3'
(R):5'- TGCATAAGTTCTACTCATACAAACAC -3'

Posted On

2016-02-19