Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Esp4'

304666

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esp4

Ensembl Gene

ENSMUSG00000095540

Gene Name

exocrine gland secreted peptide 4

Synonyms

Gm20580

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02713

Quality Score

Status

Chromosome

Chromosomal Location

40909485-40913509 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40913297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 55 (F55L)

Ref Sequence

ENSEMBL: ENSMUSP00000136092 (fasta)

Gene Model

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

AlphaFold

A8R0T8

Predicted Effect

probably benign
Transcript: ENSMUST00000178498
AA Change: F55L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000136092
Gene: ENSMUSG00000095540
AA Change: F55L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,749,992 (GRCm39)	T1588A	possibly damaging	Het
Apeh	A	T	9: 107,962,871 (GRCm39)	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,393,286 (GRCm39)	I2272T	probably damaging	Het
Best3	T	G	10: 116,860,434 (GRCm39)	F565V	probably benign	Het
Birc6	A	G	17: 74,886,319 (GRCm39)	N521S	probably benign	Het
Cd209f	T	A	8: 4,153,732 (GRCm39)	R191S	probably benign	Het
Clec4e	A	T	6: 123,263,263 (GRCm39)	Y63*	probably null	Het
Cracdl	C	A	1: 37,663,218 (GRCm39)	K893N	possibly damaging	Het
Cyp26c1	C	T	19: 37,681,667 (GRCm39)	T490M	probably damaging	Het
Cyp2b9	T	A	7: 25,872,945 (GRCm39)	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,290,283 (GRCm39)		probably benign	Het
Dgat1	C	A	15: 76,387,734 (GRCm39)	R291L	probably damaging	Het
Dyrk1a	C	A	16: 94,486,204 (GRCm39)		probably benign	Het
Fam227a	G	A	15: 79,520,997 (GRCm39)		probably benign	Het
Ggt1	T	C	10: 75,410,178 (GRCm39)	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,820,589 (GRCm39)	I64K	probably damaging	Het
Itga6	C	T	2: 71,647,057 (GRCm39)	T89I	possibly damaging	Het
Jph2	T	C	2: 163,217,837 (GRCm39)	T280A	probably damaging	Het
Lipm	A	G	19: 34,078,570 (GRCm39)	M1V	probably null	Het
Nbeal1	C	T	1: 60,274,396 (GRCm39)	A513V	possibly damaging	Het
Or10a3	G	A	7: 108,480,060 (GRCm39)	T251I	probably damaging	Het
Or10a48	A	T	7: 108,424,801 (GRCm39)	M135K	probably damaging	Het
Or10q1b	A	T	19: 13,682,553 (GRCm39)	I121F	possibly damaging	Het
Or13a28	A	T	7: 140,217,829 (GRCm39)	I72F	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or8b101	C	T	9: 38,020,623 (GRCm39)	P214S	probably damaging	Het
Orc6	A	G	8: 86,034,215 (GRCm39)	E146G	probably benign	Het
Patl2	A	G	2: 121,956,328 (GRCm39)	S179P	probably benign	Het
Pdzd8	C	A	19: 59,333,890 (GRCm39)	G44C	probably damaging	Het
Phox2b	A	G	5: 67,253,938 (GRCm39)		probably benign	Het
Ppp4r3b	T	G	11: 29,138,445 (GRCm39)	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,468,807 (GRCm39)	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,493,323 (GRCm39)	I842N	probably damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Sgca	T	A	11: 94,862,131 (GRCm39)	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,311,912 (GRCm39)	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stard13	G	A	5: 150,965,651 (GRCm39)	Q935*	probably null	Het
Suds3	C	T	5: 117,232,970 (GRCm39)		probably null	Het
Sv2b	A	T	7: 74,773,911 (GRCm39)	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,587,125 (GRCm39)	F191S	probably damaging	Het

Other mutations in Esp4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1148:Esp4	UTSW	17	40,913,262 (GRCm39)	missense	probably benign	0.03
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

Posted On

2015-04-16