Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02415:Amy1'

292389

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Amy1

Ensembl Gene

ENSMUSG00000074264

Gene Name

amylase 1, salivary

Synonyms

Amy-1

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL02415

Quality Score

Status

Chromosome

Chromosomal Location

113555710-113606699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113563585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 202 (I202V)

Ref Sequence

ENSEMBL: ENSMUSP00000120493 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067980] [ENSMUST00000106540] [ENSMUST00000142505] [ENSMUST00000174147]

AlphaFold

P00687

Predicted Effect

probably benign
Transcript: ENSMUST00000067980
AA Change: I202V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: I202V

Domain	Start	End	E-Value	Type
Aamy	26	413	6.31e-97	SMART
Aamy_C	422	510	4.02e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106540
AA Change: I202V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: I202V

Domain	Start	End	E-Value	Type
Aamy	26	413	6.31e-97	SMART
Aamy_C	422	510	4.02e-49	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000142505
AA Change: I202V

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000120493
Gene: ENSMUSG00000074264
AA Change: I202V

Domain	Start	End	E-Value	Type
Pfam:Alpha-amylase	36	271	1.4e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172885

Predicted Effect

probably benign
Transcript: ENSMUST00000174147

SMART Domains

Protein: ENSMUSP00000133875
Gene: ENSMUSG00000074264

Domain	Start	End	E-Value	Type
Pfam:Alpha-amylase	35	129	2e-10	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the alpha-amylase family of proteins. Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, catalyzing the first step in digestion of dietary starch and glycogen. This gene and several family members are present in a gene cluster on chromosome 1. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,947,991	D124G	probably benign	Het
Adamts13	T	A	2: 26,989,283	I616N	possibly damaging	Het
Adamts3	T	C	5: 89,706,647		probably null	Het
Bdp1	G	A	13: 100,089,408	T322I	probably damaging	Het
Cep295	A	G	9: 15,353,020	L110S	probably damaging	Het
Cep72	T	C	13: 74,050,154	D369G	probably benign	Het
Chd3	A	T	11: 69,348,913		probably benign	Het
Ckmt2	G	A	13: 91,863,340		probably benign	Het
Cyp2s1	T	C	7: 25,808,137	T296A	probably damaging	Het
E2f5	T	A	3: 14,603,897	V283E	probably benign	Het
F5	A	G	1: 164,191,929	T658A	probably damaging	Het
Fam102b	A	G	3: 108,980,292	Y219H	probably damaging	Het
Gml	A	T	15: 74,816,440	Y59*	probably null	Het
Kmo	A	T	1: 175,649,323		probably benign	Het
Krt25	A	T	11: 99,322,572	I107N	probably damaging	Het
Llgl2	A	G	11: 115,853,285	M773V	probably damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Med12	T	C	X: 101,281,790	V761A	probably damaging	Het
Mrpl19	T	C	6: 81,963,961	T150A	probably benign	Het
Muc2	G	T	7: 141,751,872	E646*	probably null	Het
Muc20	T	A	16: 32,794,681	T109S	unknown	Het
Nr2f6	T	C	8: 71,374,512	T382A	probably benign	Het
Nrap	A	G	19: 56,382,309	I172T	probably damaging	Het
Olfr1434	A	G	19: 12,283,498	Y150C	probably benign	Het
Olfr911-ps1	T	C	9: 38,524,112	C127R	probably benign	Het
P3h1	A	T	4: 119,247,955	Q710L	probably benign	Het
Parvb	A	G	15: 84,292,815	H185R	probably damaging	Het
Pkhd1	A	G	1: 20,414,421	I1970T	probably damaging	Het
Pkhd1	T	C	1: 20,522,759	Y1710C	probably damaging	Het
Plxna2	C	A	1: 194,643,964	R69S	probably damaging	Het
Rad51ap2	A	G	12: 11,456,929	N284S	possibly damaging	Het
Reln	T	A	5: 21,971,951	S1906C	possibly damaging	Het
Rln1	T	C	19: 29,334,398	R67G	probably damaging	Het
Shcbp1	C	T	8: 4,754,239	V224I	possibly damaging	Het
Slc13a4	A	G	6: 35,283,237		probably null	Het
Stx6	A	G	1: 155,193,313	E195G	possibly damaging	Het
Sult2b1	G	T	7: 45,742,085	D90E	possibly damaging	Het
Taok1	A	G	11: 77,540,240		probably benign	Het
Tbx15	A	T	3: 99,352,510	M566L	probably benign	Het
Tcaf1	C	T	6: 42,686,650	A99T	probably benign	Het
Tcf20	T	A	15: 82,853,459	M1264L	probably benign	Het
Tenm4	G	A	7: 96,874,074	V1571M	probably damaging	Het
Ttc39a	A	G	4: 109,431,529		probably benign	Het
Ubr1	C	A	2: 120,970,603		probably benign	Het
Ulk1	T	C	5: 110,787,621	D926G	probably damaging	Het
Vmn2r110	T	C	17: 20,583,771	I181V	probably benign	Het
Vmn2r66	G	A	7: 85,006,812	T332I	probably damaging	Het
Wdr1	C	A	5: 38,531,110	D161Y	probably damaging	Het
Wnt7a	T	C	6: 91,394,557	Y141C	probably damaging	Het
Xrra1	G	A	7: 99,915,943	E573K	probably benign	Het
Zfp334	G	T	2: 165,381,851	Q91K	possibly damaging	Het

Other mutations in Amy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Amy1	APN	3	113556132	missense	probably damaging	1.00
IGL00966:Amy1	APN	3	113556040	missense	probably benign	0.00
IGL01153:Amy1	APN	3	113556075	missense	possibly damaging	0.69
IGL02555:Amy1	APN	3	113564892	missense	probably benign	0.01
IGL02572:Amy1	APN	3	113565073	splice site	probably benign
IGL03215:Amy1	APN	3	113556000	missense	probably benign
R0196:Amy1	UTSW	3	113569421	missense	probably benign
R0230:Amy1	UTSW	3	113558430	missense	probably benign	0.02
R0586:Amy1	UTSW	3	113562769	unclassified	probably benign
R1789:Amy1	UTSW	3	113558165	missense	possibly damaging	0.56
R1823:Amy1	UTSW	3	113562727	missense	probably null
R1922:Amy1	UTSW	3	113564895	missense	probably damaging	0.97
R2080:Amy1	UTSW	3	113558094	missense	probably benign	0.01
R3147:Amy1	UTSW	3	113570048	start gained	probably benign
R3437:Amy1	UTSW	3	113556009	missense	probably damaging	1.00
R4961:Amy1	UTSW	3	113561849	missense	probably damaging	1.00
R4977:Amy1	UTSW	3	113569377	splice site	probably null
R5304:Amy1	UTSW	3	113558364	missense	probably damaging	1.00
R5500:Amy1	UTSW	3	113562722	missense	probably damaging	1.00
R5503:Amy1	UTSW	3	113556060	missense	probably benign	0.26
R5706:Amy1	UTSW	3	113556120	missense	probably damaging	0.99
R5866:Amy1	UTSW	3	113561920	missense	possibly damaging	0.93
R5956:Amy1	UTSW	3	113563662	missense	probably benign	0.04
R6110:Amy1	UTSW	3	113561900	missense	probably damaging	1.00
R6259:Amy1	UTSW	3	113569410	missense	possibly damaging	0.73
R6278:Amy1	UTSW	3	113561690	missense	probably damaging	1.00
R6429:Amy1	UTSW	3	113569509	missense	probably damaging	1.00
R6893:Amy1	UTSW	3	113563632	missense	probably benign	0.00
R7136:Amy1	UTSW	3	113563599	missense	probably damaging	1.00
R7463:Amy1	UTSW	3	113569884	nonsense	probably null
R9193:Amy1	UTSW	3	113562629	missense	probably benign	0.22
Z1177:Amy1	UTSW	3	113558353	missense	probably damaging	1.00

Posted On

2015-04-16