Mutagenetix > Incidental Mutations

Incidental Mutation 'R3437:Amy1'

267221

Institutional Source

Beutler Lab

Gene Symbol

Amy1

Ensembl Gene

ENSMUSG00000074264

Gene Name

amylase 1, salivary

Synonyms

Amy-1

MMRRC Submission

040655-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

R3437 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113555710-113606699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 113556009 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 504 (A504V)

Ref Sequence

ENSEMBL: ENSMUSP00000102150 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000067980
AA Change: A504V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: A504V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000106540
AA Change: A504V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: A504V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172885

Meta Mutation Damage Score

0.5222

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (42/42)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	G	6: 121,639,294	L127R	probably null	Het
Ambp	T	C	4: 63,149,484	E163G	probably benign	Het
Angptl3	A	T	4: 99,033,303	K219N	probably benign	Het
Atp6v1g1	A	G	4: 63,550,018	N86S	probably benign	Het
Avl9	T	C	6: 56,736,627	V290A	probably benign	Het
Bad	A	G	19: 6,942,431	R37G	probably benign	Het
Bicra	T	C	7: 15,989,298	D98G	possibly damaging	Het
Col4a4	G	A	1: 82,497,168	T650M	unknown	Het
Cyp11b2	T	C	15: 74,855,449	R128G	probably benign	Het
Dst	T	C	1: 34,190,222	S1974P	probably damaging	Het
Fabp1	T	C	6: 71,201,611	L24P	probably benign	Het
Flnb	T	C	14: 7,942,057	V2345A	probably damaging	Het
Gmnc	G	T	16: 26,960,467	H221Q	probably benign	Het
Homer1	T	C	13: 93,366,421		probably benign	Het
Kit	A	G	5: 75,645,905	D690G	probably damaging	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Mc3r	C	T	2: 172,249,668	T270I	probably benign	Het
Mrgpra3	A	C	7: 47,589,566	L204W	probably damaging	Het
Mroh1	C	T	15: 76,433,608	T839I	possibly damaging	Het
Naip2	T	A	13: 100,154,911	H1173L	probably benign	Het
Olfr136	A	G	17: 38,335,432	I92V	probably damaging	Het
Olfr312	A	T	11: 58,831,324	M57L	probably damaging	Het
Optc	T	C	1: 133,897,879	D303G	probably damaging	Het
P4ha3	C	T	7: 100,285,624	A31V	possibly damaging	Het
Plch2	A	G	4: 154,991,013		probably null	Het
Plpp2	A	T	10: 79,527,813		probably null	Het
Polq	A	T	16: 37,062,337	N1342I	probably damaging	Het
Pter	T	A	2: 13,000,994	L326H	probably benign	Het
Pwwp2a	C	T	11: 43,706,188	Q452*	probably null	Het
Slc8a2	T	G	7: 16,158,885	V824G	probably damaging	Het
Slfn2	A	T	11: 83,069,564	H123L	probably benign	Het
Tmem132e	A	G	11: 82,444,330	Y654C	probably damaging	Het
Trim14	C	T	4: 46,523,739	V100I	possibly damaging	Het
Tro	G	A	X: 150,646,256		probably benign	Het
Uspl1	T	A	5: 149,214,697		probably benign	Het
Uty	A	G	Y: 1,158,336	I522T	probably benign	Het
Vmn1r120	A	C	7: 21,053,657	L43W	probably damaging	Het
Vmn2r16	A	T	5: 109,330,496	D39V	probably damaging	Het
Washc4	T	A	10: 83,570,002	I454N	probably benign	Het
Wdr66	A	G	5: 123,254,372		probably benign	Het
Wnt16	T	C	6: 22,298,134	V333A	probably damaging	Het
Ylpm1	T	C	12: 85,049,870		probably null	Het
Zfy1	A	T	Y: 726,357	D469E	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
IGL02415:Amy1	APN	3	113563585	missense	probably benign	0.27
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
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
Z1177:Amy1	UTSW	3	113558353	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGGATGGCTTCACAAATATGAG -3'
(R):5'- TTTTCAGGGCTTTGTCAGAAAC -3'

Sequencing Primer
(F):5'- TCAAAATCCTGGGTGTAATTTTCTC -3'
(R):5'- CAGAAACTTTACAGACTGGTCTTCC -3'

Posted On

2015-02-18