Mutagenetix > Incidental Mutations

Incidental Mutation 'R3147:Amy1'

264274

Institutional Source

Beutler Lab

Gene Symbol

Amy1

Ensembl Gene

ENSMUSG00000074264

Gene Name

amylase 1, salivary

Synonyms

Amy-1

MMRRC Submission

040599-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.117) question?

Stock #

R3147 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113555710-113606699 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to C at 113570048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133875 (fasta)

Gene Model

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

AlphaFold

P00687

Predicted Effect

probably benign
Transcript: ENSMUST00000067980

SMART Domains

Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264

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

SMART Domains

Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264

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

SMART Domains

Protein: ENSMUSP00000120493
Gene: ENSMUSG00000074264

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

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

1x: 99.1%
3x: 98.6%
10x: 97.2%
20x: 94.7%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933436I01Rik	T	C	X: 67,921,378	D12G	probably benign	Het
Alg2	A	T	4: 47,472,259	V183D	probably damaging	Het
Asb15	G	T	6: 24,566,259	A404S	probably damaging	Het
Atf2	T	C	2: 73,850,939		probably null	Het
Baalc	A	T	15: 38,949,173	E106V	possibly damaging	Het
Catsperd	G	T	17: 56,664,039	C701F	possibly damaging	Het
Cc2d2a	T	A	5: 43,709,155	I769N	probably damaging	Het
Ccdc158	T	C	5: 92,657,963	N311S	probably damaging	Het
Dbx1	C	A	7: 49,636,549	R56L	probably damaging	Het
Eif4enif1	T	A	11: 3,244,003		probably null	Het
Elmod3	T	G	6: 72,586,502	T48P	probably benign	Het
Erbb2	T	C	11: 98,434,039	S820P	probably damaging	Het
Fam214a	A	G	9: 75,008,838	I240V	probably benign	Het
Gimap8	T	C	6: 48,650,506	V138A	probably damaging	Het
Hist1h1b	T	C	13: 21,780,115		probably benign	Het
Il6ra	G	T	3: 89,885,928	P305Q	probably benign	Het
Kcng3	A	G	17: 83,588,320	V239A	possibly damaging	Het
Kcnrg	T	C	14: 61,607,691	F60S	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lama1	A	G	17: 67,737,658	D184G	probably damaging	Het
Lhcgr	A	T	17: 88,758,343	L206Q	probably damaging	Het
Lhx3	T	C	2: 26,201,265	D344G	probably benign	Het
Marf1	A	G	16: 14,125,979	V1380A	possibly damaging	Het
Mtfr1	T	C	3: 19,217,210	V182A	probably benign	Het
Olfr305	A	G	7: 86,363,884	L151S	probably benign	Het
Olfr488	C	T	7: 108,255,676	G154D	possibly damaging	Het
Rsf1	CG	CGACGGAGGAG	7: 97,579,908		probably benign	Het
Snx4	A	C	16: 33,287,724	D296A	probably benign	Het
Soga1	T	G	2: 157,020,364	K1548N	possibly damaging	Het
Sox7	A	T	14: 63,948,634	Y373F	probably damaging	Het
Tuba1b	T	C	15: 98,932,505	T145A	probably benign	Het
Usp32	T	A	11: 85,029,087	N718I	probably damaging	Het
Wapl	G	A	14: 34,725,149	V648M	probably damaging	Het
Zfp85	C	T	13: 67,752,493	V10M	probably damaging	Het
Zgrf1	A	G	3: 127,584,148	N1014S	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
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

Predicted Primers

PCR Primer
(F):5'- AGGAGCTAAGTATCTCTCACATTCC -3'
(R):5'- CACATACATGTATTTCTGGAAAGGGC -3'

Sequencing Primer
(F):5'- TTCCTTAGCAATATCAACCCAGCG -3'
(R):5'- TTCTGGAAAGGGCTAATATTTCTTC -3'

Posted On

2015-02-05