Mutagenetix > Incidental Mutation

Incidental Mutation 'R4961:Amy1'

381746

Institutional Source

Beutler Lab

Gene Symbol

Amy1

Ensembl Gene

ENSMUSG00000074264

Gene Name

amylase 1, salivary

Synonyms

Amy-1

MMRRC Submission

042558-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.126) question?

Stock #

R4961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113349601-113371399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113355498 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 326 (S326P)

Ref Sequence

ENSEMBL: ENSMUSP00000102150 (fasta)

Gene Model

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

AlphaFold

P00687

Predicted Effect

probably damaging
Transcript: ENSMUST00000067980
AA Change: S326P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: S326P

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: S326P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: S326P

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

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

Meta Mutation Damage Score

0.2800

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.3%
20x: 88.3%

Validation Efficiency

95% (62/65)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,349,855 (GRCm39)	K65E	probably damaging	Het
Acp5	C	A	9: 22,041,233 (GRCm39)	A65S	probably benign	Het
Adad2	G	A	8: 120,342,397 (GRCm39)	R345H	probably damaging	Het
Adamts7	G	T	9: 90,067,793 (GRCm39)	G428W	probably damaging	Het
Ankrd44	C	T	1: 54,703,071 (GRCm39)	D482N	probably damaging	Het
Anks6	C	T	4: 47,030,795 (GRCm39)	G601S	probably damaging	Het
Ano8	G	C	8: 71,935,640 (GRCm39)	P326R	probably damaging	Het
Arhgef26	A	G	3: 62,367,046 (GRCm39)	E793G	probably damaging	Het
Cd9	A	T	6: 125,440,703 (GRCm39)	V96E	probably damaging	Het
Cdh9	A	G	15: 16,850,914 (GRCm39)	N561S	probably benign	Het
Col16a1	G	A	4: 129,948,272 (GRCm39)		probably null	Het
Cpne7	G	A	8: 123,860,498 (GRCm39)	G484R	probably damaging	Het
Dcun1d4	A	T	5: 73,701,463 (GRCm39)	K194*	probably null	Het
Dock3	A	G	9: 106,818,515 (GRCm39)	V1193A	probably damaging	Het
Dst	A	G	1: 34,007,904 (GRCm39)	R113G	possibly damaging	Het
Epha5	A	T	5: 84,381,502 (GRCm39)	S450T	probably damaging	Het
Gm5581	A	T	6: 131,144,190 (GRCm39)		noncoding transcript	Het
Grhl3	A	G	4: 135,279,918 (GRCm39)	Y379H	probably damaging	Het
Herpud1	T	C	8: 95,117,454 (GRCm39)	S13P	probably benign	Het
Jam2	C	T	16: 84,606,435 (GRCm39)	Q150*	probably null	Het
Jph2	C	G	2: 163,217,668 (GRCm39)	R336P	probably damaging	Het
Kansl3	T	A	1: 36,387,764 (GRCm39)		probably null	Het
Kctd1	G	A	18: 15,195,580 (GRCm39)	P348S	probably damaging	Het
Klhl30	T	A	1: 91,285,106 (GRCm39)	S321T	possibly damaging	Het
Klhl5	T	C	5: 65,310,033 (GRCm39)		probably benign	Het
Letm2	T	C	8: 26,084,108 (GRCm39)	H41R	possibly damaging	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Map1b	T	C	13: 99,572,161 (GRCm39)	T187A	probably damaging	Het
Marveld2	T	C	13: 100,748,431 (GRCm39)	N216S	probably benign	Het
Matn1	A	G	4: 130,680,234 (GRCm39)	Y437C	probably damaging	Het
Oas1h	T	C	5: 121,009,159 (GRCm39)	Y290H	probably damaging	Het
Ofcc1	A	G	13: 40,417,035 (GRCm39)		probably null	Het
Or2m12	C	A	16: 19,104,726 (GRCm39)	G256W	probably damaging	Het
Or4k51	A	T	2: 111,584,750 (GRCm39)	D52V	probably damaging	Het
Or8g34	A	G	9: 39,373,183 (GRCm39)	Y152C	probably damaging	Het
Otof	C	A	5: 30,540,837 (GRCm39)		probably benign	Het
Pcdh15	G	T	10: 74,215,249 (GRCm39)		probably null	Het
Pgk2	G	A	17: 40,518,412 (GRCm39)	P339S	probably damaging	Het
Piezo2	T	C	18: 63,186,032 (GRCm39)		probably null	Het
Prex2	A	G	1: 11,168,705 (GRCm39)	T234A	possibly damaging	Het
Rasgrf1	C	T	9: 89,826,922 (GRCm39)	T177M	probably benign	Het
Rgs1	A	T	1: 144,124,309 (GRCm39)		probably null	Het
Snx25	T	C	8: 46,521,229 (GRCm39)	N239S	probably damaging	Het
Spata31d1a	T	A	13: 59,849,716 (GRCm39)	H804L	possibly damaging	Het
Spon2	A	T	5: 33,371,896 (GRCm39)	Y303*	probably null	Het
Spopfm2	A	T	3: 94,082,841 (GRCm39)	C323*	probably null	Het
Thrb	G	A	14: 18,011,076 (GRCm38)	D151N	probably benign	Het
Tns1	A	G	1: 73,975,074 (GRCm39)	V1170A	probably benign	Het
Trbv19	A	T	6: 41,155,706 (GRCm39)	I26F	probably damaging	Het
Tstd2	T	C	4: 46,120,467 (GRCm39)	N311S	probably damaging	Het
Ttn	T	A	2: 76,715,746 (GRCm39)		probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn1r185	G	A	7: 26,310,716 (GRCm39)	A263V	probably benign	Het
Zfp316	T	C	5: 143,239,169 (GRCm39)	H950R	probably damaging	Het
Zfp51	A	G	17: 21,676,615 (GRCm39)	K29E	probably benign	Het
Zfp644	T	C	5: 106,766,081 (GRCm39)		probably benign	Het

Other mutations in Amy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Amy1	APN	3	113,349,781 (GRCm39)	missense	probably damaging	1.00
IGL00966:Amy1	APN	3	113,349,689 (GRCm39)	missense	probably benign	0.00
IGL01153:Amy1	APN	3	113,349,724 (GRCm39)	missense	possibly damaging	0.69
IGL02415:Amy1	APN	3	113,357,234 (GRCm39)	missense	probably benign	0.27
IGL02555:Amy1	APN	3	113,358,541 (GRCm39)	missense	probably benign	0.01
IGL02572:Amy1	APN	3	113,358,722 (GRCm39)	splice site	probably benign
IGL03215:Amy1	APN	3	113,349,649 (GRCm39)	missense	probably benign
R0196:Amy1	UTSW	3	113,363,070 (GRCm39)	missense	probably benign
R0230:Amy1	UTSW	3	113,352,079 (GRCm39)	missense	probably benign	0.02
R0586:Amy1	UTSW	3	113,356,418 (GRCm39)	unclassified	probably benign
R1789:Amy1	UTSW	3	113,351,814 (GRCm39)	missense	possibly damaging	0.56
R1823:Amy1	UTSW	3	113,356,376 (GRCm39)	missense	probably null
R1922:Amy1	UTSW	3	113,358,544 (GRCm39)	missense	probably damaging	0.97
R2080:Amy1	UTSW	3	113,351,743 (GRCm39)	missense	probably benign	0.01
R3147:Amy1	UTSW	3	113,363,697 (GRCm39)	start gained	probably benign
R3437:Amy1	UTSW	3	113,349,658 (GRCm39)	missense	probably damaging	1.00
R4977:Amy1	UTSW	3	113,363,026 (GRCm39)	splice site	probably null
R5304:Amy1	UTSW	3	113,352,013 (GRCm39)	missense	probably damaging	1.00
R5500:Amy1	UTSW	3	113,356,371 (GRCm39)	missense	probably damaging	1.00
R5503:Amy1	UTSW	3	113,349,709 (GRCm39)	missense	probably benign	0.26
R5706:Amy1	UTSW	3	113,349,769 (GRCm39)	missense	probably damaging	0.99
R5866:Amy1	UTSW	3	113,355,569 (GRCm39)	missense	possibly damaging	0.93
R5956:Amy1	UTSW	3	113,357,311 (GRCm39)	missense	probably benign	0.04
R6110:Amy1	UTSW	3	113,355,549 (GRCm39)	missense	probably damaging	1.00
R6259:Amy1	UTSW	3	113,363,059 (GRCm39)	missense	possibly damaging	0.73
R6278:Amy1	UTSW	3	113,355,339 (GRCm39)	missense	probably damaging	1.00
R6429:Amy1	UTSW	3	113,363,158 (GRCm39)	missense	probably damaging	1.00
R6893:Amy1	UTSW	3	113,357,281 (GRCm39)	missense	probably benign	0.00
R7136:Amy1	UTSW	3	113,357,248 (GRCm39)	missense	probably damaging	1.00
R7463:Amy1	UTSW	3	113,363,533 (GRCm39)	nonsense	probably null
R9193:Amy1	UTSW	3	113,356,278 (GRCm39)	missense	probably benign	0.22
Z1177:Amy1	UTSW	3	113,352,002 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTGTGAAACCATAAGGATGAGCC -3'
(R):5'- TCCTGAGATCATCTACATTGCAATC -3'

Sequencing Primer
(F):5'- TAAGGATGAGCCAACATAAAGCC -3'
(R):5'- TGCAATCTTACATGAAATGTGGATG -3'

Posted On

2016-04-27