Mutagenetix > Incidental Mutation

Incidental Mutation 'R5503:Amy1'

430717

Institutional Source

Beutler Lab

Gene Symbol

Amy1

Ensembl Gene

ENSMUSG00000074264

Gene Name

amylase 1, salivary

Synonyms

Amy-1

MMRRC Submission

043064-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113555710-113606699 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113556060 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 487 (D487G)

Ref Sequence

ENSEMBL: ENSMUSP00000102150 (fasta)

Gene Model

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

AlphaFold

P00687

Predicted Effect

probably benign
Transcript: ENSMUST00000067980
AA Change: D487G

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070368
Gene: ENSMUSG00000074264
AA Change: D487G

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: D487G

PolyPhen 2 Score 0.256 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102150
Gene: ENSMUSG00000074264
AA Change: D487G

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

0.1978

Coding Region Coverage

1x: 98.3%
3x: 97.4%
10x: 95.4%
20x: 91.5%

Validation Efficiency

96% (103/107)

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: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,164,547 (GRCm38)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546 (GRCm38)	E685*	probably null	Het
Abca6	A	G	11: 110,218,257 (GRCm38)	S696P	probably damaging	Het
Abca9	G	A	11: 110,141,610 (GRCm38)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,306,241 (GRCm38)	R1161G	probably benign	Het
Arap2	G	A	5: 62,630,186 (GRCm38)	A1409V	probably damaging	Het
B020004J07Rik	A	T	4: 101,835,802 (GRCm38)	Y334N	probably benign	Het
B4galt6	C	A	18: 20,745,352 (GRCm38)		probably null	Het
Cacna1s	G	A	1: 136,086,742 (GRCm38)	G382D	probably damaging	Het
Camk2a	A	G	18: 60,978,000 (GRCm38)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,534 (GRCm38)	Y492C	probably damaging	Het
Col18a1	C	T	10: 77,071,620 (GRCm38)	G861D	probably damaging	Het
Col4a3bp	C	T	13: 96,543,239 (GRCm38)	R26C	possibly damaging	Het
Crybg1	C	A	10: 43,998,766 (GRCm38)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,461,473 (GRCm38)	L27F	probably damaging	Het
Dab1	T	A	4: 104,512,264 (GRCm38)	C3S	probably benign	Het
Dapk1	T	C	13: 60,725,312 (GRCm38)	F343L	probably benign	Het
Dgat1	A	T	15: 76,502,194 (GRCm38)		probably benign	Het
Dnah11	C	A	12: 117,880,451 (GRCm38)		probably null	Het
Dsg2	T	A	18: 20,580,651 (GRCm38)	Y226*	probably null	Het
Epg5	T	A	18: 77,951,207 (GRCm38)	M351K	possibly damaging	Het
F13b	A	G	1: 139,522,543 (GRCm38)	T648A	probably benign	Het
Fgf17	T	C	14: 70,636,968 (GRCm38)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,327,887 (GRCm38)	P435S	probably benign	Het
Gfm1	G	A	3: 67,453,727 (GRCm38)		probably null	Het
Gigyf1	T	C	5: 137,523,467 (GRCm38)		probably benign	Het
Gm12830	A	T	4: 114,821,739 (GRCm38)	T6S	unknown	Het
Gm6465	A	T	5: 11,848,183 (GRCm38)	N88I	probably damaging	Het
Gpr18	C	T	14: 121,911,747 (GRCm38)	V289I	probably damaging	Het
Ipp	G	T	4: 116,537,938 (GRCm38)	E557*	probably null	Het
Klhl12	T	A	1: 134,485,915 (GRCm38)		probably null	Het
Klhl38	A	G	15: 58,322,349 (GRCm38)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,931,889 (GRCm38)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,819,876 (GRCm38)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,573,976 (GRCm38)	K118E	probably benign	Het
Marf1	A	C	16: 14,152,231 (GRCm38)	L208R	probably damaging	Het
Misp	G	A	10: 79,826,718 (GRCm38)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,395,327 (GRCm38)	M133K	probably damaging	Het
Mon2	A	T	10: 123,032,645 (GRCm38)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,173,449 (GRCm38)	I77V	probably benign	Het
Napa	C	A	7: 16,115,624 (GRCm38)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,425,622 (GRCm38)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,985,650 (GRCm38)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,906,368 (GRCm38)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,715,629 (GRCm38)	P94L	probably benign	Het
Notch3	A	T	17: 32,147,055 (GRCm38)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,245,939 (GRCm38)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,433,057 (GRCm38)	D143G	probably benign	Het
Olfr1415	C	A	1: 92,491,196 (GRCm38)	K186N	probably benign	Het
Olfr27	A	G	9: 39,144,484 (GRCm38)	N128S	probably benign	Het
Olfr316	T	A	11: 58,758,328 (GRCm38)	V221E	probably damaging	Het
Olfr45	A	C	7: 140,691,396 (GRCm38)	M164L	probably benign	Het
Olfr77	A	G	9: 19,920,379 (GRCm38)	T57A	probably benign	Het
Olfr912	T	C	9: 38,582,072 (GRCm38)	V265A	probably benign	Het
Oplah	A	G	15: 76,305,446 (GRCm38)		probably null	Het
Phb2	T	A	6: 124,713,022 (GRCm38)		probably benign	Het
Plcl2	A	G	17: 50,509,929 (GRCm38)	I108V	probably benign	Het
Plpp6	T	A	19: 28,964,746 (GRCm38)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,138,156 (GRCm38)	G189E	probably damaging	Het
Ptprn	C	T	1: 75,251,875 (GRCm38)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,688,328 (GRCm38)		probably null	Het
Rai1	G	A	11: 60,186,453 (GRCm38)	V448I	probably benign	Het
Rbm20	T	A	19: 53,851,354 (GRCm38)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,313,055 (GRCm38)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,119,507 (GRCm38)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,635,126 (GRCm38)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,907,883 (GRCm38)	D133E	probably benign	Het
Ryr1	T	C	7: 29,069,028 (GRCm38)	K2839E	possibly damaging	Het
Sept5	T	C	16: 18,623,368 (GRCm38)	K268R	probably benign	Het
Serpinb6b	T	A	13: 32,977,659 (GRCm38)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,762,385 (GRCm38)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,623,936 (GRCm38)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,682,046 (GRCm38)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,347,900 (GRCm38)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,611,977 (GRCm38)	F5V	probably damaging	Het
Spag17	A	G	3: 100,027,244 (GRCm38)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,395,551 (GRCm38)		probably benign	Het
Tlr1	A	T	5: 64,926,292 (GRCm38)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,836,900 (GRCm38)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,760,947 (GRCm38)	*691Q	probably null	Het
Vav1	A	T	17: 57,303,079 (GRCm38)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,754,137 (GRCm38)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,386,804 (GRCm38)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,166 (GRCm38)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 81,144,797 (GRCm38)	E275G	probably damaging	Het
Zfp280b	A	G	10: 76,039,462 (GRCm38)		probably null	Het
Zfp763	A	G	17: 33,019,533 (GRCm38)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,378,529 (GRCm38)	W161R	probably benign	Het

Other mutations in Amy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Amy1	APN	3	113,556,132 (GRCm38)	missense	probably damaging	1.00
IGL00966:Amy1	APN	3	113,556,040 (GRCm38)	missense	probably benign	0.00
IGL01153:Amy1	APN	3	113,556,075 (GRCm38)	missense	possibly damaging	0.69
IGL02415:Amy1	APN	3	113,563,585 (GRCm38)	missense	probably benign	0.27
IGL02555:Amy1	APN	3	113,564,892 (GRCm38)	missense	probably benign	0.01
IGL02572:Amy1	APN	3	113,565,073 (GRCm38)	splice site	probably benign
IGL03215:Amy1	APN	3	113,556,000 (GRCm38)	missense	probably benign
R0196:Amy1	UTSW	3	113,569,421 (GRCm38)	missense	probably benign
R0230:Amy1	UTSW	3	113,558,430 (GRCm38)	missense	probably benign	0.02
R0586:Amy1	UTSW	3	113,562,769 (GRCm38)	unclassified	probably benign
R1789:Amy1	UTSW	3	113,558,165 (GRCm38)	missense	possibly damaging	0.56
R1823:Amy1	UTSW	3	113,562,727 (GRCm38)	missense	probably null
R1922:Amy1	UTSW	3	113,564,895 (GRCm38)	missense	probably damaging	0.97
R2080:Amy1	UTSW	3	113,558,094 (GRCm38)	missense	probably benign	0.01
R3147:Amy1	UTSW	3	113,570,048 (GRCm38)	start gained	probably benign
R3437:Amy1	UTSW	3	113,556,009 (GRCm38)	missense	probably damaging	1.00
R4961:Amy1	UTSW	3	113,561,849 (GRCm38)	missense	probably damaging	1.00
R4977:Amy1	UTSW	3	113,569,377 (GRCm38)	splice site	probably null
R5304:Amy1	UTSW	3	113,558,364 (GRCm38)	missense	probably damaging	1.00
R5500:Amy1	UTSW	3	113,562,722 (GRCm38)	missense	probably damaging	1.00
R5706:Amy1	UTSW	3	113,556,120 (GRCm38)	missense	probably damaging	0.99
R5866:Amy1	UTSW	3	113,561,920 (GRCm38)	missense	possibly damaging	0.93
R5956:Amy1	UTSW	3	113,563,662 (GRCm38)	missense	probably benign	0.04
R6110:Amy1	UTSW	3	113,561,900 (GRCm38)	missense	probably damaging	1.00
R6259:Amy1	UTSW	3	113,569,410 (GRCm38)	missense	possibly damaging	0.73
R6278:Amy1	UTSW	3	113,561,690 (GRCm38)	missense	probably damaging	1.00
R6429:Amy1	UTSW	3	113,569,509 (GRCm38)	missense	probably damaging	1.00
R6893:Amy1	UTSW	3	113,563,632 (GRCm38)	missense	probably benign	0.00
R7136:Amy1	UTSW	3	113,563,599 (GRCm38)	missense	probably damaging	1.00
R7463:Amy1	UTSW	3	113,569,884 (GRCm38)	nonsense	probably null
R9193:Amy1	UTSW	3	113,562,629 (GRCm38)	missense	probably benign	0.22
Z1177:Amy1	UTSW	3	113,558,353 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTTTCAAGTTTATTGCCTATACA -3'
(R):5'- GGTCATTGGCCATTAAATCATAATTT -3'

Sequencing Primer
(F):5'- CAGGAAATCCAAATTATTGATGC -3'
(R):5'- GGGCTTTGTCAGAAACTT -3'

Posted On

2016-10-05