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: 0.123) question?

Stock #

R5503 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113349601-113371399 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113349709 bp (GRCm39)

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: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
Abca6	A	G	11: 110,109,083 (GRCm39)	S696P	probably damaging	Het
Abca9	G	A	11: 110,032,436 (GRCm39)	T727M	probably damaging	Het
Alpk2	T	C	18: 65,439,312 (GRCm39)	R1161G	probably benign	Het
Arap2	G	A	5: 62,787,529 (GRCm39)	A1409V	probably damaging	Het
B4galt6	C	A	18: 20,878,409 (GRCm39)		probably null	Het
Cacna1s	G	A	1: 136,014,480 (GRCm39)	G382D	probably damaging	Het
Camk2a	A	G	18: 61,111,072 (GRCm39)	D87G	probably damaging	Het
Cdh18	A	G	15: 23,436,620 (GRCm39)	Y492C	probably damaging	Het
Cert1	C	T	13: 96,679,747 (GRCm39)	R26C	possibly damaging	Het
Col18a1	C	T	10: 76,907,454 (GRCm39)	G861D	probably damaging	Het
Crybg1	C	A	10: 43,874,762 (GRCm39)	S782I	probably benign	Het
Csgalnact1	G	A	8: 68,914,125 (GRCm39)	L27F	probably damaging	Het
Dab1	T	A	4: 104,369,461 (GRCm39)	C3S	probably benign	Het
Dapk1	T	C	13: 60,873,126 (GRCm39)	F343L	probably benign	Het
Dgat1	A	T	15: 76,386,394 (GRCm39)		probably benign	Het
Dnah11	C	A	12: 117,844,186 (GRCm39)		probably null	Het
Dsg2	T	A	18: 20,713,708 (GRCm39)	Y226*	probably null	Het
Epg5	T	A	18: 77,994,422 (GRCm39)	M351K	possibly damaging	Het
F13b	A	G	1: 139,450,281 (GRCm39)	T648A	probably benign	Het
Fgf17	T	C	14: 70,874,408 (GRCm39)	Y127C	probably damaging	Het
Fkbp15	G	A	4: 62,246,124 (GRCm39)	P435S	probably benign	Het
Gfm1	G	A	3: 67,361,060 (GRCm39)		probably null	Het
Gigyf1	T	C	5: 137,521,729 (GRCm39)		probably benign	Het
Gm12830	A	T	4: 114,678,936 (GRCm39)	T6S	unknown	Het
Gm6465	A	T	5: 11,898,150 (GRCm39)	N88I	probably damaging	Het
Gpr18	C	T	14: 122,149,159 (GRCm39)	V289I	probably damaging	Het
Ipp	G	T	4: 116,395,135 (GRCm39)	E557*	probably null	Het
Klhl12	T	A	1: 134,413,653 (GRCm39)		probably null	Het
Klhl38	A	G	15: 58,185,745 (GRCm39)	V328A	possibly damaging	Het
Kndc1	A	G	7: 139,511,802 (GRCm39)	T1470A	probably damaging	Het
Kntc1	T	A	5: 123,957,939 (GRCm39)	D2173E	possibly damaging	Het
Lipi	T	C	16: 75,370,864 (GRCm39)	K118E	probably benign	Het
Marf1	A	C	16: 13,970,095 (GRCm39)	L208R	probably damaging	Het
Misp	G	A	10: 79,662,552 (GRCm39)	R323K	probably damaging	Het
Mlxip	T	A	5: 123,533,390 (GRCm39)	M133K	probably damaging	Het
Mon2	A	T	10: 122,868,550 (GRCm39)	M501K	possibly damaging	Het
Myh2	A	G	11: 67,064,275 (GRCm39)	I77V	probably benign	Het
Napa	C	A	7: 15,849,549 (GRCm39)	Q254K	probably benign	Het
Nckap5l	C	A	15: 99,323,503 (GRCm39)	G1000V	probably damaging	Het
Neo1	A	T	9: 58,892,933 (GRCm39)	S236R	possibly damaging	Het
Neurl4	T	A	11: 69,797,194 (GRCm39)	Y594N	probably damaging	Het
Nmral1	G	A	16: 4,533,493 (GRCm39)	P94L	probably benign	Het
Notch3	A	T	17: 32,366,029 (GRCm39)	I1024N	probably benign	Het
Nsd1	T	A	13: 55,393,752 (GRCm39)	I451K	probably damaging	Het
Nt5c3b	T	C	11: 100,323,883 (GRCm39)	D143G	probably benign	Het
Oplah	A	G	15: 76,189,646 (GRCm39)		probably null	Het
Or13a17	A	C	7: 140,271,309 (GRCm39)	M164L	probably benign	Het
Or2ak4	T	A	11: 58,649,154 (GRCm39)	V221E	probably damaging	Het
Or6b2b	C	A	1: 92,418,918 (GRCm39)	K186N	probably benign	Het
Or7d10	A	G	9: 19,831,675 (GRCm39)	T57A	probably benign	Het
Or8b48	T	C	9: 38,493,368 (GRCm39)	V265A	probably benign	Het
Or8g19	A	G	9: 39,055,780 (GRCm39)	N128S	probably benign	Het
Phb2	T	A	6: 124,689,985 (GRCm39)		probably benign	Het
Plcl2	A	G	17: 50,816,957 (GRCm39)	I108V	probably benign	Het
Plpp6	T	A	19: 28,942,146 (GRCm39)	M249K	probably damaging	Het
Pnpt1	G	A	11: 29,088,156 (GRCm39)	G189E	probably damaging	Het
Pramel17	A	T	4: 101,692,999 (GRCm39)	Y334N	probably benign	Het
Ptprn	C	T	1: 75,228,519 (GRCm39)	V853M	probably damaging	Het
Ptprq	T	C	10: 107,524,189 (GRCm39)		probably null	Het
Rai1	G	A	11: 60,077,279 (GRCm39)	V448I	probably benign	Het
Rbm20	T	A	19: 53,839,785 (GRCm39)	C925S	possibly damaging	Het
Rin3	C	A	12: 102,279,314 (GRCm39)	P41Q	probably benign	Het
Rpl31-ps21	T	C	5: 21,324,505 (GRCm39)		noncoding transcript	Het
Rpl39-ps	A	T	15: 102,543,561 (GRCm39)		noncoding transcript	Het
Rtn4ip1	T	A	10: 43,783,879 (GRCm39)	D133E	probably benign	Het
Ryr1	T	C	7: 28,768,453 (GRCm39)	K2839E	possibly damaging	Het
Septin5	T	C	16: 18,442,118 (GRCm39)	K268R	probably benign	Het
Serpinb6b	T	A	13: 33,161,642 (GRCm39)	D238E	possibly damaging	Het
Slc15a2	C	T	16: 36,582,747 (GRCm39)	V214M	probably damaging	Het
Smarca2	T	C	19: 26,601,336 (GRCm39)	M18T	probably damaging	Het
Smarca2	C	A	19: 26,659,446 (GRCm39)	T912K	possibly damaging	Het
Smdt1	A	T	15: 82,232,101 (GRCm39)	R46S	possibly damaging	Het
Spa17	A	C	9: 37,523,273 (GRCm39)	F5V	probably damaging	Het
Spag17	A	G	3: 99,934,560 (GRCm39)	E614G	possibly damaging	Het
Sstr4	CGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	2: 148,237,471 (GRCm39)		probably benign	Het
Tlr1	A	T	5: 65,083,635 (GRCm39)	V314D	probably damaging	Het
Trappc8	A	T	18: 20,969,957 (GRCm39)	L1011Q	probably benign	Het
Tsga10	A	G	1: 37,800,028 (GRCm39)	*691Q	probably null	Het
Vav1	A	T	17: 57,610,079 (GRCm39)	K420*	probably null	Het
Vmn1r174	C	G	7: 23,453,562 (GRCm39)	T76R	probably benign	Het
Vmn2r116	A	G	17: 23,605,778 (GRCm39)	E230G	probably benign	Het
Vps13b	A	G	15: 35,452,312 (GRCm39)	T637A	probably damaging	Het
Zbtb7a	A	G	10: 80,980,631 (GRCm39)	E275G	probably damaging	Het
Zfp280b	A	G	10: 75,875,296 (GRCm39)		probably null	Het
Zfp763	A	G	17: 33,238,507 (GRCm39)	Y213H	possibly damaging	Het
Zfp78	T	A	7: 6,381,528 (GRCm39)	W161R	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
R4961:Amy1	UTSW	3	113,355,498 (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
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'- ACCTTTTCAAGTTTATTGCCTATACA -3'
(R):5'- GGTCATTGGCCATTAAATCATAATTT -3'

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

Posted On

2016-10-05