Mutagenetix > Incidental Mutation

Incidental Mutation 'R6661:Amy2a1'

526836

Institutional Source

Beutler Lab

Gene Symbol

Amy2a1

Ensembl Gene

ENSMUSG00000070360

Gene Name

amylase 2a1

Synonyms

Amy2-1, mAmy2-6

MMRRC Submission

044781-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R6661 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

113323052-113326077 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113325363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 77 (Y77C)

Ref Sequence

ENSEMBL: ENSMUSP00000118962 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000132353]

AlphaFold

E9PV85

Predicted Effect

probably damaging
Transcript: ENSMUST00000132353
AA Change: Y77C

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

SMART Domains

Protein: ENSMUSP00000118962
Gene: ENSMUSG00000070360
AA Change: Y77C

Domain	Start	End	E-Value	Type
Pfam:Alpha-amylase	46	238	2.1e-16	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.8%

Validation Efficiency

93% (38/41)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd9	C	A	12: 110,944,202 (GRCm39)		probably benign	Het
Arhgap28	C	A	17: 68,152,746 (GRCm39)	W675L	probably damaging	Het
Arhgap44	A	G	11: 64,900,834 (GRCm39)	S595P	probably damaging	Het
Brd10	A	T	19: 29,700,864 (GRCm39)	H741Q	possibly damaging	Het
Cacna1d	C	A	14: 29,811,832 (GRCm39)	D1273Y	probably damaging	Het
Ccr4	T	C	9: 114,325,031 (GRCm39)		probably benign	Het
Celsr1	A	G	15: 85,803,135 (GRCm39)	V2468A	probably damaging	Het
Chd2	T	C	7: 73,140,230 (GRCm39)	E666G	possibly damaging	Het
Ctnnd1	C	A	2: 84,439,986 (GRCm39)	V775L	probably damaging	Het
Cux2	C	A	5: 122,007,360 (GRCm39)	R767L	probably benign	Het
Decr2	A	G	17: 26,302,561 (GRCm39)	L217S	possibly damaging	Het
Dennd4c	T	A	4: 86,717,626 (GRCm39)	M541K	possibly damaging	Het
Dnah7a	T	C	1: 53,662,609 (GRCm39)	R651G	probably benign	Het
Fbrsl1	A	T	5: 110,525,963 (GRCm39)	F80I	probably damaging	Het
Fmnl2	C	A	2: 52,998,297 (GRCm39)	P554Q	probably damaging	Het
Gapvd1	C	T	2: 34,618,450 (GRCm39)	D308N	probably damaging	Het
Gatb	A	G	3: 85,559,726 (GRCm39)		probably null	Het
Jcad	G	A	18: 4,675,256 (GRCm39)	G1006D	probably damaging	Het
Krt1c	A	G	15: 101,724,398 (GRCm39)	Y289H	probably damaging	Het
Lrrc52	A	G	1: 167,293,922 (GRCm39)	F121S	probably damaging	Het
Lrrc63	G	A	14: 75,362,633 (GRCm39)	T299I	unknown	Het
Magi1	T	C	6: 93,920,289 (GRCm39)	N109S	probably benign	Het
Mbd4	C	A	6: 115,826,116 (GRCm39)	E271*	probably null	Het
Meis2	T	A	2: 115,694,751 (GRCm39)	D457V	probably damaging	Het
Mroh8	A	G	2: 157,067,547 (GRCm39)	V604A	probably benign	Het
Nedd4	T	A	9: 72,593,377 (GRCm39)	V150E	probably damaging	Het
Nes	A	G	3: 87,884,243 (GRCm39)	E790G	probably damaging	Het
Or8h8	T	C	2: 86,753,492 (GRCm39)	N128S	probably benign	Het
Pik3c2a	T	C	7: 115,967,993 (GRCm39)	I834V	possibly damaging	Het
Plxnb1	T	C	9: 108,933,367 (GRCm39)	C666R	possibly damaging	Het
Prg2	T	C	2: 84,813,620 (GRCm39)		probably null	Het
Selenbp2	A	G	3: 94,609,821 (GRCm39)	D257G	probably damaging	Het
Slf1	T	C	13: 77,191,964 (GRCm39)	R957G	probably damaging	Het
Smim10l1	T	A	6: 133,082,513 (GRCm39)	M46K	possibly damaging	Het
Sptbn5	T	C	2: 119,902,856 (GRCm39)	Y50C	possibly damaging	Het
Tcea1	A	G	1: 4,928,652 (GRCm39)		probably benign	Het
Tex14	A	G	11: 87,385,842 (GRCm39)	E234G	probably damaging	Het
Tmbim4	T	C	10: 120,060,556 (GRCm39)	V181A	probably benign	Het
Trappc9	A	G	15: 72,461,993 (GRCm39)	S1091P	possibly damaging	Het
Txnrd3	T	A	6: 89,631,134 (GRCm39)	C143*	probably null	Het
Ushbp1	C	T	8: 71,843,305 (GRCm39)	C314Y	unknown	Het

Other mutations in Amy2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2062:Amy2a1	UTSW	3	113,324,217 (GRCm39)	missense	probably benign	0.08
R2064:Amy2a1	UTSW	3	113,324,217 (GRCm39)	missense	probably benign	0.08
R2065:Amy2a1	UTSW	3	113,324,217 (GRCm39)	missense	probably benign	0.08
R2066:Amy2a1	UTSW	3	113,324,217 (GRCm39)	missense	probably benign	0.08
R2067:Amy2a1	UTSW	3	113,324,217 (GRCm39)	missense	probably benign	0.08
R5504:Amy2a1	UTSW	3	113,325,318 (GRCm39)	missense	probably benign
R7216:Amy2a1	UTSW	3	113,324,090 (GRCm39)	missense	possibly damaging	0.85
R7894:Amy2a1	UTSW	3	113,324,190 (GRCm39)	missense	possibly damaging	0.69
R8355:Amy2a1	UTSW	3	113,324,045 (GRCm39)	missense	probably benign	0.01
R8455:Amy2a1	UTSW	3	113,324,045 (GRCm39)	missense	probably benign	0.01
R8672:Amy2a1	UTSW	3	113,323,146 (GRCm39)	missense	probably damaging	1.00
R8762:Amy2a1	UTSW	3	113,325,276 (GRCm39)	critical splice donor site	probably benign
R9229:Amy2a1	UTSW	3	113,325,955 (GRCm39)	start gained	probably benign
R9445:Amy2a1	UTSW	3	113,325,324 (GRCm39)	missense	possibly damaging	0.88
Z1177:Amy2a1	UTSW	3	113,324,181 (GRCm39)	missense	not run

Predicted Primers

PCR Primer
(F):5'- TCACCCTCAAACGGTATGTTAT -3'
(R):5'- AATGTCCTTCCATAATATCTGGTGA -3'

Sequencing Primer
(F):5'- GATCCATCTGCATATGTAGCAGGC -3'
(R):5'- ACACAACAGAAGTGAATGTTTATAGG -3'

Posted On

2018-07-23