Mutagenetix > Incidental Mutation

Incidental Mutation 'R8455:Amy2a1'

654967

Institutional Source

Beutler Lab

Gene Symbol

Amy2a1

Ensembl Gene

ENSMUSG00000070360

Gene Name

amylase 2a1

Synonyms

Amy2-1, mAmy2-6

MMRRC Submission

067832-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R8455 (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 A at 113324045 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 165 (D165V)

Ref Sequence

ENSEMBL: ENSMUSP00000118962 (fasta)

Gene Model

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

AlphaFold

E9PV85

Predicted Effect

probably benign
Transcript: ENSMUST00000132353
AA Change: D165V

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000118962
Gene: ENSMUSG00000070360
AA Change: D165V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	G	9: 104,204,174 (GRCm39)	V40A	possibly damaging	Het
Adgra1	T	A	7: 139,455,567 (GRCm39)	C398*	probably null	Het
Atf6b	A	G	17: 34,867,197 (GRCm39)	D63G	probably benign	Het
BC024139	T	C	15: 76,004,007 (GRCm39)	D753G	probably benign	Het
Dnah3	T	G	7: 119,551,431 (GRCm39)	T2963P	probably damaging	Het
Fanci	G	T	7: 79,085,029 (GRCm39)	L818F	probably damaging	Het
Gm4559	C	A	7: 141,827,694 (GRCm39)	C136F	unknown	Het
Gm45844	G	A	7: 7,281,221 (GRCm39)		probably benign	Het
Kmt2c	T	A	5: 25,559,499 (GRCm39)		probably null	Het
Lpo	G	A	11: 87,705,114 (GRCm39)	L407F	probably damaging	Het
Mus81	T	C	19: 5,534,220 (GRCm39)	Y366C	probably damaging	Het
Nipbl	T	C	15: 8,364,528 (GRCm39)	D1292G	probably damaging	Het
Nox3	A	G	17: 3,736,198 (GRCm39)	S143P	probably damaging	Het
Npepps	A	T	11: 97,132,800 (GRCm39)	I309N	probably damaging	Het
Nufip2	C	T	11: 77,583,259 (GRCm39)	T391I	probably damaging	Het
Or5g25	T	A	2: 85,478,485 (GRCm39)	Y60F	probably damaging	Het
Or7e177	A	G	9: 20,211,715 (GRCm39)	Y74C	probably damaging	Het
Piezo2	A	T	18: 63,224,069 (GRCm39)	V935E	probably damaging	Het
Rusc2	A	G	4: 43,422,846 (GRCm39)	I994M	probably benign	Het
Sgcz	T	C	8: 38,190,239 (GRCm39)	I96V	probably benign	Het
Tmem108	A	G	9: 103,377,069 (GRCm39)	S127P	possibly damaging	Het
Tmem178b	G	A	6: 40,231,869 (GRCm39)	V168I	unknown	Het
Tut1	T	C	19: 8,936,626 (GRCm39)	V150A	probably benign	Het
Txnl4a	T	A	18: 80,250,539 (GRCm39)	L45Q	probably damaging	Het
V1ra8	C	T	6: 90,180,447 (GRCm39)	R217W	probably damaging	Het
Vmn2r95	A	G	17: 18,660,352 (GRCm39)	T255A	probably benign	Het
Zfp605	A	G	5: 110,259,848 (GRCm39)		probably benign	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
R6661:Amy2a1	UTSW	3	113,325,363 (GRCm39)	missense	probably damaging	1.00
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
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'- TGGAGACTGTAACTCAGACTTTG -3'
(R):5'- TGCTGTGAGATTGCAATGTAAC -3'

Sequencing Primer
(F):5'- AACGCGCTTTTTCAGACAC -3'
(R):5'- GCTGTGAGATTGCAATGTAACTACAG -3'

Posted On

2020-10-20