Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00805:Ampd3'

8828

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00805

Quality Score

Status

Chromosome

Chromosomal Location

110367413-110411612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110409072 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 704 (I704V)

Ref Sequence

ENSEMBL: ENSMUSP00000149655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000170374] [ENSMUST00000177236] [ENSMUST00000213373]

AlphaFold

O08739

Predicted Effect

probably benign
Transcript: ENSMUST00000005829
AA Change: I695V

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: I695V

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	1.5e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170374
AA Change: I695V

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: I695V

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC
Pfam:A_deaminase	309	716	7.6e-129	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176210

Predicted Effect

probably benign
Transcript: ENSMUST00000177236

SMART Domains

Protein: ENSMUSP00000134781
Gene: ENSMUSG00000030788

Domain	Start	End	E-Value	Type
RING	155	191	3.39e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000213373
AA Change: I704V

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the adenosine and AMP deaminases family. The encoded protein is an AMP deaminase involved in nucleotide and energy metabolism in erythrocytes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased mean corpuscular volume, abnormal erythrocyte physiology including increased erythrocyte ATP levels and osmotic fragility after fasting, and increased lung inflammation after hind-limb ischemia andreperfusion. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402F06Rik	A	T	2: 35,270,422 (GRCm39)	V93E	probably damaging	Het
Apcdd1	T	A	18: 63,066,936 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,772,521 (GRCm39)	Y3737C	probably benign	Het
Ercc4	G	T	16: 12,939,868 (GRCm39)	V43L	possibly damaging	Het
Jam2	T	C	16: 84,612,054 (GRCm39)		probably benign	Het
Mrpl3	T	A	9: 104,941,305 (GRCm39)	V204E	probably damaging	Het
Ptpn13	T	A	5: 103,702,595 (GRCm39)	M1187K	probably benign	Het
Sis	C	A	3: 72,841,532 (GRCm39)	R761I	probably benign	Het
Sos1	A	G	17: 80,705,953 (GRCm39)	V1206A	possibly damaging	Het
Stxbp3	A	T	3: 108,723,667 (GRCm39)	D189E	probably benign	Het
T	T	A	17: 8,655,997 (GRCm39)	D86E	probably benign	Het
Tek	A	T	4: 94,686,956 (GRCm39)	N158I	probably damaging	Het

Other mutations in Ampd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Ampd3	APN	7	110,402,354 (GRCm39)	missense	probably benign	0.01
IGL00576:Ampd3	APN	7	110,388,028 (GRCm39)	splice site	probably benign
IGL01486:Ampd3	APN	7	110,409,123 (GRCm39)	splice site	probably benign
IGL01551:Ampd3	APN	7	110,404,183 (GRCm39)	missense	probably damaging	1.00
IGL02088:Ampd3	APN	7	110,392,893 (GRCm39)	missense	probably benign	0.00
IGL02123:Ampd3	APN	7	110,401,766 (GRCm39)	missense	possibly damaging	0.91
IGL02605:Ampd3	APN	7	110,394,965 (GRCm39)	missense	probably benign	0.00
IGL02990:Ampd3	APN	7	110,407,170 (GRCm39)	splice site	probably benign
carson	UTSW	7	110,399,917 (GRCm39)	missense	probably damaging	1.00
commanche	UTSW	7	110,407,078 (GRCm39)	missense	possibly damaging	0.95
guangdong	UTSW	7	110,402,369 (GRCm39)	missense	probably damaging	1.00
macao	UTSW	7	110,402,346 (GRCm39)	missense	probably damaging	1.00
penasco	UTSW	7	110,402,433 (GRCm39)	missense	probably damaging	1.00
taos	UTSW	7	110,404,142 (GRCm39)	missense	probably damaging	0.99
R0025:Ampd3	UTSW	7	110,392,876 (GRCm39)	missense	probably benign	0.04
R0025:Ampd3	UTSW	7	110,392,876 (GRCm39)	missense	probably benign	0.04
R0608:Ampd3	UTSW	7	110,394,998 (GRCm39)	missense	probably damaging	1.00
R0608:Ampd3	UTSW	7	110,394,997 (GRCm39)	missense	probably damaging	1.00
R0718:Ampd3	UTSW	7	110,377,015 (GRCm39)	missense	probably damaging	1.00
R0799:Ampd3	UTSW	7	110,399,904 (GRCm39)	missense	probably damaging	1.00
R1053:Ampd3	UTSW	7	110,387,887 (GRCm39)	missense	probably damaging	1.00
R1473:Ampd3	UTSW	7	110,404,142 (GRCm39)	missense	probably damaging	0.99
R1676:Ampd3	UTSW	7	110,394,940 (GRCm39)	missense	probably damaging	1.00
R1977:Ampd3	UTSW	7	110,402,369 (GRCm39)	missense	probably damaging	1.00
R2380:Ampd3	UTSW	7	110,399,917 (GRCm39)	missense	probably damaging	1.00
R2419:Ampd3	UTSW	7	110,367,576 (GRCm39)	unclassified	probably benign
R3438:Ampd3	UTSW	7	110,402,433 (GRCm39)	missense	probably damaging	1.00
R3907:Ampd3	UTSW	7	110,392,877 (GRCm39)	missense	possibly damaging	0.88
R5367:Ampd3	UTSW	7	110,407,078 (GRCm39)	missense	possibly damaging	0.95
R5625:Ampd3	UTSW	7	110,401,730 (GRCm39)	missense	probably damaging	0.97
R6066:Ampd3	UTSW	7	110,392,974 (GRCm39)	missense	probably benign	0.12
R6267:Ampd3	UTSW	7	110,390,387 (GRCm39)	splice site	probably null
R6493:Ampd3	UTSW	7	110,395,018 (GRCm39)	splice site	probably null
R6852:Ampd3	UTSW	7	110,401,753 (GRCm39)	missense	probably benign	0.02
R7147:Ampd3	UTSW	7	110,404,059 (GRCm39)	missense	probably damaging	1.00
R7313:Ampd3	UTSW	7	110,405,261 (GRCm39)	missense	probably damaging	1.00
R7649:Ampd3	UTSW	7	110,377,049 (GRCm39)	missense	probably benign	0.01
R7843:Ampd3	UTSW	7	110,390,395 (GRCm39)	missense	probably benign	0.01
R7946:Ampd3	UTSW	7	110,377,147 (GRCm39)	missense	probably damaging	1.00
R8319:Ampd3	UTSW	7	110,394,982 (GRCm39)	missense	probably benign	0.01
R8377:Ampd3	UTSW	7	110,399,937 (GRCm39)	missense	probably damaging	1.00
R9202:Ampd3	UTSW	7	110,402,346 (GRCm39)	missense	probably damaging	1.00
R9498:Ampd3	UTSW	7	110,409,053 (GRCm39)	missense	probably damaging	1.00
R9623:Ampd3	UTSW	7	110,402,307 (GRCm39)	missense	probably damaging	1.00
R9720:Ampd3	UTSW	7	110,377,056 (GRCm39)	missense	probably benign
Z1088:Ampd3	UTSW	7	110,377,032 (GRCm39)	missense	probably damaging	1.00
Z1177:Ampd3	UTSW	7	110,387,987 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06