Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02605:Ampd3'

300220

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ampd3

Ensembl Gene

ENSMUSG00000005686

Gene Name

adenosine monophosphate deaminase 3

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02605

Quality Score

Status

Chromosome

Chromosomal Location

110768206-110812405 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110795758 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 305 (F305L)

Ref Sequence

ENSEMBL: ENSMUSP00000149655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000213373]

Predicted Effect

probably benign
Transcript: ENSMUST00000005829
AA Change: F296L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: F296L

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

noncoding transcript
Transcript: ENSMUST00000106686

Predicted Effect

probably benign
Transcript: ENSMUST00000148292

SMART Domains

Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686

Domain	Start	End	E-Value	Type
low complexity region	99	111	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148367

Predicted Effect

probably benign
Transcript: ENSMUST00000170374
AA Change: F296L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: F296L

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

noncoding transcript
Transcript: ENSMUST00000176487

Predicted Effect

probably benign
Transcript: ENSMUST00000213373
AA Change: F305L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb2	A	T	2: 103,717,257	Y992F	probably benign	Het
Adgrg6	T	A	10: 14,467,232	N324Y	probably damaging	Het
Ankrd35	A	G	3: 96,681,072		probably null	Het
Api5	A	G	2: 94,429,719	I64T	possibly damaging	Het
Arhgap21	A	G	2: 20,855,588	I1165T	probably damaging	Het
Bdp1	T	C	13: 100,078,115		probably null	Het
Capn3	T	A	2: 120,496,037	I570N	probably damaging	Het
Catsperg2	T	C	7: 29,719,565	H232R	possibly damaging	Het
Clcn7	T	C	17: 25,146,818	L156P	possibly damaging	Het
Cpa3	C	A	3: 20,222,212	V286F	probably benign	Het
Csrnp3	G	A	2: 66,022,809	C527Y	probably damaging	Het
Dock5	A	T	14: 67,828,438	V372E	probably benign	Het
Elmo1	T	C	13: 20,605,202	L696P	probably damaging	Het
Fam91a1	T	C	15: 58,431,196		probably benign	Het
Gm12695	T	A	4: 96,762,751	D155V	probably null	Het
Hspa4l	A	G	3: 40,781,623	I559V	probably benign	Het
Kdm1a	G	T	4: 136,551,037		probably benign	Het
Lrrc8d	A	T	5: 105,826,817		noncoding transcript	Het
Minpp1	A	T	19: 32,498,415	Y316F	possibly damaging	Het
Neto2	T	C	8: 85,663,435		probably benign	Het
Nrxn2	T	A	19: 6,450,580	D277E	probably benign	Het
Ola1	A	G	2: 73,142,300		probably benign	Het
Olfr1298	A	G	2: 111,645,505	V164A	probably benign	Het
Olfr550	T	C	7: 102,579,395	I300T	probably damaging	Het
Olfr893	T	A	9: 38,209,236	M61K	probably damaging	Het
Pam	A	G	1: 97,840,339	V722A	possibly damaging	Het
Pfdn6	T	C	17: 33,939,103	Y90C	probably benign	Het
Pkhd1	T	A	1: 20,550,902	H844L	possibly damaging	Het
Plk5	G	A	10: 80,363,062	V422M	probably damaging	Het
Psmc1	G	T	12: 100,119,127	R249L	probably damaging	Het
Ptpro	C	T	6: 137,380,318	P269L	probably benign	Het
Ralgapa1	G	T	12: 55,712,665	H1480Q	possibly damaging	Het
Rars	G	A	11: 35,824,526		probably benign	Het
Rbm48	G	A	5: 3,590,600	R260C	possibly damaging	Het
Smarcc1	C	T	9: 110,222,000	H963Y	possibly damaging	Het
Spef2	T	C	15: 9,725,152	E230G	probably damaging	Het
Spg11	A	G	2: 122,092,260	S903P	probably benign	Het
Tas2r122	T	C	6: 132,711,609	Y107C	probably damaging	Het
Tpm3	C	A	3: 90,088,446	N204K	probably benign	Het
Wdr36	T	C	18: 32,851,991	I450T	possibly damaging	Het

Other mutations in Ampd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Ampd3	APN	7	110803147	missense	probably benign	0.01
IGL00576:Ampd3	APN	7	110788821	splice site	probably benign
IGL00805:Ampd3	APN	7	110809865	missense	possibly damaging	0.78
IGL01486:Ampd3	APN	7	110809916	splice site	probably benign
IGL01551:Ampd3	APN	7	110804976	missense	probably damaging	1.00
IGL02088:Ampd3	APN	7	110793686	missense	probably benign	0.00
IGL02123:Ampd3	APN	7	110802559	missense	possibly damaging	0.91
IGL02990:Ampd3	APN	7	110807963	splice site	probably benign
carson	UTSW	7	110800710	missense	probably damaging	1.00
commanche	UTSW	7	110807871	missense	possibly damaging	0.95
guangdong	UTSW	7	110803162	missense	probably damaging	1.00
penasco	UTSW	7	110803226	missense	probably damaging	1.00
taos	UTSW	7	110804935	missense	probably damaging	0.99
R0025:Ampd3	UTSW	7	110793669	missense	probably benign	0.04
R0025:Ampd3	UTSW	7	110793669	missense	probably benign	0.04
R0608:Ampd3	UTSW	7	110795790	missense	probably damaging	1.00
R0608:Ampd3	UTSW	7	110795791	missense	probably damaging	1.00
R0718:Ampd3	UTSW	7	110777808	missense	probably damaging	1.00
R0799:Ampd3	UTSW	7	110800697	missense	probably damaging	1.00
R1053:Ampd3	UTSW	7	110788680	missense	probably damaging	1.00
R1473:Ampd3	UTSW	7	110804935	missense	probably damaging	0.99
R1676:Ampd3	UTSW	7	110795733	missense	probably damaging	1.00
R1977:Ampd3	UTSW	7	110803162	missense	probably damaging	1.00
R2380:Ampd3	UTSW	7	110800710	missense	probably damaging	1.00
R2419:Ampd3	UTSW	7	110768369	unclassified	probably benign
R3438:Ampd3	UTSW	7	110803226	missense	probably damaging	1.00
R3907:Ampd3	UTSW	7	110793670	missense	possibly damaging	0.88
R5367:Ampd3	UTSW	7	110807871	missense	possibly damaging	0.95
R5625:Ampd3	UTSW	7	110802523	missense	probably damaging	0.97
R6066:Ampd3	UTSW	7	110793767	missense	probably benign	0.12
R6267:Ampd3	UTSW	7	110791180	splice site	probably null
R6493:Ampd3	UTSW	7	110795811	splice site	probably null
R6852:Ampd3	UTSW	7	110802546	missense	probably benign	0.02
R7147:Ampd3	UTSW	7	110804852	missense	probably damaging	1.00
R7313:Ampd3	UTSW	7	110806054	missense	probably damaging	1.00
R7649:Ampd3	UTSW	7	110777842	missense	probably benign	0.01
R7843:Ampd3	UTSW	7	110791188	missense	probably benign	0.01
R7946:Ampd3	UTSW	7	110777940	missense	probably damaging	1.00
R8319:Ampd3	UTSW	7	110795775	missense	probably benign	0.01
R8377:Ampd3	UTSW	7	110800730	missense	probably damaging	1.00
Z1088:Ampd3	UTSW	7	110777825	missense	probably damaging	1.00
Z1177:Ampd3	UTSW	7	110788780	missense	probably damaging	1.00

Posted On

2015-04-16