Incidental Mutation 'IGL02605:Ampd3'
ID 300220
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 # IGL02605
Quality Score
Status
Chromosome 7
Chromosomal Location 110367413-110411612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110394965 bp (GRCm39)
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]
AlphaFold O08739
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,547,602 (GRCm39) Y992F probably benign Het
Adgrg6 T A 10: 14,342,976 (GRCm39) N324Y probably damaging Het
Ankrd35 A G 3: 96,588,388 (GRCm39) probably null Het
Api5 A G 2: 94,260,064 (GRCm39) I64T possibly damaging Het
Arhgap21 A G 2: 20,860,399 (GRCm39) I1165T probably damaging Het
Bdp1 T C 13: 100,214,623 (GRCm39) probably null Het
Capn3 T A 2: 120,326,518 (GRCm39) I570N probably damaging Het
Catsperg2 T C 7: 29,418,990 (GRCm39) H232R possibly damaging Het
Clcn7 T C 17: 25,365,792 (GRCm39) L156P possibly damaging Het
Cpa3 C A 3: 20,276,376 (GRCm39) V286F probably benign Het
Csrnp3 G A 2: 65,853,153 (GRCm39) C527Y probably damaging Het
Dock5 A T 14: 68,065,887 (GRCm39) V372E probably benign Het
Elmo1 T C 13: 20,789,372 (GRCm39) L696P probably damaging Het
Fam91a1 T C 15: 58,303,045 (GRCm39) probably benign Het
Gm12695 T A 4: 96,650,988 (GRCm39) D155V probably null Het
Hspa4l A G 3: 40,736,055 (GRCm39) I559V probably benign Het
Kdm1a G T 4: 136,278,348 (GRCm39) probably benign Het
Lrrc8d A T 5: 105,974,683 (GRCm39) noncoding transcript Het
Minpp1 A T 19: 32,475,815 (GRCm39) Y316F possibly damaging Het
Neto2 T C 8: 86,390,064 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,500,610 (GRCm39) D277E probably benign Het
Ola1 A G 2: 72,972,644 (GRCm39) probably benign Het
Or4k48 A G 2: 111,475,850 (GRCm39) V164A probably benign Het
Or51r1 T C 7: 102,228,602 (GRCm39) I300T probably damaging Het
Or8c15 T A 9: 38,120,532 (GRCm39) M61K probably damaging Het
Pam A G 1: 97,768,064 (GRCm39) V722A possibly damaging Het
Pfdn6 T C 17: 34,158,077 (GRCm39) Y90C probably benign Het
Pkhd1 T A 1: 20,621,126 (GRCm39) H844L possibly damaging Het
Plk5 G A 10: 80,198,896 (GRCm39) V422M probably damaging Het
Psmc1 G T 12: 100,085,386 (GRCm39) R249L probably damaging Het
Ptpro C T 6: 137,357,316 (GRCm39) P269L probably benign Het
Ralgapa1 G T 12: 55,759,450 (GRCm39) H1480Q possibly damaging Het
Rars1 G A 11: 35,715,353 (GRCm39) probably benign Het
Rbm48 G A 5: 3,640,600 (GRCm39) R260C possibly damaging Het
Smarcc1 C T 9: 110,051,068 (GRCm39) H963Y possibly damaging Het
Spef2 T C 15: 9,725,238 (GRCm39) E230G probably damaging Het
Spg11 A G 2: 121,922,741 (GRCm39) S903P probably benign Het
Tas2r122 T C 6: 132,688,572 (GRCm39) Y107C probably damaging Het
Tpm3 C A 3: 89,995,753 (GRCm39) N204K probably benign Het
Wdr36 T C 18: 32,985,044 (GRCm39) I450T possibly damaging Het
Other mutations in Ampd3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL00805:Ampd3 APN 7 110,409,072 (GRCm39) missense possibly damaging 0.78
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
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 2015-04-16