Incidental Mutation 'IGL02088:Ampd3'
ID279305
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ampd3
Ensembl Gene ENSMUSG00000005686
Gene Nameadenosine monophosphate deaminase 3
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02088
Quality Score
Status
Chromosome7
Chromosomal Location110768206-110812405 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 110793686 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 220 (D220E)
Ref Sequence ENSEMBL: ENSMUSP00000149655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000143786] [ENSMUST00000147587] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000213373]
Predicted Effect probably benign
Transcript: ENSMUST00000005829
AA Change: D211E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: D211E

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: ENSMUST00000143786
SMART Domains Protein: ENSMUSP00000120983
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 107 119 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000147587
SMART Domains Protein: ENSMUSP00000121238
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148292
SMART Domains Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000170374
AA Change: D211E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: D211E

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 309 716 7.6e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176487
Predicted Effect probably benign
Transcript: ENSMUST00000213373
AA Change: D220E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr4 T C 9: 104,098,881 E289G probably damaging Het
Aldh1l1 A T 6: 90,580,590 probably benign Het
Ank3 T C 10: 69,999,373 V136A probably damaging Het
Atg14 T C 14: 47,542,859 K486R probably benign Het
Axin1 A G 17: 26,188,695 I637V probably benign Het
Axin2 T A 11: 108,923,616 F110Y probably damaging Het
Cdh12 A T 15: 21,480,339 K214* probably null Het
Cfap44 A C 16: 44,451,628 E1248A possibly damaging Het
Cryba4 A G 5: 112,251,009 probably benign Het
Cyp2c68 A G 19: 39,703,521 probably benign Het
Dnah5 G T 15: 28,459,118 probably null Het
Dok3 A T 13: 55,524,370 V165E probably damaging Het
Etl4 A T 2: 20,806,548 R1147S probably damaging Het
Fam212a A G 9: 107,984,457 F220S probably damaging Het
Fbxl6 G T 15: 76,535,906 C502* probably null Het
Gp2 A T 7: 119,454,469 Y90N probably damaging Het
H1fnt G T 15: 98,257,178 T30K probably damaging Het
Itfg2 A G 6: 128,411,606 V306A probably benign Het
Lrig2 T C 3: 104,467,108 Y219C probably damaging Het
Mccc1 A T 3: 35,974,202 I485N probably damaging Het
Mettl25 A G 10: 105,823,250 F391L probably damaging Het
Muc19 C T 15: 91,891,168 noncoding transcript Het
Muc2 T C 7: 141,751,504 C182R probably damaging Het
Nlrp4g T C 9: 124,350,453 noncoding transcript Het
Nms A G 1: 38,939,277 probably benign Het
Nr3c1 T C 18: 39,424,391 N503S probably damaging Het
Olfr1495 T C 19: 13,768,666 F108S probably damaging Het
Olfr186 A G 16: 59,027,052 L285P probably damaging Het
Olfr828 C T 9: 18,815,923 V124I probably benign Het
Pcdhb5 G A 18: 37,321,959 S464N probably benign Het
Pcgf6 T C 19: 47,050,804 T6A unknown Het
Rdx A G 9: 52,060,883 probably benign Het
Shmt1 T C 11: 60,789,653 T403A probably damaging Het
Slc35d1 A G 4: 103,211,325 F148L probably benign Het
Tk1 A G 11: 117,824,665 probably benign Het
Tnks T A 8: 34,839,994 I1134F possibly damaging Het
Ttn A G 2: 76,726,691 V29990A probably damaging Het
Zcchc11 A G 4: 108,512,218 probably benign Het
Other mutations in Ampd3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02123:Ampd3 APN 7 110802559 missense possibly damaging 0.91
IGL02605:Ampd3 APN 7 110795758 missense probably benign 0.00
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 On2015-04-16