Incidental Mutation 'R0608:Ampd3'
ID 54407
Institutional Source Beutler Lab
Gene Symbol Ampd3
Ensembl Gene ENSMUSG00000005686
Gene Name adenosine monophosphate deaminase 3
Synonyms
MMRRC Submission 038797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0608 (G1)
Quality Score 180
Status Not validated
Chromosome 7
Chromosomal Location 110367413-110411612 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 110394997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 315 (D315E)
Ref Sequence ENSEMBL: ENSMUSP00000149655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000213373]
AlphaFold O08739
Predicted Effect probably damaging
Transcript: ENSMUST00000005829
AA Change: D306E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686
AA Change: D306E

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 damaging
Transcript: ENSMUST00000170374
AA Change: D306E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686
AA Change: D306E

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 damaging
Transcript: ENSMUST00000213373
AA Change: D315E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.7%
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atxn2l A G 7: 126,100,588 (GRCm39) probably null Het
Bckdhb T G 9: 83,835,789 (GRCm39) F98V probably damaging Het
Calhm1 C T 19: 47,132,280 (GRCm39) V112I probably benign Het
Ccdc28a G A 10: 18,100,699 (GRCm39) R90C probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cep128 T G 12: 90,966,309 (GRCm39) probably benign Het
Cep72 A T 13: 74,186,423 (GRCm39) H249Q probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Col11a1 T C 3: 114,012,364 (GRCm39) probably benign Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Cysltr1 A G X: 105,622,261 (GRCm39) V75A possibly damaging Het
Dnaaf11 T A 15: 66,252,323 (GRCm39) M448L probably benign Het
Dnah17 G T 11: 117,981,575 (GRCm39) Y1716* probably null Het
Dnm1 T C 2: 32,225,836 (GRCm39) E383G possibly damaging Het
Dst C A 1: 34,329,437 (GRCm39) probably null Het
Edil3 T C 13: 89,332,968 (GRCm39) S375P probably damaging Het
Eme1 A G 11: 94,540,908 (GRCm39) C277R probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Fbxl6 C T 15: 76,420,953 (GRCm39) V341M probably benign Het
Fgf14 A G 14: 124,914,015 (GRCm39) S39P probably damaging Het
Fmo4 C T 1: 162,631,220 (GRCm39) R249H possibly damaging Het
Gle1 T A 2: 29,830,240 (GRCm39) D265E probably benign Het
Gml2 T C 15: 74,693,235 (GRCm39) probably null Het
Golgb1 G T 16: 36,736,692 (GRCm39) E1980* probably null Het
Hap1 A G 11: 100,240,131 (GRCm39) L555P probably damaging Het
Heca T C 10: 17,791,039 (GRCm39) D339G possibly damaging Het
Hepacam2 T C 6: 3,483,479 (GRCm39) T101A possibly damaging Het
Ift88 T C 14: 57,733,678 (GRCm39) V707A probably benign Het
Kdm3a C T 6: 71,597,030 (GRCm39) G252D probably benign Het
Klhl11 A G 11: 100,363,068 (GRCm39) Y163H probably damaging Het
Kntc1 A T 5: 123,924,137 (GRCm39) N1008Y probably damaging Het
Lrp2 G T 2: 69,316,587 (GRCm39) N2131K probably benign Het
Magi3 C G 3: 103,924,873 (GRCm39) G1092A probably damaging Het
Mef2a G T 7: 66,884,896 (GRCm39) S406* probably null Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mrps26 G T 2: 130,405,778 (GRCm39) R27L possibly damaging Het
Myof T C 19: 37,904,952 (GRCm39) D1624G probably damaging Het
Naif1 T C 2: 32,344,908 (GRCm39) M204T probably benign Het
Ndufb8 T C 19: 44,538,784 (GRCm39) E179G possibly damaging Het
Neb A T 2: 52,216,769 (GRCm39) D135E probably benign Het
Nlrp6 C T 7: 140,503,399 (GRCm39) Q502* probably null Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Obi1 T C 14: 104,716,963 (GRCm39) Y470C probably damaging Het
Or4d2 G A 11: 87,784,022 (GRCm39) H243Y probably damaging Het
Parp4 T A 14: 56,839,861 (GRCm39) V523E probably damaging Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Pnliprp1 T A 19: 58,726,628 (GRCm39) Y328* probably null Het
Pnpla8 C T 12: 44,330,246 (GRCm39) P48L probably benign Het
Rab44 T A 17: 29,366,317 (GRCm39) probably null Het
Ranbp2 T C 10: 58,329,720 (GRCm39) I3031T probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Serpinh1 A G 7: 98,998,601 (GRCm39) C10R unknown Het
Sh2d4a A G 8: 68,799,346 (GRCm39) Y405C possibly damaging Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spire1 T C 18: 67,661,945 (GRCm39) R163G probably damaging Het
Stxbp2 T A 8: 3,682,559 (GRCm39) D49E probably damaging Het
Susd2 C T 10: 75,474,069 (GRCm39) A509T probably benign Het
Sycp2 A G 2: 178,024,197 (GRCm39) F396L probably damaging Het
Syne2 T C 12: 76,010,587 (GRCm39) L2499P probably damaging Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Sytl4 A T X: 132,862,936 (GRCm39) D16E probably benign Het
Tab2 C T 10: 7,795,883 (GRCm39) V126I probably damaging Het
Tecpr1 T C 5: 144,148,317 (GRCm39) T363A probably damaging Het
Terb2 A G 2: 122,016,816 (GRCm39) D16G probably benign Het
Tm2d2 A G 8: 25,510,552 (GRCm39) E137G probably benign Het
Trim30d T A 7: 104,121,692 (GRCm39) H201L probably damaging Het
Tspan3 A G 9: 56,054,669 (GRCm39) probably null Het
Ttn A T 2: 76,617,667 (GRCm39) L16268Q probably damaging Het
Ttn A T 2: 76,626,529 (GRCm39) probably null Het
Ubap2 T A 4: 41,218,319 (GRCm39) T263S probably benign Het
Vmn2r100 C A 17: 19,742,382 (GRCm39) P252Q possibly damaging Het
Zeb2 A T 2: 44,886,138 (GRCm39) M973K possibly damaging Het
Zfp229 A G 17: 21,965,615 (GRCm39) E615G probably damaging Het
Zfp655 T A 5: 145,180,867 (GRCm39) S242T possibly damaging Het
Zfp788 T A 7: 41,297,705 (GRCm39) F62I possibly damaging Het
Zmynd8 A G 2: 165,629,078 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- ATGCTGTCAGAACCTGACCCTTCC -3'
(R):5'- AGTATCCGAGACAACCCGAGTCAAG -3'

Sequencing Primer
(F):5'- TCCAGCCCCGGTCACTAC -3'
(R):5'- GAGTCAAGGACACAGTCTGCC -3'
Posted On 2013-07-11