Incidental Mutation 'R6267:Ampd3'
ID 507077
Institutional Source Beutler Lab
Gene Symbol Ampd3
Ensembl Gene ENSMUSG00000005686
Gene Name adenosine monophosphate deaminase 3
Synonyms
MMRRC Submission 044405-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6267 (G1)
Quality Score 216.009
Status Not validated
Chromosome 7
Chromosomal Location 110768206-110812405 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 110791180 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149655 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005829] [ENSMUST00000005829] [ENSMUST00000143786] [ENSMUST00000147587] [ENSMUST00000148292] [ENSMUST00000148292] [ENSMUST00000170374] [ENSMUST00000170374] [ENSMUST00000213373] [ENSMUST00000213373]
AlphaFold O08739
Predicted Effect probably null
Transcript: ENSMUST00000005829
SMART Domains Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 309 716 1.5e-139 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000005829
SMART Domains Protein: ENSMUSP00000005829
Gene: ENSMUSG00000005686

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 null
Transcript: ENSMUST00000148292
SMART Domains Protein: ENSMUSP00000122657
Gene: ENSMUSG00000005686

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

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000170374
SMART Domains Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686

DomainStartEndE-ValueType
low complexity region 99 111 N/A INTRINSIC
Pfam:A_deaminase 309 716 7.6e-129 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170374
SMART Domains Protein: ENSMUSP00000130495
Gene: ENSMUSG00000005686

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 null
Transcript: ENSMUST00000213373
Predicted Effect probably null
Transcript: ENSMUST00000213373
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.4%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700014D04Rik T C 13: 59,742,683 (GRCm38) D441G probably benign Het
4933427D14Rik T C 11: 72,195,754 (GRCm38) K277R probably damaging Het
Aatf T C 11: 84,473,100 (GRCm38) Y267C probably benign Het
Abi3bp A G 16: 56,594,497 (GRCm38) T341A probably damaging Het
Acer2 T C 4: 86,874,586 (GRCm38) F33S probably damaging Het
Actr1b A G 1: 36,701,163 (GRCm38) V299A possibly damaging Het
Atm A C 9: 53,444,000 (GRCm38) I2898R probably damaging Het
Bpifb6 G C 2: 153,906,892 (GRCm38) K269N possibly damaging Het
Cacna1c T C 6: 118,598,723 (GRCm38) E1927G possibly damaging Het
Cacna1c T A 6: 118,652,714 (GRCm38) T1249S probably benign Het
Cars2 TCCCC TCCC 8: 11,529,599 (GRCm38) probably null Het
Cbll1 A G 12: 31,487,508 (GRCm38) V415A probably benign Het
Cd300lf C T 11: 115,124,369 (GRCm38) V132I probably benign Het
Chd2 T C 7: 73,463,671 (GRCm38) E1187G probably damaging Het
Cntrl T C 2: 35,129,793 (GRCm38) L544P probably damaging Het
Cryga A C 1: 65,103,010 (GRCm38) S75A probably benign Het
Dcbld1 T A 10: 52,319,480 (GRCm38) Y261* probably null Het
Ddx11 G A 17: 66,150,729 (GRCm38) probably null Het
Dgke C T 11: 89,040,749 (GRCm38) V560I probably benign Het
Dst A C 1: 34,228,672 (GRCm38) D5065A probably damaging Het
Dusp16 C A 6: 134,720,493 (GRCm38) probably null Het
Eif4enif1 T A 11: 3,227,793 (GRCm38) V395E probably damaging Het
Enox1 A G 14: 77,577,764 (GRCm38) T121A probably damaging Het
Enpp4 G T 17: 44,102,480 (GRCm38) N54K probably benign Het
Erc2 A T 14: 28,080,155 (GRCm38) K764M probably damaging Het
Ercc6 G T 14: 32,526,403 (GRCm38) E304* probably null Het
Fam117a T A 11: 95,364,145 (GRCm38) C115S possibly damaging Het
Fcrl5 G A 3: 87,448,324 (GRCm38) G448E probably damaging Het
Galntl5 T C 5: 25,186,165 (GRCm38) S21P probably benign Het
Garnl3 T C 2: 33,104,880 (GRCm38) D39G probably benign Het
Gm14295 C T 2: 176,808,989 (GRCm38) Q91* probably null Het
Grb10 T A 11: 11,970,639 (GRCm38) probably benign Het
Grip1 C T 10: 120,075,464 (GRCm38) Q696* probably null Het
Herc2 T A 7: 56,153,166 (GRCm38) C2112* probably null Het
Herc2 T G 7: 56,204,718 (GRCm38) L3797R possibly damaging Het
Ighm T C 12: 113,421,567 (GRCm38) I258V unknown Het
Jarid2 T A 13: 44,903,063 (GRCm38) Y443N possibly damaging Het
Kif13b A G 14: 64,738,634 (GRCm38) Y466C probably damaging Het
Krtap4-6 T A 11: 99,665,419 (GRCm38) R161* probably null Het
Lingo4 G A 3: 94,403,390 (GRCm38) G545E probably benign Het
Lmo2 T G 2: 103,970,601 (GRCm38) V39G possibly damaging Het
Lor C A 3: 92,081,812 (GRCm38) G56* probably null Het
Lrfn1 A G 7: 28,459,744 (GRCm38) R363G probably benign Het
Lrp1b T C 2: 40,657,525 (GRCm38) D446G probably benign Het
Ltbp1 G T 17: 75,005,989 (GRCm38) G35V possibly damaging Het
Magel2 G A 7: 62,378,679 (GRCm38) V444M probably damaging Het
Mkx A T 18: 7,000,591 (GRCm38) probably null Het
Ms4a7 A T 19: 11,333,295 (GRCm38) I20N possibly damaging Het
Myo5b A G 18: 74,616,991 (GRCm38) Y173C probably damaging Het
Nek1 C T 8: 61,072,309 (GRCm38) Q594* probably null Het
Nipbl T C 15: 8,300,895 (GRCm38) M2349V possibly damaging Het
Nmnat2 A T 1: 153,076,971 (GRCm38) H102L probably damaging Het
Nup155 T A 15: 8,153,155 (GRCm38) C1201S probably damaging Het
Olfr1249 G A 2: 89,630,631 (GRCm38) T89I probably damaging Het
Olfr1373 C A 11: 52,144,596 (GRCm38) R311S probably benign Het
Olfr686 G A 7: 105,203,392 (GRCm38) T317I probably damaging Het
Osbpl1a A G 18: 12,819,503 (GRCm38) probably null Het
Pcnt A G 10: 76,385,798 (GRCm38) V1998A probably benign Het
Pitpnc1 T C 11: 107,226,266 (GRCm38) H193R probably damaging Het
Pitpnm1 T C 19: 4,110,522 (GRCm38) L781P probably damaging Het
Prdm14 A T 1: 13,118,936 (GRCm38) C395S probably damaging Het
Prmt8 A G 6: 127,711,804 (GRCm38) I201T probably damaging Het
Pter T C 2: 12,978,541 (GRCm38) V119A probably damaging Het
Rab11fip4 T C 11: 79,690,829 (GRCm38) probably null Het
Rgs9 T C 11: 109,268,987 (GRCm38) N173S probably benign Het
Rorb C A 19: 18,977,857 (GRCm38) V47L possibly damaging Het
Rtn4r A G 16: 18,151,182 (GRCm38) Y158C probably damaging Het
Sdr16c5 C T 4: 4,016,162 (GRCm38) G88E probably damaging Het
Sfxn1 C T 13: 54,093,880 (GRCm38) T208I probably benign Het
Sgo2b C T 8: 63,927,793 (GRCm38) M668I probably benign Het
Slc52a3 G T 2: 152,007,609 (GRCm38) probably null Het
Smco1 A T 16: 32,274,014 (GRCm38) M168L probably benign Het
Spata31d1d G A 13: 59,728,464 (GRCm38) T419I possibly damaging Het
Spink5 T C 18: 44,014,757 (GRCm38) S857P probably damaging Het
Stk35 T A 2: 129,810,888 (GRCm38) Y436* probably null Het
Tmem225 T A 9: 40,148,435 (GRCm38) I37N probably damaging Het
Unkl T C 17: 25,231,865 (GRCm38) *232R probably null Het
Usp16 A G 16: 87,483,191 (GRCm38) N813S probably benign Het
Vmn1r128 A T 7: 21,350,296 (GRCm38) *308C probably null Het
Vmn2r45 A G 7: 8,472,208 (GRCm38) V607A probably benign Het
Vmn2r63 A T 7: 42,928,635 (GRCm38) probably null Het
Wnk4 A T 11: 101,273,998 (GRCm38) N718Y probably damaging Het
Zfp503 G C 14: 21,985,800 (GRCm38) Y349* probably null Het
Zfp990 T A 4: 145,538,103 (GRCm38) F557Y possibly damaging Het
Other mutations in Ampd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00421:Ampd3 APN 7 110,803,147 (GRCm38) missense probably benign 0.01
IGL00576:Ampd3 APN 7 110,788,821 (GRCm38) splice site probably benign
IGL00805:Ampd3 APN 7 110,809,865 (GRCm38) missense possibly damaging 0.78
IGL01486:Ampd3 APN 7 110,809,916 (GRCm38) splice site probably benign
IGL01551:Ampd3 APN 7 110,804,976 (GRCm38) missense probably damaging 1.00
IGL02088:Ampd3 APN 7 110,793,686 (GRCm38) missense probably benign 0.00
IGL02123:Ampd3 APN 7 110,802,559 (GRCm38) missense possibly damaging 0.91
IGL02605:Ampd3 APN 7 110,795,758 (GRCm38) missense probably benign 0.00
IGL02990:Ampd3 APN 7 110,807,963 (GRCm38) splice site probably benign
carson UTSW 7 110,800,710 (GRCm38) missense probably damaging 1.00
commanche UTSW 7 110,807,871 (GRCm38) missense possibly damaging 0.95
guangdong UTSW 7 110,803,162 (GRCm38) missense probably damaging 1.00
macao UTSW 7 110,803,139 (GRCm38) missense probably damaging 1.00
penasco UTSW 7 110,803,226 (GRCm38) missense probably damaging 1.00
taos UTSW 7 110,804,935 (GRCm38) missense probably damaging 0.99
R0025:Ampd3 UTSW 7 110,793,669 (GRCm38) missense probably benign 0.04
R0025:Ampd3 UTSW 7 110,793,669 (GRCm38) missense probably benign 0.04
R0608:Ampd3 UTSW 7 110,795,791 (GRCm38) missense probably damaging 1.00
R0608:Ampd3 UTSW 7 110,795,790 (GRCm38) missense probably damaging 1.00
R0718:Ampd3 UTSW 7 110,777,808 (GRCm38) missense probably damaging 1.00
R0799:Ampd3 UTSW 7 110,800,697 (GRCm38) missense probably damaging 1.00
R1053:Ampd3 UTSW 7 110,788,680 (GRCm38) missense probably damaging 1.00
R1473:Ampd3 UTSW 7 110,804,935 (GRCm38) missense probably damaging 0.99
R1676:Ampd3 UTSW 7 110,795,733 (GRCm38) missense probably damaging 1.00
R1977:Ampd3 UTSW 7 110,803,162 (GRCm38) missense probably damaging 1.00
R2380:Ampd3 UTSW 7 110,800,710 (GRCm38) missense probably damaging 1.00
R2419:Ampd3 UTSW 7 110,768,369 (GRCm38) unclassified probably benign
R3438:Ampd3 UTSW 7 110,803,226 (GRCm38) missense probably damaging 1.00
R3907:Ampd3 UTSW 7 110,793,670 (GRCm38) missense possibly damaging 0.88
R5367:Ampd3 UTSW 7 110,807,871 (GRCm38) missense possibly damaging 0.95
R5625:Ampd3 UTSW 7 110,802,523 (GRCm38) missense probably damaging 0.97
R6066:Ampd3 UTSW 7 110,793,767 (GRCm38) missense probably benign 0.12
R6493:Ampd3 UTSW 7 110,795,811 (GRCm38) splice site probably null
R6852:Ampd3 UTSW 7 110,802,546 (GRCm38) missense probably benign 0.02
R7147:Ampd3 UTSW 7 110,804,852 (GRCm38) missense probably damaging 1.00
R7313:Ampd3 UTSW 7 110,806,054 (GRCm38) missense probably damaging 1.00
R7649:Ampd3 UTSW 7 110,777,842 (GRCm38) missense probably benign 0.01
R7843:Ampd3 UTSW 7 110,791,188 (GRCm38) missense probably benign 0.01
R7946:Ampd3 UTSW 7 110,777,940 (GRCm38) missense probably damaging 1.00
R8319:Ampd3 UTSW 7 110,795,775 (GRCm38) missense probably benign 0.01
R8377:Ampd3 UTSW 7 110,800,730 (GRCm38) missense probably damaging 1.00
R9202:Ampd3 UTSW 7 110,803,139 (GRCm38) missense probably damaging 1.00
R9498:Ampd3 UTSW 7 110,809,846 (GRCm38) missense probably damaging 1.00
R9623:Ampd3 UTSW 7 110,803,100 (GRCm38) missense probably damaging 1.00
R9720:Ampd3 UTSW 7 110,777,849 (GRCm38) missense probably benign
Z1088:Ampd3 UTSW 7 110,777,825 (GRCm38) missense probably damaging 1.00
Z1177:Ampd3 UTSW 7 110,788,780 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCAGCATCCTTGGGACCAAC -3'
(R):5'- CCAAGACTTCATACCTGGGAGAC -3'

Sequencing Primer
(F):5'- GACCACCTTCAGACTTTGAGATGTG -3'
(R):5'- GGAGACCCTCTTCCAAAGGC -3'
Posted On 2018-03-15