Incidental Mutation 'R6819:Adal'
ID 537504
Institutional Source Beutler Lab
Gene Symbol Adal
Ensembl Gene ENSMUSG00000027259
Gene Name adenosine deaminase-like
Synonyms 4930578F03Rik
MMRRC Submission 044931-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6819 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120970909-120987161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120978794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 138 (I138N)
Ref Sequence ENSEMBL: ENSMUSP00000113052 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028702] [ENSMUST00000066155] [ENSMUST00000110662] [ENSMUST00000110665] [ENSMUST00000119031]
AlphaFold Q80SY6
Predicted Effect probably damaging
Transcript: ENSMUST00000028702
AA Change: I71N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028702
Gene: ENSMUSG00000027259
AA Change: I71N

DomainStartEndE-ValueType
Pfam:A_deaminase 1 276 1.8e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000066155
AA Change: I138N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000067133
Gene: ENSMUSG00000027259
AA Change: I138N

DomainStartEndE-ValueType
Pfam:A_deaminase 16 343 1.6e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110662
SMART Domains Protein: ENSMUSP00000106290
Gene: ENSMUSG00000027259

DomainStartEndE-ValueType
Pfam:A_deaminase 2 200 1.1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110665
SMART Domains Protein: ENSMUSP00000106293
Gene: ENSMUSG00000027259

DomainStartEndE-ValueType
Pfam:A_deaminase 2 236 4.3e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119031
AA Change: I138N

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113052
Gene: ENSMUSG00000027259
AA Change: I138N

DomainStartEndE-ValueType
Pfam:A_deaminase 16 343 3e-44 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 C A 17: 24,506,767 (GRCm39) V1196L probably benign Het
Arfgap1 T C 2: 180,613,478 (GRCm39) probably null Het
Boc T C 16: 44,313,188 (GRCm39) T559A probably damaging Het
Brip1 A G 11: 86,001,267 (GRCm39) V723A possibly damaging Het
Cnot10 A C 9: 114,444,123 (GRCm39) I424S probably benign Het
Cntnap4 T G 8: 113,529,858 (GRCm39) S689A probably benign Het
Cuzd1 A T 7: 130,911,460 (GRCm39) N506K possibly damaging Het
Dctn3 T A 4: 41,715,259 (GRCm39) T158S possibly damaging Het
Dnai2 A G 11: 114,635,917 (GRCm39) I301V probably benign Het
Ebpl G T 14: 61,578,695 (GRCm39) P180Q probably damaging Het
Epha5 T A 5: 84,254,649 (GRCm39) Y489F probably damaging Het
Frmd8 T C 19: 5,915,208 (GRCm39) N232S probably benign Het
Fuca1 T C 4: 135,660,267 (GRCm39) Y262H probably damaging Het
Gfy T C 7: 44,826,975 (GRCm39) I374V possibly damaging Het
Glg1 G A 8: 111,914,513 (GRCm39) R424C probably damaging Het
Ica1 G T 6: 8,742,288 (GRCm39) T115K probably damaging Het
Igf2bp2 T C 16: 21,879,586 (GRCm39) E511G probably damaging Het
Jag2 C A 12: 112,874,161 (GRCm39) R998L probably damaging Het
Kcnv1 G T 15: 44,972,513 (GRCm39) L457I probably damaging Het
Mroh2a C A 1: 88,170,142 (GRCm39) A685D possibly damaging Het
Ms4a8a T A 19: 11,053,743 (GRCm39) H121L probably damaging Het
Muc5b T A 7: 141,412,600 (GRCm39) S1849T unknown Het
Myo10 T C 15: 25,781,496 (GRCm39) V997A possibly damaging Het
Or10g3b A G 14: 52,587,156 (GRCm39) Y116H probably damaging Het
Or10g9b T A 9: 39,917,844 (GRCm39) M134L probably benign Het
Or8g54 T A 9: 39,706,905 (GRCm39) I78N probably benign Het
Pate2 T A 9: 35,581,801 (GRCm39) C32S probably damaging Het
Per1 G T 11: 68,992,284 (GRCm39) Q179H probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Rbp2 T A 9: 98,391,614 (GRCm39) V130E probably damaging Het
Rictor T A 15: 6,825,517 (GRCm39) probably null Het
Rundc3a A T 11: 102,289,287 (GRCm39) R153* probably null Het
Scrn3 C T 2: 73,149,826 (GRCm39) A174V probably damaging Het
Serpina10 T A 12: 103,594,619 (GRCm39) Q200L probably benign Het
Slc25a51 A T 4: 45,399,365 (GRCm39) I275N possibly damaging Het
Spast C T 17: 74,674,281 (GRCm39) H238Y possibly damaging Het
Speg A T 1: 75,368,456 (GRCm39) I775F possibly damaging Het
Ssh1 G T 5: 114,084,851 (GRCm39) T463K probably benign Het
Tm2d3 A G 7: 65,347,526 (GRCm39) E151G probably damaging Het
Uggt2 A G 14: 119,263,847 (GRCm39) I1061T probably damaging Het
Unc79 T G 12: 103,108,267 (GRCm39) S1941A probably benign Het
Vcan T C 13: 89,853,244 (GRCm39) D572G probably benign Het
Vmn2r16 T G 5: 109,488,412 (GRCm39) S428R probably benign Het
Zeb1 A G 18: 5,591,917 (GRCm39) D3G probably damaging Het
Zfp352 A G 4: 90,112,936 (GRCm39) T359A probably benign Het
Zfp987 C A 4: 146,062,315 (GRCm39) D582E probably benign Het
Zg16 G A 7: 126,649,692 (GRCm39) P90S possibly damaging Het
Other mutations in Adal
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00815:Adal APN 2 120,981,699 (GRCm39) splice site probably benign
IGL01917:Adal APN 2 120,973,035 (GRCm39) missense possibly damaging 0.88
IGL02487:Adal APN 2 120,985,877 (GRCm39) missense probably benign 0.12
R0004:Adal UTSW 2 120,982,966 (GRCm39) missense probably damaging 1.00
R0234:Adal UTSW 2 120,978,798 (GRCm39) missense probably benign 0.01
R0234:Adal UTSW 2 120,978,798 (GRCm39) missense probably benign 0.01
R1376:Adal UTSW 2 120,983,011 (GRCm39) missense probably damaging 1.00
R1376:Adal UTSW 2 120,983,011 (GRCm39) missense probably damaging 1.00
R4989:Adal UTSW 2 120,986,030 (GRCm39) utr 3 prime probably benign
R6532:Adal UTSW 2 120,976,604 (GRCm39) splice site probably null
R6606:Adal UTSW 2 120,980,769 (GRCm39) missense probably damaging 1.00
R6750:Adal UTSW 2 120,973,130 (GRCm39) missense probably damaging 1.00
R7035:Adal UTSW 2 120,985,942 (GRCm39) missense probably benign 0.00
R8210:Adal UTSW 2 120,985,236 (GRCm39) missense possibly damaging 0.91
R9373:Adal UTSW 2 120,980,703 (GRCm39) missense probably benign 0.21
R9446:Adal UTSW 2 120,976,530 (GRCm39) missense probably null 0.99
Predicted Primers PCR Primer
(F):5'- GGTCATGCTCATTCCTCTCGAG -3'
(R):5'- TACTAGAATTTGACTGCCAGATGAC -3'

Sequencing Primer
(F):5'- ATTCCTCTCGAGCCAGGC -3'
(R):5'- GACTGCCAGATGACTAAATTCAG -3'
Posted On 2018-10-18