Incidental Mutation 'IGL01444:Adad1'
ID84348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adad1
Ensembl Gene ENSMUSG00000027719
Gene Nameadenosine deaminase domain containing 1 (testis specific)
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.218) question?
Stock #IGL01444
Quality Score
Status
Chromosome3
Chromosomal Location37063527-37121930 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 37092034 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 517 (N517I)
Ref Sequence ENSEMBL: ENSMUSP00000115260 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029274] [ENSMUST00000144629]
Predicted Effect probably damaging
Transcript: ENSMUST00000029274
AA Change: N446I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
AA Change: N446I

DomainStartEndE-ValueType
DSRM 79 145 4.04e-15 SMART
low complexity region 154 176 N/A INTRINSIC
ADEAMc 186 547 2.51e-165 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000144629
AA Change: N517I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
AA Change: N517I

DomainStartEndE-ValueType
Blast:DSRM 51 108 5e-20 BLAST
DSRM 139 205 4.04e-15 SMART
low complexity region 214 236 N/A INTRINSIC
ADEAMc 246 618 4.77e-180 SMART
Predicted Effect unknown
Transcript: ENSMUST00000147773
AA Change: N81I
SMART Domains Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719
AA Change: N81I

DomainStartEndE-ValueType
Pfam:A_deamin 1 176 1.3e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148157
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a mutated allele have reduced sperm counts and motility, and increased sperm malformation resulting in background dependent sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T G 11: 23,620,225 probably benign Het
Adam25 G A 8: 40,754,921 R408H probably benign Het
Ang C A 14: 51,101,667 Y88* probably null Het
Ankrd42 T C 7: 92,610,585 T327A probably damaging Het
Birc6 A G 17: 74,631,687 D2696G probably damaging Het
Chd3 G A 11: 69,348,742 T1717M probably benign Het
Csmd1 T A 8: 16,200,055 M970L probably benign Het
Dhx32 T C 7: 133,748,977 I121M possibly damaging Het
Dnah11 G A 12: 118,020,232 S2506F possibly damaging Het
Dscam T A 16: 96,673,709 I1218F possibly damaging Het
Duox1 T C 2: 122,340,090 L1197P probably damaging Het
Eps8l2 T C 7: 141,361,375 Het
Exoc3 T C 13: 74,206,935 K49R probably damaging Het
Exoc8 T A 8: 124,895,841 T596S possibly damaging Het
F13a1 C T 13: 36,918,577 G391R probably null Het
Fam35a C A 14: 34,237,557 V823F probably damaging Het
Fat3 A T 9: 15,998,848 S1953T probably damaging Het
Gls2 C A 10: 128,201,347 N252K probably damaging Het
Gm5346 A T 8: 43,626,433 D251E probably benign Het
Haus2 G A 2: 120,615,942 R115K probably benign Het
Ift122 A G 6: 115,884,379 K262E probably benign Het
Islr2 C T 9: 58,198,378 C533Y probably damaging Het
Lrp2 A T 2: 69,443,716 F3997I possibly damaging Het
Nt5c1a C T 4: 123,216,169 R354W probably damaging Het
Olfr776 T A 10: 129,261,335 C125S probably damaging Het
Pcolce A T 5: 137,607,476 S200R probably damaging Het
Plec A G 15: 76,179,297 V2213A possibly damaging Het
Prmt3 T A 7: 49,780,372 D74E probably benign Het
Ptk7 A G 17: 46,565,387 F1046S probably damaging Het
Ranbp2 T C 10: 58,475,300 Y887H possibly damaging Het
Sez6l2 G A 7: 126,961,883 E447K possibly damaging Het
Snrnp70 C T 7: 45,387,236 probably null Het
Timm10 T A 2: 84,829,864 V49E probably damaging Het
Tox2 T C 2: 163,225,466 probably benign Het
Usp20 T A 2: 30,998,789 M1K probably null Het
Usp32 A C 11: 85,059,164 L223V probably damaging Het
Zeb1 T C 18: 5,767,138 S550P probably benign Het
Zeb1 G T 18: 5,767,906 A806S probably damaging Het
Other mutations in Adad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01903:Adad1 APN 3 37085082 unclassified probably null
IGL02501:Adad1 APN 3 37083340 missense probably damaging 0.99
IGL02703:Adad1 APN 3 37064241 missense probably damaging 1.00
IGL03354:Adad1 APN 3 37106173 missense probably damaging 1.00
R0042:Adad1 UTSW 3 37083173 unclassified probably benign
R0233:Adad1 UTSW 3 37084948 missense possibly damaging 0.91
R0233:Adad1 UTSW 3 37084948 missense possibly damaging 0.91
R0928:Adad1 UTSW 3 37076740 critical splice donor site probably null
R1704:Adad1 UTSW 3 37092015 missense probably benign
R4081:Adad1 UTSW 3 37064363 splice site probably null
R4596:Adad1 UTSW 3 37065192 missense probably damaging 1.00
R4613:Adad1 UTSW 3 37092033 missense probably damaging 1.00
R4810:Adad1 UTSW 3 37092034 missense probably damaging 1.00
R4855:Adad1 UTSW 3 37085111 missense probably damaging 1.00
R4884:Adad1 UTSW 3 37076664 missense possibly damaging 0.94
R5025:Adad1 UTSW 3 37065210 missense probably damaging 0.97
R5286:Adad1 UTSW 3 37065250 missense possibly damaging 0.75
R5356:Adad1 UTSW 3 37065256 missense probably damaging 1.00
R5948:Adad1 UTSW 3 37083355 critical splice donor site probably null
R6091:Adad1 UTSW 3 37084969 missense possibly damaging 0.93
Posted On2013-11-11