Incidental Mutation 'IGL02501:Adad1'
ID 296051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adad1
Ensembl Gene ENSMUSG00000027719
Gene Name adenosine deaminase domain containing 1
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.293) question?
Stock # IGL02501
Quality Score
Status
Chromosome 3
Chromosomal Location 37117805-37165661 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37137489 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 307 (I307F)
Ref Sequence ENSEMBL: ENSMUSP00000029274 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029274] [ENSMUST00000144629]
AlphaFold Q5SUE7
Predicted Effect probably damaging
Transcript: ENSMUST00000029274
AA Change: I307F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029274
Gene: ENSMUSG00000027719
AA Change: I307F

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 noncoding transcript
Transcript: ENSMUST00000030555
Predicted Effect probably damaging
Transcript: ENSMUST00000144629
AA Change: I378F

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000115260
Gene: ENSMUSG00000027719
AA Change: I378F

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 probably benign
Transcript: ENSMUST00000147773
SMART Domains Protein: ENSMUSP00000121015
Gene: ENSMUSG00000027719

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 G A 3: 89,247,769 (GRCm39) A789V possibly damaging Het
Bspry A G 4: 62,414,672 (GRCm39) T422A probably benign Het
Btnl6 T A 17: 34,734,648 (GRCm39) D38V possibly damaging Het
Cd59b G A 2: 103,909,273 (GRCm39) C18Y probably damaging Het
Clstn1 T G 4: 149,716,299 (GRCm39) I255R probably damaging Het
Dpp10 A G 1: 123,613,999 (GRCm39) L99P possibly damaging Het
Efr3b C T 12: 4,033,391 (GRCm39) V139I probably benign Het
Emc1 A T 4: 139,098,295 (GRCm39) T759S probably benign Het
Fndc1 C T 17: 7,984,230 (GRCm39) G1232E unknown Het
Gjb3 C T 4: 127,220,157 (GRCm39) G125D probably damaging Het
Helb A G 10: 119,938,693 (GRCm39) S594P possibly damaging Het
Hycc2 C A 1: 58,579,350 (GRCm39) R229L probably damaging Het
Ildr1 T C 16: 36,542,712 (GRCm39) S371P probably damaging Het
Kif1b T A 4: 149,299,433 (GRCm39) R946W probably damaging Het
Lrp12 T C 15: 39,741,300 (GRCm39) T472A probably damaging Het
Lyst A G 13: 13,886,230 (GRCm39) D3031G probably benign Het
Med12l A T 3: 59,169,397 (GRCm39) T1596S possibly damaging Het
Myom1 A C 17: 71,379,076 (GRCm39) probably null Het
Nhlrc2 T A 19: 56,559,086 (GRCm39) Y190* probably null Het
Nol4 A T 18: 22,956,398 (GRCm39) N115K probably damaging Het
Nrg1 T A 8: 32,308,291 (GRCm39) probably null Het
Or7g26 T A 9: 19,229,999 (GRCm39) H56Q probably damaging Het
Oxld1 A C 11: 120,347,714 (GRCm39) L161R probably damaging Het
Phex A G X: 155,969,271 (GRCm39) S568P probably damaging Het
Pkd1 T G 17: 24,788,673 (GRCm39) S810R probably benign Het
Plin2 G T 4: 86,582,723 (GRCm39) C84* probably null Het
Ppfia3 A T 7: 45,004,362 (GRCm39) probably benign Het
Ptpn14 A G 1: 189,582,587 (GRCm39) N478S probably benign Het
Pygl A G 12: 70,237,908 (GRCm39) M801T probably benign Het
Recql5 A G 11: 115,785,917 (GRCm39) Y619H probably benign Het
Scn3a C A 2: 65,356,899 (GRCm39) D182Y possibly damaging Het
Serpinb6e T C 13: 34,016,785 (GRCm39) E316G possibly damaging Het
Shroom4 A G X: 6,495,998 (GRCm39) E386G possibly damaging Het
Slc4a2 A G 5: 24,634,432 (GRCm39) S24G probably benign Het
Slc4a4 A G 5: 89,277,508 (GRCm39) I282V probably benign Het
Slc8b1 C T 5: 120,658,918 (GRCm39) R148C probably damaging Het
Stag2 A G X: 41,360,202 (GRCm39) probably benign Het
Styx T A 14: 45,609,922 (GRCm39) H195Q probably benign Het
Sufu A G 19: 46,439,349 (GRCm39) I190V probably benign Het
Svep1 A G 4: 58,145,341 (GRCm39) probably benign Het
Tbc1d31 T C 15: 57,801,344 (GRCm39) I293T probably benign Het
Timp4 T A 6: 115,223,444 (GRCm39) I160F probably damaging Het
Tmem87a A T 2: 120,234,534 (GRCm39) V3E probably damaging Het
Utp4 T A 8: 107,632,873 (GRCm39) H285Q probably benign Het
Vrk1 T G 12: 106,028,912 (GRCm39) S305A probably benign Het
Zfp329 G T 7: 12,545,106 (GRCm39) H139Q possibly damaging Het
Other mutations in Adad1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Adad1 APN 3 37,146,183 (GRCm39) missense probably damaging 1.00
IGL01903:Adad1 APN 3 37,139,231 (GRCm39) splice site probably null
IGL02703:Adad1 APN 3 37,118,390 (GRCm39) missense probably damaging 1.00
IGL03354:Adad1 APN 3 37,160,322 (GRCm39) missense probably damaging 1.00
R0042:Adad1 UTSW 3 37,137,322 (GRCm39) unclassified probably benign
R0233:Adad1 UTSW 3 37,139,097 (GRCm39) missense possibly damaging 0.91
R0233:Adad1 UTSW 3 37,139,097 (GRCm39) missense possibly damaging 0.91
R0928:Adad1 UTSW 3 37,130,889 (GRCm39) critical splice donor site probably null
R1704:Adad1 UTSW 3 37,146,164 (GRCm39) missense probably benign
R4081:Adad1 UTSW 3 37,118,512 (GRCm39) splice site probably null
R4596:Adad1 UTSW 3 37,119,341 (GRCm39) missense probably damaging 1.00
R4613:Adad1 UTSW 3 37,146,182 (GRCm39) missense probably damaging 1.00
R4810:Adad1 UTSW 3 37,146,183 (GRCm39) missense probably damaging 1.00
R4855:Adad1 UTSW 3 37,139,260 (GRCm39) missense probably damaging 1.00
R4884:Adad1 UTSW 3 37,130,813 (GRCm39) missense possibly damaging 0.94
R5025:Adad1 UTSW 3 37,119,359 (GRCm39) missense probably damaging 0.97
R5286:Adad1 UTSW 3 37,119,399 (GRCm39) missense possibly damaging 0.75
R5356:Adad1 UTSW 3 37,119,405 (GRCm39) missense probably damaging 1.00
R5948:Adad1 UTSW 3 37,137,504 (GRCm39) critical splice donor site probably null
R6091:Adad1 UTSW 3 37,139,118 (GRCm39) missense possibly damaging 0.93
R7230:Adad1 UTSW 3 37,119,315 (GRCm39) missense probably damaging 1.00
R7882:Adad1 UTSW 3 37,133,951 (GRCm39) missense probably damaging 1.00
R7994:Adad1 UTSW 3 37,146,120 (GRCm39) missense possibly damaging 0.67
R8342:Adad1 UTSW 3 37,134,050 (GRCm39) missense probably damaging 1.00
R9080:Adad1 UTSW 3 37,119,398 (GRCm39) missense probably benign 0.34
R9267:Adad1 UTSW 3 37,139,074 (GRCm39) unclassified probably benign
R9337:Adad1 UTSW 3 37,139,247 (GRCm39) missense possibly damaging 0.71
R9443:Adad1 UTSW 3 37,146,140 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16