Incidental Mutation 'IGL02344:AI182371'
ID 289219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI182371
Ensembl Gene ENSMUSG00000035875
Gene Name expressed sequence AI182371
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # IGL02344
Quality Score
Status
Chromosome 2
Chromosomal Location 34971873-34991555 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34979198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 167 (N167D)
Ref Sequence ENSEMBL: ENSMUSP00000154033 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045776] [ENSMUST00000134940] [ENSMUST00000226375] [ENSMUST00000226631] [ENSMUST00000226972]
AlphaFold A2AS37
Predicted Effect probably benign
Transcript: ENSMUST00000045776
AA Change: N157D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037754
Gene: ENSMUSG00000035875
AA Change: N157D

DomainStartEndE-ValueType
Pfam:A2M_N 133 227 4.7e-19 PFAM
ANATO 284 318 1.97e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134940
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151161
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154817
Predicted Effect probably benign
Transcript: ENSMUST00000226375
Predicted Effect probably benign
Transcript: ENSMUST00000226631
AA Change: N168D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
Predicted Effect probably benign
Transcript: ENSMUST00000226972
AA Change: N167D

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AI467606 G T 7: 126,691,691 (GRCm39) A89S probably damaging Het
Atrip T A 9: 108,901,692 (GRCm39) K122* probably null Het
B3glct C T 5: 149,650,313 (GRCm39) R139* probably null Het
Cep135 A G 5: 76,764,668 (GRCm39) T549A probably benign Het
Chd8 T C 14: 52,439,107 (GRCm39) N64S probably damaging Het
Dock2 T C 11: 34,622,337 (GRCm39) I101V probably damaging Het
Ipo5 T C 14: 121,180,191 (GRCm39) probably benign Het
Ly6g5c A G 17: 35,329,723 (GRCm39) T68A possibly damaging Het
Mthfd1l A G 10: 3,998,272 (GRCm39) probably null Het
Nme8 T A 13: 19,858,574 (GRCm39) E88V possibly damaging Het
Ptpn4 A T 1: 119,700,990 (GRCm39) D86E probably damaging Het
Rnf169 A G 7: 99,575,642 (GRCm39) S318P probably damaging Het
Sidt2 T C 9: 45,856,590 (GRCm39) Y493C probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tet3 A G 6: 83,380,815 (GRCm39) V451A probably benign Het
Tmc3 A T 7: 83,258,302 (GRCm39) I431L probably benign Het
Trp73 C T 4: 154,146,500 (GRCm39) G420S possibly damaging Het
Vmn2r108 T C 17: 20,689,405 (GRCm39) S517G probably damaging Het
Other mutations in AI182371
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:AI182371 APN 2 34,975,728 (GRCm39) missense probably benign 0.02
IGL02817:AI182371 APN 2 34,990,661 (GRCm39) missense probably damaging 0.99
IGL02961:AI182371 APN 2 34,976,124 (GRCm39) missense possibly damaging 0.53
3-1:AI182371 UTSW 2 34,990,619 (GRCm39) missense probably damaging 0.99
R0041:AI182371 UTSW 2 34,975,733 (GRCm39) missense possibly damaging 0.79
R0084:AI182371 UTSW 2 34,975,714 (GRCm39) critical splice donor site probably null
R0472:AI182371 UTSW 2 34,975,218 (GRCm39) missense probably benign 0.35
R1539:AI182371 UTSW 2 34,978,815 (GRCm39) missense probably damaging 0.98
R1634:AI182371 UTSW 2 34,976,497 (GRCm39) missense probably damaging 1.00
R1635:AI182371 UTSW 2 34,978,749 (GRCm39) splice site probably null
R1898:AI182371 UTSW 2 34,990,661 (GRCm39) missense probably damaging 0.99
R2065:AI182371 UTSW 2 34,976,441 (GRCm39) critical splice donor site probably null
R2155:AI182371 UTSW 2 34,975,366 (GRCm39) missense probably benign 0.00
R3694:AI182371 UTSW 2 34,975,764 (GRCm39) missense probably benign 0.00
R3900:AI182371 UTSW 2 34,975,228 (GRCm39) missense probably benign 0.01
R4766:AI182371 UTSW 2 34,985,829 (GRCm39) missense possibly damaging 0.78
R5071:AI182371 UTSW 2 34,975,227 (GRCm39) missense probably benign 0.17
R5500:AI182371 UTSW 2 34,990,650 (GRCm39) missense probably damaging 0.99
R5907:AI182371 UTSW 2 34,976,134 (GRCm39) missense possibly damaging 0.66
R6146:AI182371 UTSW 2 34,987,983 (GRCm39) missense probably damaging 1.00
R6333:AI182371 UTSW 2 34,975,281 (GRCm39) missense probably damaging 0.99
R6729:AI182371 UTSW 2 34,974,717 (GRCm39) intron probably benign
R6732:AI182371 UTSW 2 34,974,717 (GRCm39) intron probably benign
R6742:AI182371 UTSW 2 34,974,717 (GRCm39) intron probably benign
R6781:AI182371 UTSW 2 34,974,717 (GRCm39) intron probably benign
R7196:AI182371 UTSW 2 34,976,441 (GRCm39) critical splice donor site probably null
R7381:AI182371 UTSW 2 34,975,371 (GRCm39) missense probably damaging 1.00
R7458:AI182371 UTSW 2 34,976,516 (GRCm39) missense possibly damaging 0.95
R7466:AI182371 UTSW 2 34,978,753 (GRCm39) nonsense probably null
R8832:AI182371 UTSW 2 34,985,909 (GRCm39) missense unknown
R8933:AI182371 UTSW 2 34,975,714 (GRCm39) critical splice donor site probably null
R8942:AI182371 UTSW 2 34,990,622 (GRCm39) missense probably damaging 1.00
R8944:AI182371 UTSW 2 34,990,622 (GRCm39) missense probably damaging 1.00
R9690:AI182371 UTSW 2 34,990,600 (GRCm39) missense probably benign 0.19
RF009:AI182371 UTSW 2 34,979,209 (GRCm39) missense possibly damaging 0.90
Z1177:AI182371 UTSW 2 34,985,771 (GRCm39) critical splice donor site probably null
Posted On 2015-04-16