Incidental Mutation 'IGL02344:AI182371'
ID289219
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AI182371
Ensembl Gene ENSMUSG00000035875
Gene Nameexpressed sequence AI182371
Synonyms
Accession Numbers

Genbank: NM_178885; MGI: 2138853

Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL02344
Quality Score
Status
Chromosome2
Chromosomal Location35081861-35101543 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 35089186 bp
ZygosityHeterozygous
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]
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
4930572O03Rik C A 5: 15,656,886 probably benign Het
AI467606 G T 7: 127,092,519 A89S probably damaging Het
Atrip T A 9: 109,072,624 K122* probably null Het
B3glct C T 5: 149,726,848 R139* probably null Het
Cep135 A G 5: 76,616,821 T549A probably benign Het
Chd8 T C 14: 52,201,650 N64S probably damaging Het
Dock2 T C 11: 34,731,510 I101V probably damaging Het
Ipo5 T C 14: 120,942,779 probably benign Het
Ly6g5c A G 17: 35,110,747 T68A possibly damaging Het
Mthfd1l A G 10: 4,048,272 probably null Het
Nme8 T A 13: 19,674,404 E88V possibly damaging Het
Ptpn4 A T 1: 119,773,260 D86E probably damaging Het
Rnf169 A G 7: 99,926,435 S318P probably damaging Het
Sidt2 T C 9: 45,945,292 Y493C probably null Het
Tet3 A G 6: 83,403,833 V451A probably benign Het
Tmc3 A T 7: 83,609,094 I431L probably benign Het
Trp73 C T 4: 154,062,043 G420S possibly damaging Het
Vmn2r108 T C 17: 20,469,143 S517G probably damaging Het
Other mutations in AI182371
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02338:AI182371 APN 2 35085716 missense probably benign 0.02
IGL02817:AI182371 APN 2 35100649 missense probably damaging 0.99
IGL02961:AI182371 APN 2 35086112 missense possibly damaging 0.53
3-1:AI182371 UTSW 2 35100607 missense probably damaging 0.99
R0041:AI182371 UTSW 2 35085721 missense possibly damaging 0.79
R0084:AI182371 UTSW 2 35085702 critical splice donor site probably null
R0472:AI182371 UTSW 2 35085206 missense probably benign 0.35
R1539:AI182371 UTSW 2 35088803 missense probably damaging 0.98
R1634:AI182371 UTSW 2 35086485 missense probably damaging 1.00
R1635:AI182371 UTSW 2 35088737 splice site probably null
R1898:AI182371 UTSW 2 35100649 missense probably damaging 0.99
R2065:AI182371 UTSW 2 35086429 critical splice donor site probably null
R2155:AI182371 UTSW 2 35085354 missense probably benign 0.00
R3694:AI182371 UTSW 2 35085752 missense probably benign 0.00
R3900:AI182371 UTSW 2 35085216 missense probably benign 0.01
R4766:AI182371 UTSW 2 35095817 missense possibly damaging 0.78
R5071:AI182371 UTSW 2 35085215 missense probably benign 0.17
R5500:AI182371 UTSW 2 35100638 missense probably damaging 0.99
R5907:AI182371 UTSW 2 35086122 missense possibly damaging 0.66
R6146:AI182371 UTSW 2 35097971 missense probably damaging 1.00
R6333:AI182371 UTSW 2 35085269 missense probably damaging 0.99
R6729:AI182371 UTSW 2 35084705 intron probably benign
R6732:AI182371 UTSW 2 35084705 intron probably benign
R6742:AI182371 UTSW 2 35084705 intron probably benign
R6781:AI182371 UTSW 2 35084705 intron probably benign
R7196:AI182371 UTSW 2 35086429 critical splice donor site probably null
R7381:AI182371 UTSW 2 35085359 missense probably damaging 1.00
R7458:AI182371 UTSW 2 35086504 missense possibly damaging 0.95
R7466:AI182371 UTSW 2 35088741 nonsense probably null
RF009:AI182371 UTSW 2 35089197 missense possibly damaging 0.90
Posted On2015-04-16