Incidental Mutation 'IGL03182:AU019823'
ID412279
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AU019823
Ensembl Gene ENSMUSG00000059820
Gene Nameexpressed sequence AU019823
SynonymsLOC270156
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.727) question?
Stock #IGL03182
Quality Score
Status
Chromosome9
Chromosomal Location50605240-50617464 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 50612398 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 50 (N50S)
Ref Sequence ENSEMBL: ENSMUSP00000133259 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000171] [ENSMUST00000131351] [ENSMUST00000132187] [ENSMUST00000145139] [ENSMUST00000147671] [ENSMUST00000151197] [ENSMUST00000155435] [ENSMUST00000171462]
Predicted Effect probably benign
Transcript: ENSMUST00000000171
SMART Domains Protein: ENSMUSP00000000171
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 314 4.1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124029
Predicted Effect possibly damaging
Transcript: ENSMUST00000131351
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000123319
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000132187
SMART Domains Protein: ENSMUSP00000118064
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 92 1.7e-19 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000145139
AA Change: N50S

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000147671
AA Change: N50S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000117265
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151197
SMART Domains Protein: ENSMUSP00000119253
Gene: ENSMUSG00000000167

DomainStartEndE-ValueType
Pfam:PIH1 19 235 1.7e-51 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000155435
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121198
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
low complexity region 142 175 N/A INTRINSIC
low complexity region 198 214 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000171462
AA Change: N50S

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133259
Gene: ENSMUSG00000059820
AA Change: N50S

DomainStartEndE-ValueType
Pfam:NKAP 86 163 5.2e-26 PFAM
low complexity region 198 216 N/A INTRINSIC
low complexity region 224 256 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agbl3 A T 6: 34,803,500 K469N probably damaging Het
Aldh2 A G 5: 121,580,724 probably benign Het
Ankfy1 T C 11: 72,728,754 probably benign Het
Ankhd1 C T 18: 36,578,774 T209I probably benign Het
Aox3 G A 1: 58,165,887 V754I probably benign Het
Arfgef3 C T 10: 18,600,544 R1509H probably damaging Het
Ccdc157 A G 11: 4,151,832 S30P probably damaging Het
Cept1 T A 3: 106,504,550 E369D probably damaging Het
Clcnka T C 4: 141,394,487 Y236C probably damaging Het
Ddx42 A T 11: 106,247,527 L717F probably benign Het
Dnah11 A T 12: 118,030,291 I2340N probably damaging Het
Dsel T C 1: 111,860,138 E889G probably damaging Het
Fasn T C 11: 120,812,726 Y1560C probably damaging Het
Fermt2 A T 14: 45,461,768 M623K possibly damaging Het
Gm21970 T A 16: 91,393,838 S110T possibly damaging Het
Gm826 T A 2: 160,327,115 R91S unknown Het
Lrrn3 A G 12: 41,454,021 L99S probably damaging Het
Megf8 T A 7: 25,347,348 M1552K possibly damaging Het
Mgll G T 6: 88,823,191 V191F probably damaging Het
Nol8 C A 13: 49,664,081 H778N probably damaging Het
Olfr1090 A T 2: 86,754,022 S239T probably damaging Het
Olfr1471 A C 19: 13,445,443 T144P possibly damaging Het
Olfr385 T A 11: 73,589,442 T99S probably benign Het
Olfr948 A T 9: 39,318,981 M211K probably benign Het
Pfkfb3 A T 2: 11,501,663 I13N probably damaging Het
Pim1 T A 17: 29,491,766 D114E possibly damaging Het
Pkd1 T C 17: 24,573,818 L1493P probably damaging Het
Plb1 A T 5: 32,344,915 probably benign Het
Plch1 A T 3: 63,702,594 Y872* probably null Het
Rictor A G 15: 6,789,598 D1434G probably benign Het
Rptor G A 11: 119,725,145 G162R probably damaging Het
Serping1 T C 2: 84,765,818 D424G probably damaging Het
Slit2 A G 5: 48,220,053 I475V possibly damaging Het
Snx31 G T 15: 36,525,687 Q289K probably benign Het
Tbc1d13 G A 2: 30,147,367 A254T probably damaging Het
Tek T C 4: 94,851,765 I750T probably damaging Het
Tet2 A T 3: 133,471,398 L1296* probably null Het
Tmem145 T A 7: 25,314,879 F459I probably damaging Het
Uba5 A T 9: 104,054,129 V247D possibly damaging Het
Vmn1r83 T C 7: 12,321,690 M147V probably benign Het
Vwde T C 6: 13,187,139 D783G probably damaging Het
Zfp609 A G 9: 65,701,005 S1198P probably benign Het
Other mutations in AU019823
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02879:AU019823 APN 9 50609371 critical splice donor site probably null
R0021:AU019823 UTSW 9 50610425 missense probably damaging 0.96
R0021:AU019823 UTSW 9 50610425 missense probably damaging 0.96
R0280:AU019823 UTSW 9 50609379 missense probably damaging 1.00
R0304:AU019823 UTSW 9 50607922 missense probably damaging 0.99
R1438:AU019823 UTSW 9 50607672 missense possibly damaging 0.72
R1613:AU019823 UTSW 9 50607805 missense probably damaging 1.00
R4941:AU019823 UTSW 9 50607509 missense probably benign 0.00
R5983:AU019823 UTSW 9 50607842 missense probably damaging 0.96
R6226:AU019823 UTSW 9 50607770 missense possibly damaging 0.53
R6228:AU019823 UTSW 9 50607671 missense possibly damaging 0.73
R6318:AU019823 UTSW 9 50607461 missense probably benign 0.00
R6923:AU019823 UTSW 9 50610310 missense probably benign
R7841:AU019823 UTSW 9 50610416 missense probably damaging 0.98
R8325:AU019823 UTSW 9 50610308 missense probably benign
Posted On2016-08-02