Incidental Mutation 'IGL01598:AU018091'
ID91753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AU018091
Ensembl Gene ENSMUSG00000054753
Gene Nameexpressed sequence AU018091
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.274) question?
Stock #IGL01598
Quality Score
Status
Chromosome7
Chromosomal Location3154658-3169203 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3162270 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 204 (I204N)
Ref Sequence ENSEMBL: ENSMUSP00000126800 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000171749
AA Change: I204N

PolyPhen 2 Score 0.713 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: I204N

DomainStartEndE-ValueType
Pfam:AA_permease_2 82 504 2.9e-47 PFAM
Pfam:AA_permease 86 481 3.5e-31 PFAM
transmembrane domain 541 563 N/A INTRINSIC
transmembrane domain 573 593 N/A INTRINSIC
Pfam:AA_permease_C 604 654 9.4e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000203937
SMART Domains Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753

DomainStartEndE-ValueType
Pfam:AA_permease_2 73 177 7.9e-11 PFAM
Pfam:AA_permease 77 176 3.1e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205185
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410124H12Rik T A 16: 92,478,929 noncoding transcript Het
Apc2 T A 10: 80,313,048 L1283Q probably damaging Het
Apol6 G A 15: 77,050,716 A62T probably damaging Het
B4galnt4 G T 7: 141,070,515 R765L probably benign Het
Brca1 T C 11: 101,524,330 T993A probably benign Het
Cadps C T 14: 12,522,202 probably null Het
Ccdc177 A G 12: 80,758,745 S252P unknown Het
Cdc73 A G 1: 143,699,279 S59P probably damaging Het
Cep63 G T 9: 102,590,458 Q570K possibly damaging Het
Ces1c A T 8: 93,118,413 I120K probably benign Het
Cpeb1 T C 7: 81,361,801 M131V probably benign Het
Dync1h1 G A 12: 110,658,128 V3701I probably damaging Het
Fxr1 T C 3: 34,064,232 S535P possibly damaging Het
Gldc A T 19: 30,133,756 V540D probably damaging Het
Iqcf6 A G 9: 106,627,508 T124A probably benign Het
Itih4 A G 14: 30,887,817 I35V possibly damaging Het
Kmt2c A T 5: 25,354,771 V963E probably damaging Het
Kmt2c T C 5: 25,273,666 *1525W probably null Het
Lmnb2 T C 10: 80,907,165 S202G probably benign Het
Med23 T G 10: 24,903,798 S924R probably benign Het
Olfr1454 T C 19: 13,064,149 V246A probably damaging Het
Pcif1 T C 2: 164,886,611 F263L possibly damaging Het
Pon2 A T 6: 5,272,331 L163H probably damaging Het
Scn1a C T 2: 66,302,485 V165M possibly damaging Het
Sema6d C A 2: 124,665,098 P961Q probably damaging Het
Snx27 A G 3: 94,561,843 Y64H probably damaging Het
Srsf11 C T 3: 158,012,035 probably benign Het
Taok1 A G 11: 77,571,684 V193A probably damaging Het
Vps13d T C 4: 145,016,901 T4137A probably benign Het
Zbtb26 T C 2: 37,436,271 Y251C probably damaging Het
Zcchc11 A G 4: 108,550,820 probably benign Het
Other mutations in AU018091
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00899:AU018091 APN 7 3158763 missense probably benign 0.01
IGL01063:AU018091 APN 7 3162313 missense possibly damaging 0.62
IGL03253:AU018091 APN 7 3164172 missense probably damaging 1.00
IGL03386:AU018091 APN 7 3161267 missense probably damaging 1.00
IGL02835:AU018091 UTSW 7 3169071 missense unknown
R0070:AU018091 UTSW 7 3158898 splice site probably null
R0070:AU018091 UTSW 7 3158898 splice site probably null
R0733:AU018091 UTSW 7 3159161 missense probably damaging 1.00
R1221:AU018091 UTSW 7 3158877 missense probably damaging 1.00
R1467:AU018091 UTSW 7 3164259 missense probably benign 0.01
R1467:AU018091 UTSW 7 3164259 missense probably benign 0.01
R1708:AU018091 UTSW 7 3156344 missense probably damaging 1.00
R1990:AU018091 UTSW 7 3162264 missense probably benign 0.25
R4043:AU018091 UTSW 7 3159122 missense probably damaging 1.00
R4369:AU018091 UTSW 7 3157975 nonsense probably null
R4501:AU018091 UTSW 7 3159079 missense probably benign 0.25
R4595:AU018091 UTSW 7 3158428 missense possibly damaging 0.91
R4853:AU018091 UTSW 7 3156021 missense probably damaging 1.00
R6834:AU018091 UTSW 7 3157955 missense probably benign 0.06
R6836:AU018091 UTSW 7 3164156 missense probably damaging 1.00
R6941:AU018091 UTSW 7 3159427 critical splice donor site probably null
R7153:AU018091 UTSW 7 3159513 missense probably benign 0.01
R7196:AU018091 UTSW 7 3163958 missense probably damaging 1.00
R7237:AU018091 UTSW 7 3159166 missense probably benign 0.00
R7366:AU018091 UTSW 7 3156330 missense probably damaging 1.00
Posted On2013-12-09