Incidental Mutation 'IGL00499:AW554918'
ID332236
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol AW554918
Ensembl Gene ENSMUSG00000033632
Gene Nameexpressed sequence AW554918
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.062) question?
Stock #IGL00499
Quality Score
Status
Chromosome18
Chromosomal Location25168999-25467321 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 25420065 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 542 (K542*)
Ref Sequence ENSEMBL: ENSMUSP00000128437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]
Predicted Effect probably null
Transcript: ENSMUST00000036619
AA Change: K509*
SMART Domains Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: K509*

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.4e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000097643
AA Change: K542*
SMART Domains Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: K542*

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 2.5e-154 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100131
AA Change: K306*
SMART Domains Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: K306*

DomainStartEndE-ValueType
Pfam:KIAA1328 1 211 9.6e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159605
Predicted Effect probably benign
Transcript: ENSMUST00000160530
Predicted Effect probably null
Transcript: ENSMUST00000165400
AA Change: K542*
SMART Domains Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: K542*

DomainStartEndE-ValueType
Pfam:KIAA1328 92 414 1.6e-160 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,875,308 noncoding transcript Het
Abcb9 T C 5: 124,077,238 D480G possibly damaging Het
Adam26a A T 8: 43,568,859 N531K possibly damaging Het
Blk A G 14: 63,380,720 F246L probably damaging Het
Camk1 T C 6: 113,336,211 E292G probably benign Het
Ccdc88a C T 11: 29,499,341 T261I probably benign Het
Cep290 A T 10: 100,543,327 Q57L probably damaging Het
Cpsf1 A T 15: 76,600,216 H688Q probably benign Het
Cryz T C 3: 154,604,942 V13A possibly damaging Het
Dst A G 1: 34,290,423 K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 V371E possibly damaging Het
Eps8 C A 6: 137,522,888 E181* probably null Het
Flt4 T C 11: 49,635,261 I796T probably damaging Het
Gmps A G 3: 64,014,367 N597S probably benign Het
Itgav T A 2: 83,802,995 M1011K probably damaging Het
Kif16b A G 2: 142,857,324 M112T probably damaging Het
Lig1 T C 7: 13,298,830 probably null Het
Lrrc30 A G 17: 67,632,039 F182S probably damaging Het
Oxsm A T 14: 16,242,076 M231K probably damaging Het
Pnisr T C 4: 21,870,407 probably null Het
Rsrc1 A T 3: 67,082,600 probably benign Het
Setd1b A T 5: 123,158,747 probably benign Het
Tbx6 A G 7: 126,781,529 Y8C probably damaging Het
Tmem33 T C 5: 67,284,195 Y196H probably damaging Het
Traf5 T C 1: 192,057,174 D96G possibly damaging Het
Tsc22d1 T A 14: 76,418,917 D945E probably damaging Het
Tubb2b T C 13: 34,128,346 I155V probably benign Het
Usp13 T A 3: 32,881,411 Y328N probably damaging Het
Usp17lc G A 7: 103,418,466 D323N probably damaging Het
Usp17lc G A 7: 103,418,465 M322I probably damaging Het
Zfp341 C T 2: 154,634,231 T446I probably damaging Het
Zfp407 A G 18: 84,561,752 L412P probably damaging Het
Zfp521 T A 18: 13,939,120 D21V probably benign Het
Zranb1 A G 7: 132,982,504 probably benign Het
Other mutations in AW554918
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01443:AW554918 APN 18 25344955 missense probably damaging 1.00
IGL01973:AW554918 APN 18 25419999 missense probably damaging 1.00
IGL02743:AW554918 APN 18 25289944 nonsense probably null
PIT4802001:AW554918 UTSW 18 25340075 missense possibly damaging 0.90
R0081:AW554918 UTSW 18 25344902 missense probably benign 0.00
R0567:AW554918 UTSW 18 25400035 missense possibly damaging 0.83
R0709:AW554918 UTSW 18 25463654 missense probably damaging 1.00
R1052:AW554918 UTSW 18 25420010 missense probably benign 0.05
R1418:AW554918 UTSW 18 25339699 splice site probably null
R1530:AW554918 UTSW 18 25400104 missense probably damaging 0.97
R2406:AW554918 UTSW 18 25340287 missense possibly damaging 0.95
R3414:AW554918 UTSW 18 25400072 missense possibly damaging 0.76
R3815:AW554918 UTSW 18 25400047 missense probably benign 0.42
R4683:AW554918 UTSW 18 25339795 missense probably benign 0.04
R4722:AW554918 UTSW 18 25174715 nonsense probably null
R4843:AW554918 UTSW 18 25340000 missense probably benign 0.00
R5199:AW554918 UTSW 18 25340299 missense probably damaging 1.00
R5279:AW554918 UTSW 18 25175431 missense possibly damaging 0.95
R5580:AW554918 UTSW 18 25339865 missense probably damaging 1.00
R7259:AW554918 UTSW 18 25289849 intron probably null
R7388:AW554918 UTSW 18 25340113 missense probably benign 0.05
R7399:AW554918 UTSW 18 25169060 missense possibly damaging 0.67
Posted On2015-08-05