Incidental Mutation 'IGL02244:Krt33b'
ID286087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Krt33b
Ensembl Gene ENSMUSG00000057723
Gene Namekeratin 33B
SynonymsHa3, Krt1-3, mHa3, Ha4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.071) question?
Stock #IGL02244
Quality Score
Status
Chromosome11
Chromosomal Location100023634-100029868 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100025363 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 258 (V258A)
Ref Sequence ENSEMBL: ENSMUSP00000073552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073890]
Predicted Effect probably benign
Transcript: ENSMUST00000073890
AA Change: V258A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000073552
Gene: ENSMUSG00000057723
AA Change: V258A

DomainStartEndE-ValueType
low complexity region 11 26 N/A INTRINSIC
Filament 55 366 1.39e-152 SMART
internal_repeat_1 368 390 8.93e-6 PROSPERO
internal_repeat_1 384 404 8.93e-6 PROSPERO
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Bpifb5 C T 2: 154,225,148 T107I possibly damaging Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Krt33b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01572:Krt33b APN 11 100026552 missense probably damaging 1.00
IGL01629:Krt33b APN 11 100029560 missense probably benign
IGL02811:Krt33b APN 11 100029569 missense probably benign 0.01
IGL03340:Krt33b APN 11 100025472 splice site probably benign
R1758:Krt33b UTSW 11 100025535 missense probably damaging 1.00
R2937:Krt33b UTSW 11 100024009 missense probably benign 0.27
R5414:Krt33b UTSW 11 100029786 missense probably benign 0.17
R5703:Krt33b UTSW 11 100025548 missense probably benign 0.04
R6307:Krt33b UTSW 11 100024868 missense probably benign
R7463:Krt33b UTSW 11 100029563 missense probably damaging 1.00
R7803:Krt33b UTSW 11 100025258 critical splice donor site probably null
Posted On2015-04-16