Incidental Mutation 'IGL03155:Katnbl1'
ID 411254
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katnbl1
Ensembl Gene ENSMUSG00000027132
Gene Name katanin p80 subunit B like 1
Synonyms 2410042D21Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.768) question?
Stock # IGL03155
Quality Score
Status
Chromosome 2
Chromosomal Location 112209556-112244582 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 112239577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028552] [ENSMUST00000141047]
AlphaFold Q9CWJ3
Predicted Effect probably null
Transcript: ENSMUST00000028552
SMART Domains Protein: ENSMUSP00000028552
Gene: ENSMUSG00000027132

DomainStartEndE-ValueType
Pfam:Katanin_con80 144 295 1.1e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141047
SMART Domains Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764

DomainStartEndE-ValueType
low complexity region 28 53 N/A INTRINSIC
SCOP:d1qqea_ 99 156 8e-3 SMART
Pfam:AA_permease 175 369 6.6e-25 PFAM
Pfam:AA_permease 438 746 3.6e-43 PFAM
Pfam:SLC12 758 884 6.8e-20 PFAM
Pfam:SLC12 877 1033 5.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151257
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1d C T 2: 131,388,001 (GRCm39) R518H probably benign Het
Akr7a5 T A 4: 139,041,837 (GRCm39) C190* probably null Het
Cct2 A T 10: 116,896,576 (GRCm39) L209Q probably damaging Het
Chordc1 T A 9: 18,215,616 (GRCm39) S123T possibly damaging Het
Crtap T C 9: 114,209,117 (GRCm39) D309G possibly damaging Het
Csf2 T C 11: 54,138,497 (GRCm39) T115A possibly damaging Het
Dgkb T A 12: 38,189,458 (GRCm39) I287N probably damaging Het
Dyrk1b G A 7: 27,882,112 (GRCm39) D98N probably benign Het
Eif4g1 T C 16: 20,511,167 (GRCm39) S1550P probably damaging Het
Fam83e A G 7: 45,376,499 (GRCm39) E404G possibly damaging Het
Fryl G A 5: 73,234,038 (GRCm39) P1496S probably benign Het
Fsip1 A T 2: 118,082,220 (GRCm39) N71K probably benign Het
Gm5092 A T 17: 21,314,970 (GRCm39) noncoding transcript Het
Gnb1l T A 16: 18,359,282 (GRCm39) probably null Het
Got1l1 T C 8: 27,689,360 (GRCm39) Y233C probably damaging Het
Kcnn2 A G 18: 45,818,382 (GRCm39) E493G probably damaging Het
Kif26b C T 1: 178,701,693 (GRCm39) R691W probably damaging Het
Lrp2 A T 2: 69,285,796 (GRCm39) probably benign Het
Mast3 A G 8: 71,241,861 (GRCm39) S107P probably damaging Het
Mrc1 A G 2: 14,335,912 (GRCm39) N1433D probably benign Het
Mycbp2 G A 14: 103,392,889 (GRCm39) S3114L probably benign Het
Naip6 T A 13: 100,452,932 (GRCm39) H43L possibly damaging Het
Nin A T 12: 70,078,544 (GRCm39) C1681S probably damaging Het
Nnmt C T 9: 48,503,352 (GRCm39) V225M probably damaging Het
Or2ag1b A T 7: 106,288,446 (GRCm39) M164K probably damaging Het
Or4c125 A T 2: 89,170,310 (GRCm39) M112K probably damaging Het
Phf21a T G 2: 92,150,611 (GRCm39) V64G probably damaging Het
Ptprd A T 4: 75,984,456 (GRCm39) S800R possibly damaging Het
Scarf2 C T 16: 17,625,413 (GRCm39) P823S probably benign Het
Scn5a T C 9: 119,341,248 (GRCm39) T1212A possibly damaging Het
Slc38a10 C T 11: 119,995,945 (GRCm39) V1043I probably damaging Het
Stxbp5 A T 10: 9,692,034 (GRCm39) L370Q probably null Het
Tas1r2 T C 4: 139,396,467 (GRCm39) V602A possibly damaging Het
Tatdn1 T C 15: 58,788,045 (GRCm39) probably benign Het
Tdrd6 A T 17: 43,936,398 (GRCm39) L1550Q probably damaging Het
Tet3 G T 6: 83,345,365 (GRCm39) R1556S probably damaging Het
Tnpo2 T A 8: 85,771,709 (GRCm39) I249N probably benign Het
Tnxb G T 17: 34,932,569 (GRCm39) V2263F probably damaging Het
Trim75 C T 8: 65,435,992 (GRCm39) V153M possibly damaging Het
Ttc21a T A 9: 119,773,042 (GRCm39) probably null Het
Tuft1 T A 3: 94,541,821 (GRCm39) I61L possibly damaging Het
Usp43 T C 11: 67,767,315 (GRCm39) D680G probably damaging Het
Vac14 A G 8: 111,362,975 (GRCm39) I274V possibly damaging Het
Vmn1r222 T A 13: 23,416,863 (GRCm39) R117W probably damaging Het
Vmn1r83 T C 7: 12,055,617 (GRCm39) M147V probably benign Het
Vmn2r43 T A 7: 8,258,068 (GRCm39) I382L possibly damaging Het
Vmn2r63 C T 7: 42,552,878 (GRCm39) V793I probably damaging Het
Vopp1 A G 6: 57,739,492 (GRCm39) Y19H possibly damaging Het
Yeats2 T C 16: 20,048,323 (GRCm39) probably null Het
Other mutations in Katnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0053:Katnbl1 UTSW 2 112,234,586 (GRCm39) missense probably benign 0.29
R0053:Katnbl1 UTSW 2 112,234,586 (GRCm39) missense probably benign 0.29
R1676:Katnbl1 UTSW 2 112,236,454 (GRCm39) missense probably damaging 1.00
R1917:Katnbl1 UTSW 2 112,239,524 (GRCm39) missense probably benign 0.36
R2990:Katnbl1 UTSW 2 112,234,585 (GRCm39) missense probably damaging 1.00
R2993:Katnbl1 UTSW 2 112,238,963 (GRCm39) splice site probably null
R5188:Katnbl1 UTSW 2 112,240,499 (GRCm39) missense probably damaging 1.00
R7613:Katnbl1 UTSW 2 112,239,538 (GRCm39) missense probably benign 0.01
R9652:Katnbl1 UTSW 2 112,239,497 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02