Incidental Mutation 'R2993:Katnbl1'
ID 257955
Institutional Source Beutler Lab
Gene Symbol Katnbl1
Ensembl Gene ENSMUSG00000027132
Gene Name katanin p80 subunit B like 1
Synonyms 2410042D21Rik
MMRRC Submission 040528-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.759) question?
Stock # R2993 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 112209556-112244582 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to T at 112238963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028552] [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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik A G 3: 124,372,184 (GRCm39) W67R probably damaging Het
Abca16 T C 7: 120,134,384 (GRCm39) V1377A probably damaging Het
Adarb2 A C 13: 8,763,752 (GRCm39) I550L probably benign Het
Afdn T C 17: 14,111,262 (GRCm39) probably null Het
Ago1 G T 4: 126,333,839 (GRCm39) probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Cdc7 G A 5: 107,121,764 (GRCm39) V226I probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cyp4a31 G A 4: 115,427,017 (GRCm39) V206I probably benign Het
Ddx47 G T 6: 134,995,944 (GRCm39) R120L probably damaging Het
Dnah7a G A 1: 53,542,713 (GRCm39) L2486F probably damaging Het
Eif3d A G 15: 77,845,905 (GRCm39) I372T possibly damaging Het
Eogt A T 6: 97,095,915 (GRCm39) probably null Het
Epb42 G A 2: 120,859,525 (GRCm39) probably benign Het
Fbxl2 T C 9: 113,818,484 (GRCm39) E159G possibly damaging Het
Gabrb2 T C 11: 42,488,476 (GRCm39) V314A probably damaging Het
Gpr15lg T A 14: 36,829,402 (GRCm39) H27L probably benign Het
Gtf2h3 T C 5: 124,721,997 (GRCm39) F32L probably benign Het
Gzmk A G 13: 113,317,011 (GRCm39) I56T probably damaging Het
Klhdc4 G C 8: 122,533,320 (GRCm39) S118* probably null Het
Klrb1-ps1 A T 6: 129,097,992 (GRCm39) K73N probably benign Het
Lrp1 T C 10: 127,446,250 (GRCm39) D98G probably damaging Het
Lrrfip1 C A 1: 91,032,956 (GRCm39) D313E probably damaging Het
Misp3 A G 8: 84,738,213 (GRCm39) L34P probably damaging Het
Mmp21 C T 7: 133,280,715 (GRCm39) R85H probably damaging Het
Mrpl16 A G 19: 11,751,895 (GRCm39) I218M possibly damaging Het
Mtmr4 T A 11: 87,495,823 (GRCm39) V553D probably damaging Het
Rap1gap2 C A 11: 74,298,148 (GRCm39) A491S possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spata31e2 A T 1: 26,724,909 (GRCm39) D90E possibly damaging Het
Vmn1r224 T A 17: 20,639,472 (GRCm39) S16R probably damaging Het
Vmn2r55 C T 7: 12,418,882 (GRCm39) A13T probably damaging Het
Zer1 A G 2: 29,991,909 (GRCm39) V637A probably damaging Het
Other mutations in Katnbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03155:Katnbl1 APN 2 112,239,577 (GRCm39) critical splice donor site probably null
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
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
Predicted Primers PCR Primer
(F):5'- TTGCCTTCCTGTTCTAACCAATAGG -3'
(R):5'- TACTATAAACCTCGTGGGAACAG -3'

Sequencing Primer
(F):5'- CTTTTAGTTTACAGGAAGAA -3'
(R):5'- CTCAGTGGGTAAATGAATCTGACCC -3'
Posted On 2015-01-11