Incidental Mutation 'R6424:Katnb1'
ID 518266
Institutional Source Beutler Lab
Gene Symbol Katnb1
Ensembl Gene ENSMUSG00000031787
Gene Name katanin p80 (WD40-containing) subunit B 1
Synonyms KAT, 2410003J24Rik
MMRRC Submission 044387-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6424 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 95807804-95826502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95820144 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 97 (I97N)
Ref Sequence ENSEMBL: ENSMUSP00000034239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000212968]
AlphaFold Q8BG40
Predicted Effect probably damaging
Transcript: ENSMUST00000034239
AA Change: I97N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: I97N

DomainStartEndE-ValueType
WD40 9 49 2.61e-3 SMART
WD40 52 91 2.45e-8 SMART
WD40 94 133 3.58e-10 SMART
WD40 136 175 7.49e-13 SMART
WD40 178 217 5.14e-11 SMART
WD40 220 258 1.14e-3 SMART
low complexity region 354 373 N/A INTRINSIC
low complexity region 396 412 N/A INTRINSIC
Pfam:Katanin_con80 496 654 8.2e-59 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212895
Predicted Effect probably benign
Transcript: ENSMUST00000212968
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Microtubules, polymers of alpha and beta tubulin subunits, form the mitotic spindle of a dividing cell and help to organize membranous organelles during interphase. Katanin is a heterodimer that consists of a 60 kDa ATPase (p60 subunit A 1) and an 80 kDa accessory protein (p80 subunit B 1). The p60 subunit acts to sever and disassemble microtubules, while the p80 subunit targets the enzyme to the centrosome. Katanin is a member of the AAA family of ATPases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice exhibit embryonic lethality, small embryo, brain and limb bud size, variable eye defects, holoprosencephaly, and thin cerebral cortex with fewer cortical progenitors and post-mitotic neurons. Mutant MEFs form multiple centrioles, multipolar spindles, and supernumerary primary cilia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,542 (GRCm39) V4184A probably benign Het
Acvr2b T A 9: 119,231,645 (GRCm39) W12R probably benign Het
Arap2 T C 5: 62,840,707 (GRCm39) K720E probably damaging Het
Cr1l A C 1: 194,800,123 (GRCm39) F184V probably damaging Het
Haus8 C T 8: 71,704,080 (GRCm39) W359* probably null Het
Insm2 A T 12: 55,646,867 (GRCm39) I204F probably damaging Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Map2 A T 1: 66,453,946 (GRCm39) K945N possibly damaging Het
Meltf T A 16: 31,699,080 (GRCm39) C63* probably null Het
Nbas T C 12: 13,465,734 (GRCm39) probably null Het
Or5p1 G A 7: 107,916,412 (GRCm39) V104I probably benign Het
Raf1 T C 6: 115,596,542 (GRCm39) E594G probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Scgb2b19 A C 7: 32,978,022 (GRCm39) S92A possibly damaging Het
Serpinb3c T A 1: 107,199,359 (GRCm39) *387Y probably null Het
Shpk A T 11: 73,104,318 (GRCm39) I156F possibly damaging Het
Smarcd1 T C 15: 99,602,248 (GRCm39) F128L probably damaging Het
Tars3 G A 7: 65,305,487 (GRCm39) G237E probably damaging Het
Thap1 CAGCATCTGCTCGGAGCA CAGCA 8: 26,650,884 (GRCm39) probably null Het
Ttn T C 2: 76,719,848 (GRCm39) probably benign Het
Vmn1r223 T A 13: 23,434,345 (GRCm39) I313N probably damaging Het
Other mutations in Katnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01563:Katnb1 APN 8 95,824,787 (GRCm39) missense probably damaging 1.00
IGL02263:Katnb1 APN 8 95,816,703 (GRCm39) missense probably damaging 1.00
IGL02896:Katnb1 APN 8 95,822,656 (GRCm39) unclassified probably benign
H8562:Katnb1 UTSW 8 95,822,138 (GRCm39) unclassified probably benign
R0139:Katnb1 UTSW 8 95,825,050 (GRCm39) missense possibly damaging 0.90
R0418:Katnb1 UTSW 8 95,822,286 (GRCm39) missense possibly damaging 0.92
R0503:Katnb1 UTSW 8 95,821,802 (GRCm39) missense probably damaging 0.96
R1405:Katnb1 UTSW 8 95,824,801 (GRCm39) missense probably damaging 1.00
R1405:Katnb1 UTSW 8 95,824,801 (GRCm39) missense probably damaging 1.00
R3960:Katnb1 UTSW 8 95,813,925 (GRCm39) missense possibly damaging 0.48
R4866:Katnb1 UTSW 8 95,824,132 (GRCm39) missense possibly damaging 0.78
R4930:Katnb1 UTSW 8 95,823,922 (GRCm39) splice site probably null
R5160:Katnb1 UTSW 8 95,822,098 (GRCm39) missense probably benign 0.01
R5184:Katnb1 UTSW 8 95,824,608 (GRCm39) missense possibly damaging 0.80
R5333:Katnb1 UTSW 8 95,822,234 (GRCm39) missense possibly damaging 0.95
R5529:Katnb1 UTSW 8 95,824,300 (GRCm39) missense probably damaging 0.99
R5848:Katnb1 UTSW 8 95,825,340 (GRCm39) missense probably benign 0.09
R6478:Katnb1 UTSW 8 95,822,084 (GRCm39) missense possibly damaging 0.57
R6785:Katnb1 UTSW 8 95,822,270 (GRCm39) missense probably benign 0.04
R7009:Katnb1 UTSW 8 95,825,012 (GRCm39) missense probably damaging 0.99
R7174:Katnb1 UTSW 8 95,824,069 (GRCm39) missense probably benign 0.00
R7253:Katnb1 UTSW 8 95,822,125 (GRCm39) nonsense probably null
R7486:Katnb1 UTSW 8 95,825,357 (GRCm39) missense probably damaging 1.00
R7718:Katnb1 UTSW 8 95,821,836 (GRCm39) missense possibly damaging 0.78
R7996:Katnb1 UTSW 8 95,824,643 (GRCm39) missense possibly damaging 0.95
R8108:Katnb1 UTSW 8 95,820,573 (GRCm39) missense possibly damaging 0.94
R8163:Katnb1 UTSW 8 95,823,014 (GRCm39) missense probably damaging 1.00
R8353:Katnb1 UTSW 8 95,822,072 (GRCm39) missense probably damaging 1.00
R8963:Katnb1 UTSW 8 95,809,519 (GRCm39) missense probably damaging 0.99
R8971:Katnb1 UTSW 8 95,822,987 (GRCm39) missense probably damaging 1.00
R9137:Katnb1 UTSW 8 95,824,320 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- ATTGTGATTGATGCTGCCCG -3'
(R):5'- TAAGGATGTTGCCACGAGGG -3'

Sequencing Primer
(F):5'- TGGTACACACAGGCTACGG -3'
(R):5'- TTGCCACGAGGGGAAGATTCC -3'
Posted On 2018-05-24