Incidental Mutation 'R0503:Katnb1'
ID 47259
Institutional Source Beutler Lab
Gene Symbol Katnb1
Ensembl Gene ENSMUSG00000031787
Gene Name katanin p80 (WD40-containing) subunit B 1
Synonyms KAT, 2410003J24Rik
MMRRC Submission 038698-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0503 (G1)
Quality Score 211
Status Validated
Chromosome 8
Chromosomal Location 95807804-95826502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 95821802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 212 (T212A)
Ref Sequence ENSEMBL: ENSMUSP00000034239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212968]
AlphaFold Q8BG40
Predicted Effect probably damaging
Transcript: ENSMUST00000034239
AA Change: T212A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: T212A

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 probably benign
Transcript: ENSMUST00000034240
SMART Domains Protein: ENSMUSP00000034240
Gene: ENSMUSG00000031788

DomainStartEndE-ValueType
low complexity region 33 46 N/A INTRINSIC
coiled coil region 100 360 N/A INTRINSIC
coiled coil region 393 430 N/A INTRINSIC
KISc 441 774 3.15e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169353
SMART Domains Protein: ENSMUSP00000127427
Gene: ENSMUSG00000031788

DomainStartEndE-ValueType
coiled coil region 33 223 N/A INTRINSIC
coiled coil region 256 293 N/A INTRINSIC
KISc 304 637 3.15e-158 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000169748
SMART Domains Protein: ENSMUSP00000126784
Gene: ENSMUSG00000031788

DomainStartEndE-ValueType
coiled coil region 34 324 N/A INTRINSIC
coiled coil region 357 394 N/A INTRINSIC
KISc 405 728 3.11e-148 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212448
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212528
Predicted Effect probably benign
Transcript: ENSMUST00000212968
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212565
Meta Mutation Damage Score 0.5693 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (57/58)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,838,322 (GRCm39) H755R possibly damaging Het
Atp2c2 A G 8: 120,461,316 (GRCm39) E279G probably null Het
Ccdc65 G T 15: 98,607,041 (GRCm39) D83Y probably damaging Het
Cd200r2 T A 16: 44,698,325 (GRCm39) M1K probably null Het
Clca4c-ps A T 3: 144,585,583 (GRCm39) noncoding transcript Het
Col6a6 A T 9: 105,644,550 (GRCm39) M1246K probably benign Het
Comp A T 8: 70,828,384 (GRCm39) N130I possibly damaging Het
Crot A G 5: 9,026,075 (GRCm39) V304A possibly damaging Het
Dapk1 T A 13: 60,878,662 (GRCm39) probably null Het
Dspp A T 5: 104,325,122 (GRCm39) D495V unknown Het
Erich2 A T 2: 70,340,043 (GRCm39) R169S probably damaging Het
Erich2 C A 2: 70,371,119 (GRCm39) S426R unknown Het
Gab1 C T 8: 81,526,771 (GRCm39) R109H probably damaging Het
Ggcx GTCTAT GTCTATCTAT 6: 72,406,140 (GRCm39) probably null Het
Gria1 T G 11: 57,080,542 (GRCm39) V175G probably damaging Het
Hmcn1 C T 1: 150,735,003 (GRCm39) V170M probably damaging Het
Irx4 T A 13: 73,414,703 (GRCm39) probably null Het
Kirrel1 A G 3: 87,005,109 (GRCm39) S80P probably benign Het
Lrrc75b T C 10: 75,389,488 (GRCm39) T81A possibly damaging Het
Macf1 A G 4: 123,363,608 (GRCm39) S1775P probably damaging Het
Mmp10 A T 9: 7,507,340 (GRCm39) I387F probably damaging Het
Mphosph10 A T 7: 64,039,641 (GRCm39) C110S probably benign Het
Mpig6b A G 17: 35,283,424 (GRCm39) probably benign Het
Mrps27 G T 13: 99,546,303 (GRCm39) probably benign Het
Muc6 G T 7: 141,218,685 (GRCm39) T1996N possibly damaging Het
Mybpc2 A G 7: 44,161,994 (GRCm39) probably benign Het
Nbea C T 3: 55,550,257 (GRCm39) G2724S possibly damaging Het
Nck2 A G 1: 43,572,728 (GRCm39) M1V probably null Het
Nefl T A 14: 68,321,432 (GRCm39) D7E probably benign Het
Nktr T A 9: 121,579,806 (GRCm39) probably benign Het
Nlrp12 C T 7: 3,298,007 (GRCm39) E55K probably damaging Het
Nsun7 T A 5: 66,440,924 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,772 (GRCm39) Y250C probably damaging Het
Or4c109 C T 2: 88,818,322 (GRCm39) V75I probably benign Het
Or4k5 T A 14: 50,385,935 (GRCm39) Y132F probably damaging Het
Or51a5 A T 7: 102,771,643 (GRCm39) M112K possibly damaging Het
Or6c2b T C 10: 128,947,671 (GRCm39) T208A probably damaging Het
Or6f2 T C 7: 139,756,354 (GRCm39) V113A possibly damaging Het
Pcdh15 A G 10: 74,046,217 (GRCm39) T165A probably damaging Het
Pikfyve A T 1: 65,259,058 (GRCm39) H410L probably damaging Het
Polr3c A T 3: 96,620,952 (GRCm39) probably null Het
Ptdss2 T A 7: 140,731,710 (GRCm39) probably benign Het
Ptprg A G 14: 12,237,138 (GRCm38) M1386V possibly damaging Het
Ptpru T C 4: 131,520,954 (GRCm39) N784S probably benign Het
Rfx4 T A 10: 84,730,196 (GRCm39) I495K possibly damaging Het
Serpina12 C A 12: 103,997,418 (GRCm39) A368S probably damaging Het
Tmem39b A C 4: 129,580,779 (GRCm39) Y238D possibly damaging Het
Tspan11 T C 6: 127,916,075 (GRCm39) W124R probably benign Het
Ttll10 T C 4: 156,132,005 (GRCm39) probably benign Het
Tyro3 T C 2: 119,633,711 (GRCm39) probably benign Het
Unc79 A G 12: 103,045,127 (GRCm39) M644V probably benign Het
Vmn1r196 G A 13: 22,477,557 (GRCm39) M65I probably benign Het
Vmn2r85 T C 10: 130,258,609 (GRCm39) Y482C probably damaging Het
Zfp940 A G 7: 29,545,445 (GRCm39) probably benign Het
Zfyve9 A T 4: 108,576,961 (GRCm39) L40* probably null Het
Zkscan1 T A 5: 138,091,588 (GRCm39) I107N 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
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
R6424:Katnb1 UTSW 8 95,820,144 (GRCm39) missense probably damaging 1.00
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'- AGTGTCCTGCTCTGTACTGACCTG -3'
(R):5'- TGGGAGAAAGCCACACCTATCTGC -3'

Sequencing Primer
(F):5'- GAGACCCCTGGCAATTGAG -3'
(R):5'- TTGCCCCAGTTGACAAGGAC -3'
Posted On 2013-06-12