Incidental Mutation 'R7174:Katnb1'
ID 558499
Institutional Source Beutler Lab
Gene Symbol Katnb1
Ensembl Gene ENSMUSG00000031787
Gene Name katanin p80 (WD40-containing) subunit B 1
Synonyms KAT, 2410003J24Rik
MMRRC Submission 045266-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7174 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 95807804-95826502 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 95824069 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 450 (A450T)
Ref Sequence ENSEMBL: ENSMUSP00000034239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034239] [ENSMUST00000034240] [ENSMUST00000169353] [ENSMUST00000169748] [ENSMUST00000212968] [ENSMUST00000213004]
AlphaFold Q8BG40
Predicted Effect probably benign
Transcript: ENSMUST00000034239
AA Change: A450T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034239
Gene: ENSMUSG00000031787
AA Change: A450T

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 probably benign
Transcript: ENSMUST00000212968
Predicted Effect probably benign
Transcript: ENSMUST00000213004
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C A 5: 144,981,627 (GRCm39) A154E probably benign Het
Adamts1 C A 16: 85,596,060 (GRCm39) A419S probably benign Het
Arap2 C G 5: 62,761,621 (GRCm39) V1702L probably benign Het
Arpc1a C T 5: 145,034,087 (GRCm39) P152S probably benign Het
Bbs10 T A 10: 111,136,628 (GRCm39) C580* probably null Het
Bcam A G 7: 19,499,376 (GRCm39) Y216H probably damaging Het
C2cd3 T C 7: 100,081,405 (GRCm39) S1016P Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam5 T A 7: 17,491,839 (GRCm39) probably null Het
Cfap57 A G 4: 118,446,264 (GRCm39) V666A probably benign Het
Cntn3 A G 6: 102,142,305 (GRCm39) F1021L probably benign Het
Cr1l C T 1: 194,811,497 (GRCm39) G119D probably benign Het
Fgf10 A T 13: 118,851,942 (GRCm39) H8L probably benign Het
Fras1 T A 5: 96,903,436 (GRCm39) probably null Het
Frem1 G T 4: 82,840,493 (GRCm39) T1811N probably benign Het
Fsd1 A T 17: 56,298,356 (GRCm39) Q227L probably benign Het
Galk2 A G 2: 125,738,621 (GRCm39) I138M probably damaging Het
Igkv8-30 A G 6: 70,094,582 (GRCm39) V7A possibly damaging Het
Kif14 A T 1: 136,448,995 (GRCm39) E1465V possibly damaging Het
Klra3 A T 6: 130,312,941 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lepr A G 4: 101,607,535 (GRCm39) N251S probably benign Het
Lrp2 T C 2: 69,263,416 (GRCm39) M4379V probably benign Het
Lrriq1 T C 10: 103,060,826 (GRCm39) N92S probably benign Het
Map3k13 A G 16: 21,745,006 (GRCm39) N855S probably damaging Het
Marf1 T A 16: 13,954,817 (GRCm39) D900V probably damaging Het
Nckap5l A T 15: 99,321,884 (GRCm39) M1087K probably benign Het
Nlrp9c T C 7: 26,084,722 (GRCm39) N286D probably benign Het
Or12j4 T C 7: 140,047,076 (GRCm39) *321Q probably null Het
Or13c7d C T 4: 43,770,691 (GRCm39) A107T not run Het
Or4k2 T C 14: 50,424,153 (GRCm39) I175V probably benign Het
Or51ah3 A T 7: 103,210,598 (GRCm39) R305* probably null Het
Or5g9 C T 2: 85,552,297 (GRCm39) P183S possibly damaging Het
Or5p72 T A 7: 108,022,367 (GRCm39) S196R probably benign Het
Pcdhga3 A G 18: 37,808,980 (GRCm39) T478A probably benign Het
Pdgfrb T C 18: 61,199,587 (GRCm39) I385T probably benign Het
Poteg C T 8: 27,943,305 (GRCm39) R192W probably benign Het
Prmt2 G T 10: 76,061,173 (GRCm39) D104E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rlbp1 T C 7: 79,027,090 (GRCm39) N190S possibly damaging Het
Ryr2 T C 13: 11,816,063 (GRCm39) D641G possibly damaging Het
Sh3gl1 A T 17: 56,324,846 (GRCm39) M303K probably benign Het
Slc26a5 A G 5: 22,018,892 (GRCm39) V649A probably damaging Het
Slco4c1 T C 1: 96,765,323 (GRCm39) N376D possibly damaging Het
Socs3 A T 11: 117,858,553 (GRCm39) Y168* probably null Het
Spata31d1d A T 13: 59,876,394 (GRCm39) N380K possibly damaging Het
Speer1c T C 5: 10,295,237 (GRCm39) K56E probably damaging Het
Ssbp3 A G 4: 106,894,843 (GRCm39) N254S probably benign Het
Stard10 C T 7: 100,995,226 (GRCm39) S326L probably damaging Het
Taf2 T C 15: 54,912,135 (GRCm39) D524G possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Tchh C T 3: 93,353,478 (GRCm39) R973C unknown Het
Tmem67 T C 4: 12,077,337 (GRCm39) R172G possibly damaging Het
Top2a C A 11: 98,914,922 (GRCm39) probably benign Het
Ttc8 T A 12: 98,940,960 (GRCm39) N323K possibly damaging Het
Txnl1 T C 18: 63,804,667 (GRCm39) N276D probably benign Het
Usp24 T G 4: 106,219,878 (GRCm39) probably null Het
Vmn1r18 A C 6: 57,366,609 (GRCm39) probably null Het
Vmn2r53 A T 7: 12,315,628 (GRCm39) H730Q probably benign Het
Wnk1 A C 6: 119,947,939 (GRCm39) I500M probably damaging Het
Zfp335 A T 2: 164,744,423 (GRCm39) Y451N probably damaging Het
Zfp683 T A 4: 133,783,064 (GRCm39) I176N 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
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
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'- GTTGCCGGTGCCAAATGTAC -3'
(R):5'- GTATCTGCGACATGGCATCC -3'

Sequencing Primer
(F):5'- TGCCAAATGTACGTCTGAGC -3'
(R):5'- TGCGACATGGCATCCTCGTC -3'
Posted On 2019-06-26