Incidental Mutation 'IGL00332:Katna1'
ID 28286
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katna1
Ensembl Gene ENSMUSG00000019794
Gene Name katanin p60 (ATPase-containing) subunit A1
Synonyms
Accession Numbers

Ncbi RefSeq: NM_011835.2; MGI:1344353
Essential gene? Probably essential (E-score: 0.839) question?
Stock # IGL00332
Quality Score
Status
Chromosome 10
Chromosomal Location 7726000-7763150 bp(+) (GRCm38)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 7762994 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019929] [ENSMUST00000039763] [ENSMUST00000124838] [ENSMUST00000165806] [ENSMUST00000173511] [ENSMUST00000174007]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019929
SMART Domains Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 2e-44 PDB
AAA 241 383 5.2e-22 SMART
low complexity region 387 400 N/A INTRINSIC
Pfam:Vps4_C 438 489 3.4e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000039763
SMART Domains Protein: ENSMUSP00000040961
Gene: ENSMUSG00000040006

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 260 282 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000124838
SMART Domains Protein: ENSMUSP00000119129
Gene: ENSMUSG00000040006

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
transmembrane domain 261 283 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133796
Predicted Effect probably benign
Transcript: ENSMUST00000165806
SMART Domains Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
PDB:2RPA|A 1 74 6e-46 PDB
AAA 243 385 3.23e-20 SMART
low complexity region 389 402 N/A INTRINSIC
Pfam:Vps4_C 440 491 4.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172400
Predicted Effect probably benign
Transcript: ENSMUST00000173511
SMART Domains Protein: ENSMUSP00000134254
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
SCOP:d1e32a2 2 43 3e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174007
SMART Domains Protein: ENSMUSP00000133321
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
Pfam:AAA 1 60 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174654
Coding Region Coverage
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. This gene encodes the p80 subunit. This protein is a member of the AAA family of ATPases. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2011]
Allele List at MGI

All alleles(15) : Targeted(2) Gene trapped(13)
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 T C 3: 97,176,421 Y404H possibly damaging Het
Adgrv1 T A 13: 81,472,877 probably benign Het
Akap13 A G 7: 75,728,919 K2107E probably damaging Het
Ankrd42 A G 7: 92,584,454 probably benign Het
Apba3 C T 10: 81,273,067 P555S probably damaging Het
Aplnr A G 2: 85,137,641 S337G probably benign Het
Arhgef40 A G 14: 51,988,960 N154D probably damaging Het
Asb14 A G 14: 26,912,041 K401R probably benign Het
Aspn C A 13: 49,566,492 T328K probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Brca2 T A 5: 150,539,898 H1042Q probably benign Het
C3 A G 17: 57,226,004 L167P probably benign Het
Ccdc33 A G 9: 58,069,974 probably benign Het
Cdk10 T A 8: 123,230,324 M222K possibly damaging Het
Cfap45 C T 1: 172,535,345 probably benign Het
Chil3 T A 3: 106,148,701 N352I probably damaging Het
Chn2 G T 6: 54,295,922 probably null Het
Cpt1b T C 15: 89,420,863 E394G probably benign Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgr2b T A 1: 170,961,230 N273I possibly damaging Het
Fpr-rs7 G A 17: 20,113,218 Q337* probably null Het
Fras1 T A 5: 96,739,358 N2666K possibly damaging Het
Gfra3 C T 18: 34,691,548 probably null Het
Gm4553 T C 7: 142,165,227 S155G unknown Het
Gpr75 C T 11: 30,891,590 T165I probably damaging Het
Gzmd A T 14: 56,130,280 C179S probably damaging Het
Hand1 T G 11: 57,831,749 H13P probably damaging Het
Irak3 C T 10: 120,178,067 probably null Het
Isl2 T A 9: 55,544,969 L275Q possibly damaging Het
Itgb2 T C 10: 77,557,406 V367A probably damaging Het
Myh6 A G 14: 54,946,993 M1627T probably benign Het
Naprt A G 15: 75,893,315 Y187H probably damaging Het
Nedd4 T A 9: 72,735,089 V550E probably damaging Het
Nt5c2 A G 19: 46,896,515 V252A possibly damaging Het
Olfr1089 T C 2: 86,733,235 I126V possibly damaging Het
Olfr1504 C T 19: 13,887,581 V210I probably benign Het
P2ry2 A G 7: 100,998,186 V304A probably damaging Het
Pde4dip T C 3: 97,767,277 N108D probably benign Het
Pdgfrl A G 8: 40,985,623 T199A probably damaging Het
Plaa A G 4: 94,582,607 Y431H probably benign Het
Pls1 A T 9: 95,782,419 I177N possibly damaging Het
Plxna2 T C 1: 194,789,830 F1035L probably damaging Het
Ppp6r3 A T 19: 3,514,729 probably null Het
Prpf4b T C 13: 34,883,907 S240P probably benign Het
Reg2 T A 6: 78,406,221 Y50* probably null Het
Rev3l C T 10: 39,806,969 T361I probably benign Het
Rps4l A G 6: 148,354,885 probably benign Het
Scn11a A T 9: 119,769,916 F1183I probably damaging Het
Sh2b2 T C 5: 136,224,419 E327G probably damaging Het
Shank2 A G 7: 144,411,847 K1057R probably damaging Het
Sim2 T A 16: 94,114,944 Y255* probably null Het
Snx9 A G 17: 5,899,361 N112S probably benign Het
Sphkap T A 1: 83,280,516 I169F probably damaging Het
Spink5 A G 18: 43,967,044 T43A probably benign Het
Stac2 C T 11: 98,041,179 S265N probably benign Het
Tbx20 A G 9: 24,758,748 V91A probably damaging Het
Tgfbr2 C T 9: 116,110,189 R190H probably damaging Het
Ubr2 A G 17: 46,990,990 probably null Het
Wdfy3 C T 5: 101,915,338 probably null Het
Wdr82 T C 9: 106,184,250 V166A probably benign Het
Zfhx4 C T 3: 5,242,341 A209V probably damaging Het
Zfp518b T A 5: 38,673,766 T299S possibly damaging Het
Other mutations in Katna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Katna1 APN 10 7762804 missense probably damaging 1.00
IGL01385:Katna1 APN 10 7752810 missense probably damaging 1.00
IGL01592:Katna1 APN 10 7741454 missense probably damaging 1.00
P0018:Katna1 UTSW 10 7741459 missense probably damaging 1.00
R0310:Katna1 UTSW 10 7743749 intron probably benign
R2078:Katna1 UTSW 10 7743569 missense probably benign 0.00
R2975:Katna1 UTSW 10 7743709 missense probably benign 0.01
R3978:Katna1 UTSW 10 7752754 missense probably damaging 1.00
R3979:Katna1 UTSW 10 7752754 missense probably damaging 1.00
R4477:Katna1 UTSW 10 7738830 missense probably damaging 0.98
R4480:Katna1 UTSW 10 7738830 missense probably damaging 0.98
R5796:Katna1 UTSW 10 7760811 missense probably damaging 0.98
R7938:Katna1 UTSW 10 7761311 missense probably benign 0.00
R7965:Katna1 UTSW 10 7738859 missense probably benign
R8275:Katna1 UTSW 10 7752810 missense probably damaging 0.97
R8784:Katna1 UTSW 10 7738815 missense possibly damaging 0.68
R8842:Katna1 UTSW 10 7738836 missense probably benign
R9018:Katna1 UTSW 10 7761276 missense probably damaging 1.00
R9784:Katna1 UTSW 10 7762826 missense probably null 0.01
Z1176:Katna1 UTSW 10 7759785 missense probably damaging 1.00
Posted On 2013-04-17