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
Essential gene? Probably essential (E-score: 0.868) question?
Stock # IGL00332
Quality Score
Status
Chromosome 10
Chromosomal Location 7601764-7638914 bp(+) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to C at 7638758 bp (GRCm39)
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 noncoding transcript
Transcript: ENSMUST00000174654
Predicted Effect probably benign
Transcript: ENSMUST00000174007
SMART Domains Protein: ENSMUSP00000133321
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
Pfam:AAA 1 60 1.7e-10 PFAM
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: 97,083,737 (GRCm39) Y404H possibly damaging Het
Adgrv1 T A 13: 81,620,996 (GRCm39) probably benign Het
Akap13 A G 7: 75,378,667 (GRCm39) K2107E probably damaging Het
Ankrd42 A G 7: 92,233,662 (GRCm39) probably benign Het
Apba3 C T 10: 81,108,901 (GRCm39) P555S probably damaging Het
Aplnr A G 2: 84,967,985 (GRCm39) S337G probably benign Het
Arhgef40 A G 14: 52,226,417 (GRCm39) N154D probably damaging Het
Asb14 A G 14: 26,633,998 (GRCm39) K401R probably benign Het
Aspn C A 13: 49,719,968 (GRCm39) T328K probably benign Het
Barhl2 C T 5: 106,603,365 (GRCm39) A265T possibly damaging Het
Brca2 T A 5: 150,463,363 (GRCm39) H1042Q probably benign Het
C3 A G 17: 57,533,004 (GRCm39) L167P probably benign Het
Ccdc33 A G 9: 57,977,257 (GRCm39) probably benign Het
Cdk10 T A 8: 123,957,063 (GRCm39) M222K possibly damaging Het
Cfap45 C T 1: 172,362,912 (GRCm39) probably benign Het
Chil3 T A 3: 106,056,017 (GRCm39) N352I probably damaging Het
Chn2 G T 6: 54,272,907 (GRCm39) probably null Het
Cimip2b G A 4: 43,428,158 (GRCm39) R100W possibly damaging Het
Cpt1b T C 15: 89,305,066 (GRCm39) E394G probably benign Het
Fcgr2b T A 1: 170,788,799 (GRCm39) N273I possibly damaging Het
Fpr-rs7 G A 17: 20,333,480 (GRCm39) Q337* probably null Het
Fras1 T A 5: 96,887,217 (GRCm39) N2666K possibly damaging Het
Gfra3 C T 18: 34,824,601 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr75 C T 11: 30,841,590 (GRCm39) T165I probably damaging Het
Gzmd A T 14: 56,367,737 (GRCm39) C179S probably damaging Het
Hand1 T G 11: 57,722,575 (GRCm39) H13P probably damaging Het
Irak3 C T 10: 120,013,972 (GRCm39) probably null Het
Isl2 T A 9: 55,452,253 (GRCm39) L275Q possibly damaging Het
Itgb2 T C 10: 77,393,240 (GRCm39) V367A probably damaging Het
Myh6 A G 14: 55,184,450 (GRCm39) M1627T probably benign Het
Naprt A G 15: 75,765,164 (GRCm39) Y187H probably damaging Het
Nedd4 T A 9: 72,642,371 (GRCm39) V550E probably damaging Het
Nt5c2 A G 19: 46,884,954 (GRCm39) V252A possibly damaging Het
Or8k39 T C 2: 86,563,579 (GRCm39) I126V possibly damaging Het
Or9i16 C T 19: 13,864,945 (GRCm39) V210I probably benign Het
P2ry2 A G 7: 100,647,393 (GRCm39) V304A probably damaging Het
Pde4dip T C 3: 97,674,593 (GRCm39) N108D probably benign Het
Pdgfrl A G 8: 41,438,660 (GRCm39) T199A probably damaging Het
Plaa A G 4: 94,470,844 (GRCm39) Y431H probably benign Het
Pls1 A T 9: 95,664,472 (GRCm39) I177N possibly damaging Het
Plxna2 T C 1: 194,472,138 (GRCm39) F1035L probably damaging Het
Ppp6r3 A T 19: 3,564,729 (GRCm39) probably null Het
Prpf4b T C 13: 35,067,890 (GRCm39) S240P probably benign Het
Reg2 T A 6: 78,383,204 (GRCm39) Y50* probably null Het
Rev3l C T 10: 39,682,965 (GRCm39) T361I probably benign Het
Rps4l A G 6: 148,256,383 (GRCm39) probably benign Het
Scn11a A T 9: 119,598,982 (GRCm39) F1183I probably damaging Het
Sh2b2 T C 5: 136,253,273 (GRCm39) E327G probably damaging Het
Shank2 A G 7: 143,965,584 (GRCm39) K1057R probably damaging Het
Sim2 T A 16: 93,915,803 (GRCm39) Y255* probably null Het
Snx9 A G 17: 5,949,636 (GRCm39) N112S probably benign Het
Sphkap T A 1: 83,258,237 (GRCm39) I169F probably damaging Het
Spink5 A G 18: 44,100,111 (GRCm39) T43A probably benign Het
Stac2 C T 11: 97,932,005 (GRCm39) S265N probably benign Het
Tbx20 A G 9: 24,670,044 (GRCm39) V91A probably damaging Het
Tgfbr2 C T 9: 115,939,257 (GRCm39) R190H probably damaging Het
Ubr2 A G 17: 47,301,916 (GRCm39) probably null Het
Wdfy3 C T 5: 102,063,204 (GRCm39) probably null Het
Wdr82 T C 9: 106,061,449 (GRCm39) V166A probably benign Het
Zfhx4 C T 3: 5,307,401 (GRCm39) A209V probably damaging Het
Zfp518b T A 5: 38,831,109 (GRCm39) T299S possibly damaging Het
Other mutations in Katna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Katna1 APN 10 7,638,568 (GRCm39) missense probably damaging 1.00
IGL01385:Katna1 APN 10 7,628,574 (GRCm39) missense probably damaging 1.00
IGL01592:Katna1 APN 10 7,617,218 (GRCm39) missense probably damaging 1.00
P0018:Katna1 UTSW 10 7,617,223 (GRCm39) missense probably damaging 1.00
R0310:Katna1 UTSW 10 7,619,513 (GRCm39) intron probably benign
R2078:Katna1 UTSW 10 7,619,333 (GRCm39) missense probably benign 0.00
R2975:Katna1 UTSW 10 7,619,473 (GRCm39) missense probably benign 0.01
R3978:Katna1 UTSW 10 7,628,518 (GRCm39) missense probably damaging 1.00
R3979:Katna1 UTSW 10 7,628,518 (GRCm39) missense probably damaging 1.00
R4477:Katna1 UTSW 10 7,614,594 (GRCm39) missense probably damaging 0.98
R4480:Katna1 UTSW 10 7,614,594 (GRCm39) missense probably damaging 0.98
R5796:Katna1 UTSW 10 7,636,575 (GRCm39) missense probably damaging 0.98
R7938:Katna1 UTSW 10 7,637,075 (GRCm39) missense probably benign 0.00
R7965:Katna1 UTSW 10 7,614,623 (GRCm39) missense probably benign
R8275:Katna1 UTSW 10 7,628,574 (GRCm39) missense probably damaging 0.97
R8784:Katna1 UTSW 10 7,614,579 (GRCm39) missense possibly damaging 0.68
R8842:Katna1 UTSW 10 7,614,600 (GRCm39) missense probably benign
R9018:Katna1 UTSW 10 7,637,040 (GRCm39) missense probably damaging 1.00
R9784:Katna1 UTSW 10 7,638,590 (GRCm39) missense probably null 0.01
Z1176:Katna1 UTSW 10 7,635,549 (GRCm39) missense probably damaging 1.00
Posted On 2013-04-17