Incidental Mutation 'IGL01385:Katna1'
ID79015
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katna1
Ensembl Gene ENSMUSG00000019794
Gene Namekatanin p60 (ATPase-containing) subunit A1
Synonyms
Accession Numbers

Ncbi RefSeq: NM_011835.2; MGI:1344353

Is this an essential gene? Probably essential (E-score: 0.778) question?
Stock #IGL01385
Quality Score
Status
Chromosome10
Chromosomal Location7726000-7763150 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 7752810 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 268 (C268R)
Ref Sequence ENSEMBL: ENSMUSP00000132514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019929] [ENSMUST00000165806] [ENSMUST00000173400]
Predicted Effect probably damaging
Transcript: ENSMUST00000019929
AA Change: C266R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: C266R

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 damaging
Transcript: ENSMUST00000165806
AA Change: C268R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: C268R

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: ENSMUST00000173400
SMART Domains Protein: ENSMUSP00000133588
Gene: ENSMUSG00000019794

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-47 PDB
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016C15Rik G A 1: 177,741,074 G46R probably benign Het
Ablim1 A T 19: 57,068,914 S292R probably damaging Het
Adamts19 A G 18: 58,972,779 T749A probably damaging Het
Agap2 A T 10: 127,087,996 I747F unknown Het
Arhgap35 T A 7: 16,564,474 N222I probably damaging Het
Atp10b A G 11: 43,234,429 E1074G probably damaging Het
Brd3 T C 2: 27,464,089 T4A possibly damaging Het
Col6a6 A G 9: 105,783,666 S415P probably damaging Het
Dennd2a A G 6: 39,523,136 V165A probably damaging Het
Dnm1l T A 16: 16,341,453 E95V probably damaging Het
Dock9 A G 14: 121,580,583 Y1609H possibly damaging Het
Esm1 A C 13: 113,216,682 E166A possibly damaging Het
F2rl2 A C 13: 95,701,328 I294L probably benign Het
Gstt3 A G 10: 75,774,988 S187P probably benign Het
Mbd5 T A 2: 49,250,221 C66S possibly damaging Het
Naa35 G A 13: 59,601,066 E167K probably damaging Het
Olfr1330 T C 4: 118,893,551 L156S probably benign Het
Osbpl2 A G 2: 180,137,080 N2S probably benign Het
Parp6 T C 9: 59,630,612 probably benign Het
Pcdhb5 T A 18: 37,322,214 V549E probably benign Het
Pcnx4 T C 12: 72,573,746 L780P probably damaging Het
Plcb3 A T 19: 6,957,908 D851E probably benign Het
Ppfia2 A G 10: 106,913,699 S1149G probably damaging Het
Prkca A G 11: 107,978,352 V469A probably damaging Het
Ryr1 A T 7: 29,056,985 V3468D probably damaging Het
Stxbp4 A G 11: 90,540,248 V412A possibly damaging Het
Vmn1r238 G T 18: 3,122,770 Q215K possibly damaging Het
Wdr11 A G 7: 129,607,913 M482V probably benign Het
Wdr72 T C 9: 74,179,506 probably benign Het
Xirp2 T C 2: 67,509,677 L754P probably damaging Het
Zmym6 G A 4: 127,124,106 G1135S probably benign Het
Other mutations in Katna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Katna1 APN 10 7762804 missense probably damaging 1.00
IGL00332:Katna1 APN 10 7762994 utr 3 prime probably benign
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
Posted On2013-11-05