Incidental Mutation 'R5796:Katna1'
ID 447241
Institutional Source Beutler Lab
Gene Symbol Katna1
Ensembl Gene ENSMUSG00000019794
Gene Name katanin p60 (ATPase-containing) subunit A1
Synonyms
MMRRC Submission 043387-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R5796 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 7601764-7638914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 7636575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 366 (D366E)
Ref Sequence ENSEMBL: ENSMUSP00000132514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019929] [ENSMUST00000165806] [ENSMUST00000173511] [ENSMUST00000174007]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000019929
AA Change: D364E

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: D364E

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: D366E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: D366E

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
AA Change: D43E

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133321
Gene: ENSMUSG00000019794
AA Change: D43E

DomainStartEndE-ValueType
Pfam:AAA 1 60 1.7e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174654
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 93% (51/55)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,215,077 (GRCm39) T9A possibly damaging Het
Abcd3 G A 3: 121,578,147 (GRCm39) R160W probably damaging Het
Ap3d1 G T 10: 80,549,871 (GRCm39) T758K possibly damaging Het
Ate1 T C 7: 130,068,998 (GRCm39) Y423C probably damaging Het
Bsn C T 9: 108,003,223 (GRCm39) G394D probably damaging Het
Cacna1d T C 14: 29,788,073 (GRCm39) D1599G probably damaging Het
Cd33 A G 7: 43,182,480 (GRCm39) probably null Het
Chct1 A G 11: 85,064,101 (GRCm39) T81A probably null Het
Col12a1 T C 9: 79,611,111 (GRCm39) N154D possibly damaging Het
Crocc TCTGAGCTGCTGAGCTGC TCTGAGCTGC 4: 140,769,118 (GRCm39) probably null Het
Cts3 A T 13: 61,716,517 (GRCm39) Y40N probably damaging Het
Cyfip2 T C 11: 46,089,823 (GRCm39) N1197D probably benign Het
Dclre1b G A 3: 103,714,773 (GRCm39) Q77* probably null Het
Dsc3 T A 18: 20,104,558 (GRCm39) M590L probably benign Het
Efcab14 A T 4: 115,603,780 (GRCm39) I153F probably damaging Het
Fbxo42 T C 4: 140,927,100 (GRCm39) V460A probably benign Het
Fgl1 T G 8: 41,652,796 (GRCm39) probably benign Het
Gbf1 T C 19: 46,272,782 (GRCm39) S1697P probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm15056 C A 8: 21,391,998 (GRCm39) probably benign Het
Gm17409 T A 2: 58,361,034 (GRCm39) probably benign Het
Gm20730 A G 6: 43,058,464 (GRCm39) L116P probably damaging Het
Grb2 T G 11: 115,536,698 (GRCm39) H184P probably benign Het
Hepacam2 G C 6: 3,466,200 (GRCm39) probably null Het
Hsd3b9 A T 3: 98,354,168 (GRCm39) D110E probably benign Het
Igkv4-55 T A 6: 69,584,432 (GRCm39) K60M possibly damaging Het
Itfg1 T A 8: 86,445,522 (GRCm39) H603L probably damaging Het
Klk1b26 A G 7: 43,665,752 (GRCm39) Y188C probably damaging Het
Ldhd T C 8: 112,353,722 (GRCm39) T464A probably benign Het
Muc5b T C 7: 141,411,133 (GRCm39) S1360P unknown Het
Nckipsd T G 9: 108,688,813 (GRCm39) V116G probably benign Het
Nhsl1 C T 10: 18,399,998 (GRCm39) S374L probably benign Het
Oxt G A 2: 130,418,533 (GRCm39) G48D probably damaging Het
Pramel21 A G 4: 143,341,778 (GRCm39) N69S probably benign Het
Ptprk C T 10: 28,259,571 (GRCm39) T337I probably damaging Het
Rad54b A T 4: 11,615,446 (GRCm39) D818V probably benign Het
Rbpjl T C 2: 164,252,168 (GRCm39) probably benign Het
Recql5 T A 11: 115,818,691 (GRCm39) probably benign Het
Robo4 A T 9: 37,322,970 (GRCm39) D830V probably benign Het
Rps6kb1 C T 11: 86,402,677 (GRCm39) G339S probably benign Het
Rtel1 G A 2: 180,982,299 (GRCm39) E350K probably benign Het
Rtn3 A G 19: 7,434,832 (GRCm39) S368P possibly damaging Het
Smad5 A G 13: 56,871,645 (GRCm39) H80R probably damaging Het
Sppl2c T A 11: 104,078,619 (GRCm39) M473K probably benign Het
Tbrg1 A G 9: 37,563,871 (GRCm39) probably benign Het
Tcf7 A G 11: 52,152,354 (GRCm39) I65T probably benign Het
Tgm2 T C 2: 157,960,824 (GRCm39) D618G probably benign Het
Tuba3b C T 6: 145,565,408 (GRCm39) T292I probably damaging Het
Vmn1r63 G A 7: 5,806,140 (GRCm39) S164L probably benign Het
Zfp382 A G 7: 29,832,774 (GRCm39) K142E probably damaging Het
Zmym3 G A X: 100,459,406 (GRCm39) P308L probably benign Het
Other mutations in Katna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Katna1 APN 10 7,638,568 (GRCm39) missense probably damaging 1.00
IGL00332:Katna1 APN 10 7,638,758 (GRCm39) utr 3 prime probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGGAAAACTGCACTGCCTTG -3'
(R):5'- CTTGGAGCAAGCACACTTATGATG -3'

Sequencing Primer
(F):5'- CTTGCATCACTGTCCGTGGG -3'
(R):5'- ATGATGTATCAAGGCTTCCAGG -3'
Posted On 2016-12-15