Incidental Mutation 'R8842:Katna1'
ID 674482
Institutional Source Beutler Lab
Gene Symbol Katna1
Ensembl Gene ENSMUSG00000019794
Gene Name katanin p60 (ATPase-containing) subunit A1
Synonyms
MMRRC Submission 068669-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.848) question?
Stock # R8842 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 7601764-7638914 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 7614600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 36 (D36G)
Ref Sequence ENSEMBL: ENSMUSP00000132514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019929] [ENSMUST00000165806] [ENSMUST00000173400]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000019929
AA Change: D34G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000019929
Gene: ENSMUSG00000019794
AA Change: D34G

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: ENSMUST00000165806
AA Change: D36G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132514
Gene: ENSMUSG00000019794
AA Change: D36G

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 probably damaging
Transcript: ENSMUST00000173400
AA Change: D34G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000133588
Gene: ENSMUSG00000019794
AA Change: D34G

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-47 PDB
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.1%
Validation Efficiency 100% (50/50)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap17 G A 7: 122,893,750 (GRCm39) P557S probably benign Het
Atad5 G T 11: 80,000,910 (GRCm39) D1014Y possibly damaging Het
Bmp6 T A 13: 38,530,359 (GRCm39) S151T probably benign Het
Bmp6 C T 13: 38,682,795 (GRCm39) Q459* probably null Het
Ccdc39 A G 3: 33,880,612 (GRCm39) Y452H probably damaging Het
Cenpj A G 14: 56,780,329 (GRCm39) Y961H probably damaging Het
Col6a6 A T 9: 105,655,166 (GRCm39) Y852N probably damaging Het
Cpne8 A G 15: 90,456,218 (GRCm39) I156T probably benign Het
Cul1 T A 6: 47,492,010 (GRCm39) L430Q probably damaging Het
Dhx30 A G 9: 109,914,296 (GRCm39) S1031P probably benign Het
Dhx9 A T 1: 153,338,335 (GRCm39) F774I possibly damaging Het
Fezf2 A C 14: 12,345,079 (GRCm38) M36R probably damaging Het
Gbp2b A T 3: 142,312,576 (GRCm39) I320L probably benign Het
Gemin6 T A 17: 80,533,115 (GRCm39) V16D possibly damaging Het
Gpr158 T A 2: 21,581,751 (GRCm39) V410D possibly damaging Het
H2-DMb2 C T 17: 34,366,904 (GRCm39) T112M probably damaging Het
Hecw2 T C 1: 53,990,033 (GRCm39) T114A Het
Herc2 G T 7: 55,738,059 (GRCm39) R234L probably damaging Het
Igsf11 A G 16: 38,829,243 (GRCm39) I46V probably benign Het
Izumo1r C T 9: 14,813,705 (GRCm39) G38S possibly damaging Het
Kdm1b G T 13: 47,231,832 (GRCm39) R697L probably damaging Het
Kif1b T A 4: 149,338,196 (GRCm39) I483F probably damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrp1b G A 2: 41,158,417 (GRCm39) T1714I Het
Man2a2 A G 7: 80,003,067 (GRCm39) L1014P probably damaging Het
Marf1 T C 16: 13,935,169 (GRCm39) E1533G probably damaging Het
Mfsd2a A T 4: 122,845,623 (GRCm39) I176N probably damaging Het
Mterf1b T A 5: 4,246,961 (GRCm39) F201I possibly damaging Het
Neurod2 T C 11: 98,218,507 (GRCm39) E219G probably damaging Het
Nln T C 13: 104,209,486 (GRCm39) E29G probably benign Het
Obscn G A 11: 58,892,861 (GRCm39) T6795M possibly damaging Het
Or1e1c G T 11: 73,266,186 (GRCm39) V207F probably benign Het
Or1i2 A G 10: 78,447,635 (GRCm39) V280A possibly damaging Het
Or1n1 C A 2: 36,749,539 (GRCm39) A274S probably benign Het
Or4c118 C T 2: 88,975,074 (GRCm39) V98I probably benign Het
Otog A T 7: 45,895,948 (GRCm39) I138F probably damaging Het
Pdcd2l G A 7: 33,884,192 (GRCm39) Q337* probably null Het
Ptprk A T 10: 28,442,497 (GRCm39) N859I probably damaging Het
Pygl G T 12: 70,274,368 (GRCm39) probably benign Het
Sema4d C T 13: 51,863,018 (GRCm39) A447T probably benign Het
Slc27a6 A T 18: 58,712,888 (GRCm39) S237C probably benign Het
Smarcc1 G A 9: 110,051,199 (GRCm39) M1006I possibly damaging Het
Sult2a2 G T 7: 13,472,192 (GRCm39) G130C probably damaging Het
Trpm7 T A 2: 126,663,131 (GRCm39) H1039L probably benign Het
Wdr64 T G 1: 175,599,893 (GRCm39) N573K probably benign Het
Zbtb48 T C 4: 152,104,496 (GRCm39) I611V probably benign Het
Zer1 T C 2: 30,001,062 (GRCm39) S120G possibly damaging Het
Zswim4 C T 8: 84,940,699 (GRCm39) R800Q probably damaging 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
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
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'- CACTGGTCCATTGTAAACTTCC -3'
(R):5'- CCATGTAACCAAACTATATTCTCTGAG -3'

Sequencing Primer
(F):5'- GGAGCCCTGGAAAGTATATATACG -3'
(R):5'- TGAAGCTCTATGAGTCTGAAGCC -3'
Posted On 2021-07-15