Incidental Mutation 'R9436:Katnal1'
ID 713278
Institutional Source Beutler Lab
Gene Symbol Katnal1
Ensembl Gene ENSMUSG00000041298
Gene Name katanin p60 subunit A-like 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.180) question?
Stock # R9436 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 148808394-148865978 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148815761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 392 (L392H)
Ref Sequence ENSEMBL: ENSMUSP00000043210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047257]
AlphaFold Q8K0T4
Predicted Effect probably damaging
Transcript: ENSMUST00000047257
AA Change: L392H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298
AA Change: L392H

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-19 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
AAA 238 380 3.01e-20 SMART
Pfam:Vps4_C 437 486 2.1e-10 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU induced mutation display male infertility with decreased testis weight and premature exfoliation of spermatids from the seminiferous epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf A G 19: 31,909,975 (GRCm39) T340A probably benign Het
Adamts2 G T 11: 50,694,507 (GRCm39) R1098L probably benign Het
Add1 A T 5: 34,763,273 (GRCm39) R154* probably null Het
Alpk1 A G 3: 127,478,924 (GRCm39) V41A Het
Anapc1 T C 2: 128,518,045 (GRCm39) T270A probably benign Het
Ankhd1 C A 18: 36,694,041 (GRCm39) A84D probably benign Het
Ankhd1 T A 18: 36,774,654 (GRCm39) C1412S probably benign Het
Ccdc93 C T 1: 121,369,584 (GRCm39) Q109* probably null Het
Chrm5 T C 2: 112,309,824 (GRCm39) R431G possibly damaging Het
Clxn T A 16: 14,735,541 (GRCm39) C84* probably null Het
Dnah14 A C 1: 181,508,348 (GRCm39) E1842A probably damaging Het
Dync1h1 T C 12: 110,582,975 (GRCm39) L386P probably damaging Het
Eme1 G A 11: 94,538,507 (GRCm39) Q393* probably null Het
Hinfp A T 9: 44,209,276 (GRCm39) Y308N probably damaging Het
Hnrnph3 T A 10: 62,854,627 (GRCm39) R55* probably null Het
Ifi44 T C 3: 151,454,886 (GRCm39) D113G probably benign Het
Kcnk12 C A 17: 88,104,880 (GRCm39) M1I probably null Het
Krt17 T A 11: 100,148,325 (GRCm39) D372V probably damaging Het
Mrtfb T A 16: 13,223,151 (GRCm39) Y796* probably null Het
Myo3a T A 2: 22,412,235 (GRCm39) Y751* probably null Het
Ndrg3 C A 2: 156,782,276 (GRCm39) probably null Het
Nfkbib C A 7: 28,465,800 (GRCm39) W16C probably damaging Het
Nlrp14 T C 7: 106,781,106 (GRCm39) V101A probably benign Het
Npy5r A G 8: 67,133,483 (GRCm39) S437P probably damaging Het
Or6c75 T C 10: 129,336,969 (GRCm39) F64S probably damaging Het
Pcdhga3 G A 18: 37,808,144 (GRCm39) R199H probably damaging Het
Pi4ka T A 16: 17,125,670 (GRCm39) H1155L Het
Rbp3 A G 14: 33,677,234 (GRCm39) D394G possibly damaging Het
Rnmt T A 18: 68,442,410 (GRCm39) V180E probably damaging Het
Rpl3l A T 17: 24,947,300 (GRCm39) K5* probably null Het
Rps6ka1 A T 4: 133,575,963 (GRCm39) V652E probably damaging Het
Slc7a1 A T 5: 148,270,730 (GRCm39) W579R probably damaging Het
Smr2l A G 5: 88,430,257 (GRCm39) D51G possibly damaging Het
Smyd4 T A 11: 75,293,017 (GRCm39) L649Q probably damaging Het
Snx19 A G 9: 30,374,602 (GRCm39) R954G possibly damaging Het
Sp4 T C 12: 118,202,000 (GRCm39) E744G possibly damaging Het
Spag16 C T 1: 69,892,539 (GRCm39) L107F probably damaging Het
Stk36 A G 1: 74,650,272 (GRCm39) D268G probably benign Het
Tat G T 8: 110,718,492 (GRCm39) G85W probably damaging Het
Tchp G T 5: 114,847,446 (GRCm39) E88D probably benign Het
Tmem132b A G 5: 125,775,633 (GRCm39) N369S possibly damaging Het
Tmf1 T C 6: 97,153,617 (GRCm39) D152G probably benign Het
Ttc7 T C 17: 87,600,320 (GRCm39) Y145H possibly damaging Het
Ttn T C 2: 76,772,263 (GRCm39) I2592M unknown Het
Unc80 T G 1: 66,732,964 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,002,826 (GRCm39) Y79H probably damaging Het
Whamm G T 7: 81,221,063 (GRCm39) probably benign Het
Zfp184 A G 13: 22,133,898 (GRCm39) I48M probably benign Het
Zfp974 A T 7: 27,611,094 (GRCm39) F210L probably benign Het
Other mutations in Katnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01457:Katnal1 APN 5 148,830,607 (GRCm39) splice site probably benign
IGL02369:Katnal1 APN 5 148,815,737 (GRCm39) missense probably benign 0.04
R0001:Katnal1 UTSW 5 148,858,085 (GRCm39) missense probably damaging 0.98
R0230:Katnal1 UTSW 5 148,855,460 (GRCm39) missense possibly damaging 0.60
R0308:Katnal1 UTSW 5 148,815,734 (GRCm39) missense possibly damaging 0.95
R0591:Katnal1 UTSW 5 148,829,326 (GRCm39) missense probably damaging 1.00
R1220:Katnal1 UTSW 5 148,831,061 (GRCm39) missense probably benign 0.00
R1448:Katnal1 UTSW 5 148,841,486 (GRCm39) missense probably benign 0.37
R2163:Katnal1 UTSW 5 148,825,746 (GRCm39) missense probably damaging 1.00
R4791:Katnal1 UTSW 5 148,841,460 (GRCm39) missense probably damaging 1.00
R5168:Katnal1 UTSW 5 148,858,132 (GRCm39) missense possibly damaging 0.91
R6182:Katnal1 UTSW 5 148,841,407 (GRCm39) missense possibly damaging 0.83
R6542:Katnal1 UTSW 5 148,813,016 (GRCm39) missense probably benign 0.01
R6836:Katnal1 UTSW 5 148,830,974 (GRCm39) missense probably damaging 1.00
R7077:Katnal1 UTSW 5 148,828,547 (GRCm39) missense probably benign 0.00
R7490:Katnal1 UTSW 5 148,828,492 (GRCm39) missense probably null 0.00
R9282:Katnal1 UTSW 5 148,831,021 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAACAGGGTGCTGACCTCAG -3'
(R):5'- CAGGTTTCAGAGGCCACATAC -3'

Sequencing Primer
(F):5'- CCTCAGGTTTGGGGCTAACAG -3'
(R):5'- TTTCAGAGGCCACATACAGAAG -3'
Posted On 2022-05-16