Incidental Mutation 'R5358:Katnal2'
ID 424214
Institutional Source Beutler Lab
Gene Symbol Katnal2
Ensembl Gene ENSMUSG00000025420
Gene Name katanin p60 subunit A-like 2
Synonyms 4933439B08Rik, 3110023G01Rik
MMRRC Submission 042937-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5358 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 77064844-77135004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77105190 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 86 (Y86H)
Ref Sequence ENSEMBL: ENSMUSP00000115411 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000122984] [ENSMUST00000123650] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000137354] [ENSMUST00000154665] [ENSMUST00000137498]
AlphaFold Q9D3R6
Predicted Effect probably benign
Transcript: ENSMUST00000026486
AA Change: Y86H

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: Y86H

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 400 6.46e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000122984
Predicted Effect probably benign
Transcript: ENSMUST00000123650
Predicted Effect probably benign
Transcript: ENSMUST00000126153
AA Change: Y86H

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: Y86H

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 425 1.74e-16 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000135029
AA Change: Y86H

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: Y86H

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 372 2.95e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137354
SMART Domains Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
AAA 25 163 1.74e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154665
AA Change: Y86H

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420
AA Change: Y86H

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137498
AA Change: Y44H

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: Y44H

DomainStartEndE-ValueType
AAA 243 381 1.74e-16 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,849,165 (GRCm39) V1842A probably damaging Het
Abi3 A T 11: 95,732,934 (GRCm39) F13L probably benign Het
Adgre4 A G 17: 56,125,758 (GRCm39) K538R probably benign Het
Bcas3 C T 11: 85,342,581 (GRCm39) H191Y probably benign Het
Bicdl2 A G 17: 23,886,538 (GRCm39) T376A probably benign Het
Ceacam18 C A 7: 43,286,497 (GRCm39) N123K possibly damaging Het
Celsr3 C T 9: 108,709,224 (GRCm39) R1357C possibly damaging Het
Chek2 T C 5: 110,989,148 (GRCm39) probably benign Het
Chmp7 A G 14: 69,958,684 (GRCm39) V210A probably benign Het
Chrm2 A G 6: 36,500,290 (GRCm39) K49R probably damaging Het
Ciao2b T C 8: 105,368,282 (GRCm39) N14S probably damaging Het
Daam1 T A 12: 71,999,233 (GRCm39) L623* probably null Het
Ddx31 T A 2: 28,753,782 (GRCm39) C448S probably damaging Het
Dnah7a A G 1: 53,586,331 (GRCm39) S1507P probably damaging Het
Dnah8 C A 17: 30,965,928 (GRCm39) T2420K probably damaging Het
Dyrk3 C T 1: 131,057,432 (GRCm39) R247H probably damaging Het
Exoc4 A G 6: 33,242,934 (GRCm39) E49G probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Foxj3 A G 4: 119,476,596 (GRCm39) E258G probably damaging Het
Gata4 C T 14: 63,478,075 (GRCm39) A175T probably benign Het
Helz2 C T 2: 180,877,321 (GRCm39) E1106K probably damaging Het
Hip1 G T 5: 135,465,252 (GRCm39) S385R probably benign Het
Igsf9 C T 1: 172,312,078 (GRCm39) T8I probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Kcnh6 A T 11: 105,918,417 (GRCm39) I756F possibly damaging Het
Kdm5b C T 1: 134,535,432 (GRCm39) R570* probably null Het
Kif16b T A 2: 142,582,889 (GRCm39) R545S probably damaging Het
Kif21b T A 1: 136,100,030 (GRCm39) I1528N possibly damaging Het
Kmt2a T C 9: 44,730,571 (GRCm39) probably benign Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Melk C T 4: 44,363,730 (GRCm39) T592M probably damaging Het
Mknk2 T C 10: 80,507,597 (GRCm39) T60A probably benign Het
Ncoa6 T C 2: 155,248,907 (GRCm39) K1466E probably damaging Het
Ntsr2 A C 12: 16,704,083 (GRCm39) T109P probably damaging Het
Nup214 C A 2: 31,907,158 (GRCm39) S995Y unknown Het
Or2a5 A T 6: 42,873,454 (GRCm39) Q23L probably benign Het
Pclo T A 5: 14,762,750 (GRCm39) L456* probably null Het
Pde5a A G 3: 122,541,825 (GRCm39) D105G probably damaging Het
Pik3c3 C A 18: 30,456,597 (GRCm39) P709H probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Rab3c T C 13: 110,198,497 (GRCm39) N179S possibly damaging Het
Setdb2 T A 14: 59,646,885 (GRCm39) R559S probably benign Het
Sf3b1 A G 1: 55,042,469 (GRCm39) Y474H probably benign Het
Slc6a6 G T 6: 91,712,155 (GRCm39) W228L probably benign Het
Slc8a2 T G 7: 15,891,228 (GRCm39) I750S probably damaging Het
Slco2b1 T A 7: 99,309,251 (GRCm39) I194L unknown Het
Smarcd1 C T 15: 99,601,128 (GRCm39) Q45* probably null Het
Srcap T G 7: 127,139,492 (GRCm39) L1271R probably damaging Het
Srsf12 A T 4: 33,209,330 (GRCm39) N9Y probably damaging Het
St7 T C 6: 17,819,317 (GRCm39) S74P probably damaging Het
Stxbp5l T A 16: 36,994,688 (GRCm39) E739V probably damaging Het
Sun3 T A 11: 8,981,496 (GRCm39) Q36L possibly damaging Het
Tbc1d32 T C 10: 56,047,033 (GRCm39) H545R possibly damaging Het
Tcp11 A T 17: 28,296,994 (GRCm39) C133S probably benign Het
Tm6sf2 T C 8: 70,526,939 (GRCm39) V36A possibly damaging Het
Tmem108 T C 9: 103,376,717 (GRCm39) Y244C probably damaging Het
Tra2a A T 6: 49,227,949 (GRCm39) probably benign Het
Trpm3 A T 19: 22,903,332 (GRCm39) I1031F probably damaging Het
Ttll3 A G 6: 113,378,292 (GRCm39) K381E probably benign Het
Uaca T C 9: 60,778,430 (GRCm39) V937A probably benign Het
Umod C T 7: 119,071,577 (GRCm39) G388D probably damaging Het
Vmn2r90 G A 17: 17,924,412 (GRCm39) probably null Het
Zbtb47 T A 9: 121,594,661 (GRCm39) F540Y probably damaging Het
Zfp644 G A 5: 106,783,541 (GRCm39) T1002I probably damaging Het
Zfp738 A G 13: 67,819,131 (GRCm39) Y287H probably damaging Het
Zfyve16 T C 13: 92,644,771 (GRCm39) T1144A probably benign Het
Zgrf1 T C 3: 127,361,352 (GRCm39) probably null Het
Other mutations in Katnal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Katnal2 APN 18 77,090,450 (GRCm39) missense probably damaging 1.00
IGL00976:Katnal2 APN 18 77,105,189 (GRCm39) missense probably damaging 1.00
IGL01012:Katnal2 APN 18 77,105,250 (GRCm39) missense probably damaging 0.96
IGL01302:Katnal2 APN 18 77,134,863 (GRCm39) splice site probably benign
IGL01377:Katnal2 APN 18 77,090,153 (GRCm39) missense probably damaging 1.00
IGL01532:Katnal2 APN 18 77,099,696 (GRCm39) missense probably benign
IGL03203:Katnal2 APN 18 77,095,220 (GRCm39) missense probably damaging 1.00
R0592:Katnal2 UTSW 18 77,090,256 (GRCm39) splice site probably null
R1348:Katnal2 UTSW 18 77,066,238 (GRCm39) splice site probably null
R1419:Katnal2 UTSW 18 77,065,128 (GRCm39) missense possibly damaging 0.85
R1755:Katnal2 UTSW 18 77,099,763 (GRCm39) missense probably benign 0.01
R1772:Katnal2 UTSW 18 77,090,233 (GRCm39) missense probably damaging 1.00
R1852:Katnal2 UTSW 18 77,103,719 (GRCm39) missense probably benign 0.08
R1952:Katnal2 UTSW 18 77,067,707 (GRCm39) missense probably benign 0.00
R2115:Katnal2 UTSW 18 77,067,787 (GRCm39) missense probably damaging 1.00
R2155:Katnal2 UTSW 18 77,098,637 (GRCm39) missense probably benign 0.01
R4765:Katnal2 UTSW 18 77,065,239 (GRCm39) splice site probably null
R5126:Katnal2 UTSW 18 77,105,294 (GRCm39) missense probably benign 0.13
R5141:Katnal2 UTSW 18 77,085,337 (GRCm39) missense probably damaging 1.00
R5315:Katnal2 UTSW 18 77,099,705 (GRCm39) missense probably benign 0.02
R5412:Katnal2 UTSW 18 77,090,131 (GRCm39) missense probably damaging 1.00
R6289:Katnal2 UTSW 18 77,105,151 (GRCm39) splice site probably null
R6647:Katnal2 UTSW 18 77,067,733 (GRCm39) missense probably benign 0.01
R6919:Katnal2 UTSW 18 77,098,734 (GRCm39) missense probably benign 0.05
R7039:Katnal2 UTSW 18 77,134,868 (GRCm39) critical splice donor site probably null
R7285:Katnal2 UTSW 18 77,081,271 (GRCm39) missense probably benign 0.20
Z1176:Katnal2 UTSW 18 77,099,753 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACCATGAGCCTAGGAACACG -3'
(R):5'- GATTTGCAACTCCTGTCTGC -3'

Sequencing Primer
(F):5'- AACACGGGACAGGCTGC -3'
(R):5'- TGCTTTTATTCTTTAAACCCAGACC -3'
Posted On 2016-08-04