Incidental Mutation 'R6289:Katnal2'
ID 531261
Institutional Source Beutler Lab
Gene Symbol Katnal2
Ensembl Gene ENSMUSG00000025420
Gene Name katanin p60 subunit A-like 2
Synonyms 4933439B08Rik, 3110023G01Rik
MMRRC Submission 044459-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6289 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 77064844-77135004 bp(-) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) A to G at 77105151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000126153] [ENSMUST00000137498] [ENSMUST00000154665]
AlphaFold Q9D3R6
Predicted Effect probably null
Transcript: ENSMUST00000026486
SMART Domains Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 400 6.46e-11 SMART
Predicted Effect probably null
Transcript: ENSMUST00000126153
SMART Domains Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 425 1.74e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000137498
SMART Domains Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
AAA 243 381 1.74e-16 SMART
Predicted Effect probably null
Transcript: ENSMUST00000154665
SMART Domains Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam21 A G 12: 81,607,480 (GRCm39) V94A probably damaging Het
Ankrd36 T C 11: 5,578,837 (GRCm39) S34P probably damaging Het
Arid3c G A 4: 41,724,285 (GRCm39) probably benign Het
Atg16l1 C T 1: 87,683,937 (GRCm39) R6C probably damaging Het
Bex6 A G 16: 32,005,530 (GRCm39) I113V probably benign Het
Blk T C 14: 63,613,341 (GRCm39) probably null Het
C1s1 A G 6: 124,508,135 (GRCm39) F618S probably damaging Het
Casp8ap2 C T 4: 32,639,590 (GRCm39) H215Y probably damaging Het
Casp9 T A 4: 141,534,496 (GRCm39) V302E probably damaging Het
Ccl2 A C 11: 81,927,795 (GRCm39) K80Q probably benign Het
Cit T G 5: 116,144,385 (GRCm39) *2014E probably null Het
Dclk2 A T 3: 86,739,124 (GRCm39) S292T probably benign Het
Ddx23 T C 15: 98,547,765 (GRCm39) E463G probably benign Het
Dennd1b T C 1: 139,096,683 (GRCm39) probably benign Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fgf10 C A 13: 118,852,028 (GRCm39) Q37K probably benign Het
Fgf22 A G 10: 79,591,041 (GRCm39) D24G probably damaging Het
Gabra1 A G 11: 42,045,846 (GRCm39) I88T probably damaging Het
Grip2 A G 6: 91,755,852 (GRCm39) I586T probably benign Het
H1f5 G T 13: 21,964,609 (GRCm39) P39Q probably damaging Het
Hpse2 T A 19: 42,777,418 (GRCm39) N583Y probably null Het
Keg1 T G 19: 12,691,937 (GRCm39) C85G probably damaging Het
Kidins220 T A 12: 25,106,615 (GRCm39) L1356H probably damaging Het
Lifr A G 15: 7,196,391 (GRCm39) K192E probably benign Het
Mks1 T C 11: 87,750,485 (GRCm39) probably null Het
Or5b110-ps1 T C 19: 13,260,158 (GRCm39) K88R possibly damaging Het
Rars1 C T 11: 35,716,894 (GRCm39) M207I probably damaging Het
Rbm6 T C 9: 107,655,147 (GRCm39) Y896C probably damaging Het
Scarf1 T A 11: 75,416,242 (GRCm39) W472R possibly damaging Het
Septin8 A G 11: 53,425,305 (GRCm39) N66S probably damaging Het
Smcr8 T C 11: 60,669,424 (GRCm39) F191L probably damaging Het
Tdrd6 A G 17: 43,935,411 (GRCm39) M1879T probably benign Het
Tlr3 C T 8: 45,849,966 (GRCm39) R901Q probably benign Het
Trpc4ap T C 2: 155,505,627 (GRCm39) T203A possibly damaging Het
Tubgcp5 A G 7: 55,445,671 (GRCm39) S58G probably benign Het
Ubtd2 A G 11: 32,466,177 (GRCm39) E132G probably damaging Het
Uggt2 T A 14: 119,279,014 (GRCm39) E831V probably damaging Het
Umodl1 A G 17: 31,201,325 (GRCm39) N418S probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Wdhd1 A C 14: 47,495,953 (GRCm39) I637S possibly damaging 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
R5358:Katnal2 UTSW 18 77,105,190 (GRCm39) missense possibly damaging 0.47
R5412:Katnal2 UTSW 18 77,090,131 (GRCm39) missense probably damaging 1.00
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'- GGTCTACTCTTCCAGGCATG -3'
(R):5'- TCTCCTGTAAAACTGCCAGC -3'

Sequencing Primer
(F):5'- GAACCAATCAACCATGAGCCTAGG -3'
(R):5'- ACTGCCAGCTACATGGATG -3'
Posted On 2018-08-21