Incidental Mutation 'IGL01532:Katnal2'
ID 89799
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katnal2
Ensembl Gene ENSMUSG00000025420
Gene Name katanin p60 subunit A-like 2
Synonyms 4933439B08Rik, 3110023G01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01532
Quality Score
Status
Chromosome 18
Chromosomal Location 77064844-77135004 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 77099696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 146 (H146R)
Ref Sequence ENSEMBL: ENSMUSP00000119066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000122984] [ENSMUST00000123650] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000154665] [ENSMUST00000137498] [ENSMUST00000137354]
AlphaFold Q9D3R6
Predicted Effect probably benign
Transcript: ENSMUST00000026486
AA Change: H146R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: H146R

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 noncoding transcript
Transcript: ENSMUST00000125744
Predicted Effect probably benign
Transcript: ENSMUST00000126153
AA Change: H146R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: H146R

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 425 1.74e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135029
AA Change: H146R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: H146R

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 372 2.95e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154665
AA Change: H146R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420
AA Change: H146R

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137498
AA Change: H104R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: H104R

DomainStartEndE-ValueType
AAA 243 381 1.74e-16 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138336
Predicted Effect probably benign
Transcript: ENSMUST00000137354
SMART Domains Protein: ENSMUSP00000118511
Gene: ENSMUSG00000025420

DomainStartEndE-ValueType
AAA 25 163 1.74e-16 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,558,349 (GRCm39) N264K probably damaging Het
Adgrl3 C T 5: 81,842,416 (GRCm39) T260I probably damaging Het
Ambra1 G T 2: 91,715,977 (GRCm39) K769N probably damaging Het
Arel1 A G 12: 84,980,936 (GRCm39) V357A possibly damaging Het
Atp11b T A 3: 35,903,651 (GRCm39) C76* probably null Het
AW112010 C A 19: 11,025,433 (GRCm39) noncoding transcript Het
Bfar A T 16: 13,505,251 (GRCm39) probably benign Het
Ccdc70 T G 8: 22,463,299 (GRCm39) L30V probably damaging Het
Cep20 A G 16: 14,122,375 (GRCm39) S130P probably benign Het
Chrm5 C T 2: 112,309,577 (GRCm39) R513Q probably benign Het
Crem G A 18: 3,276,732 (GRCm39) T7I probably benign Het
Cyp4f39 C T 17: 32,689,928 (GRCm39) probably benign Het
Dlg5 T C 14: 24,208,660 (GRCm39) T849A probably benign Het
Dock8 G T 19: 25,146,805 (GRCm39) G1428V probably damaging Het
Eomes T C 9: 118,311,317 (GRCm39) I380T probably damaging Het
Fam13a T C 6: 58,917,280 (GRCm39) D532G probably damaging Het
Gm10061 G T 16: 88,948,190 (GRCm39) *55L probably null Het
Gm27438 T G 2: 87,083,269 (GRCm39) probably benign Het
Gpalpp1 T C 14: 76,339,942 (GRCm39) K124E probably benign Het
Hgs T A 11: 120,368,335 (GRCm39) probably null Het
Hpn T A 7: 30,802,938 (GRCm39) M121L possibly damaging Het
Il1r1 T C 1: 40,334,088 (GRCm39) probably null Het
Jag2 A T 12: 112,877,983 (GRCm39) C583S probably damaging Het
Ldah T C 12: 8,270,596 (GRCm39) probably benign Het
Lvrn T A 18: 47,033,551 (GRCm39) Y921N probably damaging Het
Muc5b A G 7: 141,423,743 (GRCm39) Y4572C possibly damaging Het
Myo16 A G 8: 10,450,551 (GRCm39) S518G probably benign Het
Ncf1 T C 5: 134,255,447 (GRCm39) N148S probably benign Het
Nes T G 3: 87,885,654 (GRCm39) D1260E possibly damaging Het
Nup210 C A 6: 91,062,981 (GRCm39) probably benign Het
Or52b4i T C 7: 102,191,863 (GRCm39) L240P probably damaging Het
Rnf31 C A 14: 55,840,080 (GRCm39) Q968K probably damaging Het
Ros1 A G 10: 51,967,034 (GRCm39) probably benign Het
Ryk T C 9: 102,774,465 (GRCm39) Y400H probably benign Het
Slc4a5 T A 6: 83,250,022 (GRCm39) probably null Het
Sptssb A G 3: 69,728,202 (GRCm39) probably benign Het
Sstr5 T C 17: 25,710,305 (GRCm39) D308G probably damaging Het
Taf2 A G 15: 54,912,882 (GRCm39) W493R possibly damaging Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vti1b A C 12: 79,211,912 (GRCm39) L1W probably null Het
Wdr1 T C 5: 38,692,530 (GRCm39) Y125C probably 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
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
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
Posted On 2013-12-03