Incidental Mutation 'IGL00976:Katnal2'
ID29458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katnal2
Ensembl Gene ENSMUSG00000025420
Gene Namekatanin p60 subunit A-like 2
Synonyms4933439B08Rik, 3110023G01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00976
Quality Score
Status
Chromosome18
Chromosomal Location76977148-77047308 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 77017493 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 86 (Y86C)
Ref Sequence ENSEMBL: ENSMUSP00000119066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000122984] [ENSMUST00000123650] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000137354] [ENSMUST00000137498] [ENSMUST00000154665]
Predicted Effect probably damaging
Transcript: ENSMUST00000026486
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026486
Gene: ENSMUSG00000025420
AA Change: Y86C

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 damaging
Transcript: ENSMUST00000126153
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000122079
Gene: ENSMUSG00000025420
AA Change: Y86C

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
AAA 287 425 1.74e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000135029
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420
AA Change: Y86C

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 damaging
Transcript: ENSMUST00000137498
AA Change: Y44C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420
AA Change: Y44C

DomainStartEndE-ValueType
AAA 243 381 1.74e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154665
AA Change: Y86C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119066
Gene: ENSMUSG00000025420
AA Change: Y86C

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519F16Rik A G X: 103,183,262 probably benign Het
Aldob C A 4: 49,541,220 V151L probably damaging Het
Cacna1i G A 15: 80,355,645 M298I probably benign Het
Capn3 A G 2: 120,491,901 N414S possibly damaging Het
Ccdc186 G A 19: 56,797,500 T701M probably damaging Het
Ccdc190 A T 1: 169,933,740 H137L probably benign Het
Clhc1 G A 11: 29,561,389 D278N probably benign Het
Cntnap3 T C 13: 64,794,352 Y188C probably damaging Het
Dnah1 A C 14: 31,278,138 V2466G probably damaging Het
Dnah8 A G 17: 30,851,710 T4457A probably damaging Het
Gm13078 T A 4: 143,727,015 M231K probably damaging Het
Hectd4 A G 5: 121,349,106 Q3388R probably benign Het
Hecw1 T A 13: 14,318,972 D316V probably damaging Het
Il1rap T C 16: 26,698,839 V263A probably benign Het
Il6 G A 5: 30,014,841 G72S probably benign Het
Kdm7a G T 6: 39,144,398 S874R possibly damaging Het
Mybpc2 T C 7: 44,522,317 probably null Het
Nphs1 T G 7: 30,460,685 S130A possibly damaging Het
Ntrk3 C T 7: 78,450,953 V444I probably benign Het
Numbl T C 7: 27,268,810 V144A possibly damaging Het
Olfr952 T A 9: 39,426,657 Y138F probably benign Het
P2rx1 T C 11: 73,013,000 probably null Het
Pcdhb3 G A 18: 37,302,948 V656I probably benign Het
Pole A G 5: 110,323,572 Y1394C probably benign Het
Rbm47 A G 5: 66,026,738 V174A possibly damaging Het
Rhox4f T C X: 37,604,395 probably benign Het
Serpina12 T C 12: 104,032,528 Y317C probably damaging Het
Slc12a5 T A 2: 164,979,304 I236N probably damaging Het
Slc4a4 G A 5: 88,954,798 G32R probably damaging Het
Slco1a4 T C 6: 141,807,182 probably null Het
Sorcs3 A T 19: 48,767,103 N894I probably damaging Het
Stk38l A G 6: 146,775,402 E393G probably benign Het
Synpo A G 18: 60,603,419 I485T possibly damaging Het
Tenm3 T A 8: 48,256,841 M1687L probably benign Het
Ttc39c T C 18: 12,684,895 probably benign Het
Unc13d T C 11: 116,070,467 E378G probably damaging Het
Vmn2r118 T A 17: 55,593,204 N567Y probably damaging Het
Other mutations in Katnal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Katnal2 APN 18 77002754 missense probably damaging 1.00
IGL01012:Katnal2 APN 18 77017554 missense probably damaging 0.96
IGL01302:Katnal2 APN 18 77047167 splice site probably benign
IGL01377:Katnal2 APN 18 77002457 missense probably damaging 1.00
IGL01532:Katnal2 APN 18 77012000 missense probably benign
IGL03203:Katnal2 APN 18 77007524 missense probably damaging 1.00
R0592:Katnal2 UTSW 18 77002560 splice site probably null
R1348:Katnal2 UTSW 18 76978542 splice site probably null
R1419:Katnal2 UTSW 18 76977432 missense possibly damaging 0.85
R1755:Katnal2 UTSW 18 77012067 missense probably benign 0.01
R1772:Katnal2 UTSW 18 77002537 missense probably damaging 1.00
R1852:Katnal2 UTSW 18 77016023 missense probably benign 0.08
R1952:Katnal2 UTSW 18 76980011 missense probably benign 0.00
R2115:Katnal2 UTSW 18 76980091 missense probably damaging 1.00
R2155:Katnal2 UTSW 18 77010941 missense probably benign 0.01
R4765:Katnal2 UTSW 18 76977543 intron probably null
R5126:Katnal2 UTSW 18 77017598 missense probably benign 0.13
R5141:Katnal2 UTSW 18 76997641 missense probably damaging 1.00
R5315:Katnal2 UTSW 18 77012009 missense probably benign 0.02
R5358:Katnal2 UTSW 18 77017494 missense possibly damaging 0.47
R5412:Katnal2 UTSW 18 77002435 missense probably damaging 1.00
R6289:Katnal2 UTSW 18 77017455 unclassified probably null
R6647:Katnal2 UTSW 18 76980037 missense probably benign 0.01
R6919:Katnal2 UTSW 18 77011038 missense probably benign 0.05
R7039:Katnal2 UTSW 18 77047172 critical splice donor site probably null
R7285:Katnal2 UTSW 18 76993575 missense probably benign 0.20
Z1176:Katnal2 UTSW 18 77012057 missense probably benign
Posted On2013-04-17