Incidental Mutation 'IGL01302:Katnal2'
ID73302
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? Possibly non essential (E-score: 0.396) question?
Stock #IGL01302
Quality Score
Status
Chromosome18
Chromosomal Location76977148-77047308 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 77047167 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026486] [ENSMUST00000122984] [ENSMUST00000123650] [ENSMUST00000126153] [ENSMUST00000135029] [ENSMUST00000137354] [ENSMUST00000137498] [ENSMUST00000154665]
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000122984
Predicted Effect probably benign
Transcript: ENSMUST00000123650
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000135029
SMART Domains Protein: ENSMUSP00000115411
Gene: ENSMUSG00000025420

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: ENSMUST00000137498
SMART Domains Protein: ENSMUSP00000117495
Gene: ENSMUSG00000025420

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

DomainStartEndE-ValueType
LisH 25 57 8.53e-6 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,399,470 probably benign Het
Abcb5 T A 12: 118,918,200 D598V probably damaging Het
Adssl1 T C 12: 112,634,736 probably benign Het
Akap9 T A 5: 3,970,711 S1141T probably benign Het
Avil T C 10: 127,017,034 probably null Het
Avl9 C A 6: 56,725,090 H77N probably damaging Het
Cacna1e A G 1: 154,443,907 V1349A probably damaging Het
Cdc23 A C 18: 34,634,644 S483A probably benign Het
Cep192 C T 18: 67,858,903 P1951S probably benign Het
Cp A G 3: 19,966,367 T175A probably damaging Het
Dubr A C 16: 50,732,635 noncoding transcript Het
Eif4g2 G T 7: 111,074,713 Q695K possibly damaging Het
Endod1 A T 9: 14,357,239 S317T possibly damaging Het
Ep400 T C 5: 110,742,048 T450A probably benign Het
Erc1 A C 6: 119,722,303 V790G probably damaging Het
Fam222a T A 5: 114,594,453 L23Q possibly damaging Het
Fam35a C T 14: 34,259,727 V485I probably benign Het
Fancf A G 7: 51,861,287 V323A probably benign Het
Grik2 T A 10: 49,244,330 Q621L probably damaging Het
Gsk3b G T 16: 38,220,018 R319L probably benign Het
Ikzf1 A G 11: 11,768,923 Y297C probably damaging Het
Lrba G T 3: 86,295,400 C289F probably damaging Het
Mos T C 4: 3,871,815 probably benign Het
Mycn T C 12: 12,937,586 D270G possibly damaging Het
Olfr672 A T 7: 104,996,721 M61K probably damaging Het
Olfr777 T A 10: 129,268,523 I267F probably benign Het
Pclo A G 5: 14,675,999 probably benign Het
Pgm2 A G 4: 99,929,606 D14G probably damaging Het
Pramel7 T A 2: 87,491,373 D106V possibly damaging Het
Prdm9 G T 17: 15,553,346 H263N probably benign Het
Psd4 T A 2: 24,396,787 probably null Het
Ptprc G A 1: 138,099,631 T493I possibly damaging Het
Rbbp8 T A 18: 11,721,979 S420R probably benign Het
Sap30bp A G 11: 115,962,547 T219A probably damaging Het
Slc2a7 T A 4: 150,157,564 L200Q probably damaging Het
Slc38a6 T A 12: 73,288,525 probably null Het
Tatdn2 T A 6: 113,704,024 probably benign Het
Thrb A G 14: 18,011,056 probably benign Het
Timp4 T C 6: 115,246,308 Y218C possibly damaging Het
Tlr5 A G 1: 182,974,748 D525G probably benign Het
Usp32 G T 11: 84,988,482 T1467N probably benign Het
Vmn2r78 A G 7: 86,915,361 I5V unknown Het
Zbtb43 T C 2: 33,454,091 H374R probably benign Het
Zfhx4 C A 3: 5,243,568 T618K probably damaging Het
Other mutations in Katnal2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00886:Katnal2 APN 18 77002754 missense probably damaging 1.00
IGL00976:Katnal2 APN 18 77017493 missense probably damaging 1.00
IGL01012:Katnal2 APN 18 77017554 missense probably damaging 0.96
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
Posted On2013-10-07