Incidental Mutation 'IGL01457:Katnal1'
ID84855
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Katnal1
Ensembl Gene ENSMUSG00000041298
Gene Namekatanin p60 subunit A-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.234) question?
Stock #IGL01457
Quality Score
Status
Chromosome5
Chromosomal Location148871584-148929320 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 148893797 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120502 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047257] [ENSMUST00000110509] [ENSMUST00000147473]
Predicted Effect probably benign
Transcript: ENSMUST00000047257
SMART Domains Protein: ENSMUSP00000043210
Gene: ENSMUSG00000041298

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-19 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
AAA 238 380 3.01e-20 SMART
Pfam:Vps4_C 437 486 2.1e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000110508
Predicted Effect probably benign
Transcript: ENSMUST00000110509
SMART Domains Protein: ENSMUSP00000106136
Gene: ENSMUSG00000041298

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 3e-20 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Blast:AAA 159 229 8e-7 BLAST
PDB:4L16|A 184 234 3e-8 PDB
SCOP:d1iqpa2 185 234 4e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147473
SMART Domains Protein: ENSMUSP00000120502
Gene: ENSMUSG00000106892

DomainStartEndE-ValueType
PDB:2RPA|A 1 72 1e-20 PDB
low complexity region 100 111 N/A INTRINSIC
low complexity region 127 138 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU induced mutation display male infertility with decreased testis weight and premature exfoliation of spermatids from the seminiferous epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3425401B19Rik T A 14: 32,660,951 Y1019F probably benign Het
4930455H04Rik T G 3: 116,968,551 probably benign Het
4930548H24Rik A T 5: 31,487,427 I175L probably benign Het
4932415D10Rik C A 10: 82,284,734 K4147N probably damaging Het
9830107B12Rik A T 17: 48,128,583 probably benign Het
Abcc8 A G 7: 46,135,493 V737A possibly damaging Het
Adamts20 T A 15: 94,331,448 Y930F probably damaging Het
Alkbh8 T A 9: 3,369,825 F365I probably damaging Het
App G A 16: 85,103,239 H108Y probably damaging Het
Bfsp1 T C 2: 143,827,644 probably benign Het
Cabin1 T C 10: 75,742,429 N478S probably damaging Het
Camsap3 G A 8: 3,604,795 V796I probably damaging Het
Carns1 A T 19: 4,166,499 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Cltc C T 11: 86,702,248 M1600I probably benign Het
Cnot1 T A 8: 95,741,009 N1499Y probably damaging Het
Crebbp T A 16: 4,124,768 I196L probably damaging Het
Drc3 C A 11: 60,358,649 probably benign Het
Fam161a T A 11: 23,020,702 Y234* probably null Het
Il1r1 C A 1: 40,313,170 P500Q probably damaging Het
Klhdc2 A G 12: 69,297,053 N20S probably benign Het
Kmt2e A T 5: 23,502,019 T1527S possibly damaging Het
Magi1 C T 6: 93,747,224 G270D probably damaging Het
Mdn1 T A 4: 32,715,922 S2035T possibly damaging Het
Mki67 A T 7: 135,699,546 M1253K probably benign Het
Myh7 T C 14: 54,988,879 M435V possibly damaging Het
Myh8 A G 11: 67,292,679 I739V probably benign Het
Npnt T C 3: 132,885,982 K430R probably damaging Het
Nrd1 A G 4: 109,047,660 N696S probably benign Het
Oit3 T C 10: 59,425,484 probably benign Het
Olfr1350 A G 7: 6,570,212 T74A probably benign Het
Olfr478 A T 7: 108,032,121 I74K possibly damaging Het
Olfr571 A G 7: 102,909,719 I40T possibly damaging Het
Olfr642 A G 7: 104,050,169 Y62H probably damaging Het
Pkd1 G A 17: 24,594,821 probably null Het
Plat A G 8: 22,776,828 M279V probably benign Het
Prkd1 A T 12: 50,392,910 L378* probably null Het
Rasgef1a C T 6: 118,084,545 T157I probably benign Het
Rbm22 A G 18: 60,560,857 N11S probably damaging Het
Ros1 T C 10: 52,046,330 probably benign Het
Sema6d T A 2: 124,653,642 F3Y unknown Het
Sis T C 3: 72,961,021 D112G probably benign Het
Slit1 C A 19: 41,611,044 G1023C probably damaging Het
Sptb T C 12: 76,612,555 probably benign Het
Sspo T C 6: 48,498,343 I4881T probably benign Het
Supt6 C A 11: 78,221,143 D1038Y probably damaging Het
Tbc1d2b A T 9: 90,205,091 L945Q probably damaging Het
Tgfbr3 G T 5: 107,149,898 A212E probably damaging Het
Tipin A G 9: 64,304,408 T259A probably benign Het
Traip T C 9: 107,970,472 S365P probably benign Het
Tst T C 15: 78,399,767 T287A probably benign Het
Tube1 C T 10: 39,145,722 probably benign Het
Uhrf1bp1l T C 10: 89,805,762 S932P probably benign Het
Vmn1r37 T A 6: 66,731,409 N6K probably damaging Het
Vmn2r111 C A 17: 22,571,985 E111* probably null Het
Vmn2r17 C T 5: 109,453,032 T732I probably benign Het
Vmn2r69 A T 7: 85,406,628 D767E possibly damaging Het
Other mutations in Katnal1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02369:Katnal1 APN 5 148878927 missense probably benign 0.04
R0001:Katnal1 UTSW 5 148921275 missense probably damaging 0.98
R0230:Katnal1 UTSW 5 148918650 missense possibly damaging 0.60
R0308:Katnal1 UTSW 5 148878924 missense possibly damaging 0.95
R0591:Katnal1 UTSW 5 148892516 missense probably damaging 1.00
R1220:Katnal1 UTSW 5 148894251 missense probably benign 0.00
R1448:Katnal1 UTSW 5 148904676 missense probably benign 0.37
R2163:Katnal1 UTSW 5 148888936 missense probably damaging 1.00
R4791:Katnal1 UTSW 5 148904650 missense probably damaging 1.00
R5168:Katnal1 UTSW 5 148921322 missense possibly damaging 0.91
R6182:Katnal1 UTSW 5 148904597 missense possibly damaging 0.83
R6542:Katnal1 UTSW 5 148876206 missense probably benign 0.01
R6836:Katnal1 UTSW 5 148894164 missense probably damaging 1.00
R7077:Katnal1 UTSW 5 148891737 missense probably benign 0.00
R7490:Katnal1 UTSW 5 148891682 missense probably null 0.00
Posted On2013-11-11