Incidental Mutation 'IGL00976:Stk38l'
ID27706
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk38l
Ensembl Gene ENSMUSG00000001630
Gene Nameserine/threonine kinase 38 like
Synonyms4930473A22Rik, Ndr2
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.587) question?
Stock #IGL00976
Quality Score
Status
Chromosome6
Chromosomal Location146724995-146778812 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 146775402 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 393 (E393G)
Ref Sequence ENSEMBL: ENSMUSP00000107271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001675] [ENSMUST00000111644]
Predicted Effect probably benign
Transcript: ENSMUST00000001675
AA Change: E393G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: E393G

DomainStartEndE-ValueType
S_TKc 90 383 5.62e-100 SMART
S_TK_X 384 445 2.88e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111644
AA Change: E393G

PolyPhen 2 Score 0.374 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: E393G

DomainStartEndE-ValueType
S_TKc 90 383 5.62e-100 SMART
S_TK_X 384 452 3.66e-1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous gene-trapped mice exhibit premature dendritic branching of CA3 pyramidal neurons. [provided by MGI curators]
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
Katnal2 T C 18: 77,017,493 Y86C probably damaging 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
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 Stk38l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Stk38l APN 6 146758473 start codon destroyed probably null 0.05
IGL01607:Stk38l APN 6 146771654 missense probably damaging 0.99
IGL01607:Stk38l APN 6 146772227 splice site probably benign
IGL02552:Stk38l APN 6 146767533 missense probably damaging 1.00
IGL02582:Stk38l APN 6 146766823 critical splice donor site probably null
IGL03036:Stk38l APN 6 146768874 missense probably damaging 1.00
R0445:Stk38l UTSW 6 146775686 missense probably benign
R1518:Stk38l UTSW 6 146771631 missense probably benign 0.09
R2117:Stk38l UTSW 6 146768846 missense probably damaging 1.00
R5297:Stk38l UTSW 6 146775655 nonsense probably null
R5602:Stk38l UTSW 6 146758500 missense probably benign 0.39
R5652:Stk38l UTSW 6 146773328 missense possibly damaging 0.91
R6830:Stk38l UTSW 6 146766771 missense possibly damaging 0.88
R7572:Stk38l UTSW 6 146775654 missense probably damaging 1.00
Posted On2013-04-17