Incidental Mutation 'IGL02552:Stk38l'
ID298161
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: 0.566) question?
Stock #IGL02552
Quality Score
Status
Chromosome6
Chromosomal Location146724995-146778812 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 146767533 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 170 (L170F)
Ref Sequence ENSEMBL: ENSMUSP00000107271 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001675] [ENSMUST00000111644]
Predicted Effect probably damaging
Transcript: ENSMUST00000001675
AA Change: L170F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001675
Gene: ENSMUSG00000001630
AA Change: L170F

DomainStartEndE-ValueType
S_TKc 90 383 5.62e-100 SMART
S_TK_X 384 445 2.88e-2 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000111644
AA Change: L170F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107271
Gene: ENSMUSG00000001630
AA Change: L170F

DomainStartEndE-ValueType
S_TKc 90 383 5.62e-100 SMART
S_TK_X 384 452 3.66e-1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203084
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A G 3: 124,414,496 L178S probably damaging Het
2010005H15Rik A G 16: 36,253,089 E15G probably damaging Het
9130409I23Rik T A 1: 181,054,898 V75E possibly damaging Het
Abca12 A G 1: 71,294,747 Y1199H probably damaging Het
Abcc9 T C 6: 142,605,919 D1221G possibly damaging Het
Apc T A 18: 34,312,982 M977K possibly damaging Het
Arhgap30 T A 1: 171,407,756 L566Q probably damaging Het
Arhgap40 T A 2: 158,546,801 W552R probably benign Het
Astn1 C T 1: 158,505,395 S349F possibly damaging Het
Bard1 T C 1: 71,065,656 probably benign Het
Batf2 T A 19: 6,171,507 Y116N probably benign Het
Cbx6 T C 15: 79,828,893 H111R probably damaging Het
Cd44 T A 2: 102,848,731 N242I probably benign Het
Cdnf C T 2: 3,523,975 Q184* probably null Het
Chd2 C A 7: 73,447,320 probably benign Het
Cmtm6 G A 9: 114,737,306 V88M probably damaging Het
Col24a1 C A 3: 145,474,207 S1151R possibly damaging Het
Dnajc2 T C 5: 21,783,063 D6G probably damaging Het
Eif3a G A 19: 60,763,226 probably benign Het
Fbn1 C A 2: 125,412,713 C210F possibly damaging Het
Fmn2 T A 1: 174,695,720 D1380E probably damaging Het
Fry A T 5: 150,380,910 K588N probably damaging Het
Gm18856 G A 13: 13,965,220 probably benign Het
Gpr37 G T 6: 25,688,687 T137K probably benign Het
Gzmc T C 14: 56,234,582 M1V probably null Het
Htr5a T C 5: 27,842,960 V171A probably benign Het
Ints6l T C X: 56,455,197 probably benign Het
Kcnma1 C T 14: 23,386,259 probably null Het
Krt35 C T 11: 100,093,073 G367D probably benign Het
Nlrp1b C T 11: 71,182,052 V322I possibly damaging Het
Nlrp1b C T 11: 71,172,231 V668I possibly damaging Het
Ntf3 T C 6: 126,101,860 N228D probably damaging Het
Nup133 G A 8: 123,929,255 R496W possibly damaging Het
Olfr1258 T C 2: 89,930,559 V250A probably benign Het
Olfr640 C A 7: 104,022,256 G21W probably damaging Het
Pah C T 10: 87,578,845 probably benign Het
Pan2 G T 10: 128,319,027 W1112L probably damaging Het
Pkn3 G A 2: 30,080,867 R209Q probably damaging Het
Plaa C T 4: 94,582,480 probably null Het
Qprt C T 7: 127,108,855 A135T probably damaging Het
Rbbp6 T G 7: 122,982,981 S108A probably damaging Het
Smg1 T A 7: 118,195,894 probably benign Het
Spink5 T A 18: 43,992,168 C368S possibly damaging Het
Sptan1 T A 2: 30,018,474 I1734N probably damaging Het
Tesmin C T 19: 3,402,483 probably benign Het
Tjp1 A T 7: 65,299,782 C1697* probably null Het
Tmco4 T C 4: 139,058,379 S587P probably benign Het
Tmem208 G A 8: 105,328,697 probably null Het
Trim30d T C 7: 104,472,416 Q224R probably damaging Het
Trpm7 T A 2: 126,840,779 D390V probably damaging Het
Uba7 A G 9: 107,981,390 I807V probably benign Het
Uhrf1bp1l T A 10: 89,806,743 L10* probably null Het
Utp18 C A 11: 93,868,334 C438F probably damaging Het
Vps13d T C 4: 145,173,137 K191E possibly damaging Het
Wdr27 A G 17: 14,926,191 S181P probably damaging Het
Zfp462 T C 4: 55,010,613 Y860H probably damaging Het
Other mutations in Stk38l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Stk38l APN 6 146758473 start codon destroyed probably null 0.05
IGL00976:Stk38l APN 6 146775402 missense probably benign 0.37
IGL01607:Stk38l APN 6 146771654 missense probably damaging 0.99
IGL01607:Stk38l APN 6 146772227 splice site probably benign
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
R8028:Stk38l UTSW 6 146773383 missense probably damaging 1.00
R8120:Stk38l UTSW 6 146758601 missense probably benign
R8142:Stk38l UTSW 6 146758572 missense probably benign 0.33
Posted On2015-04-16