Incidental Mutation 'IGL02343:Stk40'
ID289184
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk40
Ensembl Gene ENSMUSG00000042608
Gene Nameserine/threonine kinase 40
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02343
Quality Score
Status
Chromosome4
Chromosomal Location126103957-126141029 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 126136902 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 305 (Y305C)
Ref Sequence ENSEMBL: ENSMUSP00000111990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094761] [ENSMUST00000116286]
Predicted Effect probably damaging
Transcript: ENSMUST00000094761
AA Change: Y291C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608
AA Change: Y291C

DomainStartEndE-ValueType
Pfam:Pkinase 36 328 5.6e-39 PFAM
Pfam:Pkinase_Tyr 36 328 2.4e-20 PFAM
Pfam:Kinase-like 116 318 2e-8 PFAM
low complexity region 350 362 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116286
AA Change: Y305C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608
AA Change: Y305C

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 51 342 1.9e-19 PFAM
Pfam:Pkinase 52 342 9.2e-37 PFAM
Pfam:Kinase-like 130 332 1.7e-8 PFAM
low complexity region 364 376 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134369
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete neonatal lethality associated with cyanosis, atelectasis, respiratory distress and impaired lung maturation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik C A 5: 90,579,614 H364N probably damaging Het
Acbd5 T A 2: 23,087,495 N168K possibly damaging Het
Aig1 T C 10: 13,868,674 M29V probably damaging Het
Apba2 A G 7: 64,695,146 E28G probably damaging Het
Bglap3 T C 3: 88,369,116 N45S possibly damaging Het
Cables2 A G 2: 180,260,279 probably null Het
Cd109 A G 9: 78,688,955 probably benign Het
Cdk1 T C 10: 69,340,501 N259D probably benign Het
Ces1h A G 8: 93,352,026 *563R probably null Het
Cfap46 C T 7: 139,682,509 A115T probably damaging Het
Cry2 A T 2: 92,426,921 V101E possibly damaging Het
Cyp4a31 A G 4: 115,563,829 Y38C probably damaging Het
Dip2a T C 10: 76,319,478 Y130C probably benign Het
Eps8l1 A G 7: 4,472,124 T366A probably benign Het
Esr2 C T 12: 76,145,345 R303H probably benign Het
Fbxo41 T G 6: 85,478,171 L617F possibly damaging Het
Fbxw15 A T 9: 109,552,655 probably benign Het
Lrriq1 T A 10: 103,234,163 probably benign Het
Me1 A T 9: 86,654,641 probably null Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Muc19 T G 15: 91,894,234 noncoding transcript Het
Myo15b A G 11: 115,873,400 probably benign Het
Nav1 A T 1: 135,454,752 L1264* probably null Het
Nhlrc4 T C 17: 25,943,361 *137W probably null Het
Nrxn3 A G 12: 88,795,353 T57A probably damaging Het
Olfr1512 T A 14: 52,372,477 D192V probably damaging Het
Orc2 A T 1: 58,469,666 probably null Het
Rpap2 G A 5: 107,618,181 probably null Het
S100a9 T C 3: 90,695,224 H21R probably damaging Het
Spz1 T A 13: 92,575,546 M141L probably benign Het
Stra6l A G 4: 45,869,588 Q218R probably damaging Het
T C A 17: 8,439,900 probably benign Het
Tep1 T C 14: 50,829,247 D2298G probably damaging Het
Trim40 A T 17: 36,889,138 L16Q probably benign Het
Tubb4a T C 17: 57,081,538 I163V probably benign Het
Vwc2 T A 11: 11,116,532 C207S probably damaging Het
Zfp407 A G 18: 84,209,724 I1920T possibly damaging Het
Zfp429 T C 13: 67,390,725 E200G probably damaging Het
Zfp451 C T 1: 33,776,493 C792Y probably damaging Het
Other mutations in Stk40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03081:Stk40 APN 4 126123714 critical splice acceptor site probably null
IGL03273:Stk40 APN 4 126123806 missense possibly damaging 0.94
R0562:Stk40 UTSW 4 126138801 splice site probably benign
R0639:Stk40 UTSW 4 126118332 nonsense probably null
R1432:Stk40 UTSW 4 126136833 missense probably damaging 1.00
R1888:Stk40 UTSW 4 126125745 missense probably damaging 1.00
R1888:Stk40 UTSW 4 126125745 missense probably damaging 1.00
R2119:Stk40 UTSW 4 126128847 missense probably benign 0.00
R2120:Stk40 UTSW 4 126128847 missense probably benign 0.00
R2122:Stk40 UTSW 4 126128847 missense probably benign 0.00
R4498:Stk40 UTSW 4 126129751 critical splice donor site probably null
R5555:Stk40 UTSW 4 126135059 missense probably damaging 0.98
R5964:Stk40 UTSW 4 126128895 missense probably damaging 0.99
R6868:Stk40 UTSW 4 126123814 missense probably damaging 0.99
R6902:Stk40 UTSW 4 126137812 missense probably benign 0.03
R7207:Stk40 UTSW 4 126125754 missense probably damaging 1.00
R7227:Stk40 UTSW 4 126123766 missense probably benign 0.01
R7304:Stk40 UTSW 4 126125690 missense probably benign 0.02
R7996:Stk40 UTSW 4 126136874 missense probably damaging 1.00
Posted On2015-04-16