Incidental Mutation 'IGL03081:Stk40'
ID 417888
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk40
Ensembl Gene ENSMUSG00000042608
Gene Name serine/threonine kinase 40
Synonyms 2310004N11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03081
Quality Score
Status
Chromosome 4
Chromosomal Location 125997750-126034822 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 126017507 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121674 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094761] [ENSMUST00000116286] [ENSMUST00000139188] [ENSMUST00000139524]
AlphaFold Q7TNL3
Predicted Effect probably null
Transcript: ENSMUST00000094761
SMART Domains Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608

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 null
Transcript: ENSMUST00000116286
SMART Domains Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608

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 probably null
Transcript: ENSMUST00000139188
SMART Domains Protein: ENSMUSP00000114793
Gene: ENSMUSG00000042608

DomainStartEndE-ValueType
low complexity region 89 102 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000139524
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Eya1 A T 1: 14,253,415 (GRCm39) F520L possibly damaging Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably damaging Het
Other mutations in Stk40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Stk40 APN 4 126,030,695 (GRCm39) missense probably damaging 1.00
IGL03273:Stk40 APN 4 126,017,599 (GRCm39) missense possibly damaging 0.94
R0562:Stk40 UTSW 4 126,032,594 (GRCm39) splice site probably benign
R0639:Stk40 UTSW 4 126,012,125 (GRCm39) nonsense probably null
R1432:Stk40 UTSW 4 126,030,626 (GRCm39) missense probably damaging 1.00
R1888:Stk40 UTSW 4 126,019,538 (GRCm39) missense probably damaging 1.00
R1888:Stk40 UTSW 4 126,019,538 (GRCm39) missense probably damaging 1.00
R2119:Stk40 UTSW 4 126,022,640 (GRCm39) missense probably benign 0.00
R2120:Stk40 UTSW 4 126,022,640 (GRCm39) missense probably benign 0.00
R2122:Stk40 UTSW 4 126,022,640 (GRCm39) missense probably benign 0.00
R4498:Stk40 UTSW 4 126,023,544 (GRCm39) critical splice donor site probably null
R5555:Stk40 UTSW 4 126,028,852 (GRCm39) missense probably damaging 0.98
R5964:Stk40 UTSW 4 126,022,688 (GRCm39) missense probably damaging 0.99
R6868:Stk40 UTSW 4 126,017,607 (GRCm39) missense probably damaging 0.99
R6902:Stk40 UTSW 4 126,031,605 (GRCm39) missense probably benign 0.03
R7207:Stk40 UTSW 4 126,019,547 (GRCm39) missense probably damaging 1.00
R7227:Stk40 UTSW 4 126,017,559 (GRCm39) missense probably benign 0.01
R7304:Stk40 UTSW 4 126,019,483 (GRCm39) missense probably benign 0.02
R7996:Stk40 UTSW 4 126,030,667 (GRCm39) missense probably damaging 1.00
R8353:Stk40 UTSW 4 126,022,766 (GRCm39) missense probably damaging 1.00
R8444:Stk40 UTSW 4 126,012,127 (GRCm39) missense probably benign
R8453:Stk40 UTSW 4 126,022,766 (GRCm39) missense probably damaging 1.00
R9612:Stk40 UTSW 4 126,030,650 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02