Incidental Mutation 'R7227:Stk40'
ID562213
Institutional Source Beutler Lab
Gene Symbol Stk40
Ensembl Gene ENSMUSG00000042608
Gene Nameserine/threonine kinase 40
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7227 (G1)
Quality Score225.009
Status Validated
Chromosome4
Chromosomal Location126103957-126141029 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 126123766 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Serine at position 29 (A29S)
Ref Sequence ENSEMBL: ENSMUSP00000111990 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094761] [ENSMUST00000116286] [ENSMUST00000139188] [ENSMUST00000139524]
Predicted Effect probably benign
Transcript: ENSMUST00000094761
AA Change: A15S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000092354
Gene: ENSMUSG00000042608
AA Change: A15S

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 benign
Transcript: ENSMUST00000116286
AA Change: A29S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000111990
Gene: ENSMUSG00000042608
AA Change: A29S

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 benign
Transcript: ENSMUST00000139188
AA Change: A15S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114793
Gene: ENSMUSG00000042608
AA Change: A15S

DomainStartEndE-ValueType
low complexity region 89 102 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139524
AA Change: A29S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 97% (57/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310007B03Rik G T 1: 93,152,014 N451K probably benign Het
2310057M21Rik A T 7: 131,350,720 L344H probably damaging Het
Abcb1b T A 5: 8,825,593 S589T probably damaging Het
Acsm2 A C 7: 119,591,333 I520L probably benign Het
Ap2a2 T C 7: 141,620,871 Y544H probably damaging Het
Ascc1 T A 10: 60,007,738 Y41N probably benign Het
Bend3 T A 10: 43,511,405 L598Q probably damaging Het
Cfap74 T G 4: 155,460,948 Y1108* probably null Het
Cxcl17 C A 7: 25,402,894 R41S probably damaging Het
Cyp2c69 C A 19: 39,881,166 M136I possibly damaging Het
Dnah2 A G 11: 69,421,396 Y4370H probably damaging Het
Dzip3 T A 16: 48,951,569 Q579L probably damaging Het
Enpp3 C T 10: 24,817,844 M195I unknown Het
Esyt2 A G 12: 116,342,125 D325G probably damaging Het
Fat1 T G 8: 45,010,609 I1396S probably benign Het
Gigyf1 T A 5: 137,523,823 I661K unknown Het
Gja1 T A 10: 56,387,656 L37Q probably damaging Het
Hivep1 T C 13: 42,156,911 S876P probably benign Het
Hk3 C T 13: 55,012,240 R362H probably benign Het
Ier3ip1 T A 18: 76,939,634 M53K probably benign Het
Klhl5 T C 5: 65,141,288 S137P probably benign Het
Kremen2 G T 17: 23,744,599 Y70* probably null Het
Lag3 C T 6: 124,908,494 G308S possibly damaging Het
Map4k2 T A 19: 6,346,594 L542Q probably damaging Het
Mef2d G A 3: 88,158,207 probably null Het
Mkrn3 C A 7: 62,419,667 R125S probably benign Het
Mpp3 T A 11: 102,005,078 Y457F possibly damaging Het
Mrpl12 T A 11: 120,488,352 I175N probably damaging Het
Mybbp1a G T 11: 72,447,759 K728N possibly damaging Het
Nfkb1 C T 3: 135,626,659 V112M probably damaging Het
Nucb2 A T 7: 116,526,076 D123V probably damaging Het
Olfr527 A G 7: 140,335,621 probably benign Het
Orc3 T C 4: 34,572,542 T629A probably benign Het
Pdk1 T A 2: 71,883,901 N218K possibly damaging Het
Plce1 A G 19: 38,726,902 T1298A probably benign Het
Ppan T A 9: 20,888,200 probably benign Het
Rap1gds1 C T 3: 138,957,467 G373R probably damaging Het
Scn2a A C 2: 65,752,023 I1572L probably damaging Het
Sec16a A T 2: 26,438,923 Y1027N probably benign Het
Serpinb3a T A 1: 107,051,629 T48S probably damaging Het
Slc30a8 A G 15: 52,331,636 M264V probably benign Het
Slc44a3 A T 3: 121,510,230 C286S possibly damaging Het
Slc8a2 T C 7: 16,144,981 I464T possibly damaging Het
Smco1 T C 16: 32,274,015 M168T possibly damaging Het
Spns2 A T 11: 72,458,687 Y246* probably null Het
Ssbp2 T C 13: 91,675,125 M213T probably benign Het
Thrap3 A T 4: 126,173,503 F683I probably damaging Het
Tmc5 A G 7: 118,670,666 T880A possibly damaging Het
Trim38 T A 13: 23,785,963 N168K possibly damaging Het
Ube2d1 T A 10: 71,255,872 Y134F possibly damaging Het
Vmn1r67 T A 7: 10,447,548 Y246* probably null Het
Vmn2r18 T C 5: 151,572,799 T485A probably damaging Het
Wrn T A 8: 33,248,946 I1285F probably damaging Het
Xrcc1 C A 7: 24,547,332 H8Q probably damaging Het
Zkscan4 T C 13: 21,484,243 V317A probably benign Het
Other mutations in Stk40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02343:Stk40 APN 4 126136902 missense probably damaging 1.00
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
R7304:Stk40 UTSW 4 126125690 missense probably benign 0.02
R7996:Stk40 UTSW 4 126136874 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGACATCTGCTGTTGGTG -3'
(R):5'- CAACTTTTGCCATGGAGTGAC -3'

Sequencing Primer
(F):5'- ACTCTCAAGTCAAGGAGTTGTG -3'
(R):5'- TGGAGTGACCACAGCCCTG -3'
Posted On2019-06-26