Incidental Mutation 'R3750:Slk'
ID 310163
Institutional Source Beutler Lab
Gene Symbol Slk
Ensembl Gene ENSMUSG00000025060
Gene Name STE20-like kinase
Synonyms Etk4, Stk2, 9A2, SLK, mSLK
MMRRC Submission 040735-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3750 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47568458-47633685 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 47608248 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 400 (D400E)
Ref Sequence ENSEMBL: ENSMUSP00000026043 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026043] [ENSMUST00000051691]
AlphaFold O54988
Predicted Effect possibly damaging
Transcript: ENSMUST00000026043
AA Change: D400E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: D400E

DomainStartEndE-ValueType
S_TKc 34 292 3.18e-99 SMART
low complexity region 305 328 N/A INTRINSIC
low complexity region 442 452 N/A INTRINSIC
low complexity region 585 600 N/A INTRINSIC
low complexity region 690 703 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Pfam:PKK 849 928 1.2e-19 PFAM
Pfam:PKK 986 1127 7.4e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000051691
AA Change: D400E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: D400E

DomainStartEndE-ValueType
S_TKc 34 292 3.18e-99 SMART
low complexity region 305 328 N/A INTRINSIC
low complexity region 442 452 N/A INTRINSIC
low complexity region 585 600 N/A INTRINSIC
low complexity region 690 703 N/A INTRINSIC
low complexity region 783 795 N/A INTRINSIC
Pfam:PKK 850 988 1.6e-40 PFAM
Pfam:PKK 1018 1158 1.2e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136557
Meta Mutation Damage Score 0.0653 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (38/38)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trapped allele die by E14.5, exhibiting severe developmental defects, impaired neuronal and skeletal muscle development, abnormal placental differentiation and vascularization, and increased apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh C A 5: 77,036,501 (GRCm39) E347* probably null Het
Adam12 T C 7: 133,774,594 (GRCm39) D5G probably damaging Het
Adam26b A C 8: 43,974,234 (GRCm39) V256G probably benign Het
Ago1 A G 4: 126,354,837 (GRCm39) I125T probably benign Het
Bckdk C A 7: 127,504,590 (GRCm39) R105S probably damaging Het
Bub1b T A 2: 118,445,936 (GRCm39) N319K possibly damaging Het
Clcn6 G T 4: 148,108,644 (GRCm39) C128* probably null Het
Col6a4 C A 9: 105,897,864 (GRCm39) probably null Het
Cyp4v3 G A 8: 45,768,745 (GRCm39) R272* probably null Het
Dlg5 G A 14: 24,215,328 (GRCm39) A665V probably damaging Het
Foxd1 G C 13: 98,492,424 (GRCm39) A433P unknown Het
Hsd17b3 A T 13: 64,210,993 (GRCm39) probably null Het
Kcnc4 A G 3: 107,355,506 (GRCm39) V314A probably benign Het
Lrba T G 3: 86,283,260 (GRCm39) L1858R probably damaging Het
Marcks G A 10: 37,016,866 (GRCm39) probably benign Het
Mroh2b G A 15: 4,981,728 (GRCm39) W1513* probably null Het
Nefh A G 11: 4,889,937 (GRCm39) V894A probably benign Het
Pdzph1 A T 17: 59,280,331 (GRCm39) Y650* probably null Het
Plce1 A C 19: 38,766,343 (GRCm39) I2109L probably benign Het
Pramel18 T A 4: 101,767,073 (GRCm39) D107E possibly damaging Het
Primpol A T 8: 47,052,848 (GRCm39) D154E probably benign Het
Relch C T 1: 105,681,302 (GRCm39) T1178I probably damaging Het
Rtca A T 3: 116,286,650 (GRCm39) F327L probably benign Het
Scn2a T G 2: 65,544,115 (GRCm39) V832G probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Skil A G 3: 31,170,983 (GRCm39) N354S probably benign Het
Spata31 G T 13: 65,069,557 (GRCm39) L568F probably benign Het
Spon1 T C 7: 113,365,621 (GRCm39) L19P probably damaging Het
Spon1 T A 7: 113,616,024 (GRCm39) V297E possibly damaging Het
Tas2r136 A T 6: 132,754,200 (GRCm39) F309Y probably damaging Het
Tcp11l1 A G 2: 104,528,887 (GRCm39) I137T probably damaging Het
Ttn G A 2: 76,584,350 (GRCm39) H22253Y probably damaging Het
Upf1 G T 8: 70,786,000 (GRCm39) N975K possibly damaging Het
Usp1 C T 4: 98,822,357 (GRCm39) probably null Het
Zfhx4 G A 3: 5,308,225 (GRCm39) E484K possibly damaging Het
Zswim4 G A 8: 84,938,676 (GRCm39) P1069S possibly damaging Het
Other mutations in Slk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00488:Slk APN 19 47,608,148 (GRCm39) missense probably benign 0.00
IGL00515:Slk APN 19 47,630,535 (GRCm39) unclassified probably benign
IGL00755:Slk APN 19 47,597,449 (GRCm39) missense probably damaging 0.99
IGL00990:Slk APN 19 47,568,691 (GRCm39) missense probably damaging 0.98
IGL02283:Slk APN 19 47,630,432 (GRCm39) missense probably damaging 1.00
R0140:Slk UTSW 19 47,610,774 (GRCm39) missense probably damaging 1.00
R0364:Slk UTSW 19 47,608,628 (GRCm39) nonsense probably null
R0944:Slk UTSW 19 47,597,432 (GRCm39) missense probably damaging 1.00
R1756:Slk UTSW 19 47,611,116 (GRCm39) missense probably damaging 0.97
R1795:Slk UTSW 19 47,608,973 (GRCm39) missense possibly damaging 0.72
R1869:Slk UTSW 19 47,613,891 (GRCm39) missense probably damaging 1.00
R1980:Slk UTSW 19 47,600,428 (GRCm39) missense probably damaging 1.00
R2261:Slk UTSW 19 47,625,791 (GRCm39) missense probably damaging 0.99
R2278:Slk UTSW 19 47,608,188 (GRCm39) missense probably damaging 0.97
R3746:Slk UTSW 19 47,608,248 (GRCm39) missense possibly damaging 0.88
R3748:Slk UTSW 19 47,608,248 (GRCm39) missense possibly damaging 0.88
R3749:Slk UTSW 19 47,608,248 (GRCm39) missense possibly damaging 0.88
R4024:Slk UTSW 19 47,610,809 (GRCm39) splice site probably null
R4471:Slk UTSW 19 47,603,862 (GRCm39) missense probably damaging 1.00
R4647:Slk UTSW 19 47,608,713 (GRCm39) missense possibly damaging 0.71
R4825:Slk UTSW 19 47,608,395 (GRCm39) missense probably benign
R5205:Slk UTSW 19 47,613,899 (GRCm39) missense possibly damaging 0.91
R5228:Slk UTSW 19 47,613,771 (GRCm39) missense probably damaging 1.00
R5372:Slk UTSW 19 47,613,832 (GRCm39) missense probably damaging 1.00
R5665:Slk UTSW 19 47,624,896 (GRCm39) missense probably damaging 1.00
R5688:Slk UTSW 19 47,608,451 (GRCm39) missense probably benign 0.00
R5859:Slk UTSW 19 47,597,481 (GRCm39) missense probably benign 0.37
R6279:Slk UTSW 19 47,630,443 (GRCm39) missense probably damaging 1.00
R6368:Slk UTSW 19 47,608,622 (GRCm39) missense possibly damaging 0.85
R6431:Slk UTSW 19 47,609,327 (GRCm39) missense probably damaging 1.00
R6563:Slk UTSW 19 47,624,908 (GRCm39) critical splice donor site probably null
R6705:Slk UTSW 19 47,597,498 (GRCm39) missense probably benign 0.01
R6790:Slk UTSW 19 47,624,007 (GRCm39) missense probably damaging 0.96
R7495:Slk UTSW 19 47,627,417 (GRCm39) missense probably damaging 1.00
R7598:Slk UTSW 19 47,624,901 (GRCm39) missense probably damaging 1.00
R7728:Slk UTSW 19 47,609,255 (GRCm39) missense probably damaging 1.00
R7850:Slk UTSW 19 47,610,796 (GRCm39) missense probably damaging 1.00
R7860:Slk UTSW 19 47,630,510 (GRCm39) missense possibly damaging 0.65
R7911:Slk UTSW 19 47,603,668 (GRCm39) missense
R8000:Slk UTSW 19 47,597,344 (GRCm39) missense
R8847:Slk UTSW 19 47,607,632 (GRCm39) missense
R8944:Slk UTSW 19 47,600,057 (GRCm39) missense probably damaging 0.99
R8962:Slk UTSW 19 47,610,748 (GRCm39) missense probably damaging 1.00
R8988:Slk UTSW 19 47,608,712 (GRCm39) missense probably benign 0.00
R9028:Slk UTSW 19 47,608,512 (GRCm39) missense probably benign
R9093:Slk UTSW 19 47,603,883 (GRCm39) missense
R9747:Slk UTSW 19 47,608,346 (GRCm39) missense possibly damaging 0.71
X0052:Slk UTSW 19 47,609,372 (GRCm39) missense probably benign 0.05
Z1176:Slk UTSW 19 47,610,715 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGCAAATAAACGTGCCTCC -3'
(R):5'- TCCTCTGGTTTCAGACAATCAG -3'

Sequencing Primer
(F):5'- ATAAACGTGCCTCCTCTGAC -3'
(R):5'- CTGGTTTCAGACAATCAGTGTTC -3'
Posted On 2015-04-17