Incidental Mutation 'R0364:Slk'
ID 30253
Institutional Source Beutler Lab
Gene Symbol Slk
Ensembl Gene ENSMUSG00000025060
Gene Name STE20-like kinase
Synonyms Etk4, Stk2, 9A2, SLK, mSLK
MMRRC Submission 038570-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0364 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 47568458-47633685 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 47608628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Stop codon at position 527 (L527*)
Ref Sequence ENSEMBL: ENSMUSP00000049977 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026043] [ENSMUST00000051691]
AlphaFold O54988
Predicted Effect probably null
Transcript: ENSMUST00000026043
AA Change: L527*
SMART Domains Protein: ENSMUSP00000026043
Gene: ENSMUSG00000025060
AA Change: L527*

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 null
Transcript: ENSMUST00000051691
AA Change: L527*
SMART Domains Protein: ENSMUSP00000049977
Gene: ENSMUSG00000025060
AA Change: L527*

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 0.9647 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 99% (86/87)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 G A 7: 28,310,553 (GRCm39) probably benign Het
Ano7 A G 1: 93,316,380 (GRCm39) D221G probably benign Het
Arhgef12 A T 9: 42,929,697 (GRCm39) N199K probably damaging Het
Arpc2 A G 1: 74,276,046 (GRCm39) N26S probably null Het
Camta2 G A 11: 70,574,136 (GRCm39) T127I probably damaging Het
Ccdc13 T A 9: 121,627,282 (GRCm39) N665I probably damaging Het
Ccdc178 C T 18: 22,048,119 (GRCm39) R757H probably damaging Het
Cfap52 A C 11: 67,844,436 (GRCm39) I93S possibly damaging Het
Cmklr1 A T 5: 113,752,578 (GRCm39) L141H probably damaging Het
Crybb3 T A 5: 113,223,819 (GRCm39) I197F probably damaging Het
Cryzl1 G A 16: 91,504,155 (GRCm39) P97S probably benign Het
Cubn T C 2: 13,315,318 (GRCm39) probably benign Het
Cyp2d37-ps T C 15: 82,574,253 (GRCm39) noncoding transcript Het
Cyp4a12b C A 4: 115,290,117 (GRCm39) N223K probably benign Het
Dennd2a T C 6: 39,485,233 (GRCm39) T349A probably benign Het
Dnah12 A G 14: 26,445,628 (GRCm39) T730A probably benign Het
Dock5 G A 14: 68,060,129 (GRCm39) probably benign Het
Dync2i1 A G 12: 116,221,097 (GRCm39) probably benign Het
Elac2 A G 11: 64,870,136 (GRCm39) Y67C probably damaging Het
Elmo1 A T 13: 20,748,663 (GRCm39) K503* probably null Het
Endou A T 15: 97,616,854 (GRCm39) probably benign Het
Eng T C 2: 32,569,149 (GRCm39) S559P probably benign Het
Epc2 T A 2: 49,427,145 (GRCm39) V563E possibly damaging Het
Fbxw17 T C 13: 50,586,477 (GRCm39) S40P possibly damaging Het
Flt4 A T 11: 49,527,818 (GRCm39) M924L probably benign Het
Fyb1 A G 15: 6,610,272 (GRCm39) K282E probably damaging Het
Gabpa T A 16: 84,654,275 (GRCm39) N317K possibly damaging Het
Gli3 G T 13: 15,899,349 (GRCm39) G912V probably benign Het
Gm10295 C A 7: 71,000,361 (GRCm39) C73F unknown Het
Gm10382 G T 5: 125,466,728 (GRCm39) probably benign Het
Gp1ba T C 11: 70,531,284 (GRCm39) probably benign Het
Gpr146 G A 5: 139,364,933 (GRCm39) probably benign Het
Grm5 A G 7: 87,723,594 (GRCm39) Y628C probably damaging Het
Hexa A G 9: 59,471,218 (GRCm39) N491D probably benign Het
Hexd T A 11: 121,102,969 (GRCm39) H62Q probably benign Het
Hpx G T 7: 105,245,471 (GRCm39) Q101K probably benign Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Inpp4b A T 8: 82,723,943 (GRCm39) T492S probably benign Het
Iqgap2 A C 13: 95,867,783 (GRCm39) probably benign Het
Islr2 T C 9: 58,107,027 (GRCm39) T78A possibly damaging Het
Itga9 A G 9: 118,670,210 (GRCm39) T177A probably benign Het
Itpkc A C 7: 26,927,174 (GRCm39) S247A possibly damaging Het
Kirrel1 T C 3: 86,997,106 (GRCm39) Y287C probably damaging Het
Kiz T G 2: 146,784,076 (GRCm39) S536R probably benign Het
Klhl9 T G 4: 88,638,527 (GRCm39) K571N probably benign Het
Kprp A T 3: 92,731,642 (GRCm39) Y469* probably null Het
Ksr1 A T 11: 78,919,851 (GRCm39) probably benign Het
Lrrc37a C T 11: 103,391,466 (GRCm39) V1320I possibly damaging Het
Ltf A T 9: 110,854,235 (GRCm39) N350I probably benign Het
Msl3l2 G A 10: 55,991,947 (GRCm39) R224Q possibly damaging Het
Myh6 A T 14: 55,185,804 (GRCm39) Y1490* probably null Het
Necap1 A G 6: 122,857,728 (GRCm39) probably benign Het
Nf1 A T 11: 79,332,783 (GRCm39) K810* probably null Het
Nkx6-3 A G 8: 23,647,722 (GRCm39) E227G possibly damaging Het
Nlrp1a T A 11: 71,004,830 (GRCm39) probably benign Het
Obscn G A 11: 59,019,107 (GRCm39) A969V probably benign Het
Or11a4 T C 17: 37,536,934 (GRCm39) L306P possibly damaging Het
Or7g32 G A 9: 19,389,268 (GRCm39) Q90* probably null Het
Or8b40 A G 9: 38,027,325 (GRCm39) T78A probably benign Het
Or8k33 A T 2: 86,384,123 (GRCm39) L115Q probably damaging Het
Pcdhb17 C A 18: 37,618,888 (GRCm39) A226E possibly damaging Het
Phldb1 A T 9: 44,610,632 (GRCm39) probably benign Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Pon2 G A 6: 5,266,156 (GRCm39) Q288* probably null Het
Prr14 G A 7: 127,073,751 (GRCm39) R205H probably benign Het
Ptpn13 C A 5: 103,681,214 (GRCm39) R805S probably damaging Het
Pyroxd2 A T 19: 42,735,992 (GRCm39) V62D probably damaging Het
Rab37 G T 11: 115,047,790 (GRCm39) C44F probably damaging Het
Rbm44 T C 1: 91,080,069 (GRCm39) S52P probably benign Het
Rusf1 C T 7: 127,889,786 (GRCm39) R1H probably damaging Het
Scn5a T C 9: 119,351,665 (GRCm39) D772G probably damaging Het
Slc7a5 A G 8: 122,611,754 (GRCm39) F425L probably benign Het
Stpg4 T A 17: 87,697,142 (GRCm39) probably null Het
Taar6 C A 10: 23,861,046 (GRCm39) V167L probably benign Het
Tas2r123 T A 6: 132,824,644 (GRCm39) S180R probably benign Het
Tmc2 C T 2: 130,044,023 (GRCm39) R86W probably benign Het
Tmem200c T A 17: 69,147,543 (GRCm39) V42E probably damaging Het
Trhde T C 10: 114,338,887 (GRCm39) probably benign Het
Tshz1 A T 18: 84,034,249 (GRCm39) I53N probably benign Het
Tshz3 A G 7: 36,469,958 (GRCm39) E649G probably benign Het
Ttll7 C A 3: 146,650,936 (GRCm39) R719S possibly damaging Het
Utp4 T C 8: 107,625,169 (GRCm39) probably benign Het
Vmn1r35 A G 6: 66,655,827 (GRCm39) I281T probably damaging Het
Vps39 T G 2: 120,176,119 (GRCm39) K76T probably damaging Het
Whamm A G 7: 81,243,799 (GRCm39) T674A probably benign Het
Zbtb16 A G 9: 48,654,876 (GRCm39) probably benign Het
Zfp623 T C 15: 75,820,510 (GRCm39) S489P probably benign 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
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
R3750: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'- ACACAAGACCAGCAAACTGTGGATG -3'
(R):5'- ATTGGACTCGCTGACCTGCTCAAC -3'

Sequencing Primer
(F):5'- CACTGATTGTCTGAAACCAGAG -3'
(R):5'- ACCAGGAGGCTCTTCCTCAG -3'
Posted On 2013-04-24