Incidental Mutation 'R4775:Stkld1'
ID 367823
Institutional Source Beutler Lab
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Name serine/threonine kinase-like domain containing 1
Synonyms LOC279029, Gm711
MMRRC Submission 041991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4775 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26824059-26843508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26841757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 543 (V543E)
Ref Sequence ENSEMBL: ENSMUSP00000062967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]
AlphaFold Q80YS9
Predicted Effect probably damaging
Transcript: ENSMUST00000055406
AA Change: V543E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: V543E

DomainStartEndE-ValueType
Pfam:Pkinase 3 266 8e-35 PFAM
Pfam:Pkinase_Tyr 7 262 4.5e-27 PFAM
low complexity region 352 366 N/A INTRINSIC
low complexity region 446 456 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000064244
SMART Domains Protein: ENSMUSP00000070815
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 390 2.55e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114020
SMART Domains Protein: ENSMUSP00000109653
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 2 16 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
low complexity region 203 220 N/A INTRINSIC
EXOIII 252 413 2.55e-43 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123126
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135752
Predicted Effect probably benign
Transcript: ENSMUST00000136710
SMART Domains Protein: ENSMUSP00000121599
Gene: ENSMUSG00000052406

DomainStartEndE-ValueType
low complexity region 16 34 N/A INTRINSIC
low complexity region 180 197 N/A INTRINSIC
EXOIII 229 363 1.57e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145546
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139635
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,134,165 (GRCm39) Y426C probably damaging Het
Adam7 A G 14: 68,745,361 (GRCm39) I621T probably benign Het
Adamts1 A T 16: 85,597,278 (GRCm39) Y260* probably null Het
Adgrf1 C T 17: 43,622,054 (GRCm39) L764F probably damaging Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Atp9b A G 18: 80,808,984 (GRCm39) probably null Het
C5ar2 A C 7: 15,971,540 (GRCm39) L129R probably damaging Het
Ccdc174 G A 6: 91,867,875 (GRCm39) probably null Het
Cidec T C 6: 113,411,695 (GRCm39) M1V probably null Het
Clec16a G T 16: 10,456,778 (GRCm39) R663L probably damaging Het
Col25a1 T C 3: 129,976,468 (GRCm39) C118R possibly damaging Het
Cox6b2 A G 7: 4,755,074 (GRCm39) C67R probably damaging Het
Cspg4b A T 13: 113,454,229 (GRCm39) I92F possibly damaging Het
Cwf19l2 A G 9: 3,430,973 (GRCm39) Y435C probably benign Het
Dapk1 T A 13: 60,897,156 (GRCm39) S792T probably benign Het
Dis3l T A 9: 64,238,190 (GRCm39) N101Y probably benign Het
Dsg4 A G 18: 20,604,184 (GRCm39) T884A possibly damaging Het
Dvl1 T C 4: 155,942,584 (GRCm39) W617R probably benign Het
Eml5 A G 12: 98,768,566 (GRCm39) V1503A probably benign Het
Engase A T 11: 118,373,497 (GRCm39) D280V probably benign Het
F11r T C 1: 171,289,209 (GRCm39) S224P probably damaging Het
Fanca A G 8: 124,023,045 (GRCm39) V564A probably damaging Het
Foxj2 G T 6: 122,810,230 (GRCm39) Q196H probably benign Het
Gle1 T C 2: 29,826,073 (GRCm39) W51R possibly damaging Het
Gm94 A G 18: 43,925,836 (GRCm39) probably null Het
Gm9830 A T 9: 44,375,721 (GRCm39) noncoding transcript Het
Gpaa1 T A 15: 76,218,891 (GRCm39) probably null Het
Grin1 C T 2: 25,182,475 (GRCm39) A929T possibly damaging Het
Grm7 T A 6: 110,891,332 (GRCm39) D188E probably damaging Het
Gtf2ird2 T C 5: 134,242,970 (GRCm39) F395L probably benign Het
Lipo3 C A 19: 33,757,795 (GRCm39) G225C probably damaging Het
Lonrf2 T A 1: 38,857,140 (GRCm39) probably null Het
Marveld2 A G 13: 100,753,303 (GRCm39) probably benign Het
Mpl A G 4: 118,305,777 (GRCm39) L416P probably damaging Het
Mppe1 A G 18: 67,359,930 (GRCm39) L312P possibly damaging Het
Mpzl3 T A 9: 44,977,730 (GRCm39) S113T probably damaging Het
Mylk3 G A 8: 86,085,689 (GRCm39) Q149* probably null Het
Myt1 T A 2: 181,464,470 (GRCm39) I968N probably damaging Het
Ndc80 A G 17: 71,821,265 (GRCm39) Y228H probably damaging Het
Nelfcd T G 2: 174,268,369 (GRCm39) C520G probably damaging Het
Nfrkb C A 9: 31,330,345 (GRCm39) T1199K possibly damaging Het
Nipa2 A G 7: 55,585,611 (GRCm39) I109T probably benign Het
Nlrp4e A G 7: 23,042,525 (GRCm39) T804A probably benign Het
Nsf A T 11: 103,763,419 (GRCm39) I395K possibly damaging Het
Nt5c1b G A 12: 10,425,449 (GRCm39) V331I probably damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or1e29 A G 11: 73,667,377 (GRCm39) Y259H probably damaging Het
Pask T C 1: 93,265,246 (GRCm39) D3G probably damaging Het
Pglyrp3 T C 3: 91,933,037 (GRCm39) V110A possibly damaging Het
Ppp4r3a C T 12: 101,019,825 (GRCm39) V377M probably damaging Het
Prr12 A G 7: 44,700,749 (GRCm39) probably benign Het
Ptdss1 G A 13: 67,135,922 (GRCm39) probably null Het
Qser1 A G 2: 104,620,246 (GRCm39) S189P probably damaging Het
Rph3a T A 5: 121,092,551 (GRCm39) Y350F probably benign Het
Skint4 A T 4: 111,993,261 (GRCm39) H328L probably damaging Het
Smyd4 G A 11: 75,282,018 (GRCm39) C497Y probably damaging Het
Stk11ip T C 1: 75,510,497 (GRCm39) W864R possibly damaging Het
Taok2 A G 7: 126,469,940 (GRCm39) S963P probably damaging Het
Tars2 A G 3: 95,653,959 (GRCm39) L354P probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpcn2 A G 7: 144,821,079 (GRCm39) L325P probably damaging Het
Trappc3l C G 10: 33,974,807 (GRCm39) H96Q probably benign Het
Trim66 A T 7: 109,056,796 (GRCm39) Y1120* probably null Het
Trio G A 15: 27,881,428 (GRCm39) Q548* probably null Het
Wipf2 T A 11: 98,781,558 (GRCm39) D32E probably benign Het
Other mutations in Stkld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Stkld1 APN 2 26,841,483 (GRCm39) missense probably benign 0.01
IGL02183:Stkld1 APN 2 26,836,671 (GRCm39) missense probably benign 0.04
IGL02393:Stkld1 APN 2 26,840,154 (GRCm39) missense probably benign 0.41
IGL03136:Stkld1 APN 2 26,841,435 (GRCm39) missense probably benign 0.00
IGL03261:Stkld1 APN 2 26,842,789 (GRCm39) missense probably benign 0.21
R0067:Stkld1 UTSW 2 26,839,352 (GRCm39) missense probably benign 0.01
R0067:Stkld1 UTSW 2 26,839,352 (GRCm39) missense probably benign 0.01
R0973:Stkld1 UTSW 2 26,841,462 (GRCm39) missense probably benign 0.00
R1065:Stkld1 UTSW 2 26,830,050 (GRCm39) missense probably damaging 0.97
R1467:Stkld1 UTSW 2 26,839,407 (GRCm39) missense probably benign 0.00
R1467:Stkld1 UTSW 2 26,839,407 (GRCm39) missense probably benign 0.00
R1565:Stkld1 UTSW 2 26,840,102 (GRCm39) missense probably benign 0.00
R1844:Stkld1 UTSW 2 26,840,115 (GRCm39) missense probably damaging 1.00
R1871:Stkld1 UTSW 2 26,827,985 (GRCm39) unclassified probably benign
R1965:Stkld1 UTSW 2 26,836,744 (GRCm39) splice site probably null
R2001:Stkld1 UTSW 2 26,842,759 (GRCm39) missense probably damaging 1.00
R2308:Stkld1 UTSW 2 26,842,726 (GRCm39) missense probably damaging 0.98
R2566:Stkld1 UTSW 2 26,840,650 (GRCm39) missense probably damaging 1.00
R3929:Stkld1 UTSW 2 26,830,059 (GRCm39) critical splice donor site probably null
R4257:Stkld1 UTSW 2 26,833,146 (GRCm39) missense probably benign 0.02
R4493:Stkld1 UTSW 2 26,836,638 (GRCm39) missense probably benign 0.00
R4494:Stkld1 UTSW 2 26,836,638 (GRCm39) missense probably benign 0.00
R4589:Stkld1 UTSW 2 26,840,679 (GRCm39) missense probably damaging 1.00
R5601:Stkld1 UTSW 2 26,842,717 (GRCm39) missense probably damaging 1.00
R5707:Stkld1 UTSW 2 26,833,999 (GRCm39) missense probably damaging 1.00
R6259:Stkld1 UTSW 2 26,839,393 (GRCm39) missense possibly damaging 0.70
R6306:Stkld1 UTSW 2 26,833,899 (GRCm39) missense probably damaging 0.98
R6349:Stkld1 UTSW 2 26,835,872 (GRCm39) missense probably benign 0.00
R6418:Stkld1 UTSW 2 26,831,093 (GRCm39) missense possibly damaging 0.47
R6806:Stkld1 UTSW 2 26,833,922 (GRCm39) missense probably benign 0.01
R7079:Stkld1 UTSW 2 26,839,359 (GRCm39) missense probably benign 0.00
R7199:Stkld1 UTSW 2 26,842,726 (GRCm39) missense probably damaging 0.98
R7522:Stkld1 UTSW 2 26,837,259 (GRCm39) missense probably benign 0.13
R7556:Stkld1 UTSW 2 26,837,307 (GRCm39) missense possibly damaging 0.74
R7813:Stkld1 UTSW 2 26,835,888 (GRCm39) nonsense probably null
R8165:Stkld1 UTSW 2 26,836,668 (GRCm39) missense probably benign 0.01
R8330:Stkld1 UTSW 2 26,841,515 (GRCm39) missense probably benign 0.00
R8709:Stkld1 UTSW 2 26,835,817 (GRCm39) missense probably benign 0.03
R8935:Stkld1 UTSW 2 26,833,941 (GRCm39) nonsense probably null
R9137:Stkld1 UTSW 2 26,840,572 (GRCm39) missense probably benign 0.00
R9599:Stkld1 UTSW 2 26,843,297 (GRCm39) missense possibly damaging 0.61
Predicted Primers PCR Primer
(F):5'- ACAAAGAGCCCTTGGAGCAG -3'
(R):5'- GGAGACTCATGTGGCTATAGG -3'

Sequencing Primer
(F):5'- AGCTCTCTGGCATGGTCAC -3'
(R):5'- AGACTCATGTGGCTATAGGATGTG -3'
Posted On 2015-12-29