Incidental Mutation 'R1844:Stkld1'
ID 207508
Institutional Source Beutler Lab
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Name serine/threonine kinase-like domain containing 1
Synonyms LOC279029, Gm711
MMRRC Submission 039869-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R1844 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26824059-26843508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26840115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 395 (H395R)
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: H395R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: H395R

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 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: ENSMUST00000139635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145546
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 A G 4: 40,197,566 (GRCm39) K857E probably benign Het
Adam20 A G 8: 41,249,080 (GRCm39) N397D probably benign Het
Adgrf3 T G 5: 30,404,211 (GRCm39) D347A probably damaging Het
Ang6 C T 14: 44,239,330 (GRCm39) E133K possibly damaging Het
Arhgap23 T A 11: 97,354,234 (GRCm39) W205R probably damaging Het
Arhgef40 C A 14: 52,235,080 (GRCm39) R1086S probably damaging Het
Atr G T 9: 95,787,870 (GRCm39) A1488S probably benign Het
Cabin1 A T 10: 75,579,184 (GRCm39) probably null Het
Cby2 C T 14: 75,820,850 (GRCm39) V292I probably benign Het
Cdh22 A C 2: 164,985,614 (GRCm39) F324C probably damaging Het
Cep350 T C 1: 155,724,374 (GRCm39) I3075V probably damaging Het
Chd9 A T 8: 91,683,323 (GRCm39) K588* probably null Het
Clns1a A T 7: 97,346,066 (GRCm39) I44F probably damaging Het
Colgalt1 T C 8: 72,063,995 (GRCm39) I51T possibly damaging Het
Cpt2 C T 4: 107,761,452 (GRCm39) E217K possibly damaging Het
Ctss A G 3: 95,454,105 (GRCm39) probably null Het
Cyp1a1 A G 9: 57,609,980 (GRCm39) T465A probably benign Het
Dbn1 A G 13: 55,629,160 (GRCm39) probably null Het
Dennd1b A G 1: 139,018,143 (GRCm39) probably null Het
Dnajc1 A C 2: 18,298,838 (GRCm39) Y49* probably null Het
Dock10 T A 1: 80,520,918 (GRCm39) I1188L probably damaging Het
Dsg1c T G 18: 20,416,096 (GRCm39) probably null Het
Efcab6 G A 15: 83,851,822 (GRCm39) T352I possibly damaging Het
Eps8l3 T C 3: 107,786,902 (GRCm39) L26P possibly damaging Het
Fbxw26 A G 9: 109,553,946 (GRCm39) V231A probably benign Het
Fetub G A 16: 22,754,419 (GRCm39) E209K possibly damaging Het
Galc A T 12: 98,212,556 (GRCm39) probably null Het
Gm6871 A T 7: 41,222,892 (GRCm39) N65K probably benign Het
Gstp3 A G 19: 4,107,540 (GRCm39) I208T probably benign Het
Gtpbp3 A G 8: 71,945,272 (GRCm39) Y448C probably benign Het
Hdac7 G T 15: 97,705,857 (GRCm39) Q385K probably damaging Het
Hemgn C T 4: 46,396,655 (GRCm39) V194M possibly damaging Het
Idh2 G C 7: 79,748,625 (GRCm39) T113R probably benign Het
Jarid2 A C 13: 45,056,219 (GRCm39) K336T possibly damaging Het
Kcnj4 C T 15: 79,369,216 (GRCm39) V255M probably damaging Het
Ldhb C A 6: 142,439,934 (GRCm39) W202L probably damaging Het
Lmbrd2 T A 15: 9,177,838 (GRCm39) Y512* probably null Het
Lrp1 A G 10: 127,431,152 (GRCm39) probably null Het
Map3k12 G A 15: 102,411,970 (GRCm39) P365S probably damaging Het
Map3k5 G A 10: 19,979,909 (GRCm39) D806N probably benign Het
Matn3 A G 12: 9,017,662 (GRCm39) E438G possibly damaging Het
Mcmbp G A 7: 128,325,698 (GRCm39) L97F probably damaging Het
Mmp3 A T 9: 7,453,662 (GRCm39) I428L probably benign Het
Mphosph8 T C 14: 56,934,616 (GRCm39) V855A probably damaging Het
Mycbp2 T A 14: 103,393,150 (GRCm39) H3027L possibly damaging Het
Nbea C T 3: 55,989,857 (GRCm39) R333H probably damaging Het
Notch1 G T 2: 26,350,446 (GRCm39) H2231Q probably benign Het
Npas2 A T 1: 39,364,456 (GRCm39) H266L probably damaging Het
Oas3 A G 5: 120,898,045 (GRCm39) S833P probably damaging Het
Or1j15 T C 2: 36,458,789 (GRCm39) Y60H probably damaging Het
Or5ak24 T C 2: 85,260,265 (GRCm39) T303A probably benign Het
Or5w17 A C 2: 87,584,334 (GRCm39) M1R probably null Het
Or6c65 G A 10: 129,603,725 (GRCm39) R120H probably benign Het
Pak4 C T 7: 28,264,690 (GRCm39) V71I possibly damaging Het
Pitpnm1 T C 19: 4,162,395 (GRCm39) V1075A probably damaging Het
Pkp3 G A 7: 140,668,415 (GRCm39) V555M probably damaging Het
Plekhm2 T C 4: 141,359,685 (GRCm39) T381A probably benign Het
Plppr3 A G 10: 79,702,244 (GRCm39) probably null Het
Ppp2r5e A T 12: 75,516,540 (GRCm39) F216I possibly damaging Het
Ppp3ca T A 3: 136,627,672 (GRCm39) V412D probably benign Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Psph A C 5: 129,843,532 (GRCm39) I174R probably damaging Het
Ptov1 A G 7: 44,514,991 (GRCm39) Y207H possibly damaging Het
Ptprs A G 17: 56,741,510 (GRCm39) S585P probably damaging Het
Rnf146 A T 10: 29,223,720 (GRCm39) H55Q probably damaging Het
Rnf213 T A 11: 119,332,009 (GRCm39) M2407K probably damaging Het
Rnls A C 19: 33,179,931 (GRCm39) L55R possibly damaging Het
Rptor T C 11: 119,647,146 (GRCm39) C246R probably damaging Het
Rrp12 C T 19: 41,866,222 (GRCm39) probably null Het
Samd3 A G 10: 26,127,672 (GRCm39) D223G probably damaging Het
Sdad1 G A 5: 92,453,155 (GRCm39) Q68* probably null Het
Selenov G A 7: 27,989,847 (GRCm39) T219M probably damaging Het
Shd A G 17: 56,278,554 (GRCm39) D39G possibly damaging Het
Slc26a10 A T 10: 127,014,279 (GRCm39) V245E probably damaging Het
Slit1 A G 19: 41,614,012 (GRCm39) L820P probably damaging Het
Snap23 T C 2: 120,421,163 (GRCm39) F96L probably benign Het
Speer1k T C 5: 10,998,994 (GRCm39) probably benign Het
Spef1l A T 7: 139,556,005 (GRCm39) I212N probably benign Het
Syt13 G A 2: 92,771,165 (GRCm39) G84D probably damaging Het
Terb2 T A 2: 122,016,990 (GRCm39) L37Q probably damaging Het
Themis A G 10: 28,657,753 (GRCm39) Y107C probably damaging Het
Top2a T A 11: 98,906,895 (GRCm39) T249S probably benign Het
Tspo2 A T 17: 48,756,148 (GRCm39) F71Y probably damaging Het
Ttc21b T A 2: 66,053,921 (GRCm39) K753* probably null Het
Ttk A G 9: 83,736,915 (GRCm39) Y458C possibly damaging Het
Ttn T C 2: 76,586,017 (GRCm39) R21905G probably damaging Het
Ugt3a1 T A 15: 9,351,254 (GRCm39) F88I probably benign Het
Vmn1r119 A G 7: 20,746,121 (GRCm39) L87P probably damaging Het
Vmn1r36 A G 6: 66,693,747 (GRCm39) F6L probably benign Het
Vmn2r15 T A 5: 109,434,860 (GRCm39) K615* probably null Het
Wdr18 G A 10: 79,802,561 (GRCm39) probably null Het
Wdr6 A T 9: 108,453,176 (GRCm39) W236R probably damaging Het
Zbtb48 T C 4: 152,110,955 (GRCm39) T187A 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
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
R4775:Stkld1 UTSW 2 26,841,757 (GRCm39) missense probably damaging 0.99
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'- AAGAGGTGATGTTATTCCCAGTGAG -3'
(R):5'- AATTCTTGGCCACTGTCCCG -3'

Sequencing Primer
(F):5'- AGGGAGGACACCTTTCCATCTTAG -3'
(R):5'- AGTTTCCAAGCAGTGCCCATG -3'
Posted On 2014-06-23