Incidental Mutation 'R4493:Stkld1'
ID 330816
Institutional Source Beutler Lab
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Name serine/threonine kinase-like domain containing 1
Synonyms LOC279029, Gm711
MMRRC Submission 041748-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R4493 (G1)
Quality Score 157
Status Validated
Chromosome 2
Chromosomal Location 26824059-26843508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26836638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 268 (N268S)
Ref Sequence ENSEMBL: ENSMUSP00000062967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000153771]
AlphaFold Q80YS9
Predicted Effect probably benign
Transcript: ENSMUST00000055406
AA Change: N268S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: N268S

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: ENSMUST00000153771
SMART Domains Protein: ENSMUSP00000121332
Gene: ENSMUSG00000049897

DomainStartEndE-ValueType
Pfam:Pkinase 4 116 2.3e-8 PFAM
Pfam:Pkinase_Tyr 6 115 4.6e-6 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna1b T C 2: 24,542,950 (GRCm39) T1301A probably damaging Het
Ccdc141 A G 2: 76,962,641 (GRCm39) V101A probably damaging Het
Ccdc146 T C 5: 21,508,191 (GRCm39) E619G possibly damaging Het
Cfap91 T C 16: 38,162,130 (GRCm39) T4A probably benign Het
Cmya5 T C 13: 93,230,573 (GRCm39) E1505G probably benign Het
Cngb3 C A 4: 19,367,778 (GRCm39) P229Q probably damaging Het
Ctnna2 A G 6: 76,958,831 (GRCm39) V461A probably damaging Het
D430041D05Rik T C 2: 104,086,684 (GRCm39) D764G probably benign Het
Dgki T C 6: 36,951,796 (GRCm39) probably benign Het
Dhx36 A T 3: 62,395,925 (GRCm39) probably benign Het
Gcn1 T C 5: 115,732,203 (GRCm39) I1006T probably benign Het
Glt8d2 T A 10: 82,500,547 (GRCm39) M20L possibly damaging Het
Greb1 C A 12: 16,748,611 (GRCm39) G1122V probably benign Het
Hmcn1 A T 1: 150,577,650 (GRCm39) I2037N probably damaging Het
Hspa4l A G 3: 40,722,434 (GRCm39) I340V possibly damaging Het
Itpr3 A G 17: 27,323,586 (GRCm39) K1204E probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcph1 T A 8: 18,681,752 (GRCm39) C296* probably null Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Naga A G 15: 82,216,715 (GRCm39) F259S probably damaging Het
Nes A G 3: 87,884,120 (GRCm39) E793G probably damaging Het
Nfkb2 A G 19: 46,296,878 (GRCm39) D316G probably damaging Het
Pcdha4 A T 18: 37,087,644 (GRCm39) Y609F possibly damaging Het
Pgam1 C T 19: 41,904,215 (GRCm39) A104V possibly damaging Het
Piezo2 T C 18: 63,247,134 (GRCm39) I525V probably damaging Het
Pold1 A G 7: 44,187,132 (GRCm39) V683A probably damaging Het
Poteg T C 8: 27,970,125 (GRCm39) V316A possibly damaging Het
Ppih A T 4: 119,168,042 (GRCm39) N156K probably damaging Het
Prep T C 10: 44,996,915 (GRCm39) F398L probably benign Het
Prlhr A T 19: 60,455,519 (GRCm39) M349K probably benign Het
Rtp4 A T 16: 23,428,827 (GRCm39) H30L probably benign Het
Syt6 A G 3: 103,492,946 (GRCm39) E66G probably damaging Het
Tas2r129 A G 6: 132,928,317 (GRCm39) I85V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tprn T C 2: 25,158,904 (GRCm39) S643P probably damaging Het
Trrap T C 5: 144,767,858 (GRCm39) V2605A probably benign Het
Vmn1r230 T A 17: 21,066,863 (GRCm39) N17K probably benign Het
Xkrx T C X: 133,051,745 (GRCm39) N302S possibly damaging Het
Zfp946 T A 17: 22,670,067 (GRCm39) probably null 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
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'- AGGGAGTCCTGTGATTTCAGAG -3'
(R):5'- AGCATCTGAAACTAGTGCCAAGG -3'

Sequencing Primer
(F):5'- AGTCCTGTGATTTCAGAGTAGAG -3'
(R):5'- AAACTAGTGCCAAGGCCGGTC -3'
Posted On 2015-07-21