Incidental Mutation 'R5707:Stkld1'
ID 452004
Institutional Source Beutler Lab
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Name serine/threonine kinase-like domain containing 1
Synonyms LOC279029, Gm711
MMRRC Submission 043332-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # R5707 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 26824059-26843508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26833999 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 162 (E162G)
Ref Sequence ENSEMBL: ENSMUSP00000062967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000153771]
AlphaFold Q80YS9
Predicted Effect probably damaging
Transcript: ENSMUST00000055406
AA Change: E162G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: E162G

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 0.2950 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 97% (56/58)
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,460,620 (GRCm39) L4210P probably damaging Het
Adcy6 T C 15: 98,496,622 (GRCm39) T518A probably damaging Het
Adgb C T 10: 10,267,501 (GRCm39) V940I probably damaging Het
Aqp11 A G 7: 97,386,635 (GRCm39) V187A possibly damaging Het
Arhgef15 A G 11: 68,845,541 (GRCm39) S104P probably damaging Het
Birc6 T A 17: 75,003,399 (GRCm39) N4762K probably damaging Het
Cacna1e T C 1: 154,509,463 (GRCm39) D264G probably damaging Het
Cela3b G T 4: 137,152,167 (GRCm39) Q97K probably damaging Het
Cenpc1 T A 5: 86,183,293 (GRCm39) R499W possibly damaging Het
Chct1 A G 11: 85,064,138 (GRCm39) N93S probably benign Het
Cnr1 C A 4: 33,944,330 (GRCm39) C239* probably null Het
Col6a2 T C 10: 76,446,865 (GRCm39) K348E possibly damaging Het
Ctnnb1 C A 9: 120,784,234 (GRCm39) L368I probably benign Het
Diras1 T C 10: 80,857,915 (GRCm39) E112G probably benign Het
Dop1a T A 9: 86,385,050 (GRCm39) M332K possibly damaging Het
Dpy19l1 T C 9: 24,325,563 (GRCm39) *747W probably null Het
Dydc2 T G 14: 40,783,911 (GRCm39) T71P probably damaging Het
Elapor2 A G 5: 9,491,698 (GRCm39) Y686C probably damaging Het
Ggt1 T A 10: 75,421,072 (GRCm39) I429N probably benign Het
Gm5114 G C 7: 39,060,700 (GRCm39) L50V probably benign Het
Gm5121 T G 9: 57,241,766 (GRCm39) noncoding transcript Het
Kidins220 A G 12: 25,063,390 (GRCm39) D933G probably damaging Het
Kirrel3 A G 9: 34,924,572 (GRCm39) K286R probably damaging Het
Klf5 T C 14: 99,538,944 (GRCm39) I39T probably benign Het
Krt14 C T 11: 100,095,584 (GRCm39) V274I possibly damaging Het
Meiob A G 17: 25,054,025 (GRCm39) D364G probably benign Het
Mroh7 T A 4: 106,539,082 (GRCm39) E1190D possibly damaging Het
Mtmr7 T C 8: 41,011,203 (GRCm39) E285G possibly damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Odad4 G A 11: 100,444,887 (GRCm39) A348T probably damaging Het
Or1af1 C A 2: 37,109,901 (GRCm39) N133K probably benign Het
Or1e23 G T 11: 73,407,451 (GRCm39) D191E probably damaging Het
Or2b2b A G 13: 21,858,769 (GRCm39) L115P probably damaging Het
Pcare G T 17: 72,058,567 (GRCm39) A370E possibly damaging Het
Pdlim5 T A 3: 142,010,060 (GRCm39) H294L probably damaging Het
Pdzd8 A T 19: 59,288,057 (GRCm39) D1114E probably benign Het
Phf20 T G 2: 156,138,691 (GRCm39) probably null Het
Plec C T 15: 76,083,871 (GRCm39) probably benign Het
Ppp1r18 T C 17: 36,178,128 (GRCm39) M1T probably null Het
Ppp4r3a G A 12: 101,024,770 (GRCm39) T243I probably damaging Het
Prss41 C T 17: 24,061,390 (GRCm39) V134I probably benign Het
Pter T C 2: 12,982,991 (GRCm39) probably benign Het
Rasgef1b T G 5: 99,382,461 (GRCm39) K176N possibly damaging Het
Reps1 T A 10: 17,931,758 (GRCm39) D16E probably benign Het
Slc4a5 T A 6: 83,238,397 (GRCm39) D73E probably benign Het
Smgc A T 15: 91,744,861 (GRCm39) T146S possibly damaging Het
Sptbn1 A T 11: 30,093,174 (GRCm39) W396R possibly damaging Het
Tanc1 T C 2: 59,588,874 (GRCm39) F106L probably benign Het
Tarbp1 A G 8: 127,193,883 (GRCm39) Y340H probably damaging Het
Tenm2 T C 11: 35,938,009 (GRCm39) I1556V possibly damaging Het
Tmem64 T C 4: 15,266,288 (GRCm39) C113R probably damaging Het
Try4 T C 6: 41,281,977 (GRCm39) F188L possibly damaging Het
Ucn3 A G 13: 3,991,556 (GRCm39) V32A probably benign Het
Vmn2r83 T A 10: 79,327,183 (GRCm39) M597K possibly damaging Het
Wdr90 A G 17: 26,076,166 (GRCm39) V491A probably benign Het
Xylt1 T A 7: 117,255,717 (GRCm39) M763K possibly damaging Het
Zfp507 G T 7: 35,493,588 (GRCm39) A485E probably damaging 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
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
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'- TTAAGGCTCAGGCATGTGC -3'
(R):5'- CATTGCTTTGTTCCCCAAGG -3'

Sequencing Primer
(F):5'- AGGCATGTGCTAGCCCTATC -3'
(R):5'- CCAAGGATCTCTTTTACATGTGTTG -3'
Posted On 2017-01-03