Incidental Mutation 'IGL03261:Stkld1'
ID414823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stkld1
Ensembl Gene ENSMUSG00000049897
Gene Nameserine/threonine kinase-like domain containing 1
SynonymsLOC279029, Gm711
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL03261
Quality Score
Status
Chromosome2
Chromosomal Location26934047-26953496 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 26952777 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 587 (H587L)
Ref Sequence ENSEMBL: ENSMUSP00000062967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055406] [ENSMUST00000064244] [ENSMUST00000114020] [ENSMUST00000136710]
Predicted Effect probably benign
Transcript: ENSMUST00000055406
AA Change: H587L

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000062967
Gene: ENSMUSG00000049897
AA Change: H587L

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: ENSMUST00000139635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145546
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T G 7: 27,580,438 Y281* probably null Het
5830411N06Rik A G 7: 140,294,833 H408R probably benign Het
Adamts3 T C 5: 89,882,897 probably benign Het
Afp T C 5: 90,491,751 probably null Het
Ap1g2 T C 14: 55,100,530 T634A probably benign Het
Cidec A G 6: 113,433,172 V32A probably benign Het
Dip2a G A 10: 76,305,148 P315S possibly damaging Het
Hoxc11 T C 15: 102,954,743 V73A probably benign Het
Jmjd1c A G 10: 67,232,070 Y1784C probably damaging Het
Mmp21 A G 7: 133,674,674 V480A probably benign Het
Nek4 C T 14: 30,975,290 T471I probably benign Het
Nr4a2 A G 2: 57,110,187 V299A probably benign Het
Olfr761 A T 17: 37,952,806 S73T possibly damaging Het
Olfr774 A G 10: 129,238,403 T85A possibly damaging Het
Ptprg A G 14: 12,225,552 D505G probably damaging Het
Rag2 A G 2: 101,630,263 D306G probably damaging Het
Rpap2 T A 5: 107,598,560 S38T possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Slx4ip A T 2: 137,046,739 R113S probably benign Het
Smyd5 T A 6: 85,432,018 M5K probably benign Het
Taf4b A G 18: 14,821,528 T554A probably benign Het
Tex16 C A X: 112,118,855 D350E possibly damaging Het
Tex38 T C 4: 115,780,526 K27E possibly damaging Het
Trdv4 T C 14: 54,075,418 L83P possibly damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Vmn1r120 A G 7: 21,053,525 L87P probably damaging Het
Zfp236 T C 18: 82,630,608 D916G possibly damaging Het
Other mutations in Stkld1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Stkld1 APN 2 26951471 missense probably benign 0.01
IGL02183:Stkld1 APN 2 26946659 missense probably benign 0.04
IGL02393:Stkld1 APN 2 26950142 missense probably benign 0.41
IGL03136:Stkld1 APN 2 26951423 missense probably benign 0.00
R0067:Stkld1 UTSW 2 26949340 missense probably benign 0.01
R0067:Stkld1 UTSW 2 26949340 missense probably benign 0.01
R0973:Stkld1 UTSW 2 26951450 missense probably benign 0.00
R1065:Stkld1 UTSW 2 26940038 missense probably damaging 0.97
R1467:Stkld1 UTSW 2 26949395 missense probably benign 0.00
R1467:Stkld1 UTSW 2 26949395 missense probably benign 0.00
R1565:Stkld1 UTSW 2 26950090 missense probably benign 0.00
R1844:Stkld1 UTSW 2 26950103 missense probably damaging 1.00
R1871:Stkld1 UTSW 2 26937973 unclassified probably benign
R1965:Stkld1 UTSW 2 26946732 unclassified probably null
R2001:Stkld1 UTSW 2 26952747 missense probably damaging 1.00
R2308:Stkld1 UTSW 2 26952714 missense probably damaging 0.98
R2566:Stkld1 UTSW 2 26950638 missense probably damaging 1.00
R3929:Stkld1 UTSW 2 26940047 critical splice donor site probably null
R4257:Stkld1 UTSW 2 26943134 missense probably benign 0.02
R4493:Stkld1 UTSW 2 26946626 missense probably benign 0.00
R4494:Stkld1 UTSW 2 26946626 missense probably benign 0.00
R4589:Stkld1 UTSW 2 26950667 missense probably damaging 1.00
R4775:Stkld1 UTSW 2 26951745 missense probably damaging 0.99
R5601:Stkld1 UTSW 2 26952705 missense probably damaging 1.00
R5707:Stkld1 UTSW 2 26943987 missense probably damaging 1.00
R6259:Stkld1 UTSW 2 26949381 missense possibly damaging 0.70
R6306:Stkld1 UTSW 2 26943887 missense probably damaging 0.98
R6349:Stkld1 UTSW 2 26945860 missense probably benign 0.00
R6418:Stkld1 UTSW 2 26941081 missense possibly damaging 0.47
R6806:Stkld1 UTSW 2 26943910 missense probably benign 0.01
R7079:Stkld1 UTSW 2 26949347 missense probably benign 0.00
R7199:Stkld1 UTSW 2 26952714 missense probably damaging 0.98
R7522:Stkld1 UTSW 2 26947247 missense probably benign 0.13
R7556:Stkld1 UTSW 2 26947295 missense possibly damaging 0.74
Posted On2016-08-02