Incidental Mutation 'IGL01467:Stk33'
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ID88128
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk33
Ensembl Gene ENSMUSG00000031027
Gene Nameserine/threonine kinase 33
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL01467
Quality Score
Status
Chromosome7
Chromosomal Location109279223-109439081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109329589 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 239 (I239L)
Ref Sequence ENSEMBL: ENSMUSP00000112515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090414] [ENSMUST00000106745] [ENSMUST00000121378] [ENSMUST00000121748] [ENSMUST00000141210]
Predicted Effect probably damaging
Transcript: ENSMUST00000090414
AA Change: I239L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000087897
Gene: ENSMUSG00000031027
AA Change: I239L

DomainStartEndE-ValueType
S_TKc 111 377 4.7e-102 SMART
low complexity region 399 414 N/A INTRINSIC
low complexity region 445 467 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000106745
AA Change: I239L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000102356
Gene: ENSMUSG00000031027
AA Change: I239L

DomainStartEndE-ValueType
S_TKc 111 377 4.7e-102 SMART
low complexity region 399 414 N/A INTRINSIC
low complexity region 445 467 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121378
AA Change: I116L

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112560
Gene: ENSMUSG00000031027
AA Change: I116L

DomainStartEndE-ValueType
S_TKc 2 254 1.01e-83 SMART
low complexity region 276 291 N/A INTRINSIC
low complexity region 322 344 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000121748
AA Change: I239L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112515
Gene: ENSMUSG00000031027
AA Change: I239L

DomainStartEndE-ValueType
S_TKc 111 377 4.8e-102 SMART
low complexity region 399 414 N/A INTRINSIC
low complexity region 445 467 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000141210
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1a A G 5: 121,519,728 C501R probably damaging Het
Atxn1 C T 13: 45,567,193 V409I probably damaging Het
Cdkn2aip T C 8: 47,711,212 R489G probably damaging Het
Cgn A G 3: 94,779,588 S135P probably damaging Het
Cpne3 C A 4: 19,553,737 C98F probably benign Het
Cyp2c23 T C 19: 44,015,073 N221S possibly damaging Het
Dnah8 A G 17: 30,779,916 N3525S probably damaging Het
Efr3b T C 12: 3,969,597 E560G probably damaging Het
Eif2b5 C A 16: 20,508,964 C154* probably null Het
Eps8l2 A G 7: 141,361,601 E595G probably damaging Het
Gm8394 A G 10: 85,314,122 noncoding transcript Het
Gm9839 A T 1: 32,519,951 I350N probably damaging Het
Hdlbp A T 1: 93,417,698 probably benign Het
Il18rap A T 1: 40,548,639 I466F probably damaging Het
Itpr1 T A 6: 108,488,496 I2123N probably damaging Het
Jakmip2 A G 18: 43,582,287 I58T probably benign Het
Kdm2a A G 19: 4,324,407 S899P probably damaging Het
Mmp15 T A 8: 95,366,331 F113I probably benign Het
Neb T C 2: 52,159,487 H6448R possibly damaging Het
Olfr165 T C 16: 19,407,789 T77A probably benign Het
Olfr340 C T 2: 36,452,644 R20* probably null Het
Pdgfc A G 3: 81,209,091 T251A probably damaging Het
Pdgfra T C 5: 75,185,631 probably null Het
Pdpk1 A G 17: 24,088,170 S269P probably damaging Het
Pip4k2c A T 10: 127,199,629 F347L probably benign Het
Platr26 T C 2: 71,723,312 noncoding transcript Het
Pnisr C T 4: 21,874,650 probably benign Het
Rab3gap1 T A 1: 127,930,384 probably null Het
Scn10a C T 9: 119,658,412 V619I probably benign Het
Slc38a11 T A 2: 65,316,856 T426S probably benign Het
Son T C 16: 91,657,277 S971P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem270 G T 5: 134,901,961 probably benign Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Zfp750 A T 11: 121,512,941 C369* probably null Het
Other mutations in Stk33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Stk33 APN 7 109329568 missense probably benign 0.02
IGL01558:Stk33 APN 7 109341284 intron probably benign
IGL01775:Stk33 APN 7 109312367 missense possibly damaging 0.92
R0052:Stk33 UTSW 7 109279669 missense possibly damaging 0.46
R0336:Stk33 UTSW 7 109331474 missense probably benign 0.01
R0394:Stk33 UTSW 7 109341489 missense probably benign
R0579:Stk33 UTSW 7 109325697 missense probably damaging 0.99
R0727:Stk33 UTSW 7 109321518 missense probably damaging 0.96
R1363:Stk33 UTSW 7 109279821 missense probably benign 0.06
R1574:Stk33 UTSW 7 109279820 missense probably benign 0.01
R1574:Stk33 UTSW 7 109279820 missense probably benign 0.01
R2153:Stk33 UTSW 7 109341320 missense probably benign 0.01
R4366:Stk33 UTSW 7 109279795 missense probably benign 0.06
R4896:Stk33 UTSW 7 109327595 missense probably damaging 1.00
R4994:Stk33 UTSW 7 109340398 missense probably benign 0.08
R5283:Stk33 UTSW 7 109336127 missense possibly damaging 0.69
R6339:Stk33 UTSW 7 109321465 missense probably benign 0.03
R6547:Stk33 UTSW 7 109320835 missense possibly damaging 0.73
R6717:Stk33 UTSW 7 109327616 missense possibly damaging 0.51
R6894:Stk33 UTSW 7 109336062 missense possibly damaging 0.70
Z1176:Stk33 UTSW 7 109336059 missense possibly damaging 0.51
Posted On2013-11-18