Incidental Mutation 'IGL01775:Stk33'
ID154090
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: 0.078) question?
Stock #IGL01775
Quality Score
Status
Chromosome7
Chromosomal Location109279223-109439081 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109312367 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 396 (E396D)
Ref Sequence ENSEMBL: ENSMUSP00000112515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090414] [ENSMUST00000106745] [ENSMUST00000121378] [ENSMUST00000121748] [ENSMUST00000141210]
Predicted Effect possibly damaging
Transcript: ENSMUST00000090414
AA Change: E396D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087897
Gene: ENSMUSG00000031027
AA Change: E396D

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 possibly damaging
Transcript: ENSMUST00000106745
AA Change: E396D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102356
Gene: ENSMUSG00000031027
AA Change: E396D

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 possibly damaging
Transcript: ENSMUST00000121378
AA Change: E273D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112560
Gene: ENSMUSG00000031027
AA Change: E273D

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 possibly damaging
Transcript: ENSMUST00000121748
AA Change: E396D

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000112515
Gene: ENSMUSG00000031027
AA Change: E396D

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 unknown
Transcript: ENSMUST00000141210
AA Change: E4D
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430F08Rik A T 10: 100,583,937 L94Q probably benign Het
Aatf A T 11: 84,471,137 L333Q probably damaging Het
Ablim3 A T 18: 61,816,918 probably benign Het
Acsl6 T C 11: 54,346,000 probably benign Het
Adra1b T A 11: 43,835,301 D263V probably damaging Het
Aicda G A 6: 122,561,053 V57M probably damaging Het
C2cd3 T C 7: 100,443,431 W494R probably damaging Het
Ccnb1 T C 13: 100,783,509 S165G probably benign Het
Cnot4 A T 6: 35,069,476 probably benign Het
Dph6 A T 2: 114,518,295 probably benign Het
Emc3 A G 6: 113,531,335 S50P possibly damaging Het
Fbxo45 A C 16: 32,233,275 probably null Het
Gm14496 A T 2: 182,000,332 T599S probably benign Het
Gspt1 T C 16: 11,223,295 I535V possibly damaging Het
Hemk1 A G 9: 107,330,796 I215T possibly damaging Het
Ighm A T 12: 113,422,467 C88S unknown Het
Itih2 A C 2: 10,129,286 D38E probably benign Het
Lat C A 7: 126,368,089 V113L probably benign Het
Micalcl T A 7: 112,382,062 F480L possibly damaging Het
Mki67 A T 7: 135,698,276 S1676R possibly damaging Het
Msh2 A T 17: 87,682,646 N254I possibly damaging Het
Naglu T C 11: 101,074,095 M336T probably damaging Het
Nhsl1 C T 10: 18,524,474 R483C probably damaging Het
Nsmaf C T 4: 6,396,791 E899K possibly damaging Het
Nup85 T C 11: 115,580,767 Y181H probably damaging Het
Olfr1030 T C 2: 85,984,670 S277P probably damaging Het
Olfr666 A T 7: 104,893,292 M112K possibly damaging Het
Olfr855 A T 9: 19,584,705 Q56L probably benign Het
Olfr937 C A 9: 39,060,467 L66F probably damaging Het
P2rx3 C T 2: 85,024,157 R91H probably benign Het
Plag1 T C 4: 3,904,513 D226G probably damaging Het
Pofut1 T A 2: 153,248,473 F96I probably damaging Het
Prim1 A G 10: 128,029,243 N399S probably benign Het
Prkd3 G T 17: 79,012,760 T51K probably damaging Het
Ptprc T C 1: 138,064,759 Y1210C probably damaging Het
Rbm43 A T 2: 51,925,448 S254T probably damaging Het
Retsat G A 6: 72,607,317 R528Q probably damaging Het
Rps8 C A 4: 117,155,052 R56L probably benign Het
Samhd1 A T 2: 157,114,330 probably benign Het
Sfxn1 T C 13: 54,105,739 probably benign Het
Tcaim T C 9: 122,818,825 V135A probably damaging Het
Thsd7b A G 1: 129,628,939 D421G probably damaging Het
Unc80 A G 1: 66,601,056 D1374G possibly damaging Het
Wnk2 C A 13: 49,071,110 D232Y probably damaging Het
Zfand1 T C 3: 10,344,866 T145A probably damaging Het
Other mutations in Stk33
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01137:Stk33 APN 7 109329568 missense probably benign 0.02
IGL01467:Stk33 APN 7 109329589 missense probably damaging 0.99
IGL01558:Stk33 APN 7 109341284 intron probably benign
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 On2014-02-04