Incidental Mutation 'IGL02609:Stk35'
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ID300418
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk35
Ensembl Gene ENSMUSG00000037885
Gene Nameserine/threonine kinase 35
Synonyms1700054C12Rik, CLIK1, CLP-36 interacting kinase
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02609
Quality Score
Status
Chromosome2
Chromosomal Location129800517-129832287 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 129801801 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 235 (V235A)
Ref Sequence ENSEMBL: ENSMUSP00000132862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165413] [ENSMUST00000166282]
Predicted Effect probably damaging
Transcript: ENSMUST00000165413
AA Change: V235A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126541
Gene: ENSMUSG00000037885
AA Change: V235A

DomainStartEndE-ValueType
low complexity region 51 69 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
Pfam:Pkinase_Tyr 207 295 2e-6 PFAM
Pfam:Pkinase 207 531 8.6e-51 PFAM
Pfam:Pkinase_Tyr 304 532 2.1e-23 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000166282
AA Change: V235A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132862
Gene: ENSMUSG00000037885
AA Change: V235A

DomainStartEndE-ValueType
low complexity region 51 69 N/A INTRINSIC
low complexity region 115 137 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
Pfam:Pkinase_Tyr 207 300 5.9e-7 PFAM
Pfam:Pkinase 207 311 1e-9 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a kinase that is predominantly found in the nucleus. However, it can interact with PDLIM1/CLP-36 in the cytoplasm and localize to actin stress fibers. The encoded protein may be a regulator of actin stress fibers in nonmuscle cells. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik A T 11: 58,612,616 C29S probably damaging Het
A930011G23Rik A G 5: 99,233,995 probably benign Het
Adcy10 T G 1: 165,538,475 Y520* probably null Het
Agrn A T 4: 156,175,223 probably benign Het
AI661453 A T 17: 47,468,372 probably benign Het
Arhgap6 A G X: 169,178,066 probably benign Het
Asxl2 T C 12: 3,500,018 S587P probably damaging Het
B3gntl1 A G 11: 121,644,601 probably benign Het
Bahcc1 T C 11: 120,289,398 F2527L possibly damaging Het
Baz2b T A 2: 59,917,369 M1317L possibly damaging Het
Bcas3 A T 11: 85,457,894 K204I probably damaging Het
C1qtnf1 T C 11: 118,448,004 F167L probably damaging Het
Cfap58 C T 19: 47,975,502 T523M possibly damaging Het
Ddb1 T A 19: 10,622,466 C680S possibly damaging Het
Eef1d T C 15: 75,896,313 Q200R probably null Het
Gm10717 A T 9: 3,026,287 Y195F probably damaging Het
Gm28557 T A 13: 67,071,019 K214* probably null Het
Gm438 T A 4: 144,779,737 D128V probably damaging Het
Gm8229 A C 14: 44,366,625 E90D probably benign Het
Hhla1 T C 15: 65,930,614 probably benign Het
Hivep1 C T 13: 42,155,654 H457Y probably damaging Het
Htr2c T C X: 147,193,760 probably benign Het
Ifi44 A T 3: 151,732,497 S384R probably damaging Het
Impad1 T A 4: 4,767,763 R338* probably null Het
Kirrel2 T C 7: 30,448,340 T628A probably benign Het
Kmt2d T C 15: 98,851,793 probably benign Het
Larp4b T A 13: 9,170,680 I655N probably damaging Het
Lrrd1 G A 5: 3,858,803 V692I probably benign Het
Mum1 A T 10: 80,230,083 E57V probably damaging Het
Nes T C 3: 87,977,221 I929T probably benign Het
Ogfr T C 2: 180,592,515 probably benign Het
Rfx2 G T 17: 56,805,404 P43Q probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sh3tc1 T C 5: 35,707,172 K495R probably damaging Het
Slit1 A T 19: 41,602,304 C1310S probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Syde2 T G 3: 145,998,520 V142G probably benign Het
Tgfb3 A G 12: 86,077,839 F32L probably benign Het
Tmem35a T C X: 134,304,697 F121L probably damaging Het
Trp53bp2 T A 1: 182,453,724 D963E probably benign Het
Vmn1r26 A G 6: 58,008,875 S110P probably damaging Het
Vpreb2 T C 16: 17,980,694 probably benign Het
Xrn2 A T 2: 147,050,025 T721S probably benign Het
Other mutations in Stk35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Stk35 APN 2 129801992 missense probably damaging 1.00
fingernails UTSW 2 129810935 missense probably damaging 1.00
skinned UTSW 2 129811235 intron probably benign
R0045:Stk35 UTSW 2 129800568 nonsense probably null
R0306:Stk35 UTSW 2 129801763 nonsense probably null
R0784:Stk35 UTSW 2 129810802 nonsense probably null
R1536:Stk35 UTSW 2 129811235 intron probably benign
R2256:Stk35 UTSW 2 129810507 nonsense probably null
R2507:Stk35 UTSW 2 129801515 missense probably damaging 0.97
R2508:Stk35 UTSW 2 129801515 missense probably damaging 0.97
R3848:Stk35 UTSW 2 129800736 missense probably benign 0.13
R3872:Stk35 UTSW 2 129810575 missense possibly damaging 0.82
R4466:Stk35 UTSW 2 129801516 missense probably damaging 0.99
R5144:Stk35 UTSW 2 129810935 missense probably damaging 1.00
R6267:Stk35 UTSW 2 129810888 nonsense probably null
R6296:Stk35 UTSW 2 129810888 nonsense probably null
R6480:Stk35 UTSW 2 129810687 missense possibly damaging 0.95
R6807:Stk35 UTSW 2 129801653 missense probably damaging 0.97
R7203:Stk35 UTSW 2 129801593 missense probably benign
R7476:Stk35 UTSW 2 129810725 missense probably damaging 1.00
R8505:Stk35 UTSW 2 129801729 missense probably damaging 0.99
Posted On2015-04-16