Incidental Mutation 'IGL02525:Stk32b'
ID 297044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk32b
Ensembl Gene ENSMUSG00000029123
Gene Name serine/threonine kinase 32B
Synonyms Stk32, 2510009F08Rik, YANK2, STKG6
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # IGL02525
Quality Score
Status
Chromosome 5
Chromosomal Location 37604169-37874503 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37688977 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 116 (V116M)
Ref Sequence ENSEMBL: ENSMUSP00000092432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094836]
AlphaFold Q9JJX8
Predicted Effect probably damaging
Transcript: ENSMUST00000094836
AA Change: V116M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123
AA Change: V116M

DomainStartEndE-ValueType
S_TKc 23 283 1.18e-84 SMART
low complexity region 323 336 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a serine-threonine protein kinase. Serine-threonine kinases transfer phosphate molecules to the oxygen atoms of serine and threonine. A genomic deletion affecting this gene has been associated with Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C T 8: 25,101,060 (GRCm39) V701I probably benign Het
Adam18 A G 8: 25,131,783 (GRCm39) probably benign Het
Adamts20 G T 15: 94,180,959 (GRCm39) probably null Het
Adgrf5 G T 17: 43,760,854 (GRCm39) V850F probably damaging Het
Agap2 T A 10: 126,919,070 (GRCm39) probably null Het
Ap4b1 G A 3: 103,720,164 (GRCm39) R62K probably damaging Het
Atp2a3 C A 11: 72,866,165 (GRCm39) H262N probably benign Het
Ccdc12 T A 9: 110,540,169 (GRCm39) D120E probably damaging Het
Ccdc22 A G X: 7,461,249 (GRCm39) S529P probably damaging Het
Cilk1 A G 9: 78,067,675 (GRCm39) K390E probably benign Het
Col1a2 A G 6: 4,531,355 (GRCm39) probably benign Het
Ddx59 A T 1: 136,344,743 (GRCm39) Q138L probably benign Het
Dlc1 A T 8: 37,046,800 (GRCm39) F1091L probably damaging Het
Dnah1 C T 14: 31,027,790 (GRCm39) V682M probably benign Het
Dock9 C T 14: 121,877,538 (GRCm39) D404N probably damaging Het
Eif2b4 A G 5: 31,346,962 (GRCm39) V402A probably damaging Het
Erlin1 T C 19: 44,027,634 (GRCm39) H268R probably benign Het
Ermard T C 17: 15,279,601 (GRCm39) probably benign Het
Fam43a A G 16: 30,419,596 (GRCm39) K60R probably benign Het
Frmd4b T A 6: 97,389,494 (GRCm39) D78V probably damaging Het
Gabrq A G X: 71,880,430 (GRCm39) T308A possibly damaging Het
Gipr A G 7: 18,893,690 (GRCm39) C328R possibly damaging Het
Gm17078 T C 14: 51,848,680 (GRCm39) N19S possibly damaging Het
Gm17541 T C 12: 4,739,907 (GRCm39) probably benign Het
Gm21759 T C 5: 8,229,967 (GRCm39) probably benign Het
Gm7964 A G 7: 83,405,250 (GRCm39) noncoding transcript Het
Gspt1 A G 16: 11,048,854 (GRCm39) V318A probably damaging Het
Gtf2ird2 A G 5: 134,245,319 (GRCm39) S526G probably benign Het
Hey2 A G 10: 30,718,643 (GRCm39) M1T probably null Het
Hipk3 T C 2: 104,301,757 (GRCm39) D145G probably damaging Het
Itgae A G 11: 73,021,777 (GRCm39) D886G probably damaging Het
Ktn1 T A 14: 47,962,200 (GRCm39) probably null Het
Med12l A G 3: 58,975,789 (GRCm39) K239R probably benign Het
Milr1 A T 11: 106,656,101 (GRCm39) M124L probably benign Het
Mon1b G T 8: 114,365,455 (GRCm39) R261L possibly damaging Het
Mterf1a G A 5: 3,941,583 (GRCm39) S95F probably benign Het
Myef2 C A 2: 124,955,978 (GRCm39) probably benign Het
Nfrkb T A 9: 31,325,812 (GRCm39) I1085N possibly damaging Het
Or13f5 A T 4: 52,825,616 (GRCm39) Y73F probably damaging Het
Or8d2 T A 9: 38,759,536 (GRCm39) M42K possibly damaging Het
Prodh G A 16: 17,890,332 (GRCm39) Q430* probably null Het
Pstk G T 7: 130,972,922 (GRCm39) R7L probably benign Het
Ptgr1 C A 4: 58,978,067 (GRCm39) E108D probably benign Het
Ptpn9 T A 9: 56,944,009 (GRCm39) Y294* probably null Het
Rnls C T 19: 33,115,614 (GRCm39) V153M possibly damaging Het
Ros1 T C 10: 51,992,138 (GRCm39) T1362A possibly damaging Het
Samt3 G A X: 85,090,527 (GRCm39) A140T possibly damaging Het
Sbpl T A 17: 24,173,837 (GRCm39) M16L unknown Het
Sephs1 G A 2: 4,911,407 (GRCm39) C327Y probably damaging Het
Slc13a1 A T 6: 24,137,135 (GRCm39) I93N probably damaging Het
Slc34a1 T C 13: 55,551,051 (GRCm39) probably benign Het
Slc7a9 T C 7: 35,152,860 (GRCm39) S93P probably damaging Het
Slx4 A G 16: 3,798,461 (GRCm39) S1444P probably damaging Het
Spmap2l T A 5: 77,164,400 (GRCm39) D134E probably benign Het
Supt5 A G 7: 28,018,372 (GRCm39) probably benign Het
Syne2 T A 12: 76,147,777 (GRCm39) S6439T probably damaging Het
Taar7d A G 10: 23,903,994 (GRCm39) D292G possibly damaging Het
Tal2 A T 4: 53,785,971 (GRCm39) I51F probably damaging Het
Tk2 A T 8: 104,970,032 (GRCm39) N77K probably benign Het
Tmprss3 T A 17: 31,413,865 (GRCm39) probably benign Het
Tnfrsf10b T C 14: 70,019,825 (GRCm39) M319T probably damaging Het
Trim24 A G 6: 37,922,653 (GRCm39) R417G probably damaging Het
Ttn C A 2: 76,594,658 (GRCm39) G18717* probably null Het
Vmn2r102 A G 17: 19,901,447 (GRCm39) T525A probably benign Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wnt3 C T 11: 103,703,296 (GRCm39) R260W probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zbtb5 T C 4: 44,994,731 (GRCm39) T218A probably benign Het
Znfx1 C T 2: 166,879,457 (GRCm39) E776K probably benign Het
Other mutations in Stk32b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Stk32b APN 5 37,656,374 (GRCm39) splice site probably benign
IGL02946:Stk32b APN 5 37,688,883 (GRCm39) splice site probably benign
IGL03277:Stk32b APN 5 37,786,320 (GRCm39) missense probably damaging 0.99
flank UTSW 5 37,624,125 (GRCm39) missense probably damaging 1.00
H8441:Stk32b UTSW 5 37,614,578 (GRCm39) missense probably damaging 1.00
R0042:Stk32b UTSW 5 37,874,092 (GRCm39) missense probably benign 0.09
R0042:Stk32b UTSW 5 37,874,092 (GRCm39) missense probably benign 0.09
R0051:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R0051:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R0062:Stk32b UTSW 5 37,618,792 (GRCm39) missense probably damaging 1.00
R0062:Stk32b UTSW 5 37,618,792 (GRCm39) missense probably damaging 1.00
R0601:Stk32b UTSW 5 37,688,910 (GRCm39) missense probably damaging 1.00
R0879:Stk32b UTSW 5 37,616,940 (GRCm39) splice site probably benign
R1812:Stk32b UTSW 5 37,624,102 (GRCm39) missense probably damaging 1.00
R1882:Stk32b UTSW 5 37,689,031 (GRCm39) missense possibly damaging 0.91
R1982:Stk32b UTSW 5 37,806,458 (GRCm39) missense probably damaging 0.99
R3899:Stk32b UTSW 5 37,614,498 (GRCm39) missense probably damaging 1.00
R4724:Stk32b UTSW 5 37,612,278 (GRCm39) critical splice donor site probably null
R4885:Stk32b UTSW 5 37,624,141 (GRCm39) missense probably damaging 1.00
R5531:Stk32b UTSW 5 37,617,078 (GRCm39) splice site probably null
R5629:Stk32b UTSW 5 37,614,576 (GRCm39) missense probably damaging 1.00
R6042:Stk32b UTSW 5 37,806,458 (GRCm39) missense probably damaging 0.99
R6610:Stk32b UTSW 5 37,606,022 (GRCm39) missense probably benign 0.04
R6864:Stk32b UTSW 5 37,606,149 (GRCm39) splice site probably null
R6879:Stk32b UTSW 5 37,647,867 (GRCm39) missense possibly damaging 0.77
R7186:Stk32b UTSW 5 37,624,125 (GRCm39) missense probably damaging 1.00
R8317:Stk32b UTSW 5 37,612,319 (GRCm39) missense probably damaging 0.99
R8676:Stk32b UTSW 5 37,614,503 (GRCm39) missense probably benign 0.00
R8795:Stk32b UTSW 5 37,806,483 (GRCm39) missense probably damaging 0.98
R8948:Stk32b UTSW 5 37,612,341 (GRCm39) missense possibly damaging 0.87
R9192:Stk32b UTSW 5 37,786,344 (GRCm39) missense probably damaging 1.00
R9776:Stk32b UTSW 5 37,617,001 (GRCm39) missense probably benign
V1024:Stk32b UTSW 5 37,614,578 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16