Incidental Mutation 'IGL02946:Stk32b'
ID 364758
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 # IGL02946
Quality Score
Status
Chromosome 5
Chromosomal Location 37604169-37874503 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 37688883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000092432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094836]
AlphaFold Q9JJX8
Predicted Effect probably benign
Transcript: ENSMUST00000094836
SMART Domains Protein: ENSMUSP00000092432
Gene: ENSMUSG00000029123

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,919,041 (GRCm39) probably benign Het
Actr3b T C 5: 26,053,481 (GRCm39) I270T possibly damaging Het
Adgrf2 T C 17: 43,021,384 (GRCm39) Y480C probably damaging Het
Arhgap27 T C 11: 103,229,174 (GRCm39) T514A probably damaging Het
BC031181 C T 18: 75,141,736 (GRCm39) probably benign Het
Cckbr C T 7: 105,083,238 (GRCm39) A147V probably damaging Het
Ccm2 G A 11: 6,546,195 (GRCm39) R335H probably damaging Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Crabp1 T C 9: 54,672,232 (GRCm39) F16S possibly damaging Het
Crmp1 C T 5: 37,441,424 (GRCm39) A502V probably damaging Het
Ehhadh A T 16: 21,581,672 (GRCm39) V440D probably damaging Het
Galnt3 T A 2: 65,925,562 (GRCm39) I392L probably damaging Het
Gm12689 T A 4: 99,184,490 (GRCm39) N114K unknown Het
Hspa2 A G 12: 76,451,947 (GRCm39) T214A probably damaging Het
Itga7 T C 10: 128,769,952 (GRCm39) I32T probably benign Het
Itgal A G 7: 126,913,540 (GRCm39) S682G probably damaging Het
Kctd1 C T 18: 15,107,036 (GRCm39) probably null Het
Lrp1b T A 2: 41,202,571 (GRCm39) D439V probably damaging Het
Mdn1 A G 4: 32,734,366 (GRCm39) K3258E probably damaging Het
Mgat4c T C 10: 102,225,114 (GRCm39) S443P probably benign Het
Mylk G A 16: 34,742,158 (GRCm39) G890E probably benign Het
Mylk2 T A 2: 152,761,130 (GRCm39) L446* probably null Het
Niban1 A T 1: 151,525,176 (GRCm39) I194F probably damaging Het
Or2t26 T G 11: 49,039,719 (GRCm39) F212V probably damaging Het
Pi4k2b T C 5: 52,910,549 (GRCm39) F278L probably damaging Het
Pitpnm3 A G 11: 71,983,378 (GRCm39) S84P probably benign Het
Plxna2 T C 1: 194,431,617 (GRCm39) probably benign Het
Prr5l C A 2: 101,602,529 (GRCm39) probably null Het
Ptprs T C 17: 56,731,032 (GRCm39) T719A probably benign Het
Rasa3 T C 8: 13,648,280 (GRCm39) H128R probably benign Het
Rhox13 A G X: 37,218,652 (GRCm39) K205E probably damaging Het
Rif1 C A 2: 52,000,137 (GRCm39) S1197* probably null Het
Sgta A G 10: 80,885,612 (GRCm39) probably benign Het
Slc25a5 T A X: 36,061,506 (GRCm39) M239K probably damaging Het
Stil T A 4: 114,887,110 (GRCm39) H734Q probably benign Het
Ubr4 T G 4: 139,152,606 (GRCm39) F1999C probably damaging Het
Wfdc2 A C 2: 164,406,009 (GRCm39) T86P probably benign Het
Zfp407 T C 18: 84,578,834 (GRCm39) S760G probably damaging Het
Zfp668 A T 7: 127,465,690 (GRCm39) L498Q possibly damaging Het
Other mutations in Stk32b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02166:Stk32b APN 5 37,656,374 (GRCm39) splice site probably benign
IGL02525:Stk32b APN 5 37,688,977 (GRCm39) missense probably damaging 1.00
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 2015-12-18