Incidental Mutation 'IGL02166:Stk32b'
ID 282731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk32b
Ensembl Gene ENSMUSG00000029123
Gene Name serine/threonine kinase 32B
Synonyms YANK2, 2510009F08Rik, Stk32, STKG6
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL02166
Quality Score
Status
Chromosome 5
Chromosomal Location 37446825-37717171 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 37499030 bp (GRCm38)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,015,453 H96R probably benign Het
Brd8 C T 18: 34,602,727 S899N probably damaging Het
Cdh8 T C 8: 99,190,451 D344G probably damaging Het
Cltc T C 11: 86,704,088 I1399V probably benign Het
Col4a1 A T 8: 11,244,509 probably benign Het
Crtc3 C T 7: 80,677,399 G60R probably damaging Het
Dscaml1 G A 9: 45,683,701 V701M probably damaging Het
Eif3b T A 5: 140,439,950 C632S possibly damaging Het
Ephb3 G A 16: 21,220,749 R417Q probably damaging Het
Fpr3 T C 17: 17,970,464 probably benign Het
Hpdl A G 4: 116,820,952 V104A probably damaging Het
Ighv1-55 T C 12: 115,208,220 S76G probably benign Het
Ikbip T C 10: 91,095,790 S99P probably damaging Het
Lnpk T C 2: 74,529,717 E318G probably damaging Het
Lrrc66 G A 5: 73,607,291 T803M probably damaging Het
Narfl A G 17: 25,780,320 D236G possibly damaging Het
Nxf2 C A X: 134,957,129 W89L possibly damaging Het
Olfr1176 A T 2: 88,339,678 I38F probably damaging Het
Olfr1381 A G 11: 49,551,930 Y61C probably damaging Het
Olfr803 T A 10: 129,691,913 I43F probably benign Het
Osbp2 A T 11: 3,717,983 C5S probably damaging Het
Ovol2 T C 2: 144,305,730 N200S possibly damaging Het
Ppp4r1 A G 17: 65,813,492 D207G probably benign Het
Prdm11 C T 2: 93,012,863 V84M probably damaging Het
Rspo3 T A 10: 29,535,279 E17V possibly damaging Het
Scarf2 A G 16: 17,803,756 N357D probably damaging Het
Scn9a A T 2: 66,493,103 D1447E possibly damaging Het
Sdad1 G A 5: 92,291,762 T433I probably benign Het
Seh1l A G 18: 67,785,023 N149S probably damaging Het
Sigirr T C 7: 141,092,227 I268M probably benign Het
Slc35d2 A G 13: 64,098,348 F282S probably damaging Het
Slc4a1 A T 11: 102,354,333 M596K probably damaging Het
Spta1 G A 1: 174,190,231 E494K probably damaging Het
Tex13b T C X: 140,812,726 E122G probably damaging Het
Tmem35a A G X: 134,304,608 N91S probably damaging Het
Tmem67 A G 4: 12,047,313 V841A possibly damaging Het
Trdv2-1 A G 14: 53,946,611 D100G probably benign Het
Tshz3 T C 7: 36,768,921 S112P probably benign Het
Tssc4 T C 7: 143,070,201 M82T probably benign Het
Ttn A G 2: 76,732,379 S28744P probably damaging Het
Unc45b C T 11: 82,940,181 probably benign Het
Vim T C 2: 13,574,594 S55P probably damaging Het
Zmat5 T A 11: 4,737,363 Y139N possibly damaging Het
Zswim2 G A 2: 83,915,406 Q563* probably null Het
Other mutations in Stk32b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02525:Stk32b APN 5 37531633 missense probably damaging 1.00
IGL02946:Stk32b APN 5 37531539 splice site probably benign
IGL03277:Stk32b APN 5 37628976 missense probably damaging 0.99
flank UTSW 5 37466781 missense probably damaging 1.00
H8441:Stk32b UTSW 5 37457234 missense probably damaging 1.00
R0042:Stk32b UTSW 5 37716748 missense probably benign 0.09
R0042:Stk32b UTSW 5 37716748 missense probably benign 0.09
R0051:Stk32b UTSW 5 37459596 splice site probably benign
R0051:Stk32b UTSW 5 37459596 splice site probably benign
R0062:Stk32b UTSW 5 37461448 missense probably damaging 1.00
R0062:Stk32b UTSW 5 37461448 missense probably damaging 1.00
R0601:Stk32b UTSW 5 37531566 missense probably damaging 1.00
R0879:Stk32b UTSW 5 37459596 splice site probably benign
R1812:Stk32b UTSW 5 37466758 missense probably damaging 1.00
R1882:Stk32b UTSW 5 37531687 missense possibly damaging 0.91
R1982:Stk32b UTSW 5 37649114 missense probably damaging 0.99
R3899:Stk32b UTSW 5 37457154 missense probably damaging 1.00
R4724:Stk32b UTSW 5 37454934 critical splice donor site probably null
R4885:Stk32b UTSW 5 37466797 missense probably damaging 1.00
R5531:Stk32b UTSW 5 37459734 splice site probably null
R5629:Stk32b UTSW 5 37457232 missense probably damaging 1.00
R6042:Stk32b UTSW 5 37649114 missense probably damaging 0.99
R6610:Stk32b UTSW 5 37448678 missense probably benign 0.04
R6864:Stk32b UTSW 5 37448805 splice site probably null
R6879:Stk32b UTSW 5 37490523 missense possibly damaging 0.77
R7186:Stk32b UTSW 5 37466781 missense probably damaging 1.00
R8317:Stk32b UTSW 5 37454975 missense probably damaging 0.99
R8676:Stk32b UTSW 5 37457159 missense probably benign 0.00
R8795:Stk32b UTSW 5 37649139 missense probably damaging 0.98
R8948:Stk32b UTSW 5 37454997 missense possibly damaging 0.87
R9192:Stk32b UTSW 5 37629000 missense probably damaging 1.00
V1024:Stk32b UTSW 5 37457234 missense probably damaging 1.00
Posted On 2015-04-16