Incidental Mutation 'R6115:Stk32c'
ID 485079
Institutional Source Beutler Lab
Gene Symbol Stk32c
Ensembl Gene ENSMUSG00000015981
Gene Name serine/threonine kinase 32C
Synonyms Pkek, YANK3
MMRRC Submission 044264-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6115 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 138683554-138793223 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to T at 138700628 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 200 (Y200*)
Ref Sequence ENSEMBL: ENSMUSP00000126638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000016125] [ENSMUST00000165870]
AlphaFold Q8QZV4
Predicted Effect probably null
Transcript: ENSMUST00000016125
AA Change: Y318*
SMART Domains Protein: ENSMUSP00000016125
Gene: ENSMUSG00000015981
AA Change: Y318*

DomainStartEndE-ValueType
low complexity region 2 29 N/A INTRINSIC
low complexity region 32 48 N/A INTRINSIC
low complexity region 62 80 N/A INTRINSIC
S_TKc 94 354 9.16e-82 SMART
low complexity region 398 407 N/A INTRINSIC
low complexity region 408 418 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000165870
AA Change: Y200*
SMART Domains Protein: ENSMUSP00000126638
Gene: ENSMUSG00000015981
AA Change: Y200*

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 232 1.2e-30 PFAM
Pfam:Pkinase 1 235 1.5e-51 PFAM
Pfam:Kinase-like 12 223 6.2e-13 PFAM
low complexity region 280 289 N/A INTRINSIC
low complexity region 290 300 N/A INTRINSIC
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 98% (51/52)
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 member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik C G 5: 64,055,317 (GRCm39) Q18E probably damaging Het
Acsf3 T A 8: 123,517,411 (GRCm39) H402Q probably damaging Het
Adam34 T G 8: 44,105,098 (GRCm39) Q182H probably benign Het
Alx1 G A 10: 102,864,304 (GRCm39) P55L possibly damaging Het
Arhgef38 A T 3: 132,838,374 (GRCm39) probably null Het
Ccdc102a T C 8: 95,629,999 (GRCm39) N514S probably benign Het
Corin T A 5: 72,518,072 (GRCm39) T317S probably damaging Het
Ctnna2 A G 6: 77,613,822 (GRCm39) V256A probably benign Het
Dhx29 A T 13: 113,089,335 (GRCm39) probably null Het
Dnah2 C A 11: 69,337,475 (GRCm39) D3209Y probably damaging Het
Dnhd1 A G 7: 105,363,194 (GRCm39) T3919A probably benign Het
F7 T A 8: 13,083,958 (GRCm39) N214K probably benign Het
Fam3b T G 16: 97,276,568 (GRCm39) Q177H possibly damaging Het
Fign T C 2: 63,809,654 (GRCm39) I539V probably benign Het
Hc T G 2: 34,903,050 (GRCm39) D1067A probably damaging Het
Herc6 A G 6: 57,560,191 (GRCm39) D77G probably benign Het
Hmg20a A T 9: 56,397,116 (GRCm39) E305D possibly damaging Het
Il16 G A 7: 83,301,775 (GRCm39) Q116* probably null Het
Kif13a T A 13: 46,954,789 (GRCm39) I648F probably damaging Het
Lactb G T 9: 66,874,969 (GRCm39) N374K possibly damaging Het
Lmx1b T C 2: 33,459,118 (GRCm39) D145G probably damaging Het
Lrfn4 T C 19: 4,663,937 (GRCm39) D199G probably damaging Het
Lrrc49 A T 9: 60,522,444 (GRCm39) V307E possibly damaging Het
Magi1 A C 6: 93,685,051 (GRCm39) S776A possibly damaging Het
Mthfsl T A 9: 88,570,807 (GRCm39) *147L probably null Het
Nsmce4a G T 7: 130,148,722 (GRCm39) Q95K probably benign Het
Or1j15 A T 2: 36,458,963 (GRCm39) M118L probably damaging Het
Or4k37 A G 2: 111,159,558 (GRCm39) T265A probably benign Het
Or4k49 A T 2: 111,494,987 (GRCm39) K139* probably null Het
Or5b24 T C 19: 12,912,948 (GRCm39) V282A possibly damaging Het
Pcdha7 A G 18: 37,107,788 (GRCm39) E271G probably damaging Het
Pcdhga8 T A 18: 37,860,596 (GRCm39) F551I possibly damaging Het
Prpf31 T C 7: 3,642,705 (GRCm39) probably null Het
Qrfpr C T 3: 36,236,742 (GRCm39) V220I possibly damaging Het
Rnf170 T C 8: 26,615,994 (GRCm39) F95S possibly damaging Het
Scn9a T A 2: 66,393,973 (GRCm39) Y200F possibly damaging Het
Sfpq A T 4: 126,915,141 (GRCm39) probably null Het
Slc9c1 A T 16: 45,376,132 (GRCm39) Y406F probably damaging Het
Svil A G 18: 5,108,675 (GRCm39) R1938G probably damaging Het
Sycp2 G C 2: 177,990,038 (GRCm39) R1403G probably benign Het
Tm9sf4 T C 2: 153,024,409 (GRCm39) probably null Het
Tmc3 A T 7: 83,264,170 (GRCm39) M633L possibly damaging Het
Tmem163 T C 1: 127,605,185 (GRCm39) D61G possibly damaging Het
Unc5b C A 10: 60,613,325 (GRCm39) A304S probably benign Het
Vmn2r106 G A 17: 20,488,638 (GRCm39) P587L probably benign Het
Vmn2r18 A T 5: 151,508,462 (GRCm39) S221T possibly damaging Het
Vmn2r85 T G 10: 130,258,672 (GRCm39) Y461S probably damaging Het
Yod1 T C 1: 130,646,800 (GRCm39) F226L possibly damaging Het
Zbtb4 T C 11: 69,667,148 (GRCm39) I151T probably damaging Het
Zfp110 A T 7: 12,583,701 (GRCm39) Q783L probably damaging Het
Other mutations in Stk32c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02003:Stk32c APN 7 138,768,069 (GRCm39) missense possibly damaging 0.47
IGL02559:Stk32c APN 7 138,700,606 (GRCm39) missense probably benign 0.00
IGL02805:Stk32c APN 7 138,701,762 (GRCm39) missense probably damaging 1.00
R0531:Stk32c UTSW 7 138,700,636 (GRCm39) missense probably damaging 0.97
R0622:Stk32c UTSW 7 138,768,026 (GRCm39) missense probably benign 0.00
R1140:Stk32c UTSW 7 138,705,095 (GRCm39) missense probably damaging 0.99
R1473:Stk32c UTSW 7 138,705,095 (GRCm39) missense probably damaging 0.99
R1589:Stk32c UTSW 7 138,698,931 (GRCm39) critical splice donor site probably null
R1697:Stk32c UTSW 7 138,701,740 (GRCm39) missense probably benign 0.25
R1855:Stk32c UTSW 7 138,701,363 (GRCm39) missense probably damaging 0.97
R4290:Stk32c UTSW 7 138,700,704 (GRCm39) critical splice acceptor site probably null
R4293:Stk32c UTSW 7 138,700,704 (GRCm39) critical splice acceptor site probably null
R4295:Stk32c UTSW 7 138,700,704 (GRCm39) critical splice acceptor site probably null
R5323:Stk32c UTSW 7 138,699,276 (GRCm39) missense probably benign 0.07
R5854:Stk32c UTSW 7 138,768,195 (GRCm39) intron probably benign
R5907:Stk32c UTSW 7 138,700,590 (GRCm39) missense probably benign 0.32
R6117:Stk32c UTSW 7 138,702,839 (GRCm39) nonsense probably null
R6176:Stk32c UTSW 7 138,700,691 (GRCm39) missense probably benign 0.02
R6460:Stk32c UTSW 7 138,685,190 (GRCm39) missense probably damaging 1.00
R6695:Stk32c UTSW 7 138,702,880 (GRCm39) missense probably damaging 1.00
R6745:Stk32c UTSW 7 138,702,809 (GRCm39) missense probably damaging 0.99
R7177:Stk32c UTSW 7 138,684,218 (GRCm39) missense possibly damaging 0.62
R7676:Stk32c UTSW 7 138,685,220 (GRCm39) missense possibly damaging 0.87
R7721:Stk32c UTSW 7 138,768,069 (GRCm39) missense possibly damaging 0.47
R8977:Stk32c UTSW 7 138,705,161 (GRCm39) missense possibly damaging 0.69
R9004:Stk32c UTSW 7 138,702,859 (GRCm39) missense probably damaging 1.00
R9117:Stk32c UTSW 7 138,768,141 (GRCm39) missense unknown
R9481:Stk32c UTSW 7 138,768,173 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GTAGCAGATTCCTTCTCTCTGAGG -3'
(R):5'- ATCAGGTGGCTGCTGTTCTC -3'

Sequencing Primer
(F):5'- CACACAGGGTCTCAGAGTAGTTGC -3'
(R):5'- CTGCTGTTCTCAGAGCCTGG -3'
Posted On 2017-08-16