Incidental Mutation 'IGL00813:Stk32a'
ID14273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stk32a
Ensembl Gene ENSMUSG00000039954
Gene Nameserine/threonine kinase 32A
SynonymsYANK1, A930015B13Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL00813
Quality Score
Status
Chromosome18
Chromosomal Location43207697-43317481 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 43310520 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 254 (V254E)
Ref Sequence ENSEMBL: ENSMUSP00000038471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045477]
Predicted Effect probably benign
Transcript: ENSMUST00000045477
AA Change: V254E

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000038471
Gene: ENSMUSG00000039954
AA Change: V254E

DomainStartEndE-ValueType
S_TKc 23 281 9.58e-85 SMART
low complexity region 318 339 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C A 1: 71,353,762 probably null Het
Aco1 T C 4: 40,180,290 probably null Het
Bloc1s5 T C 13: 38,619,182 N76S probably damaging Het
Cyp3a44 A T 5: 145,774,347 *505R probably null Het
Epor T C 9: 21,960,591 T253A possibly damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gm884 A C 11: 103,614,498 F2215V probably benign Het
Hecw1 T A 13: 14,278,376 probably null Het
Hhla1 A T 15: 65,941,961 V209E probably damaging Het
Ino80d G A 1: 63,093,303 P67L probably damaging Het
Lysmd3 C A 13: 81,665,242 N76K probably damaging Het
Map10 G A 8: 125,671,932 R688Q probably benign Het
Mars A T 10: 127,300,047 M554K probably damaging Het
Mgat5 G A 1: 127,384,806 M227I probably benign Het
Nup210l A G 3: 90,132,418 I389V probably benign Het
Ppp1r16b A G 2: 158,756,965 K315R probably damaging Het
Rae1 A G 2: 173,006,933 D114G probably damaging Het
Rbms1 T C 2: 60,797,705 K64E probably damaging Het
Shox2 C A 3: 66,975,444 Q105H probably damaging Het
Simc1 C A 13: 54,546,986 F293L probably damaging Het
Slc11a1 A G 1: 74,383,480 I289V probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Them5 A G 3: 94,343,288 K53E probably damaging Het
Tmem67 T C 4: 12,058,587 probably benign Het
Wdr7 T A 18: 63,735,604 L248Q possibly damaging Het
Other mutations in Stk32a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Stk32a APN 18 43310445 missense possibly damaging 0.46
IGL00704:Stk32a APN 18 43261249 missense probably damaging 1.00
IGL02121:Stk32a APN 18 43313507 missense probably benign
IGL02407:Stk32a APN 18 43297511 missense probably benign 0.00
IGL02957:Stk32a APN 18 43311992 missense probably benign
R0004:Stk32a UTSW 18 43305056 missense probably damaging 1.00
R0047:Stk32a UTSW 18 43313378 splice site probably benign
R0047:Stk32a UTSW 18 43313378 splice site probably benign
R0288:Stk32a UTSW 18 43304995 splice site probably null
R0330:Stk32a UTSW 18 43313501 missense probably benign 0.15
R1337:Stk32a UTSW 18 43261349 missense probably benign 0.00
R1559:Stk32a UTSW 18 43243084 missense probably benign 0.32
R1695:Stk32a UTSW 18 43313420 nonsense probably null
R1874:Stk32a UTSW 18 43261316 missense probably damaging 1.00
R1954:Stk32a UTSW 18 43212025 missense probably benign 0.45
R4529:Stk32a UTSW 18 43242979 missense possibly damaging 0.83
R4980:Stk32a UTSW 18 43314048 missense probably benign 0.01
R5124:Stk32a UTSW 18 43305017 missense probably benign 0.00
R5751:Stk32a UTSW 18 43305020 missense possibly damaging 0.74
R5822:Stk32a UTSW 18 43313487 missense probably benign 0.00
R5863:Stk32a UTSW 18 43315144 missense probably benign 0.00
R6167:Stk32a UTSW 18 43313409 missense probably damaging 1.00
R6355:Stk32a UTSW 18 43297594 splice site probably null
R6731:Stk32a UTSW 18 43305078 missense probably damaging 1.00
R7162:Stk32a UTSW 18 43297584 nonsense probably null
R8001:Stk32a UTSW 18 43315144 missense possibly damaging 0.62
R8022:Stk32a UTSW 18 43315101 nonsense probably null
Posted On2012-12-06