Incidental Mutation 'R0076:Pou6f1'
ID16351
Institutional Source Beutler Lab
Gene Symbol Pou6f1
Ensembl Gene ENSMUSG00000009739
Gene NamePOU domain, class 6, transcription factor 1
Synonymscns-1, Emb, 2310038G18Rik
MMRRC Submission 038363-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.472) question?
Stock #R0076 (G1)
Quality Score
Status Validated
Chromosome15
Chromosomal Location100575318-100599984 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 100587836 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 106 (Q106*)
Ref Sequence ENSEMBL: ENSMUSP00000135415 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058274] [ENSMUST00000073837] [ENSMUST00000176271] [ENSMUST00000176300] [ENSMUST00000177202]
Predicted Effect probably null
Transcript: ENSMUST00000058274
AA Change: Q106*
SMART Domains Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739
AA Change: Q106*

DomainStartEndE-ValueType
low complexity region 113 132 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000073837
AA Change: S104L

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: S104L

DomainStartEndE-ValueType
low complexity region 174 232 N/A INTRINSIC
POU 414 488 6.32e-44 SMART
HOX 509 571 7.03e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176140
SMART Domains Protein: ENSMUSP00000135670
Gene: ENSMUSG00000009739

DomainStartEndE-ValueType
POU 139 213 6.32e-44 SMART
HOX 234 296 7.03e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176271
SMART Domains Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739

DomainStartEndE-ValueType
POU 139 213 6.32e-44 SMART
HOX 234 296 7.03e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176271
Predicted Effect probably null
Transcript: ENSMUST00000176300
AA Change: Q106*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176881
Predicted Effect probably null
Transcript: ENSMUST00000177202
AA Change: Q106*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230790
Meta Mutation Damage Score 0.9587 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,373,685 probably benign Het
Acpp A G 9: 104,324,218 probably benign Het
Ada T A 2: 163,727,603 probably benign Het
Ankrd17 T A 5: 90,244,406 K1693* probably null Het
Arhgef38 T A 3: 133,160,746 H210L possibly damaging Het
Car10 G A 11: 93,490,597 E129K possibly damaging Het
Cask A G X: 13,678,274 probably benign Het
Cd19 T C 7: 126,410,862 D406G probably damaging Het
Cd93 T C 2: 148,442,136 D430G probably benign Het
Cds1 T C 5: 101,817,840 probably benign Het
Cerkl A T 2: 79,343,289 S259T possibly damaging Het
Cog8 T C 8: 107,054,133 I164M possibly damaging Het
Col4a1 G A 8: 11,218,713 P1009L probably damaging Het
Col9a1 G A 1: 24,237,497 probably null Het
Dcc G A 18: 71,321,046 Q1241* probably null Het
Dock3 A C 9: 106,911,486 probably benign Het
Dus1l A T 11: 120,792,808 probably benign Het
Dvl2 G A 11: 70,008,100 E438K probably damaging Het
Eif3g A G 9: 20,897,753 F85S probably damaging Het
Fam234b A G 6: 135,227,226 M456V probably benign Het
Fbxo47 G A 11: 97,857,655 probably benign Het
Fyb2 A G 4: 104,945,464 T188A possibly damaging Het
Gm11437 T C 11: 84,148,636 T288A possibly damaging Het
Gm5546 T A 3: 104,353,132 noncoding transcript Het
Gmfb C A 14: 46,817,455 A11S probably benign Het
Gpat4 G A 8: 23,190,705 probably benign Het
Ifitm6 T A 7: 141,016,007 R124S possibly damaging Het
Il17rd T A 14: 27,094,854 L172Q probably damaging Het
Il4 A T 11: 53,613,914 L13Q probably damaging Het
Kif2b A G 11: 91,575,909 M516T probably damaging Het
Kmt2a A G 9: 44,830,059 probably benign Het
Maats1 G A 16: 38,302,684 Q661* probably null Het
Mark1-ps1 T A 17: 53,947,877 noncoding transcript Het
Mndal G T 1: 173,874,447 C96* probably null Het
Mroh1 T C 15: 76,451,140 S1365P probably benign Het
Mrpl12 A G 11: 120,485,442 probably benign Het
Mthfsd C A 8: 121,098,739 V270F probably benign Het
Nbas T A 12: 13,324,336 V555D probably damaging Het
Pcdhb16 T C 18: 37,478,359 V124A probably damaging Het
Pla2g10 T A 16: 13,715,518 Y131F possibly damaging Het
Plec T C 15: 76,191,414 probably benign Het
Polr2b T A 5: 77,326,561 V415E possibly damaging Het
Ptprd T C 4: 75,947,039 probably benign Het
Rad54b G A 4: 11,609,480 probably benign Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
Scn7a A G 2: 66,714,037 V370A probably benign Het
Sec1 A G 7: 45,678,891 V244A probably damaging Het
Serac1 A G 17: 6,064,937 probably benign Het
Slco2b1 A T 7: 99,685,501 Y254* probably null Het
Steap3 G A 1: 120,227,730 R500C probably damaging Het
Stk10 A G 11: 32,603,722 T580A probably benign Het
Tpo C T 12: 30,104,023 G228R probably damaging Het
Tpx2 T C 2: 152,893,683 F744L probably damaging Het
Ube3b G T 5: 114,408,217 probably null Het
Vmn2r84 A G 10: 130,394,193 S17P probably damaging Het
Vps13d A T 4: 145,164,694 probably benign Het
Zfp532 T A 18: 65,685,627 S851R probably benign Het
Zfp623 G A 15: 75,947,209 E5K probably benign Het
Other mutations in Pou6f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Pou6f1 APN 15 100580047 splice site probably benign
IGL02451:Pou6f1 APN 15 100579940 missense possibly damaging 0.80
IGL02545:Pou6f1 APN 15 100583425 nonsense probably null
R0076:Pou6f1 UTSW 15 100587836 nonsense probably null
R0212:Pou6f1 UTSW 15 100580815 missense possibly damaging 0.75
R1297:Pou6f1 UTSW 15 100578305 missense probably damaging 1.00
R2863:Pou6f1 UTSW 15 100580808 unclassified probably null
R2905:Pou6f1 UTSW 15 100585958 missense probably benign
R3418:Pou6f1 UTSW 15 100580924 missense probably benign 0.00
R4161:Pou6f1 UTSW 15 100580843 missense probably damaging 0.98
R4793:Pou6f1 UTSW 15 100578412 missense probably damaging 1.00
R5617:Pou6f1 UTSW 15 100585993 missense possibly damaging 0.95
R5947:Pou6f1 UTSW 15 100586120 missense possibly damaging 0.77
R6261:Pou6f1 UTSW 15 100579946 missense probably damaging 0.99
R6731:Pou6f1 UTSW 15 100579883 missense possibly damaging 0.57
R7696:Pou6f1 UTSW 15 100584098 missense probably benign 0.30
X0019:Pou6f1 UTSW 15 100583322 missense probably damaging 0.99
Z1177:Pou6f1 UTSW 15 100583241 missense possibly damaging 0.82
Posted On2013-01-20