Incidental Mutation 'IGL02545:Pou6f1'
ID297779
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou6f1
Ensembl Gene ENSMUSG00000009739
Gene NamePOU domain, class 6, transcription factor 1
Synonymscns-1, Emb, 2310038G18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.472) question?
Stock #IGL02545
Quality Score
Status
Chromosome15
Chromosomal Location100575318-100599984 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 100583425 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Stop codon at position 210 (W210*)
Ref Sequence ENSEMBL: ENSMUSP00000049955 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058274] [ENSMUST00000073837] [ENSMUST00000176271] [ENSMUST00000176300] [ENSMUST00000177202]
Predicted Effect probably null
Transcript: ENSMUST00000058274
AA Change: W210*
SMART Domains Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739
AA Change: W210*

DomainStartEndE-ValueType
low complexity region 113 132 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073837
AA Change: G293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: G293R

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 damaging
Transcript: ENSMUST00000176271
AA Change: G18R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: G18R

DomainStartEndE-ValueType
POU 139 213 6.32e-44 SMART
HOX 234 296 7.03e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176271
AA Change: G18R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000176300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176881
Predicted Effect probably benign
Transcript: ENSMUST00000177202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177335
SMART Domains Protein: ENSMUSP00000135627
Gene: ENSMUSG00000009739

DomainStartEndE-ValueType
POU 28 102 6.32e-44 SMART
HOX 123 185 7.03e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230790
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930523C07Rik T C 1: 160,075,424 L88P probably damaging Het
Adamtsl4 G A 3: 95,683,374 Q354* probably null Het
Aox3 A C 1: 58,183,486 D1146A probably damaging Het
Ap2a1 T A 7: 44,906,426 H340L probably damaging Het
Ccni G T 5: 93,187,777 F167L probably benign Het
Ctcf A G 8: 105,664,381 T207A probably benign Het
D930020B18Rik A G 10: 121,689,933 H580R possibly damaging Het
Dock3 A T 9: 107,062,072 L159Q probably damaging Het
Dync1i2 T C 2: 71,262,751 I630T possibly damaging Het
Fchsd2 A G 7: 101,198,508 T202A probably benign Het
Gdi2 A G 13: 3,557,009 Y214C probably damaging Het
Gna14 T A 19: 16,533,726 S46R probably damaging Het
Hfm1 A G 5: 106,895,287 I627T probably damaging Het
Ighv1-19 G A 12: 114,708,739 A87V probably damaging Het
Itch G A 2: 155,172,586 probably null Het
Klrb1b T C 6: 128,820,309 Q72R possibly damaging Het
Lrpprc A G 17: 84,775,425 F144L probably benign Het
Lrrc7 A G 3: 158,185,374 probably benign Het
Ndufa11 T A 17: 56,721,338 F72L probably damaging Het
Neu1 T A 17: 34,931,501 V32E probably benign Het
Olfr181 T A 16: 58,926,470 I34F possibly damaging Het
Osmr T C 15: 6,823,579 K611E probably damaging Het
Pcdh20 A G 14: 88,468,844 V340A possibly damaging Het
Pih1d3 A G 1: 31,223,096 D53G probably damaging Het
Plxna2 T A 1: 194,786,690 probably benign Het
Ppat A G 5: 76,915,232 Y511H probably damaging Het
Psme4 T G 11: 30,841,586 V1147G possibly damaging Het
Scap C T 9: 110,378,690 T489I probably benign Het
Sptb A G 12: 76,607,980 probably null Het
Tcl1b5 T A 12: 105,180,037 probably benign Het
Trim54 T A 5: 31,132,165 probably benign Het
Unc13c C T 9: 73,481,075 R2143Q probably damaging Het
Vmn1r56 A T 7: 5,196,114 V168D probably benign Het
Vmn2r66 A T 7: 85,006,590 M406K possibly damaging 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
R0076:Pou6f1 UTSW 15 100587836 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 On2015-04-16