Incidental Mutation 'IGL02451:Pou6f1'
ID293655
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 essential (E-score: 0.506) question?
Stock #IGL02451
Quality Score
Status
Chromosome15
Chromosomal Location100575318-100599984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 100579940 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 166 (T166A)
Ref Sequence ENSEMBL: ENSMUSP00000145707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058274] [ENSMUST00000073837] [ENSMUST00000176271] [ENSMUST00000176300] [ENSMUST00000177202]
Predicted Effect probably benign
Transcript: ENSMUST00000058274
SMART Domains Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739

DomainStartEndE-ValueType
low complexity region 113 132 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000073837
AA Change: T441A

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: T441A

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 possibly damaging
Transcript: ENSMUST00000176271
AA Change: T166A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: T166A

DomainStartEndE-ValueType
POU 139 213 6.32e-44 SMART
HOX 234 296 7.03e-22 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176271
AA Change: T166A

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000176300
Predicted Effect probably benign
Transcript: ENSMUST00000177202
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: ENSMUST00000230790
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123K08Rik T G 5: 138,563,547 T126P probably damaging Het
Asic2 T C 11: 80,891,737 probably benign Het
B430305J03Rik A G 3: 61,364,141 probably benign Het
Bbs7 A G 3: 36,610,592 F47L possibly damaging Het
BC017158 A G 7: 128,276,410 L257P probably damaging Het
Bcl2l14 G T 6: 134,423,841 G75V probably benign Het
Btnl4 T C 17: 34,475,927 H4R probably benign Het
Champ1 C A 8: 13,878,739 P299Q probably damaging Het
Cldnd2 A G 7: 43,441,658 K5E probably benign Het
Ctr9 T A 7: 111,043,424 L401* probably null Het
Cyp2c29 G A 19: 39,290,847 G96D possibly damaging Het
Enpp4 A T 17: 44,101,424 L298H probably damaging Het
Git1 T C 11: 77,500,687 C222R possibly damaging Het
Gpam T C 19: 55,088,203 T189A probably damaging Het
Hgfac T G 5: 35,043,814 probably null Het
Hivep3 T A 4: 120,133,965 S2221T probably damaging Het
Ifi47 T C 11: 49,095,777 Y124H probably damaging Het
Il1a T C 2: 129,306,655 E45G probably damaging Het
Itga11 T A 9: 62,735,353 I186N probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Mapk13 A G 17: 28,776,413 T203A probably damaging Het
Mrpl37 T A 4: 107,066,642 I52F probably damaging Het
Nr1i2 A G 16: 38,249,292 F417L probably benign Het
Olfr1129 T A 2: 87,575,232 S49R probably benign Het
Olfr811 G A 10: 129,801,833 Q231* probably null Het
Osbpl1a T C 18: 12,914,493 probably benign Het
Parg C T 14: 32,242,229 T112M probably damaging Het
Pifo T A 3: 106,014,504 E34D probably benign Het
Prtg A G 9: 72,856,999 I585V possibly damaging Het
Ptpru T G 4: 131,776,775 probably benign Het
Rab6a T C 7: 100,636,763 probably null Het
Rnf207 C T 4: 152,312,412 R425H probably benign Het
Skiv2l2 C T 13: 112,891,347 V660M probably damaging Het
Slc27a2 A G 2: 126,578,992 M468V probably benign Het
Slc30a1 A G 1: 191,907,329 H108R possibly damaging Het
Sned1 A G 1: 93,236,208 probably benign Het
Sptbn4 A T 7: 27,365,589 F2095Y probably null Het
Sspo A T 6: 48,460,303 probably benign Het
Tbx19 A G 1: 165,140,171 S336P probably benign Het
Tmem101 T A 11: 102,153,293 D256V probably damaging Het
Trbv20 T G 6: 41,188,276 L2V unknown Het
Trpc7 A G 13: 56,822,461 S382P probably damaging Het
Uhmk1 T C 1: 170,212,526 T91A possibly damaging Het
Vmn2r10 T A 5: 108,995,922 R721* probably null Het
Vmn2r94 T A 17: 18,258,191 Y98F possibly damaging Het
Zcchc11 C A 4: 108,529,276 Y1114* probably null Het
Zfp532 A G 18: 65,623,601 R202G probably damaging Het
Zfp827 T C 8: 79,060,972 S256P probably damaging Het
Zzef1 T C 11: 72,901,388 I2266T probably damaging Het
Other mutations in Pou6f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Pou6f1 APN 15 100580047 splice site probably benign
IGL02545:Pou6f1 APN 15 100583425 nonsense probably null
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
X0019:Pou6f1 UTSW 15 100583322 missense probably damaging 0.99
Posted On2015-04-16