Incidental Mutation 'R5947:Pou6f1'
ID 472252
Institutional Source Beutler Lab
Gene Symbol Pou6f1
Ensembl Gene ENSMUSG00000009739
Gene Name POU domain, class 6, transcription factor 1
Synonyms cns-1, 2310038G18Rik, Emb
MMRRC Submission 044138-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.466) question?
Stock # R5947 (G1)
Quality Score 122
Status Validated
Chromosome 15
Chromosomal Location 100473199-100497865 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100484001 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 166 (V166M)
Ref Sequence ENSEMBL: ENSMUSP00000073504 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058274] [ENSMUST00000073837] [ENSMUST00000176271] [ENSMUST00000176300] [ENSMUST00000177202]
AlphaFold Q07916
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: V166M

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: V166M

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 benign
Transcript: ENSMUST00000176300
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176881
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205510
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230790
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177247
Predicted Effect probably benign
Transcript: ENSMUST00000177202
Predicted Effect noncoding transcript
Transcript: ENSMUST00000177505
Meta Mutation Damage Score 0.0849 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 100% (70/70)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 T C 8: 124,694,737 (GRCm39) probably null Het
Abt1 T C 13: 23,606,225 (GRCm39) E243G possibly damaging Het
Afap1l1 A G 18: 61,876,771 (GRCm39) S361P probably damaging Het
Alms1 T C 6: 85,596,694 (GRCm39) S507P probably benign Het
Atp13a3 A G 16: 30,181,518 (GRCm39) V34A probably benign Het
Atpaf2 A T 11: 60,296,708 (GRCm39) probably benign Het
Bbs1 A C 19: 4,943,022 (GRCm39) L456R probably benign Het
Bri3bp G T 5: 125,529,217 (GRCm39) G84* probably null Het
Bri3bp G C 5: 125,529,218 (GRCm39) probably benign Het
Car10 A C 11: 93,381,439 (GRCm39) H134P probably damaging Het
Cntrl A G 2: 35,006,691 (GRCm39) E119G probably damaging Het
Cxcl3 C T 5: 90,934,175 (GRCm39) probably benign Het
Dppa4 T C 16: 48,111,471 (GRCm39) V100A possibly damaging Het
Elmo1 G T 13: 20,474,553 (GRCm39) E105* probably null Het
Esrp2 T G 8: 106,859,565 (GRCm39) probably benign Het
Exoc3l4 A G 12: 111,388,835 (GRCm39) K108R possibly damaging Het
Exph5 G A 9: 53,286,522 (GRCm39) R1201H probably benign Het
Galnt3 A C 2: 65,914,500 (GRCm39) probably benign Het
Gm14486 C T 2: 30,548,813 (GRCm39) noncoding transcript Het
Gna12 T A 5: 140,746,717 (GRCm39) I243F probably damaging Het
Itga5 A T 15: 103,265,212 (GRCm39) W232R probably damaging Het
Lekr1 A T 3: 65,680,498 (GRCm39) noncoding transcript Het
Lrp1 C T 10: 127,425,423 (GRCm39) probably null Het
Mast4 T C 13: 102,872,148 (GRCm39) M2215V probably benign Het
Mfap5 T C 6: 122,502,945 (GRCm39) Y52H probably damaging Het
Mrps31 A G 8: 22,904,991 (GRCm39) K127E possibly damaging Het
Mto1 C T 9: 78,368,311 (GRCm39) T485M probably damaging Het
Mybbp1a G A 11: 72,333,257 (GRCm39) C107Y probably damaging Het
Nedd4 G A 9: 72,638,132 (GRCm39) probably benign Het
Nek2 A G 1: 191,561,597 (GRCm39) E360G probably benign Het
Notch1 T A 2: 26,352,540 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,050 (GRCm39) probably benign Het
Pcdhb1 G A 18: 37,399,726 (GRCm39) R559H possibly damaging Het
Pdcd11 G A 19: 47,117,702 (GRCm39) V1684I probably benign Het
Pggt1b G T 18: 46,382,007 (GRCm39) N258K probably benign Het
Pprc1 A G 19: 46,052,111 (GRCm39) D546G possibly damaging Het
Psapl1 T C 5: 36,361,651 (GRCm39) V81A probably benign Het
Rin2 T A 2: 145,686,863 (GRCm39) probably benign Het
Rpf1 A G 3: 146,212,299 (GRCm39) F347S probably damaging Het
Rrp12 A T 19: 41,859,247 (GRCm39) probably null Het
Ryr1 A T 7: 28,771,349 (GRCm39) L2557Q probably null Het
Slc1a7 T C 4: 107,867,497 (GRCm39) probably benign Het
Slc35e2 T A 4: 155,696,171 (GRCm39) M186K possibly damaging Het
Slc49a4 T C 16: 35,550,676 (GRCm39) T308A probably benign Het
Snx6 G T 12: 54,817,549 (GRCm39) S116* probably null Het
Sptan1 T C 2: 29,884,379 (GRCm39) probably null Het
Sucla2 T A 14: 73,830,109 (GRCm39) M382K probably damaging Het
Susd5 T C 9: 113,886,659 (GRCm39) L16P possibly damaging Het
Tmem260 G A 14: 48,724,258 (GRCm39) A369T possibly damaging Het
Tmprss6 A G 15: 78,336,722 (GRCm39) Y393H probably damaging Het
Tnrc6c A T 11: 117,613,345 (GRCm39) Q501L probably damaging Het
Trim17 A G 11: 58,856,369 (GRCm39) Y142C probably damaging Het
Trim65 T C 11: 116,019,108 (GRCm39) R144G probably damaging Het
Trpm1 A G 7: 63,873,547 (GRCm39) T601A probably benign Het
Ttn A T 2: 76,564,688 (GRCm39) V28483E probably damaging Het
Ube2l3 T C 16: 17,019,340 (GRCm39) probably null Het
Ube2l3 G T 16: 17,019,336 (GRCm39) probably benign Het
Yme1l1 T C 2: 23,085,318 (GRCm39) probably benign Het
Zfat A G 15: 68,051,806 (GRCm39) S663P probably benign Het
Zfp647 G A 15: 76,796,285 (GRCm39) P125L probably damaging Het
Other mutations in Pou6f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00480:Pou6f1 APN 15 100,477,928 (GRCm39) splice site probably benign
IGL02451:Pou6f1 APN 15 100,477,821 (GRCm39) missense possibly damaging 0.80
IGL02545:Pou6f1 APN 15 100,481,306 (GRCm39) nonsense probably null
R0076:Pou6f1 UTSW 15 100,485,717 (GRCm39) nonsense probably null
R0076:Pou6f1 UTSW 15 100,485,717 (GRCm39) nonsense probably null
R0212:Pou6f1 UTSW 15 100,478,696 (GRCm39) missense possibly damaging 0.75
R1297:Pou6f1 UTSW 15 100,476,186 (GRCm39) missense probably damaging 1.00
R2863:Pou6f1 UTSW 15 100,478,689 (GRCm39) splice site probably null
R2905:Pou6f1 UTSW 15 100,483,839 (GRCm39) missense probably benign
R3418:Pou6f1 UTSW 15 100,478,805 (GRCm39) missense probably benign 0.00
R4161:Pou6f1 UTSW 15 100,478,724 (GRCm39) missense probably damaging 0.98
R4793:Pou6f1 UTSW 15 100,476,293 (GRCm39) missense probably damaging 1.00
R5617:Pou6f1 UTSW 15 100,483,874 (GRCm39) missense possibly damaging 0.95
R6261:Pou6f1 UTSW 15 100,477,827 (GRCm39) missense probably damaging 0.99
R6731:Pou6f1 UTSW 15 100,477,764 (GRCm39) missense possibly damaging 0.57
R7696:Pou6f1 UTSW 15 100,481,979 (GRCm39) missense probably benign 0.30
R8795:Pou6f1 UTSW 15 100,485,686 (GRCm39) missense possibly damaging 0.68
R8941:Pou6f1 UTSW 15 100,489,742 (GRCm39) missense probably damaging 0.99
R9114:Pou6f1 UTSW 15 100,478,789 (GRCm39) missense probably benign 0.28
R9731:Pou6f1 UTSW 15 100,476,206 (GRCm39) missense possibly damaging 0.91
R9737:Pou6f1 UTSW 15 100,481,282 (GRCm39) missense probably benign 0.01
X0019:Pou6f1 UTSW 15 100,481,203 (GRCm39) missense probably damaging 0.99
Z1177:Pou6f1 UTSW 15 100,481,122 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- ATCCCTGGGCTAAATGCGAAG -3'
(R):5'- AGATGTTGCATGTGCCAGC -3'

Sequencing Primer
(F):5'- TGCAGGCTGGACAGTGATC -3'
(R):5'- ATGTGCCAGCCCTTCAAG -3'
Posted On 2017-03-31