Incidental Mutation 'IGL00486:Pou6f2'
ID 332201
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou6f2
Ensembl Gene ENSMUSG00000009734
Gene Name POU domain, class 6, transcription factor 2
Synonyms RPF-1, D130006K24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00486
Quality Score
Status
Chromosome 13
Chromosomal Location 18295683-18572271 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 18314170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 401 (S401F)
Gene Model predicted gene model for transcript(s): [ENSMUST00000176795] [ENSMUST00000184299]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000139064
AA Change: S401F

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: S401F

DomainStartEndE-ValueType
low complexity region 67 79 N/A INTRINSIC
coiled coil region 107 143 N/A INTRINSIC
low complexity region 248 266 N/A INTRINSIC
POU 422 532 9.61e-26 SMART
HOX 553 615 3.01e-21 SMART
Predicted Effect unknown
Transcript: ENSMUST00000175703
AA Change: S401F
Predicted Effect probably benign
Transcript: ENSMUST00000176795
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176898
SMART Domains Protein: ENSMUSP00000135222
Gene: ENSMUSG00000009734

DomainStartEndE-ValueType
low complexity region 8 26 N/A INTRINSIC
low complexity region 152 174 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000184299
AA Change: S145F

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000138840
Gene: ENSMUSG00000009734
AA Change: S145F

DomainStartEndE-ValueType
low complexity region 135 157 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and of normal size with no apparent phenotypic abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,846,076 (GRCm39) T576A probably damaging Het
As3mt A G 19: 46,708,864 (GRCm39) E286G probably benign Het
Baiap3 G T 17: 25,467,351 (GRCm39) probably benign Het
C1qc T C 4: 136,617,445 (GRCm39) E217G probably damaging Het
Ccser2 A G 14: 36,662,021 (GRCm39) Y388H probably damaging Het
Clcn7 C A 17: 25,370,097 (GRCm39) A328D probably damaging Het
Clstn1 G A 4: 149,719,700 (GRCm39) R415Q probably damaging Het
Hcn4 T C 9: 58,767,336 (GRCm39) S966P unknown Het
Heph A T X: 95,571,284 (GRCm39) D748V probably damaging Het
Herc1 C T 9: 66,383,402 (GRCm39) T3691I probably benign Het
Hsd17b14 A G 7: 45,216,137 (GRCm39) T236A possibly damaging Het
Kif28 C A 1: 179,530,081 (GRCm39) L693F probably damaging Het
Mnd1 T C 3: 84,045,505 (GRCm39) E33G possibly damaging Het
Nbas T G 12: 13,503,076 (GRCm39) D1520E probably benign Het
Poli C T 18: 70,658,561 (GRCm39) G81R probably damaging Het
Ppp1r3c G A 19: 36,711,324 (GRCm39) R149W probably damaging Het
Ptprc C A 1: 138,043,359 (GRCm39) C64F probably damaging Het
Ptprz1 T C 6: 22,973,053 (GRCm39) Y274H probably damaging Het
Ranbp2 T A 10: 58,313,434 (GRCm39) L1385I probably benign Het
Sgms1 A T 19: 32,137,025 (GRCm39) F180L probably damaging Het
Slc7a9 T A 7: 35,160,312 (GRCm39) M396K probably damaging Het
Syt17 T C 7: 118,033,513 (GRCm39) D165G probably damaging Het
Tnxb T C 17: 34,911,356 (GRCm39) L1553P probably damaging Het
Trim31 C A 17: 37,220,133 (GRCm39) Q350K probably benign Het
Wnk3 A G X: 150,016,025 (GRCm39) R494G probably damaging Het
Zmym6 A G 4: 127,017,978 (GRCm39) probably benign Het
Other mutations in Pou6f2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03046:Pou6f2 UTSW 13 18,303,612 (GRCm39) utr 3 prime probably benign
PIT4402001:Pou6f2 UTSW 13 18,299,931 (GRCm39) missense
PIT4519001:Pou6f2 UTSW 13 18,414,149 (GRCm39) missense unknown
R0349:Pou6f2 UTSW 13 18,326,589 (GRCm39) missense probably damaging 1.00
R0510:Pou6f2 UTSW 13 18,314,308 (GRCm39) splice site probably benign
R1449:Pou6f2 UTSW 13 18,347,000 (GRCm39) missense probably damaging 1.00
R1911:Pou6f2 UTSW 13 18,326,548 (GRCm39) missense probably damaging 0.98
R2971:Pou6f2 UTSW 13 18,556,552 (GRCm39) missense unknown
R5193:Pou6f2 UTSW 13 18,300,129 (GRCm39) utr 3 prime probably benign
R5218:Pou6f2 UTSW 13 18,326,586 (GRCm39) missense probably damaging 1.00
R6226:Pou6f2 UTSW 13 18,303,739 (GRCm39) missense possibly damaging 0.83
R6747:Pou6f2 UTSW 13 18,303,772 (GRCm39) missense probably benign 0.26
R6805:Pou6f2 UTSW 13 18,414,074 (GRCm39) missense
R6978:Pou6f2 UTSW 13 18,347,063 (GRCm39) missense probably damaging 1.00
R7072:Pou6f2 UTSW 13 18,299,754 (GRCm39) missense
R7158:Pou6f2 UTSW 13 18,326,623 (GRCm39) missense
R7187:Pou6f2 UTSW 13 18,414,298 (GRCm39) missense
R7198:Pou6f2 UTSW 13 18,303,748 (GRCm39) missense probably damaging 0.97
R7203:Pou6f2 UTSW 13 18,414,379 (GRCm39) missense unknown
R7241:Pou6f2 UTSW 13 18,299,874 (GRCm39) missense
R7307:Pou6f2 UTSW 13 18,414,298 (GRCm39) missense
R7827:Pou6f2 UTSW 13 18,553,092 (GRCm39) missense
R7895:Pou6f2 UTSW 13 18,300,033 (GRCm39) missense
R8070:Pou6f2 UTSW 13 18,414,209 (GRCm39) missense unknown
R8207:Pou6f2 UTSW 13 18,414,158 (GRCm39) missense
R8334:Pou6f2 UTSW 13 18,299,991 (GRCm39) missense probably damaging 1.00
R8680:Pou6f2 UTSW 13 18,414,196 (GRCm39) missense unknown
R8830:Pou6f2 UTSW 13 18,553,083 (GRCm39) missense
R9203:Pou6f2 UTSW 13 18,303,615 (GRCm39) missense
R9462:Pou6f2 UTSW 13 18,314,189 (GRCm39) missense probably benign 0.03
R9632:Pou6f2 UTSW 13 18,299,848 (GRCm39) missense
R9709:Pou6f2 UTSW 13 18,414,389 (GRCm39) missense unknown
Z1176:Pou6f2 UTSW 13 18,553,220 (GRCm39) missense unknown
Posted On 2015-08-05