Incidental Mutation 'IGL02086:Pou1f1'
ID285461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pou1f1
Ensembl Gene ENSMUSG00000004842
Gene NamePOU domain, class 1, transcription factor 1
SynonymsPit1, Pit1-rs1, Hmp1, GHF-1, Pit-1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.935) question?
Stock #IGL02086
Quality Score
Status
Chromosome16
Chromosomal Location65520511-65535005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 65529898 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 128 (E128G)
Ref Sequence ENSEMBL: ENSMUSP00000135113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]
Predicted Effect probably damaging
Transcript: ENSMUST00000004964
AA Change: E154G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: E154G

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175882
Predicted Effect probably damaging
Transcript: ENSMUST00000176038
AA Change: E154G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: E154G

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176330
AA Change: E128G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: E128G

DomainStartEndE-ValueType
POU 124 198 3.77e-51 SMART
HOX 214 276 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184525
AA Change: E126G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: E126G

DomainStartEndE-ValueType
POU 122 196 3.77e-51 SMART
HOX 212 274 2.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232553
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for spontaneous mutations exhibit hypoplasia of the anterior pituitary cells resulting in deficiencies in growth hormone, prolactin, and thyroid-stimulating hormone, dwarfism, and sterility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930426L09Rik T C 2: 18,998,812 probably benign Het
Abi3bp A G 16: 56,642,567 probably benign Het
Asb4 T C 6: 5,398,386 I117T probably benign Het
BC005561 A G 5: 104,519,001 E463G possibly damaging Het
Birc6 T G 17: 74,639,827 L2847R probably damaging Het
C2cd2 A G 16: 97,890,008 probably benign Het
Ccdc77 C A 6: 120,339,158 C186F possibly damaging Het
Cd300ld2 T A 11: 115,012,558 probably benign Het
Cd55b A T 1: 130,418,182 D166E probably benign Het
Cfap100 A G 6: 90,413,972 F8L probably damaging Het
Col2a1 C T 15: 97,986,737 probably null Het
Dbf4 A G 5: 8,403,189 I270T probably benign Het
Dkk3 T C 7: 112,149,029 S123G probably benign Het
Ep400 A G 5: 110,676,943 probably benign Het
Fam184a A G 10: 53,699,255 I30T probably damaging Het
Fam20a T C 11: 109,673,413 I505V probably benign Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Fcho1 T C 8: 71,716,800 E154G probably damaging Het
Klhdc1 A G 12: 69,283,184 I362M probably benign Het
Knl1 A T 2: 119,100,774 E1990D probably benign Het
Lancl2 A G 6: 57,734,039 Y394C probably damaging Het
Lgi2 G A 5: 52,565,957 S50F probably damaging Het
Map2k7 A G 8: 4,238,950 E14G probably damaging Het
Mga A G 2: 119,924,036 I1009V probably damaging Het
Nat9 C A 11: 115,183,408 probably null Het
Nek2 G A 1: 191,831,289 A422T probably benign Het
Nfkbiz A T 16: 55,815,671 L509Q probably damaging Het
Olfr661 A T 7: 104,688,427 R137S probably benign Het
Pgap1 T A 1: 54,547,988 Q143L probably damaging Het
Pkd1l3 C T 8: 109,665,585 T1937I probably damaging Het
Ppfia3 T C 7: 45,340,572 probably benign Het
Prkd1 T C 12: 50,387,263 I566V probably benign Het
Psd2 A G 18: 36,005,906 R528G probably damaging Het
Ptprg G T 14: 12,110,080 E263* probably null Het
Radil T C 5: 142,543,821 D40G probably benign Het
Ryr2 T A 13: 11,735,556 Y1943F probably damaging Het
Slc30a4 C T 2: 122,702,027 probably benign Het
Slc31a1 A T 4: 62,388,004 T120S possibly damaging Het
Snrpe A G 1: 133,609,749 probably benign Het
Stx3 G T 19: 11,818,682 probably benign Het
Ufsp1 T A 5: 137,294,916 C43S probably damaging Het
Vac14 T A 8: 110,653,318 M416K possibly damaging Het
Vmn1r81 A C 7: 12,259,865 V272G possibly damaging Het
Vmn2r107 T A 17: 20,357,800 I457K probably benign Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Vmn2r9 T C 5: 108,847,567 Y405C probably damaging Het
Zcchc17 T C 4: 130,316,647 *242W probably null Het
Zfp503 T C 14: 21,987,286 K83R possibly damaging Het
Other mutations in Pou1f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02416:Pou1f1 APN 16 65531956 missense probably damaging 1.00
IGL02704:Pou1f1 APN 16 65529799 missense possibly damaging 0.80
IGL02938:Pou1f1 APN 16 65523544 missense probably benign 0.00
R1780:Pou1f1 UTSW 16 65523470 missense probably benign 0.04
R4742:Pou1f1 UTSW 16 65523481 missense probably benign
R4881:Pou1f1 UTSW 16 65531842 missense probably damaging 1.00
R5262:Pou1f1 UTSW 16 65531982 nonsense probably null
R7404:Pou1f1 UTSW 16 65533863 missense probably damaging 1.00
R7612:Pou1f1 UTSW 16 65529925 missense probably damaging 0.99
Posted On2015-04-16