Incidental Mutation 'R4881:Pou1f1'
ID 375305
Institutional Source Beutler Lab
Gene Symbol Pou1f1
Ensembl Gene ENSMUSG00000004842
Gene Name POU domain, class 1, transcription factor 1
Synonyms Hmp1, Pit1, GHF-1, Pit1-rs1, Pit-1
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R4881 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 65317397-65331891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 65328728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 149 (T149I)
Ref Sequence ENSEMBL: ENSMUSP00000139087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]
AlphaFold Q00286
Predicted Effect probably damaging
Transcript: ENSMUST00000004964
AA Change: T177I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: T177I

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176038
AA Change: T177I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: T177I

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176330
AA Change: T151I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: T151I

DomainStartEndE-ValueType
POU 124 198 3.77e-51 SMART
HOX 214 276 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000184525
AA Change: T149I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: T149I

DomainStartEndE-ValueType
POU 122 196 3.77e-51 SMART
HOX 212 274 2.07e-19 SMART
Meta Mutation Damage Score 0.2760 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (57/57)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 119,877,472 (GRCm39) L1040P possibly damaging Het
Acot11 C A 4: 106,612,502 (GRCm39) probably null Het
Aldoart2 C A 12: 55,612,899 (GRCm39) Q275K probably damaging Het
Auts2 T C 5: 131,501,288 (GRCm39) T42A probably damaging Het
Bora C T 14: 99,299,003 (GRCm39) L187F probably damaging Het
Cbln4 A G 2: 171,884,059 (GRCm39) S54P possibly damaging Het
Celsr3 T A 9: 108,721,140 (GRCm39) L2661Q probably damaging Het
Cfap65 T C 1: 74,946,772 (GRCm39) T1313A probably damaging Het
Dbndd2 C A 2: 164,332,225 (GRCm39) probably benign Het
Dennd4a A G 9: 64,746,126 (GRCm39) D4G possibly damaging Het
Dmxl1 T A 18: 50,090,348 (GRCm39) probably benign Het
Dnah7b T C 1: 46,240,478 (GRCm39) C1532R probably damaging Het
Erbb3 A T 10: 128,412,816 (GRCm39) H591Q probably benign Het
Exosc4 T C 15: 76,213,770 (GRCm39) L198P probably damaging Het
F2r A T 13: 95,754,837 (GRCm39) C16S possibly damaging Het
Gtf2h4 A T 17: 35,981,125 (GRCm39) I234N possibly damaging Het
Ift27 A T 15: 78,049,448 (GRCm39) V84D probably damaging Het
Ints10 C T 8: 69,263,256 (GRCm39) A389V probably benign Het
Irs1 TGGGGTGGACATCGAACTGAAGGAG TG 1: 82,265,453 (GRCm39) 913 probably null Het
Klrc2 T A 6: 129,637,471 (GRCm39) T17S possibly damaging Het
Matr3 T A 18: 35,705,428 (GRCm39) S118T probably damaging Het
Mfsd6l C T 11: 68,448,748 (GRCm39) A533V probably benign Het
Msh3 A G 13: 92,402,549 (GRCm39) probably benign Het
Myo5c A G 9: 75,191,434 (GRCm39) M1103V probably benign Het
Niban2 C A 2: 32,812,590 (GRCm39) Y446* probably null Het
Or2y1e T A 11: 49,219,124 (GRCm39) D295E probably benign Het
Or5e1 T C 7: 108,354,612 (GRCm39) L183P probably damaging Het
Or6z3 A T 7: 6,463,753 (GRCm39) M82L probably benign Het
Osbpl3 A T 6: 50,329,764 (GRCm39) D88E possibly damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Pstpip2 T A 18: 77,962,032 (GRCm39) Y267* probably null Het
Rcor1 A G 12: 111,063,986 (GRCm39) D95G probably damaging Het
Rttn T C 18: 89,119,809 (GRCm39) L1748P probably damaging Het
Slco2a1 A G 9: 102,963,031 (GRCm39) K629E possibly damaging Het
Smarcc1 A G 9: 109,964,696 (GRCm39) probably benign Het
Son A G 16: 91,472,397 (GRCm39) K360E probably benign Het
Stab1 A T 14: 30,865,629 (GRCm39) M1753K probably benign Het
Syne2 A G 12: 76,026,593 (GRCm39) I3474V probably damaging Het
Tmem63c A T 12: 87,133,192 (GRCm39) T736S possibly damaging Het
Tmpo G A 10: 90,998,503 (GRCm39) P428L possibly damaging Het
Tmprss11a G T 5: 86,570,432 (GRCm39) Q176K probably damaging Het
Trappc4 A G 9: 44,315,322 (GRCm39) S219P probably damaging Het
Vmn2r117 G T 17: 23,696,859 (GRCm39) P183T probably damaging Het
Vmn2r54 C T 7: 12,363,598 (GRCm39) V432I probably benign Het
Vtcn1 G A 3: 100,799,909 (GRCm39) G257R probably benign Het
Yipf1 T A 4: 107,202,288 (GRCm39) M217K possibly damaging Het
Zfc3h1 T C 10: 115,236,647 (GRCm39) S374P probably benign Het
Zfp407 T C 18: 84,577,828 (GRCm39) H1095R probably benign Het
Zfp661 A T 2: 127,420,564 (GRCm39) H78Q probably benign Het
Zfp957 T C 14: 79,450,849 (GRCm39) T317A unknown Het
Zfyve9 T A 4: 108,584,688 (GRCm39) probably null Het
Other mutations in Pou1f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Pou1f1 APN 16 65,326,784 (GRCm39) missense probably damaging 1.00
IGL02416:Pou1f1 APN 16 65,328,842 (GRCm39) missense probably damaging 1.00
IGL02704:Pou1f1 APN 16 65,326,685 (GRCm39) missense possibly damaging 0.80
IGL02938:Pou1f1 APN 16 65,320,430 (GRCm39) missense probably benign 0.00
R1780:Pou1f1 UTSW 16 65,320,356 (GRCm39) missense probably benign 0.04
R4742:Pou1f1 UTSW 16 65,320,367 (GRCm39) missense probably benign
R5262:Pou1f1 UTSW 16 65,328,868 (GRCm39) nonsense probably null
R7404:Pou1f1 UTSW 16 65,330,749 (GRCm39) missense probably damaging 1.00
R7612:Pou1f1 UTSW 16 65,326,811 (GRCm39) missense probably damaging 0.99
R9072:Pou1f1 UTSW 16 65,328,833 (GRCm39) missense
R9073:Pou1f1 UTSW 16 65,328,833 (GRCm39) missense
R9168:Pou1f1 UTSW 16 65,317,427 (GRCm39) unclassified probably benign
R9477:Pou1f1 UTSW 16 65,320,503 (GRCm39) missense possibly damaging 0.71
R9512:Pou1f1 UTSW 16 65,320,502 (GRCm39) missense probably benign 0.00
R9712:Pou1f1 UTSW 16 65,326,758 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ATGTATCTGTTCCGTGCTGC -3'
(R):5'- CGGAGATTGGCTTCAGTACCTC -3'

Sequencing Primer
(F):5'- GAACTAAAGGGCACATTTAGATGTAC -3'
(R):5'- AGTACCTCCGACCTGCTCAG -3'
Posted On 2016-03-17