Incidental Mutation 'R4742:Pou1f1'
ID 358152
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
MMRRC Submission 041966-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R4742 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 65317397-65331891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 65320367 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 19 (P19T)
Ref Sequence ENSEMBL: ENSMUSP00000139087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]
AlphaFold Q00286
Predicted Effect probably benign
Transcript: ENSMUST00000004964
SMART Domains Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842

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 benign
Transcript: ENSMUST00000176038
SMART Domains Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000176330
SMART Domains Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842

DomainStartEndE-ValueType
POU 124 198 3.77e-51 SMART
HOX 214 276 2.07e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184525
AA Change: P19T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: P19T

DomainStartEndE-ValueType
POU 122 196 3.77e-51 SMART
HOX 212 274 2.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232553
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
Validation Efficiency 94% (51/54)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8030423J24Rik G T 13: 71,031,644 (GRCm39) R17L unknown Het
Acan T C 7: 78,750,517 (GRCm39) F1763L probably benign Het
Adgrb1 T A 15: 74,401,328 (GRCm39) L108* probably null Het
Anapc2 T A 2: 25,163,555 (GRCm39) probably null Het
Apbb1ip A G 2: 22,716,928 (GRCm39) K177E unknown Het
Azgp1 T A 5: 137,987,888 (GRCm39) Y223* probably null Het
Cfap44 T G 16: 44,269,615 (GRCm39) probably null Het
Chfr C T 5: 110,291,464 (GRCm39) T94I probably benign Het
Chrna10 T G 7: 101,762,344 (GRCm39) Q282P probably damaging Het
Col9a3 G T 2: 180,245,180 (GRCm39) G130W unknown Het
Dcaf1 A G 9: 106,735,754 (GRCm39) T901A probably benign Het
Dock2 T G 11: 34,244,170 (GRCm39) probably null Het
Dysf C A 6: 84,074,697 (GRCm39) D499E probably damaging Het
Fdxacb1 A G 9: 50,679,968 (GRCm39) probably benign Het
Fhip1b A G 7: 105,033,518 (GRCm39) V566A probably damaging Het
Il31ra G T 13: 112,660,501 (GRCm39) S615* probably null Het
Itgam C T 7: 127,712,245 (GRCm39) S827F probably damaging Het
Mapkbp1 T A 2: 119,847,299 (GRCm39) V512E probably damaging Het
Myo1c C T 11: 75,560,856 (GRCm39) R770* probably null Het
Nab2 T C 10: 127,498,696 (GRCm39) T458A probably benign Het
Nadsyn1 A G 7: 143,352,367 (GRCm39) probably benign Het
Nek10 A G 14: 14,861,624 (GRCm38) D560G probably null Het
Or2ag13 A T 7: 106,472,635 (GRCm39) N272K probably damaging Het
Or2ak6 A G 11: 58,592,685 (GRCm39) R53G probably benign Het
Or8b46 T C 9: 38,450,952 (GRCm39) S254P probably damaging Het
Prdm9 A T 17: 15,773,783 (GRCm39) D329E probably damaging Het
Prkn T A 17: 11,456,591 (GRCm39) probably null Het
Ptprm A C 17: 67,051,746 (GRCm39) Y962* probably null Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhox2c A C X: 36,635,351 (GRCm39) Q4H probably benign Het
Rlig1 T C 10: 100,414,243 (GRCm39) I139V probably benign Het
Rtkn2 A G 10: 67,839,144 (GRCm39) T154A possibly damaging Het
Slitrk3 T C 3: 72,955,898 (GRCm39) D958G probably benign Het
Spata31d1b C A 13: 59,864,426 (GRCm39) H525N probably damaging Het
Tacc2 A G 7: 130,227,697 (GRCm39) R1461G probably benign Het
Tas2r105 G A 6: 131,663,814 (GRCm39) H205Y probably damaging Het
Tenm4 A G 7: 96,446,691 (GRCm39) N809D probably damaging Het
Thoc2l A T 5: 104,666,723 (GRCm39) N415I probably benign Het
Tns1 A G 1: 74,163,449 (GRCm39) probably null Het
Top1 A G 2: 160,545,490 (GRCm39) probably null Het
Traf3ip2 C T 10: 39,515,256 (GRCm39) P345S possibly damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Txndc9 T C 1: 38,026,765 (GRCm39) D135G possibly damaging Het
Usp3 A G 9: 66,427,959 (GRCm39) Y339H probably damaging Het
Vmn1r5 A T 6: 56,963,236 (GRCm39) K304* probably null Het
Vmn2r92 A G 17: 18,387,119 (GRCm39) T153A probably benign Het
Xkr5 A T 8: 18,998,746 (GRCm39) *55K 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
R4881:Pou1f1 UTSW 16 65,328,728 (GRCm39) missense probably damaging 1.00
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'- AGGCCACACTGCAATCTAG -3'
(R):5'- TTCCCTCAGGCACGAGAAAATC -3'

Sequencing Primer
(F):5'- GCCACACTGCAATCTAGTTTGATAAC -3'
(R):5'- GCACGAGAAAATCCAACACTGTTTTC -3'
Posted On 2015-11-11