Incidental Mutation 'R7612:Pou1f1'
ID 588687
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 045680-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # R7612 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 65317397-65331891 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 65326811 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 137 (N137S)
Ref Sequence ENSEMBL: ENSMUSP00000135113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]
AlphaFold Q00286
Predicted Effect probably damaging
Transcript: ENSMUST00000004964
AA Change: N163S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: N163S

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176038
AA Change: N163S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: N163S

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000176330
AA Change: N137S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: N137S

DomainStartEndE-ValueType
POU 124 198 3.77e-51 SMART
HOX 214 276 2.07e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000184525
AA Change: N135S

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: N135S

DomainStartEndE-ValueType
POU 122 196 3.77e-51 SMART
HOX 212 274 2.07e-19 SMART
Meta Mutation Damage Score 0.1885 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (51/51)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A T 16: 88,570,496 (GRCm39) Y181* probably null Het
Adgrf2 T G 17: 43,025,271 (GRCm39) K71T possibly damaging Het
Brca2 T A 5: 150,464,076 (GRCm39) M1280K probably benign Het
Card14 T C 11: 119,224,405 (GRCm39) S541P possibly damaging Het
Cd19 G T 7: 126,013,496 (GRCm39) Q98K possibly damaging Het
Ceacam5 T A 7: 17,493,341 (GRCm39) I788N possibly damaging Het
Cpne2 A T 8: 95,284,048 (GRCm39) I290L probably benign Het
Cpsf1 C T 15: 76,481,209 (GRCm39) V1216I probably benign Het
Csad G A 15: 102,097,357 (GRCm39) probably benign Het
Depdc7 T A 2: 104,560,853 (GRCm39) Q47L probably benign Het
Dnajc6 T A 4: 101,455,123 (GRCm39) S105T probably benign Het
Dsg4 C A 18: 20,604,047 (GRCm39) P838Q probably damaging Het
Efcab3 T A 11: 104,999,647 (GRCm39) Y179N possibly damaging Het
Egfr A T 11: 16,809,025 (GRCm39) N73I possibly damaging Het
Eya2 T C 2: 165,529,657 (GRCm39) probably null Het
Fubp1 A G 3: 151,923,652 (GRCm39) Q123R possibly damaging Het
Galns A G 8: 123,311,693 (GRCm39) I439T possibly damaging Het
Gm57858 A T 3: 36,079,506 (GRCm39) S261R possibly damaging Het
Gsdmd T G 15: 75,736,803 (GRCm39) L140R probably damaging Het
Hcrtr1 A G 4: 130,029,478 (GRCm39) V201A possibly damaging Het
Ildr2 T A 1: 166,135,361 (GRCm39) M371K probably benign Het
Kalrn G A 16: 34,134,582 (GRCm39) T412I possibly damaging Het
Kdm5b C T 1: 134,552,656 (GRCm39) Q1211* probably null Het
Loxhd1 T C 18: 77,517,671 (GRCm39) S1840P possibly damaging Het
Maml2 A G 9: 13,617,781 (GRCm39) M376V probably benign Het
Mgat4e T C 1: 134,469,745 (GRCm39) T100A probably damaging Het
Myo18b T A 5: 113,013,168 (GRCm39) T812S possibly damaging Het
Nanp T A 2: 150,881,158 (GRCm39) E30V probably null Het
Or2w1b G T 13: 21,300,217 (GRCm39) M118I probably damaging Het
Or4c107 T G 2: 88,788,849 (GRCm39) L13R probably damaging Het
Or5ac21 A T 16: 59,123,990 (GRCm39) H158L probably damaging Het
Parp3 T A 9: 106,351,393 (GRCm39) N241I probably benign Het
Piezo2 T C 18: 63,175,610 (GRCm39) N1924D probably benign Het
Ptgdr A G 14: 45,096,094 (GRCm39) M206T probably damaging Het
Ptprd T C 4: 76,004,696 (GRCm39) T20A probably benign Het
Rexo1 G C 10: 80,385,497 (GRCm39) S520R probably benign Het
Sgip1 T A 4: 102,727,005 (GRCm39) S94T probably benign Het
Slc35e3 A G 10: 117,576,785 (GRCm39) V182A probably benign Het
Slfn2 A G 11: 82,961,089 (GRCm39) E356G probably damaging Het
Spry4 C A 18: 38,722,982 (GRCm39) K260N probably damaging Het
Sync A T 4: 129,187,375 (GRCm39) M136L probably benign Het
Tm7sf2 A G 19: 6,120,638 (GRCm39) V425A probably benign Het
Trim21 T A 7: 102,208,742 (GRCm39) M326L probably benign Het
Trim62 A G 4: 128,790,677 (GRCm39) Q158R probably benign Het
Tubgcp2 T A 7: 139,580,964 (GRCm39) K663M probably damaging Het
Uggt1 T C 1: 36,202,316 (GRCm39) I1094V probably damaging Het
Urb1 A G 16: 90,594,798 (GRCm39) S245P probably damaging Het
Vwa3a A T 7: 120,351,838 (GRCm39) D34V probably null Het
Zbtb45 C T 7: 12,741,326 (GRCm39) A311T possibly damaging Het
Zfp655 T C 5: 145,173,999 (GRCm39) S135P unknown 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
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
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'- TTTCCAGACCACACCCTGAG -3'
(R):5'- AAAGCTAATCTTGAGGTTGGCTAG -3'

Sequencing Primer
(F):5'- ACACCCTGAGTCATGGATTTC -3'
(R):5'- TTAGTTTCCCCAGTTGGACTG -3'
Posted On 2019-10-24