Incidental Mutation 'IGL02704:Pou1f1'
ID304253
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: 0.916) question?
Stock #IGL02704
Quality Score
Status
Chromosome16
Chromosomal Location65520511-65535005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 65529799 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 121 (Q121L)
Ref Sequence ENSEMBL: ENSMUSP00000135574 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004964] [ENSMUST00000176038] [ENSMUST00000176330] [ENSMUST00000184525]
Predicted Effect possibly damaging
Transcript: ENSMUST00000004964
AA Change: Q121L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004964
Gene: ENSMUSG00000004842
AA Change: Q121L

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000175882
Predicted Effect possibly damaging
Transcript: ENSMUST00000176038
AA Change: Q121L

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000135574
Gene: ENSMUSG00000004842
AA Change: Q121L

DomainStartEndE-ValueType
POU 150 224 3.77e-51 SMART
HOX 240 302 2.07e-19 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000176330
AA Change: Q95L

PolyPhen 2 Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135113
Gene: ENSMUSG00000004842
AA Change: Q95L

DomainStartEndE-ValueType
POU 124 198 3.77e-51 SMART
HOX 214 276 2.07e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000184525
AA Change: Q93L

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000139087
Gene: ENSMUSG00000004842
AA Change: Q93L

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs G T 2: 93,842,926 P162Q probably damaging Het
Alb A G 5: 90,468,509 N291S possibly damaging Het
Ankar T C 1: 72,652,343 D935G possibly damaging Het
Atp13a5 A T 16: 29,251,328 C935* probably null Het
Bivm A T 1: 44,126,446 T19S probably benign Het
Ddah2 C A 17: 35,061,007 D158E possibly damaging Het
Dnah7b C T 1: 46,142,133 T1060I probably benign Het
Efhb T C 17: 53,426,269 T525A probably damaging Het
Exoc3 A G 13: 74,174,144 M604T probably benign Het
Frmpd1 T G 4: 45,285,082 I1301S possibly damaging Het
Gm5269 T C 1: 45,890,075 T2A probably benign Het
Hif3a T A 7: 17,050,761 probably benign Het
Hpgds A T 6: 65,123,637 L119* probably null Het
Iars A G 13: 49,721,100 D750G probably damaging Het
Ift43 T A 12: 86,161,177 D106E probably benign Het
Iqub T A 6: 24,505,910 probably benign Het
Lamb1 A G 12: 31,318,467 K1199E probably benign Het
Mast3 T A 8: 70,786,875 I395F probably damaging Het
Megf8 T C 7: 25,359,782 S2236P probably damaging Het
Met T A 6: 17,491,257 V6E possibly damaging Het
Muc5ac A T 7: 141,795,263 T479S possibly damaging Het
Myo7b T C 18: 31,966,961 T1623A probably benign Het
Neto1 T C 18: 86,473,823 L283P probably damaging Het
Olfr1104 T C 2: 87,022,277 Q89R probably benign Het
Olfr1287 A T 2: 111,449,147 E2D probably benign Het
Olfr720 T C 14: 14,175,483 I200V probably benign Het
Olfr917 G A 9: 38,665,767 P26S possibly damaging Het
Olfr954 T C 9: 39,462,283 V284A probably damaging Het
Onecut1 A G 9: 74,863,030 N245S probably damaging Het
Pkd1l1 A G 11: 8,834,910 V1958A probably benign Het
Plb1 C T 5: 32,353,667 A1292V probably benign Het
Plekha5 A G 6: 140,543,866 E223G probably damaging Het
Rbm25 G A 12: 83,642,726 G47D probably damaging Het
Rif1 T A 2: 52,093,576 M577K probably damaging Het
Scn8a A G 15: 101,008,062 E712G possibly damaging Het
Snx24 A G 18: 53,327,437 N29S probably benign Het
Tmem217 A T 17: 29,526,558 V66D probably damaging Het
Ttn T G 2: 76,767,641 N19643H probably damaging Het
Uimc1 T C 13: 55,030,959 T646A probably benign Het
Other mutations in Pou1f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02086:Pou1f1 APN 16 65529898 missense probably damaging 1.00
IGL02416:Pou1f1 APN 16 65531956 missense probably damaging 1.00
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