Incidental Mutation 'R8986:Pou4f1'
ID 684053
Institutional Source Beutler Lab
Gene Symbol Pou4f1
Ensembl Gene ENSMUSG00000048349
Gene Name POU domain, class 4, transcription factor 1
Synonyms Brn-3, E130119J07Rik, Brn3, Brn3a, Brn-3.0
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8986 (G1)
Quality Score 136.008
Status Validated
Chromosome 14
Chromosomal Location 104699112-104705435 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 104704087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 115 (D115G)
Ref Sequence ENSEMBL: ENSMUSP00000060798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053016]
AlphaFold P17208
Predicted Effect probably damaging
Transcript: ENSMUST00000053016
AA Change: D115G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060798
Gene: ENSMUSG00000048349
AA Change: D115G

DomainStartEndE-ValueType
low complexity region 50 68 N/A INTRINSIC
Blast:POU 77 98 2e-6 BLAST
low complexity region 129 187 N/A INTRINSIC
low complexity region 190 204 N/A INTRINSIC
low complexity region 220 259 N/A INTRINSIC
POU 262 339 3.7e-55 SMART
HOX 357 419 5.1e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene die within the first day after birth and display various abnormalities in the brain and cranial nerves. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Adamts10 C T 17: 33,762,668 (GRCm39) A549V probably benign Het
Akap13 T C 7: 75,259,074 (GRCm39) M566T probably benign Het
Alb A G 5: 90,615,225 (GRCm39) T246A probably benign Het
Cyfip1 C T 7: 55,558,140 (GRCm39) R806C probably damaging Het
Cyp11a1 T A 9: 57,925,644 (GRCm39) I195N probably damaging Het
Dclre1a C G 19: 56,526,826 (GRCm39) Q863H Het
Ddx19a A G 8: 111,705,188 (GRCm39) V311A probably benign Het
Dnajc13 A T 9: 104,057,330 (GRCm39) F1557I probably damaging Het
Eml6 T A 11: 29,755,181 (GRCm39) T865S possibly damaging Het
Esrrg T A 1: 187,943,104 (GRCm39) I382K possibly damaging Het
Fam149a G A 8: 45,811,837 (GRCm39) T22M Het
Fam227b A T 2: 125,958,019 (GRCm39) Y249N probably damaging Het
Fanci G A 7: 79,095,472 (GRCm39) V1217I probably benign Het
Fermt2 A G 14: 45,742,023 (GRCm39) Y108H probably benign Het
Gkn1 A T 6: 87,325,160 (GRCm39) V83E probably damaging Het
Glmp T A 3: 88,233,002 (GRCm39) S47T probably benign Het
Greb1 T C 12: 16,734,457 (GRCm39) H1511R probably damaging Het
Grid1 G A 14: 35,043,664 (GRCm39) D340N probably damaging Het
Htra3 A T 5: 35,836,372 (GRCm39) C107S probably damaging Het
Ighv1-58 T C 12: 115,275,835 (GRCm39) Q101R probably benign Het
Ighv6-5 A T 12: 114,380,382 (GRCm39) L45* probably null Het
Igtp T A 11: 58,096,947 (GRCm39) probably null Het
Il1rap T C 16: 26,533,696 (GRCm39) S531P probably damaging Het
Kcnd3 A T 3: 105,367,039 (GRCm39) H303L probably damaging Het
Kcnj3 G T 2: 55,485,039 (GRCm39) S379I probably benign Het
Lrrc36 T C 8: 106,176,093 (GRCm39) S156P possibly damaging Het
Mical3 G T 6: 120,991,822 (GRCm39) D250E Het
Msh3 T C 13: 92,483,334 (GRCm39) T270A probably damaging Het
Myrfl A G 10: 116,658,746 (GRCm39) W404R probably damaging Het
Nol7 T C 13: 43,554,985 (GRCm39) F206S probably damaging Het
Obi1 T C 14: 104,745,418 (GRCm39) H86R probably damaging Het
Or12e13 A T 2: 87,663,655 (GRCm39) I91F possibly damaging Het
Or2ag1 A G 7: 106,473,050 (GRCm39) I134T probably benign Het
Paox A G 7: 139,706,503 (GRCm39) E141G probably benign Het
Plod1 A T 4: 147,997,734 (GRCm39) H658Q probably damaging Het
Ppp1r26 G T 2: 28,342,802 (GRCm39) E811* probably null Het
Qsox1 C T 1: 155,666,829 (GRCm39) R220K probably damaging Het
Rabgap1l C T 1: 160,085,105 (GRCm39) V781I probably damaging Het
Rad50 T C 11: 53,541,354 (GRCm39) D1294G possibly damaging Het
Rbp7 C T 4: 149,537,371 (GRCm39) V97I probably benign Het
Rrad C T 8: 105,355,222 (GRCm39) R262Q possibly damaging Het
Sdcbp2 T C 2: 151,429,150 (GRCm39) V183A probably benign Het
Slfn2 C G 11: 82,960,427 (GRCm39) I135M possibly damaging Het
Sntg1 T A 1: 8,484,491 (GRCm39) D443V possibly damaging Het
Tas2r105 G A 6: 131,663,913 (GRCm39) Q172* probably null Het
Tfdp2 A G 9: 96,172,637 (GRCm39) R44G probably damaging Het
Thbd A T 2: 148,248,480 (GRCm39) C463S probably damaging Het
Tnxb T C 17: 34,897,646 (GRCm39) V807A possibly damaging Het
Trim68 T A 7: 102,327,808 (GRCm39) K382* probably null Het
Vmn2r110 T A 17: 20,803,823 (GRCm39) I251F probably damaging Het
Vmn2r61 A T 7: 41,915,325 (GRCm39) R91* probably null Het
Vmn2r-ps117 G A 17: 19,044,943 (GRCm39) W453* probably null Het
Zc3h18 T C 8: 123,134,193 (GRCm39) V553A unknown Het
Zfp609 C T 9: 65,610,561 (GRCm39) A801T possibly damaging Het
Zfp791 A G 8: 85,837,327 (GRCm39) F179S probably benign Het
Zyg11a A T 4: 108,041,628 (GRCm39) probably null Het
Other mutations in Pou4f1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1549:Pou4f1 UTSW 14 104,705,076 (GRCm39) missense probably benign 0.30
R3898:Pou4f1 UTSW 14 104,703,165 (GRCm39) makesense probably null
R3911:Pou4f1 UTSW 14 104,703,611 (GRCm39) missense unknown
R4155:Pou4f1 UTSW 14 104,705,153 (GRCm39) missense possibly damaging 0.93
R4984:Pou4f1 UTSW 14 104,703,619 (GRCm39) missense unknown
R5731:Pou4f1 UTSW 14 104,703,347 (GRCm39) missense unknown
R7787:Pou4f1 UTSW 14 104,703,460 (GRCm39) missense unknown
R7886:Pou4f1 UTSW 14 104,704,228 (GRCm39) missense probably damaging 0.99
R9070:Pou4f1 UTSW 14 104,704,067 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- GATCTTGAGGTTGGCCAGCG -3'
(R):5'- CAGAGCAACCTCTTCGCCAG -3'

Sequencing Primer
(F):5'- ACGGCATGTTCATGGCC -3'
(R):5'- AACCTCTTCGCCAGCCTGG -3'
Posted On 2021-10-11