Incidental Mutation 'R8128:Foxa3'
ID 652004
Institutional Source Beutler Lab
Gene Symbol Foxa3
Ensembl Gene ENSMUSG00000040891
Gene Name forkhead box A3
Synonyms Tcf-3g, Hnf3g, Tcf3g, Hnf-3g
MMRRC Submission 067557-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8128 (G1)
Quality Score 41.0074
Status Validated
Chromosome 7
Chromosomal Location 18747209-18757463 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 18757341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000043173 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023882] [ENSMUST00000036018] [ENSMUST00000146903] [ENSMUST00000153976]
AlphaFold P35584
Predicted Effect probably benign
Transcript: ENSMUST00000023882
SMART Domains Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118

DomainStartEndE-ValueType
low complexity region 106 118 N/A INTRINSIC
Pfam:DUF3453 119 352 1.1e-63 PFAM
low complexity region 473 485 N/A INTRINSIC
Pfam:Symplekin_C 887 1068 4.3e-78 PFAM
low complexity region 1123 1149 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000036018
AA Change: M1K

PolyPhen 2 Score 0.771 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043173
Gene: ENSMUSG00000040891
AA Change: M1K

DomainStartEndE-ValueType
low complexity region 59 93 N/A INTRINSIC
FH 117 207 5.48e-62 SMART
low complexity region 226 267 N/A INTRINSIC
Pfam:HNF_C 304 332 1.9e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146903
SMART Domains Protein: ENSMUSP00000138740
Gene: ENSMUSG00000023118

DomainStartEndE-ValueType
Pfam:DUF3453 117 230 1.1e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153976
SMART Domains Protein: ENSMUSP00000121540
Gene: ENSMUSG00000023118

DomainStartEndE-ValueType
Pfam:Cohesin_HEAT 48 96 9e-7 PFAM
Pfam:DUF3453 117 198 2.2e-24 PFAM
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.9%
  • 20x: 96.6%
Validation Efficiency 98% (42/43)
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 forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific transcripts such as albumin and transthyretin, and they also interact with chromatin. Similar family members in mice have roles in the regulation of metabolism and in the differentiation of the pancreas and liver. The crystal structure of a similar protein in rat has been resolved. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced expression of several liver-specific and liver-enriched genes, but appear to be phenotypically normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 9,008,395 (GRCm39) R1188G probably damaging Het
Abcc5 G A 16: 20,184,473 (GRCm39) R1036C probably damaging Het
Arhgap22 T A 14: 33,089,042 (GRCm39) F508I probably benign Het
Bahcc1 C T 11: 120,163,216 (GRCm39) Q505* probably null Het
Birc6 T A 17: 74,916,253 (GRCm39) L1723Q probably damaging Het
Caprin2 A G 6: 148,784,940 (GRCm39) probably null Het
Cfap69 C A 5: 5,646,034 (GRCm39) M555I probably benign Het
Cgn C T 3: 94,676,691 (GRCm39) A773T probably benign Het
Cnot7 A G 8: 40,963,129 (GRCm39) V15A probably damaging Het
Col7a1 A G 9: 108,784,789 (GRCm39) R206G unknown Het
Dscam C A 16: 96,602,374 (GRCm39) probably null Het
Eif3k A T 7: 28,679,742 (GRCm39) probably benign Het
Epn2 G T 11: 61,413,321 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,568 (GRCm39) D215G probably benign Het
Glyctk T C 9: 106,032,501 (GRCm39) H504R probably benign Het
Grin3b T C 10: 79,812,944 (GRCm39) L394P Het
Hgh1 A G 15: 76,254,581 (GRCm39) Y319C probably damaging Het
Hk1 T C 10: 62,117,622 (GRCm39) T635A probably benign Het
Igsf3 T A 3: 101,346,947 (GRCm39) N627K probably damaging Het
Lmtk3 G T 7: 45,443,598 (GRCm39) M760I Het
Lrp1b G A 2: 41,159,248 (GRCm39) A1678V probably null Het
Lrrc8c A T 5: 105,755,488 (GRCm39) N421I probably damaging Het
Mfsd13b C A 7: 120,590,495 (GRCm39) R79S possibly damaging Het
Or1q1 A T 2: 36,887,673 (GRCm39) M284L probably benign Het
Or5p50 A C 7: 107,422,632 (GRCm39) F15V probably damaging Het
Pappa2 T C 1: 158,764,234 (GRCm39) T426A possibly damaging Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Pkhd1l1 A T 15: 44,361,449 (GRCm39) I500F possibly damaging Het
Polr3gl T A 3: 96,487,824 (GRCm39) probably null Het
Psmg3 A G 5: 139,809,788 (GRCm39) V86A probably damaging Het
Ptgs2 T A 1: 149,977,099 (GRCm39) V102E probably damaging Het
Rhpn1 T C 15: 75,583,032 (GRCm39) probably null Het
Scand1 T C 2: 156,153,961 (GRCm39) D103G probably damaging Het
Serpinb6d T C 13: 33,850,383 (GRCm39) I70T possibly damaging Het
Slco3a1 A T 7: 73,934,049 (GRCm39) S708T probably damaging Het
Sprr2d G A 3: 92,247,760 (GRCm39) C67Y unknown Het
Taf2 G A 15: 54,923,384 (GRCm39) R298C probably damaging Het
Trafd1 G T 5: 121,510,465 (GRCm39) P567Q possibly damaging Het
Trim32 A G 4: 65,531,682 (GRCm39) N80D probably damaging Het
Vmn1r193 A G 13: 22,403,113 (GRCm39) L293S probably damaging Het
Vmn2r12 A T 5: 109,239,747 (GRCm39) M272K possibly damaging Het
Vmn2r90 T A 17: 17,954,155 (GRCm39) L773Q probably damaging Het
Other mutations in Foxa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01823:Foxa3 APN 7 18,748,443 (GRCm39) missense probably benign
R0378:Foxa3 UTSW 7 18,757,294 (GRCm39) missense probably damaging 1.00
R1833:Foxa3 UTSW 7 18,748,499 (GRCm39) missense probably damaging 1.00
R2159:Foxa3 UTSW 7 18,748,109 (GRCm39) missense probably benign 0.40
R2877:Foxa3 UTSW 7 18,748,805 (GRCm39) missense probably benign 0.38
R4666:Foxa3 UTSW 7 18,748,297 (GRCm39) nonsense probably null
R5533:Foxa3 UTSW 7 18,748,940 (GRCm39) nonsense probably null
R5669:Foxa3 UTSW 7 18,748,176 (GRCm39) missense probably benign 0.41
R7339:Foxa3 UTSW 7 18,748,794 (GRCm39) missense probably damaging 1.00
R8329:Foxa3 UTSW 7 18,748,109 (GRCm39) missense probably benign 0.40
R9232:Foxa3 UTSW 7 18,748,790 (GRCm39) missense probably damaging 1.00
R9305:Foxa3 UTSW 7 18,748,961 (GRCm39) missense possibly damaging 0.82
R9627:Foxa3 UTSW 7 18,748,458 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCACACCTAGAATCTGTGTC -3'
(R):5'- CTCTTCTTGAGATCCCGCAG -3'

Sequencing Primer
(F):5'- ACACCTAGAATCTGTGTCCTCAGG -3'
(R):5'- CCGGCTATAAAAAGTGGC -3'
Posted On 2020-09-18