Incidental Mutation 'IGL02797:Foxa2'
ID 359979
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxa2
Ensembl Gene ENSMUSG00000037025
Gene Name forkhead box A2
Synonyms Tcf-3b, HNF3beta, HNF3-beta, Tcf3b, Hnf-3b, Hnf3b
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02797
Quality Score
Status
Chromosome 2
Chromosomal Location 147884797-147888889 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 147886045 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 263 (C263R)
Ref Sequence ENSEMBL: ENSMUSP00000105590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047315] [ENSMUST00000109964] [ENSMUST00000172928]
AlphaFold P35583
Predicted Effect probably benign
Transcript: ENSMUST00000047315
AA Change: C257R

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000045918
Gene: ENSMUSG00000037025
AA Change: C257R

DomainStartEndE-ValueType
low complexity region 30 41 N/A INTRINSIC
low complexity region 44 67 N/A INTRINSIC
low complexity region 74 104 N/A INTRINSIC
low complexity region 113 125 N/A INTRINSIC
FH 157 247 4.77e-62 SMART
low complexity region 262 281 N/A INTRINSIC
low complexity region 326 365 N/A INTRINSIC
Pfam:HNF_C 374 448 1.1e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109964
AA Change: C263R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105590
Gene: ENSMUSG00000037025
AA Change: C263R

DomainStartEndE-ValueType
low complexity region 36 47 N/A INTRINSIC
low complexity region 50 73 N/A INTRINSIC
low complexity region 80 110 N/A INTRINSIC
low complexity region 119 131 N/A INTRINSIC
FH 163 253 4.77e-62 SMART
low complexity region 268 287 N/A INTRINSIC
low complexity region 332 371 N/A INTRINSIC
Pfam:HNF_C 380 454 5.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136555
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146242
Predicted Effect probably benign
Transcript: ENSMUST00000172928
AA Change: C82R

PolyPhen 2 Score 0.305 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000134081
Gene: ENSMUSG00000037025
AA Change: C82R

DomainStartEndE-ValueType
FH 13 72 1.94e-12 SMART
low complexity region 87 106 N/A INTRINSIC
low complexity region 151 190 N/A INTRINSIC
Pfam:HNF_C 199 273 4.8e-26 PFAM
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 forkhead class of DNA-binding proteins. These hepatocyte nuclear factors are transcriptional activators for liver-specific genes 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. This gene has been linked to sporadic cases of maturity-onset diabetes of the young. Transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Embryos homozygous for targeted null mutations fail to form a distinct node, lack a notochord, and die by embryonic day 10 or 11. Mutants also exhibit defects of somite and neural tube organization, and lack a floor plate and motor neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,187,214 (GRCm39) M924T probably benign Het
Afg2a A G 3: 37,512,465 (GRCm39) probably benign Het
B3gat2 A G 1: 23,854,360 (GRCm39) Y218C probably damaging Het
Bcs1l T C 1: 74,629,620 (GRCm39) probably null Het
Cd109 T A 9: 78,568,995 (GRCm39) I358N probably damaging Het
Cd276 T C 9: 58,444,719 (GRCm39) D84G possibly damaging Het
Chsy1 T C 7: 65,821,412 (GRCm39) F549S probably damaging Het
Clca3a2 T C 3: 144,787,024 (GRCm39) N549S probably benign Het
Cma1 A G 14: 56,181,271 (GRCm39) S32P possibly damaging Het
Col23a1 G A 11: 51,452,743 (GRCm39) probably null Het
Ctps1 A T 4: 120,420,021 (GRCm39) I131K probably benign Het
Cyp2w1 T C 5: 139,342,628 (GRCm39) L441P probably damaging Het
Dnajc21 A G 15: 10,461,441 (GRCm39) Y170H probably damaging Het
Eif3a A T 19: 60,761,164 (GRCm39) L648Q probably damaging Het
Eif3l T A 15: 78,959,477 (GRCm39) D6E probably benign Het
Fam228a A T 12: 4,781,484 (GRCm39) L125Q probably damaging Het
Gm17455 A G 10: 60,239,107 (GRCm39) E124G possibly damaging Het
Gpc6 T G 14: 117,163,394 (GRCm39) L16R probably damaging Het
Hdac9 A G 12: 34,443,273 (GRCm39) probably benign Het
Herc3 A G 6: 58,845,679 (GRCm39) N400S probably benign Het
Herc4 G A 10: 63,152,586 (GRCm39) probably null Het
Il12b A G 11: 44,301,180 (GRCm39) probably null Het
Lama4 A G 10: 38,932,920 (GRCm39) R599G probably null Het
Lrp1b T A 2: 41,561,069 (GRCm39) E286V Het
Mink1 C T 11: 70,501,176 (GRCm39) P784S probably damaging Het
Musk T C 4: 58,366,921 (GRCm39) F513S probably benign Het
Nfasc T A 1: 132,538,186 (GRCm39) D474V probably damaging Het
Nhsl3 C T 4: 129,117,104 (GRCm39) R565H probably damaging Het
Nos2 T G 11: 78,831,170 (GRCm39) F420V probably damaging Het
Or52ab2 A T 7: 102,970,058 (GRCm39) I147L probably benign Het
Pcdhb14 A G 18: 37,582,904 (GRCm39) Y670C probably damaging Het
Polr1b A G 2: 128,944,899 (GRCm39) E65G probably damaging Het
Ppp1r10 T G 17: 36,238,904 (GRCm39) probably null Het
Prag1 C T 8: 36,606,655 (GRCm39) R799C probably damaging Het
Prb1c T A 6: 132,340,008 (GRCm39) probably null Het
Ptch1 T C 13: 63,681,421 (GRCm39) N485S probably benign Het
Rgsl1 T C 1: 153,683,454 (GRCm39) T19A probably damaging Het
Sgpl1 A C 10: 60,937,507 (GRCm39) S507A probably benign Het
Sgpp2 A G 1: 78,393,819 (GRCm39) D274G probably benign Het
Skap1 A G 11: 96,603,843 (GRCm39) D211G possibly damaging Het
Smc3 A G 19: 53,627,189 (GRCm39) T830A probably benign Het
Smpd2 G A 10: 41,364,074 (GRCm39) T215I possibly damaging Het
Sntg2 T G 12: 30,276,891 (GRCm39) Y387S possibly damaging Het
Sorl1 T G 9: 41,948,355 (GRCm39) D810A probably damaging Het
Spop T A 11: 95,372,909 (GRCm39) I217N probably damaging Het
Stac2 T C 11: 97,934,345 (GRCm39) R120G possibly damaging Het
Stau1 A T 2: 166,791,266 (GRCm39) *496R probably null Het
Tmeff2 C T 1: 50,967,206 (GRCm39) R34C probably damaging Het
Treml2 C T 17: 48,609,739 (GRCm39) A57V possibly damaging Het
Vmn2r15 T C 5: 109,445,250 (GRCm39) D58G probably benign Het
Vmn2r7 T C 3: 64,598,666 (GRCm39) I721M possibly damaging Het
Vmn2r70 C A 7: 85,208,295 (GRCm39) M727I probably benign Het
Vwa8 T A 14: 79,162,702 (GRCm39) C161S probably benign Het
Other mutations in Foxa2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Foxa2 APN 2 147,886,738 (GRCm39) missense possibly damaging 0.93
IGL02560:Foxa2 APN 2 147,885,951 (GRCm39) missense probably benign 0.40
R6768_Foxa2_027 UTSW 2 147,885,747 (GRCm39) missense probably damaging 0.97
R0116:Foxa2 UTSW 2 147,885,481 (GRCm39) missense probably damaging 0.99
R2252:Foxa2 UTSW 2 147,886,086 (GRCm39) missense probably damaging 0.98
R4334:Foxa2 UTSW 2 147,886,623 (GRCm39) missense possibly damaging 0.85
R5293:Foxa2 UTSW 2 147,885,922 (GRCm39) missense probably benign 0.09
R5339:Foxa2 UTSW 2 147,886,354 (GRCm39) missense probably damaging 1.00
R6768:Foxa2 UTSW 2 147,885,747 (GRCm39) missense probably damaging 0.97
R8036:Foxa2 UTSW 2 147,885,909 (GRCm39) missense probably benign
R8137:Foxa2 UTSW 2 147,885,768 (GRCm39) missense probably benign
R8993:Foxa2 UTSW 2 147,886,626 (GRCm39) missense probably benign 0.28
R9091:Foxa2 UTSW 2 147,886,426 (GRCm39) missense probably benign 0.05
R9270:Foxa2 UTSW 2 147,886,426 (GRCm39) missense probably benign 0.05
R9648:Foxa2 UTSW 2 147,887,799 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18