Incidental Mutation 'IGL00696:Foxa1'
ID 13482
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Foxa1
Ensembl Gene ENSMUSG00000035451
Gene Name forkhead box A1
Synonyms Tcf3a, Hnf3a, Tcf-3a, Hnf-3a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00696
Quality Score
Status
Chromosome 12
Chromosomal Location 57587414-57593702 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57589443 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 259 (Y259C)
Ref Sequence ENSEMBL: ENSMUSP00000041118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044380]
AlphaFold P35582
Predicted Effect probably damaging
Transcript: ENSMUST00000044380
AA Change: Y259C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041118
Gene: ENSMUSG00000035451
AA Change: Y259C

DomainStartEndE-ValueType
low complexity region 32 60 N/A INTRINSIC
low complexity region 96 107 N/A INTRINSIC
FH 168 258 3.88e-62 SMART
low complexity region 273 286 N/A INTRINSIC
low complexity region 318 328 N/A INTRINSIC
low complexity region 347 365 N/A INTRINSIC
Pfam:HNF_C 393 457 1.3e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218398
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 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. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit abnormal feeding, hypoglycemia, impaired glucagon secretion, hypotryglyceridemia, wasting, and lethality between postnatal days 2 and 14. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik A G 1: 120,099,156 (GRCm39) E83G probably damaging Het
C1galt1 T C 6: 7,866,475 (GRCm39) V107A probably damaging Het
Dnah9 T C 11: 65,732,064 (GRCm39) probably benign Het
Dnm1l A G 16: 16,160,579 (GRCm39) S91P probably benign Het
Efl1 G A 7: 82,301,080 (GRCm39) probably benign Het
Inpp5b T G 4: 124,636,328 (GRCm39) M1R probably null Het
Magea5 A G X: 153,836,432 (GRCm39) F320S possibly damaging Het
Megf8 A G 7: 25,041,817 (GRCm39) I1244V probably benign Het
Scgb3a2 T A 18: 43,900,094 (GRCm39) probably benign Het
Spats2 A G 15: 99,108,775 (GRCm39) K375R probably damaging Het
Other mutations in Foxa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02371:Foxa1 APN 12 57,589,486 (GRCm39) missense probably damaging 0.98
IGL03150:Foxa1 APN 12 57,589,082 (GRCm39) missense probably benign 0.41
PIT4377001:Foxa1 UTSW 12 57,589,567 (GRCm39) missense probably damaging 1.00
R1347:Foxa1 UTSW 12 57,589,070 (GRCm39) missense probably damaging 0.99
R1347:Foxa1 UTSW 12 57,589,070 (GRCm39) missense probably damaging 0.99
R1494:Foxa1 UTSW 12 57,588,984 (GRCm39) missense probably damaging 0.99
R1598:Foxa1 UTSW 12 57,589,473 (GRCm39) missense possibly damaging 0.69
R1809:Foxa1 UTSW 12 57,589,527 (GRCm39) missense probably damaging 1.00
R5554:Foxa1 UTSW 12 57,589,077 (GRCm39) missense probably benign 0.00
R5667:Foxa1 UTSW 12 57,589,081 (GRCm39) missense probably benign 0.01
R5782:Foxa1 UTSW 12 57,589,302 (GRCm39) missense probably benign 0.00
R6174:Foxa1 UTSW 12 57,589,686 (GRCm39) missense probably damaging 1.00
R6750:Foxa1 UTSW 12 57,589,396 (GRCm39) missense probably benign 0.32
R6781:Foxa1 UTSW 12 57,590,043 (GRCm39) missense possibly damaging 0.74
R6995:Foxa1 UTSW 12 57,589,264 (GRCm39) missense probably benign 0.00
R7209:Foxa1 UTSW 12 57,590,077 (GRCm39) missense probably benign 0.03
R7864:Foxa1 UTSW 12 57,589,533 (GRCm39) missense probably damaging 1.00
R8257:Foxa1 UTSW 12 57,589,932 (GRCm39) missense probably benign 0.22
R8464:Foxa1 UTSW 12 57,589,246 (GRCm39) missense probably benign 0.00
X0020:Foxa1 UTSW 12 57,590,098 (GRCm39) missense possibly damaging 0.73
Z1177:Foxa1 UTSW 12 57,589,203 (GRCm39) missense probably benign 0.09
Posted On 2012-12-06