Incidental Mutation 'IGL01486:Tff2'
ID 88750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tff2
Ensembl Gene ENSMUSG00000024028
Gene Name trefoil factor 2 (spasmolytic protein 1)
Synonyms SP, mSP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL01486
Quality Score
Status
Chromosome 17
Chromosomal Location 31360036-31363256 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31361316 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 79 (E79A)
Ref Sequence ENSEMBL: ENSMUSP00000024826 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024826]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000024826
AA Change: E79A

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024826
Gene: ENSMUSG00000024028
AA Change: E79A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
PD 29 76 1.44e-16 SMART
PD 79 125 6.94e-19 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. The encoded protein inhibits gastric acid secretion. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in decreased gastric proliferation, increased acid secretion, increased susceptibility to gastric ulceration after indomethacin administration, and altered regulation of genes involved in adaptive and immune responses in the pyloric antrum. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx3 G T 3: 107,512,139 (GRCm39) C259F probably damaging Het
Ampd3 G T 7: 110,409,123 (GRCm39) probably benign Het
Atm T C 9: 53,421,513 (GRCm39) I733V probably benign Het
Chrd A G 16: 20,552,890 (GRCm39) probably null Het
Ckm G A 7: 19,155,156 (GRCm39) G262S probably damaging Het
Fbn1 A G 2: 125,231,898 (GRCm39) V412A probably benign Het
Fbxw22 G T 9: 109,207,941 (GRCm39) S443R probably damaging Het
Hdgfl2 G T 17: 56,405,733 (GRCm39) A481S possibly damaging Het
Hmcn2 G A 2: 31,226,633 (GRCm39) V203M probably damaging Het
Kdelr3 T A 15: 79,407,048 (GRCm39) V43D probably damaging Het
Klk1b8 A G 7: 43,453,113 (GRCm39) K235E probably benign Het
Macir A T 1: 97,573,731 (GRCm39) S111R probably damaging Het
Mapk1 A T 16: 16,836,144 (GRCm39) probably benign Het
Nfic T C 10: 81,243,478 (GRCm39) probably null Het
Pkd1l2 T C 8: 117,786,331 (GRCm39) T625A probably benign Het
Psd2 A G 18: 36,113,388 (GRCm39) S287G probably benign Het
Smap2 A T 4: 120,830,395 (GRCm39) F247I probably damaging Het
Spata4 T C 8: 55,055,341 (GRCm39) probably benign Het
Thsd7a C T 6: 12,471,079 (GRCm39) C513Y probably damaging Het
Tshz1 A G 18: 84,031,634 (GRCm39) S925P possibly damaging Het
Xrcc4 C A 13: 90,210,151 (GRCm39) E98* probably null Het
Ypel3 A G 7: 126,377,033 (GRCm39) T38A probably damaging Het
Zfhx2 C T 14: 55,304,547 (GRCm39) G1146R probably damaging Het
Zfp446 T A 7: 12,713,307 (GRCm39) probably null Het
Other mutations in Tff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01434:Tff2 APN 17 31,362,240 (GRCm39) splice site probably null
R1270:Tff2 UTSW 17 31,363,143 (GRCm39) critical splice donor site probably null
R2054:Tff2 UTSW 17 31,362,199 (GRCm39) missense probably benign 0.02
R2107:Tff2 UTSW 17 31,361,256 (GRCm39) missense possibly damaging 0.50
R6163:Tff2 UTSW 17 31,363,152 (GRCm39) missense probably benign 0.25
R6754:Tff2 UTSW 17 31,363,207 (GRCm39) missense probably benign 0.06
R7187:Tff2 UTSW 17 31,361,200 (GRCm39) missense probably damaging 1.00
R8899:Tff2 UTSW 17 31,362,113 (GRCm39) nonsense probably null
Posted On 2013-11-18