Incidental Mutation 'R7126:Tff3'
ID 552355
Institutional Source Beutler Lab
Gene Symbol Tff3
Ensembl Gene ENSMUSG00000024029
Gene Name trefoil factor 3, intestinal
Synonyms ITF, mITF
MMRRC Submission 045213-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.064) question?
Stock # R7126 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 31344280-31348585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 31346410 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Threonine at position 54 (N54T)
Ref Sequence ENSEMBL: ENSMUSP00000024827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024827]
AlphaFold Q62395
Predicted Effect probably benign
Transcript: ENSMUST00000024827
AA Change: N54T

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000024827
Gene: ENSMUSG00000024029
AA Change: N54T

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
PD 31 77 2.09e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (73/75)
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. This gene is expressed in goblet cells of the intestines and colon. 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 impaired intestinal mucosal healing and death from colitis after administration of dextran sulfate sodium. Mice show poor epithelial regeneration after injury. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,535,988 (GRCm39) C85R unknown Het
3110082I17Rik G T 5: 139,347,005 (GRCm39) H153Q unknown Het
Acadsb T C 7: 131,039,177 (GRCm39) I316T probably benign Het
Acsbg2 A T 17: 57,153,633 (GRCm39) N523K probably damaging Het
Ahnak C T 19: 8,979,723 (GRCm39) P336S possibly damaging Het
Ankdd1b A G 13: 96,566,370 (GRCm39) V277A possibly damaging Het
Aspm A G 1: 139,408,541 (GRCm39) Y2476C probably benign Het
Atg13 G A 2: 91,510,765 (GRCm39) R321W probably damaging Het
B4galt2 A G 4: 117,734,735 (GRCm39) F211S probably damaging Het
Baiap3 T A 17: 25,464,119 (GRCm39) T913S possibly damaging Het
Btbd18 A T 2: 84,496,546 (GRCm39) E61D possibly damaging Het
Btnl9 G T 11: 49,060,082 (GRCm39) S555R probably damaging Het
Cbs T A 17: 31,838,113 (GRCm39) M379L probably benign Het
Chd9 G A 8: 91,741,853 (GRCm39) G1614D unknown Het
Cmya5 G A 13: 93,226,448 (GRCm39) P2880L probably benign Het
Cnnm1 T C 19: 43,473,292 (GRCm39) S729P probably damaging Het
Cox16 T A 12: 81,518,940 (GRCm39) E70D probably benign Het
Cp A G 3: 20,034,788 (GRCm39) H699R probably damaging Het
Cyp2d26 T C 15: 82,678,209 (GRCm39) N56D probably benign Het
Dennd4c A G 4: 86,725,667 (GRCm39) Y707C probably damaging Het
Dnah5 A T 15: 28,349,983 (GRCm39) E2555D probably benign Het
Ess2 T C 16: 17,729,154 (GRCm39) T6A unknown Het
Filip1 A G 9: 79,805,577 (GRCm39) L59P possibly damaging Het
Fsip2 A G 2: 82,813,485 (GRCm39) N3268S possibly damaging Het
Gja10 A T 4: 32,601,014 (GRCm39) C457S probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Grep1 C T 17: 23,939,538 (GRCm39) V8I probably benign Het
Grid2 T A 6: 64,053,794 (GRCm39) V331E probably damaging Het
Inpp4a C A 1: 37,413,353 (GRCm39) H123Q probably benign Het
Ireb2 T A 9: 54,793,851 (GRCm39) Y260* probably null Het
Itpr2 G A 6: 146,259,294 (GRCm39) Q628* probably null Het
Kbtbd11 G A 8: 15,078,759 (GRCm39) A453T probably damaging Het
Kcnj2 A G 11: 110,963,648 (GRCm39) T347A probably damaging Het
Kif19b A T 5: 140,477,073 (GRCm39) D874V probably benign Het
Klhl12 A G 1: 134,395,521 (GRCm39) H161R probably damaging Het
Krt78 T C 15: 101,856,871 (GRCm39) E412G probably damaging Het
Lzic A G 4: 149,573,132 (GRCm39) I95V probably damaging Het
Mme C T 3: 63,276,322 (GRCm39) P700S probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mthfd2 A G 6: 83,290,472 (GRCm39) V53A probably benign Het
Mtus1 A G 8: 41,468,439 (GRCm39) L210P probably damaging Het
Muc16 T C 9: 18,552,512 (GRCm39) T4594A probably benign Het
Niban1 T A 1: 151,590,318 (GRCm39) C537* probably null Het
Olfm5 A T 7: 103,809,187 (GRCm39) C208S probably damaging Het
Or10q1 T A 19: 13,726,887 (GRCm39) I139N possibly damaging Het
Or2ad1 A T 13: 21,326,888 (GRCm39) L113H probably damaging Het
Or7a39 T C 10: 78,715,411 (GRCm39) V135A possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Plin1 T C 7: 79,376,412 (GRCm39) probably null Het
Prl7a1 C T 13: 27,826,402 (GRCm39) probably null Het
Ptpn23 T C 9: 110,217,812 (GRCm39) D711G probably benign Het
Rgs22 A T 15: 36,103,954 (GRCm39) I169N probably damaging Het
Scn7a G T 2: 66,587,630 (GRCm39) H24Q possibly damaging Het
Scrt2 C T 2: 151,935,006 (GRCm39) P53L probably damaging Het
Sh3rf1 A T 8: 61,802,458 (GRCm39) I264L probably benign Het
Smarcd1 A T 15: 99,607,206 (GRCm39) D393V probably damaging Het
Spag17 T G 3: 100,008,751 (GRCm39) N1960K probably benign Het
Ssb A G 2: 69,696,845 (GRCm39) T62A possibly damaging Het
Taar7b T A 10: 23,875,960 (GRCm39) Y42N possibly damaging Het
Terf1 A T 1: 15,883,363 (GRCm39) I159L probably benign Het
Top2a A G 11: 98,905,818 (GRCm39) L285P probably benign Het
Trim24 A G 6: 37,896,392 (GRCm39) Y283C probably damaging Het
Trim58 T C 11: 58,531,405 (GRCm39) C38R probably damaging Het
Trpa1 T A 1: 14,960,648 (GRCm39) T647S probably benign Het
Trpm4 A T 7: 44,960,133 (GRCm39) probably null Het
Trpm6 C T 19: 18,831,397 (GRCm39) Q1421* probably null Het
Ubr2 A T 17: 47,284,982 (GRCm39) probably null Het
Vmn1r46 T G 6: 89,953,976 (GRCm39) I275S possibly damaging Het
Vmn2r54 A G 7: 12,366,088 (GRCm39) F282S possibly damaging Het
Vmn2r57 A G 7: 41,049,218 (GRCm39) S844P possibly damaging Het
Vps13a A C 19: 16,688,243 (GRCm39) C855G probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L probably benign Het
Other mutations in Tff3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4590:Tff3 UTSW 17 31,348,508 (GRCm39) missense probably benign 0.00
R4738:Tff3 UTSW 17 31,346,483 (GRCm39) missense probably benign 0.02
R5593:Tff3 UTSW 17 31,348,516 (GRCm39) missense probably benign 0.04
R7803:Tff3 UTSW 17 31,348,544 (GRCm39) missense probably benign 0.00
R8529:Tff3 UTSW 17 31,348,460 (GRCm39) splice site probably null
R9342:Tff3 UTSW 17 31,346,423 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCTGATATGAGGTGTCACC -3'
(R):5'- CGTCATTTCCCAATAGACTGC -3'

Sequencing Primer
(F):5'- TCACCAAGGAATACTGGTGATAC -3'
(R):5'- ATGTCATTCCTCTGAACCCAGG -3'
Posted On 2019-05-15