Incidental Mutation 'R7803:Tff3'
ID 600643
Institutional Source Beutler Lab
Gene Symbol Tff3
Ensembl Gene ENSMUSG00000024029
Gene Name trefoil factor 3, intestinal
Synonyms ITF, mITF
MMRRC Submission 045858-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R7803 (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 C at 31348544 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 3 (T3A)
Ref Sequence ENSEMBL: ENSMUSP00000024827 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024827]
AlphaFold Q62395
Predicted Effect probably benign
Transcript: ENSMUST00000024827
AA Change: T3A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000024827
Gene: ENSMUSG00000024029
AA Change: T3A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
PD 31 77 2.09e-22 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (49/50)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 C A 19: 34,220,818 (GRCm39) A297S probably benign Het
Ada A G 2: 163,577,288 (GRCm39) Y67H probably benign Het
Adcy9 A G 16: 4,122,244 (GRCm39) I839T probably benign Het
Arg1 C T 10: 24,792,689 (GRCm39) V182I possibly damaging Het
Cbx7 G A 15: 79,818,024 (GRCm39) T26M unknown Het
Ceacam5 A G 7: 17,493,317 (GRCm39) Y780C probably damaging Het
Ces2h A G 8: 105,745,032 (GRCm39) M389V probably benign Het
Chst11 A T 10: 83,027,020 (GRCm39) E149V possibly damaging Het
Clstn1 T C 4: 149,716,328 (GRCm39) W265R probably damaging Het
Col4a4 A G 1: 82,467,419 (GRCm39) probably null Het
Csrp3 T G 7: 48,483,545 (GRCm39) K119T probably benign Het
Ddx39a T C 8: 84,446,229 (GRCm39) probably null Het
Ddx41 A G 13: 55,679,734 (GRCm39) I437T probably damaging Het
Eif1ad4 T A 12: 87,862,269 (GRCm39) C44S probably benign Het
Fbln5 A T 12: 101,728,077 (GRCm39) D282E probably damaging Het
Folh1 G A 7: 86,375,306 (GRCm39) T527I probably damaging Het
Gch1 T A 14: 47,426,418 (GRCm39) T103S probably benign Het
Gpr149 A G 3: 62,438,136 (GRCm39) S674P probably damaging Het
Hecw1 G T 13: 14,408,927 (GRCm39) R1127S probably benign Het
Hmcn1 A T 1: 150,646,030 (GRCm39) C723S probably benign Het
Impg2 T C 16: 56,087,513 (GRCm39) S1111P probably damaging Het
Insl3 T C 8: 72,141,984 (GRCm39) L28P probably damaging Het
Kifc1 T C 17: 34,103,714 (GRCm39) D203G probably benign Het
Kmt2d A T 15: 98,760,804 (GRCm39) S849T unknown Het
Krt33b A G 11: 99,916,084 (GRCm39) probably null Het
Lpin3 A G 2: 160,737,310 (GRCm39) D119G possibly damaging Het
Maml2 AGC AGCCGC 9: 13,532,550 (GRCm39) probably benign Het
Maml2 AGC AGCCGC 9: 13,532,571 (GRCm39) probably benign Het
Maml2 GCA GCACCA 9: 13,532,572 (GRCm39) probably benign Het
Nsun7 T A 5: 66,433,884 (GRCm39) L178* probably null Het
Or6c1b A G 10: 129,272,800 (GRCm39) N40D probably damaging Het
Or6c205 A T 10: 129,086,864 (GRCm39) I154F probably benign Het
Or8g55 A T 9: 39,785,378 (GRCm39) D269V probably benign Het
Orc6 T A 8: 86,030,037 (GRCm39) S136T possibly damaging Het
Peg10 CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC CATC 6: 4,756,431 (GRCm39) probably benign Het
Plxnc1 A G 10: 94,779,377 (GRCm39) probably null Het
Prkdc G A 16: 15,623,960 (GRCm39) D3308N probably null Het
Rtkn2 G A 10: 67,815,643 (GRCm39) probably null Het
Sele T C 1: 163,878,263 (GRCm39) S201P possibly damaging Het
Shq1 A G 6: 100,648,006 (GRCm39) F6S probably damaging Het
Sparc A T 11: 55,300,797 (GRCm39) I5N probably damaging Het
Spata31e3 A G 13: 50,400,226 (GRCm39) V700A probably benign Het
Srm T C 4: 148,678,402 (GRCm39) I238T probably damaging Het
Stx2 C A 5: 129,070,627 (GRCm39) E97* probably null Het
Sugp2 C T 8: 70,704,722 (GRCm39) P753L probably benign Het
Tenm2 A T 11: 35,937,943 (GRCm39) S1578T probably damaging Het
Tmem38a C T 8: 73,325,964 (GRCm39) A6V probably benign Het
Trbv16 G A 6: 41,128,929 (GRCm39) A38T not run Het
Trim30a G A 7: 104,060,604 (GRCm39) Q391* probably null Het
Ttn T G 2: 76,606,715 (GRCm39) Y18065S probably damaging Het
Ubr5 G A 15: 37,980,076 (GRCm39) A2434V probably null Het
Vmn2r24 T A 6: 123,757,438 (GRCm39) M102K probably benign Het
Vmn2r69 G T 7: 85,056,324 (GRCm39) H605N probably benign Het
Washc1 T A 17: 66,426,055 (GRCm39) M451K possibly damaging Het
Washc3 G T 10: 88,051,937 (GRCm39) probably null Het
Washc5 A T 15: 59,240,308 (GRCm39) Y112N probably damaging Het
Zbtb40 T A 4: 136,744,638 (GRCm39) T261S 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
R7126:Tff3 UTSW 17 31,346,410 (GRCm39) missense probably benign 0.04
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'- CTTTCAAGCTCACAGAATGCTC -3'
(R):5'- CATTGATTGACAGATCTGCCATG -3'

Sequencing Primer
(F):5'- CTCTGTGAGCCTAGGTCTTCTG -3'
(R):5'- TGACAGATCTGCCATGGCTGTC -3'
Posted On 2019-11-26