Incidental Mutation 'R5060:Tff1'
ID 386581
Institutional Source Beutler Lab
Gene Symbol Tff1
Ensembl Gene ENSMUSG00000024032
Gene Name trefoil factor 1
Synonyms Bcei, PS2
MMRRC Submission 042650-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5060 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 31380369-31384034 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31381682 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 65 (V65A)
Ref Sequence ENSEMBL: ENSMUSP00000024831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024831]
AlphaFold Q08423
Predicted Effect probably damaging
Transcript: ENSMUST00000024831
AA Change: V65A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000024831
Gene: ENSMUSG00000024032
AA Change: V65A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
PD 32 78 5.34e-20 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146320
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148215
Meta Mutation Damage Score 0.4235 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.9%
Validation Efficiency 98% (52/53)
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, which is expressed in the gastric mucosa, has also been studied because of its expression in human tumors. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele exhibit small intestine and gastric mucosa abnormalities and develop antropyloric adenomas with full penetrance; one-third of homozygotes develop multifocal intraepithelial or intramucosal carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A T 17: 48,474,107 (GRCm39) L17Q probably damaging Het
Abca6 A G 11: 110,110,430 (GRCm39) V573A possibly damaging Het
Abcc9 A G 6: 142,571,836 (GRCm39) probably benign Het
Actg1 A G 11: 120,237,839 (GRCm39) S234P probably benign Het
Acvr2a A G 2: 48,780,311 (GRCm39) D177G probably damaging Het
Adamts12 T C 15: 11,300,054 (GRCm39) C914R probably damaging Het
Adprhl1 A G 8: 13,298,621 (GRCm39) I103T possibly damaging Het
Als2cl C T 9: 110,713,205 (GRCm39) L32F probably damaging Het
Ank2 T C 3: 126,739,570 (GRCm39) probably benign Het
Ankrd52 T A 10: 128,225,710 (GRCm39) S959R possibly damaging Het
Bnc2 C A 4: 84,449,872 (GRCm39) A122S probably benign Het
Cert1 A T 13: 96,739,663 (GRCm39) K226N probably benign Het
Cfap54 C T 10: 92,875,013 (GRCm39) V443M probably damaging Het
Cilk1 C T 9: 78,060,978 (GRCm39) T208I probably benign Het
Clca4b T A 3: 144,617,267 (GRCm39) R794S probably damaging Het
Cyp2c65 T C 19: 39,049,514 (GRCm39) L14P unknown Het
Ggt5 T C 10: 75,440,608 (GRCm39) M243T probably benign Het
Gmds A G 13: 32,124,482 (GRCm39) I292T probably benign Het
Gpcpd1 A T 2: 132,386,355 (GRCm39) V341E probably damaging Het
Grm3 A G 5: 9,620,167 (GRCm39) F359S probably damaging Het
Hcn1 A T 13: 118,010,441 (GRCm39) K340* probably null Het
Heatr9 T C 11: 83,403,258 (GRCm39) E427G probably benign Het
Kif26b G A 1: 178,358,195 (GRCm39) G102D unknown Het
Mark3 T C 12: 111,584,760 (GRCm39) F119L probably damaging Het
Melk T C 4: 44,350,959 (GRCm39) V500A probably benign Het
Mrpl41 A G 2: 24,864,295 (GRCm39) F126L probably damaging Het
Or10c1 C A 17: 37,522,307 (GRCm39) A146S probably benign Het
Or6c3b C T 10: 129,527,699 (GRCm39) M70I probably benign Het
Pax7 A T 4: 139,506,928 (GRCm39) S372T probably benign Het
Pax7 A T 4: 139,556,906 (GRCm39) I118N probably damaging Het
Plcl1 G T 1: 55,735,671 (GRCm39) M337I possibly damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Rabgef1 A G 5: 130,240,844 (GRCm39) Y321C probably damaging Het
Rhobtb3 A C 13: 76,061,389 (GRCm39) L252R probably benign Het
Rlf A G 4: 121,004,063 (GRCm39) V1639A probably benign Het
Trpm4 G T 7: 44,971,258 (GRCm39) D222E probably damaging Het
Ttn A T 2: 76,643,741 (GRCm39) D13162E probably damaging Het
Unc5d A T 8: 29,209,723 (GRCm39) S466T probably benign Het
Vmn1r73 A G 7: 11,490,683 (GRCm39) Y167C probably damaging Het
Vwde C T 6: 13,208,323 (GRCm39) probably null Het
Xpr1 T C 1: 155,204,430 (GRCm39) probably null Het
Zbtb40 A G 4: 136,728,604 (GRCm39) V413A possibly damaging Het
Other mutations in Tff1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01611:Tff1 APN 17 31,381,703 (GRCm39) missense probably damaging 0.98
R1803:Tff1 UTSW 17 31,380,560 (GRCm39) nonsense probably null
R1897:Tff1 UTSW 17 31,383,912 (GRCm39) missense probably benign
R7153:Tff1 UTSW 17 31,381,772 (GRCm39) missense probably benign 0.00
R9775:Tff1 UTSW 17 31,383,972 (GRCm39) missense probably benign 0.02
RF009:Tff1 UTSW 17 31,383,901 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- GAGCCCTTTCTTTGCCAGAC -3'
(R):5'- GGCGTCCTGTTTCCTCATAG -3'

Sequencing Primer
(F):5'- GACCTGGATTCAGCTATGTCACAG -3'
(R):5'- CGTCCTGTTTCCTCATAGAAGGAAG -3'
Posted On 2016-06-06