Incidental Mutation 'R7696:Tmem114'
ID 593677
Institutional Source Beutler Lab
Gene Symbol Tmem114
Ensembl Gene ENSMUSG00000022715
Gene Name transmembrane protein 114
Synonyms Cldn26, 4930511J11Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7696 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 8227140-8243000 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8242353 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 55 (R55H)
Ref Sequence ENSEMBL: ENSMUSP00000023400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023400]
AlphaFold Q9D563
Predicted Effect probably benign
Transcript: ENSMUST00000023400
AA Change: R55H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000023400
Gene: ENSMUSG00000022715
AA Change: R55H

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 5 205 6.4e-20 PFAM
Pfam:Claudin_2 17 207 1e-33 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,258,224 (GRCm39) R512C probably damaging Het
Afap1l2 C A 19: 56,902,918 (GRCm39) V754L probably damaging Het
Atp5f1a T A 18: 77,868,686 (GRCm39) I393N probably damaging Het
Bbs1 C T 19: 4,941,017 (GRCm39) probably null Het
Bglap2 A T 3: 88,285,923 (GRCm39) L12Q unknown Het
Bsn C T 9: 107,991,700 (GRCm39) V1351I probably damaging Het
Cbx1 T C 11: 96,697,468 (GRCm39) V147A probably damaging Het
Cep192 T A 18: 67,953,434 (GRCm39) S484T probably damaging Het
Col18a1 A T 10: 76,921,106 (GRCm39) I298K unknown Het
Cyp27a1 A T 1: 74,771,198 (GRCm39) I128L probably benign Het
Dhdds C T 4: 133,724,225 (GRCm39) A30T probably damaging Het
Dnajc12 A G 10: 63,242,911 (GRCm39) N143S probably benign Het
Eno3 T G 11: 70,552,809 (GRCm39) N363K probably benign Het
Galnt10 T A 11: 57,660,364 (GRCm39) D267E probably damaging Het
Galr2 C T 11: 116,173,993 (GRCm39) R208C probably damaging Het
Hif3a G A 7: 16,788,712 (GRCm39) R82C unknown Het
Hspg2 T A 4: 137,239,277 (GRCm39) F401L possibly damaging Het
Iars1 G T 13: 49,860,214 (GRCm39) W455L probably damaging Het
Irf1 C T 11: 53,667,162 (GRCm39) H294Y probably benign Het
Itgal T C 7: 126,929,356 (GRCm39) L1091P probably damaging Het
Lrrc37a T G 11: 103,389,263 (GRCm39) D2054A probably benign Het
Map3k2 T A 18: 32,353,647 (GRCm39) H472Q probably benign Het
Myo18b T C 5: 112,840,158 (GRCm39) D2545G probably damaging Het
Nle1 G T 11: 82,795,792 (GRCm39) Y218* probably null Het
Pdlim5 A T 3: 141,983,623 (GRCm39) S377T probably benign Het
Plch1 A T 3: 63,662,726 (GRCm39) M259K probably benign Het
Pou6f1 A G 15: 100,481,979 (GRCm39) V268A probably benign Het
Prn C A 2: 131,788,365 (GRCm39) L7I unknown Het
Prpf6 C T 2: 181,250,035 (GRCm39) A65V possibly damaging Het
Rarres1 A T 3: 67,398,345 (GRCm39) F138L probably benign Het
Ros1 C T 10: 52,018,379 (GRCm39) V781M probably damaging Het
Sec16a C A 2: 26,305,645 (GRCm39) probably null Het
Slc44a4 G A 17: 35,147,676 (GRCm39) G606D probably damaging Het
Slco1a4 A T 6: 141,756,237 (GRCm39) C538* probably null Het
Slco1c1 A G 6: 141,513,336 (GRCm39) Y537C probably benign Het
Speg T A 1: 75,405,805 (GRCm39) L3003Q probably damaging Het
Ssr3 A G 3: 65,299,886 (GRCm39) S25P probably benign Het
Stard13 C A 5: 150,984,267 (GRCm39) R623L probably damaging Het
Tbc1d5 A G 17: 51,181,605 (GRCm39) I376T probably damaging Het
Tigd4 C A 3: 84,502,224 (GRCm39) F380L possibly damaging Het
Tmc4 T C 7: 3,672,574 (GRCm39) K489E probably damaging Het
Tmem168 A G 6: 13,602,937 (GRCm39) I143T probably benign Het
Tmem87b C T 2: 128,683,237 (GRCm39) T397I probably damaging Het
Tom1l1 C A 11: 90,563,741 (GRCm39) R173L probably benign Het
Trim10 G A 17: 37,182,644 (GRCm39) R170K probably damaging Het
Usp6nl T A 2: 6,429,134 (GRCm39) Y222N probably damaging Het
Vmn2r26 A T 6: 124,038,494 (GRCm39) I690F possibly damaging Het
Zfp1006 A G 8: 129,945,794 (GRCm39) Y344H probably benign Het
Other mutations in Tmem114
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0625:Tmem114 UTSW 16 8,229,966 (GRCm39) splice site probably null
R3911:Tmem114 UTSW 16 8,230,054 (GRCm39) missense probably damaging 0.99
R7122:Tmem114 UTSW 16 8,242,610 (GRCm39) start gained probably benign
R8197:Tmem114 UTSW 16 8,227,516 (GRCm39) missense probably damaging 1.00
R8429:Tmem114 UTSW 16 8,230,031 (GRCm39) missense probably damaging 1.00
R9130:Tmem114 UTSW 16 8,229,983 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ACTTGTAAGCTGGCACTTCG -3'
(R):5'- AATCTGGAGTGCAGCGAAC -3'

Sequencing Primer
(F):5'- ACTTTTGCAGGCCAGCC -3'
(R):5'- TGCAGCGAACAGACGGG -3'
Posted On 2019-11-12