Incidental Mutation 'IGL01371:Tmem235'
ID 76139
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem235
Ensembl Gene ENSMUSG00000070330
Gene Name transmembrane protein 235
Synonyms Gm12581, Tmem235, Cldn27
Accession Numbers
Essential gene? Probably non essential (E-score: 0.048) question?
Stock # IGL01371
Quality Score
Status
Chromosome 11
Chromosomal Location 117751578-117756369 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 117753132 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 85 (L85P)
Ref Sequence ENSEMBL: ENSMUSP00000091432 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093905]
AlphaFold B1AQL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000093905
AA Change: L85P

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000091432
Gene: ENSMUSG00000070330
AA Change: L85P

DomainStartEndE-ValueType
Pfam:PMP22_Claudin 4 190 9.7e-14 PFAM
Pfam:Claudin_2 16 192 1.3e-45 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 C T 6: 142,602,340 (GRCm39) R691Q probably benign Het
Ambra1 G T 2: 91,655,631 (GRCm39) G700W probably damaging Het
Atp6v1c1 A G 15: 38,683,204 (GRCm39) I198V probably benign Het
Bptf T C 11: 106,946,733 (GRCm39) N2353S probably benign Het
Cd84 A T 1: 171,713,937 (GRCm39) T312S probably benign Het
Chl1 G T 6: 103,692,325 (GRCm39) C1064F probably damaging Het
Clca4a T C 3: 144,666,433 (GRCm39) D473G probably damaging Het
Dsp A G 13: 38,377,593 (GRCm39) R1793G probably benign Het
Dync1h1 A G 12: 110,605,285 (GRCm39) N2374S probably benign Het
Ecpas A G 4: 58,809,718 (GRCm39) L1583P probably damaging Het
Gm43191 A T 3: 116,439,112 (GRCm39) I130N probably damaging Het
Gm5134 T G 10: 75,840,581 (GRCm39) L475R probably damaging Het
Grm1 A G 10: 10,595,783 (GRCm39) V615A probably benign Het
Inhca T C 9: 103,131,975 (GRCm39) E504G possibly damaging Het
Loxl1 T A 9: 58,201,705 (GRCm39) Q462L possibly damaging Het
Nwd1 T C 8: 73,401,743 (GRCm39) W755R probably damaging Het
Or10j27 A G 1: 172,958,098 (GRCm39) S229P possibly damaging Het
Or5b106 G A 19: 13,123,192 (GRCm39) T277I possibly damaging Het
Or5t17 A T 2: 86,833,267 (GRCm39) K318M probably benign Het
Otud4 T C 8: 80,400,390 (GRCm39) F1034L probably damaging Het
Pakap C A 4: 57,856,325 (GRCm39) D551E probably benign Het
Panx3 T G 9: 37,572,771 (GRCm39) T260P probably benign Het
Ppfia4 A T 1: 134,255,824 (GRCm39) S194T probably benign Het
Rnf135 T A 11: 80,080,081 (GRCm39) I124N probably benign Het
Rpf1 T C 3: 146,213,302 (GRCm39) N283S probably damaging Het
Smg5 A G 3: 88,266,951 (GRCm39) probably benign Het
Stard9 A G 2: 120,531,849 (GRCm39) E2702G probably benign Het
Tbk1 A T 10: 121,395,776 (GRCm39) M439K probably benign Het
Trhde A T 10: 114,424,405 (GRCm39) V460E possibly damaging Het
Ttn T C 2: 76,620,608 (GRCm39) probably benign Het
Vmn1r83 A G 7: 12,055,160 (GRCm39) F299S probably benign Het
Other mutations in Tmem235
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0497:Tmem235 UTSW 11 117,755,177 (GRCm39) missense probably benign 0.01
R0564:Tmem235 UTSW 11 117,751,674 (GRCm39) missense possibly damaging 0.86
R3778:Tmem235 UTSW 11 117,753,126 (GRCm39) missense probably benign 0.08
R5364:Tmem235 UTSW 11 117,755,020 (GRCm39) nonsense probably null
R6064:Tmem235 UTSW 11 117,753,764 (GRCm39) missense possibly damaging 0.84
R7139:Tmem235 UTSW 11 117,751,723 (GRCm39) missense probably damaging 0.99
R7567:Tmem235 UTSW 11 117,754,967 (GRCm39) missense probably benign 0.04
R7884:Tmem235 UTSW 11 117,755,033 (GRCm39) missense probably benign 0.08
R7904:Tmem235 UTSW 11 117,751,717 (GRCm39) missense probably damaging 1.00
R9332:Tmem235 UTSW 11 117,751,665 (GRCm39) missense probably damaging 1.00
X0063:Tmem235 UTSW 11 117,753,120 (GRCm39) missense probably benign 0.08
Posted On 2013-10-07