Incidental Mutation 'IGL02229:Tmem242'
ID285421
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem242
Ensembl Gene ENSMUSG00000004945
Gene Nametransmembrane protein 242
Synonyms2310046K16Rik, 5730437N04Rik, 1110008A10Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.431) question?
Stock #IGL02229
Quality Score
Status
Chromosome17
Chromosomal Location5410870-5440259 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 5411407 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 129 (S129T)
Ref Sequence ENSEMBL: ENSMUSP00000005053 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005053]
Predicted Effect probably benign
Transcript: ENSMUST00000005053
AA Change: S129T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000005053
Gene: ENSMUSG00000004945
AA Change: S129T

DomainStartEndE-ValueType
Pfam:DUF1358 9 123 2.9e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190732
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190865
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 63,898,353 D144G probably damaging Het
Adgrg1 G T 8: 95,003,511 D114Y probably damaging Het
Ago4 T A 4: 126,511,532 N416I probably benign Het
Aoc1 C T 6: 48,905,909 Q240* probably null Het
Atl1 G A 12: 69,926,025 V40I probably benign Het
Cdh2 T C 18: 16,624,753 I591V probably benign Het
Cic C A 7: 25,290,950 Q1959K probably damaging Het
Cmya5 C T 13: 93,092,686 E1965K possibly damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cspp1 T C 1: 10,083,556 S397P probably damaging Het
D130043K22Rik T C 13: 24,875,924 Y593H probably damaging Het
Dck A G 5: 88,774,105 Y142C probably damaging Het
Eea1 A T 10: 96,018,184 E568V probably damaging Het
Gabra3 A G X: 72,501,077 probably null Het
Gucy2f A G X: 142,179,988 S342P probably benign Het
Hbb-bh1 T A 7: 103,842,825 I61F possibly damaging Het
Hook1 T C 4: 96,001,251 S235P possibly damaging Het
Hoxd12 G A 2: 74,675,934 R230H probably damaging Het
Iglc2 C T 16: 19,198,733 A41T probably benign Het
Il1r1 A G 1: 40,313,358 K566E probably damaging Het
Kcns3 A T 12: 11,092,092 M202K probably damaging Het
Krt7 C A 15: 101,427,616 A442D probably benign Het
Ltk C T 2: 119,758,573 R200H probably benign Het
Macf1 G T 4: 123,509,826 D582E probably damaging Het
Mbnl3 A T X: 51,139,341 Y69N probably damaging Het
Mpp1 T C X: 75,121,428 probably benign Het
Myo18b A G 5: 112,878,110 S25P unknown Het
Nsd3 A G 8: 25,710,748 N1289S probably damaging Het
Olfr26 T A 9: 38,855,416 M118K possibly damaging Het
Pacs2 A G 12: 113,056,800 probably benign Het
Rab3gap2 A G 1: 185,259,383 K689E possibly damaging Het
Sva T A 6: 42,042,222 C109S probably damaging Het
Taf3 T C 2: 9,952,834 N174S probably damaging Het
Tbc1d5 A T 17: 50,852,600 M393K probably damaging Het
Ttn A T 2: 76,871,169 probably benign Het
Other mutations in Tmem242
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1954:Tmem242 UTSW 17 5439579 missense possibly damaging 0.58
R2259:Tmem242 UTSW 17 5433470 missense probably damaging 0.97
R2260:Tmem242 UTSW 17 5433470 missense probably damaging 0.97
R6777:Tmem242 UTSW 17 5433555 missense probably damaging 1.00
Posted On2015-04-16