Incidental Mutation 'IGL02195:Tmem139'
ID 284026
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem139
Ensembl Gene ENSMUSG00000071506
Gene Name transmembrane protein 139
Synonyms A930027H06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.099) question?
Stock # IGL02195
Quality Score
Status
Chromosome 6
Chromosomal Location 42238893-42241489 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 42240901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 162 (R162L)
Ref Sequence ENSEMBL: ENSMUSP00000100590 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031895] [ENSMUST00000095987] [ENSMUST00000156829]
AlphaFold E9PX92
Predicted Effect probably benign
Transcript: ENSMUST00000031895
SMART Domains Protein: ENSMUSP00000031895
Gene: ENSMUSG00000029863

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 447 3.27e-129 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000095987
AA Change: R162L

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100590
Gene: ENSMUSG00000071506
AA Change: R162L

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:TMEM51 58 194 1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132246
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141669
Predicted Effect probably benign
Transcript: ENSMUST00000156829
SMART Domains Protein: ENSMUSP00000121184
Gene: ENSMUSG00000029863

DomainStartEndE-ValueType
CARD 32 120 2.27e-32 SMART
CASc 191 341 8.07e-38 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anpep G T 7: 79,476,433 (GRCm39) A65D probably damaging Het
Birc6 C T 17: 75,004,376 (GRCm39) probably benign Het
Car11 G T 7: 45,350,716 (GRCm39) V71L probably damaging Het
Cecr2 A G 6: 120,708,367 (GRCm39) Y123C probably damaging Het
Dnm2 G A 9: 21,336,545 (GRCm39) V52M probably damaging Het
Fbxo21 T A 5: 118,140,219 (GRCm39) C560S probably damaging Het
Gatb A T 3: 85,511,755 (GRCm39) Y170F probably benign Het
Ighv1-54 A T 12: 115,157,570 (GRCm39) S26T possibly damaging Het
Ints8 A T 4: 11,221,222 (GRCm39) W718R probably damaging Het
Iqgap2 T A 13: 95,798,242 (GRCm39) probably benign Het
Kif4 T C X: 99,769,822 (GRCm39) F1154S probably damaging Het
Klhl18 A G 9: 110,267,970 (GRCm39) C253R possibly damaging Het
Lilra6 T C 7: 3,917,549 (GRCm39) S149G probably benign Het
Lonrf1 G A 8: 36,687,102 (GRCm39) R745* probably null Het
Manea A C 4: 26,340,628 (GRCm39) Y111* probably null Het
Map2k1 A G 9: 64,101,090 (GRCm39) I196T probably benign Het
Matn4 T C 2: 164,242,972 (GRCm39) D42G probably damaging Het
Meioc C A 11: 102,565,683 (GRCm39) T433K possibly damaging Het
Mtmr7 A G 8: 41,013,946 (GRCm39) V204A probably damaging Het
Nus1 A G 10: 52,309,465 (GRCm39) D91G probably damaging Het
Or8a1b A G 9: 37,623,417 (GRCm39) S53P probably benign Het
Pisd A G 5: 32,894,659 (GRCm39) L549P probably damaging Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Prdm15 A G 16: 97,637,029 (GRCm39) V96A probably damaging Het
Prune2 C A 19: 17,096,921 (GRCm39) D808E probably benign Het
Sema5b G A 16: 35,480,849 (GRCm39) probably null Het
Shank3 A T 15: 89,432,321 (GRCm39) Q947L probably damaging Het
Sned1 A G 1: 93,201,882 (GRCm39) E616G probably benign Het
Snx18 T C 13: 113,753,376 (GRCm39) H519R probably damaging Het
Spring1 T C 5: 118,397,462 (GRCm39) L148P probably damaging Het
Syde2 A G 3: 145,707,911 (GRCm39) T617A probably damaging Het
Trim72 A T 7: 127,607,136 (GRCm39) M222L probably damaging Het
Other mutations in Tmem139
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2301:Tmem139 UTSW 6 42,240,364 (GRCm39) missense possibly damaging 0.60
R4275:Tmem139 UTSW 6 42,241,039 (GRCm39) missense probably damaging 0.96
R7088:Tmem139 UTSW 6 42,240,199 (GRCm39) missense probably damaging 0.98
R8710:Tmem139 UTSW 6 42,241,021 (GRCm39) missense probably damaging 0.99
R9622:Tmem139 UTSW 6 42,240,176 (GRCm39) critical splice acceptor site probably null
Posted On 2015-04-16