Incidental Mutation 'IGL00590:Tmem150b'
ID 5338
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem150b
Ensembl Gene ENSMUSG00000046456
Gene Name transmembrane protein 150B
Synonyms Tmem224
Accession Numbers
Essential gene? Probably non essential (E-score: 0.228) question?
Stock # IGL00590
Quality Score
Status
Chromosome 7
Chromosomal Location 4709831-4728248 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 4726896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 71 (I71L)
Ref Sequence ENSEMBL: ENSMUSP00000083550 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086363] [ENSMUST00000086364]
AlphaFold Q8R218
Predicted Effect probably benign
Transcript: ENSMUST00000086363
AA Change: I71L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000083549
Gene: ENSMUSG00000046456
AA Change: I71L

DomainStartEndE-ValueType
Pfam:Frag1 4 207 7.1e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000086364
AA Change: I71L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000083550
Gene: ENSMUSG00000046456
AA Change: I71L

DomainStartEndE-ValueType
Pfam:Frag1 4 114 1.5e-28 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the DRAM (damage-regulated autophagy modulator) family of membrane-spanning proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,023,038 (GRCm39) F58C probably damaging Het
Adgrf5 G T 17: 43,764,038 (GRCm39) G1320V probably damaging Het
Akap13 A G 7: 75,260,417 (GRCm39) K211E probably benign Het
Akap8l T C 17: 32,552,071 (GRCm39) D402G possibly damaging Het
Akna T C 4: 63,290,115 (GRCm39) I1198V probably benign Het
Apaf1 T A 10: 90,859,650 (GRCm39) I832F probably damaging Het
Cbl A C 9: 44,112,495 (GRCm39) L67V probably damaging Het
Chl1 T C 6: 103,670,022 (GRCm39) Y471H probably benign Het
Cystm1 T A 18: 36,499,728 (GRCm39) Y48N unknown Het
Dennd5b T C 6: 148,969,806 (GRCm39) T216A probably benign Het
Dpep2 A T 8: 106,715,453 (GRCm39) M356K probably damaging Het
Dtymk A G 1: 93,722,446 (GRCm39) probably null Het
Fam91a1 A G 15: 58,287,565 (GRCm39) D4G possibly damaging Het
Fbxl20 A G 11: 97,983,955 (GRCm39) L306P probably damaging Het
Fchsd1 C T 18: 38,098,946 (GRCm39) probably benign Het
Fndc1 G A 17: 7,983,933 (GRCm39) T1331I unknown Het
Gpatch8 T C 11: 102,371,375 (GRCm39) D721G unknown Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Heyl A G 4: 123,140,423 (GRCm39) *327W probably null Het
Kif13b G T 14: 65,016,911 (GRCm39) R1359L probably damaging Het
Map3k14 C T 11: 103,128,380 (GRCm39) G414S probably damaging Het
Meis2 C T 2: 115,699,274 (GRCm39) A330T probably damaging Het
Mrpl9 T C 3: 94,351,003 (GRCm39) L61P probably damaging Het
Mrps6 A G 16: 91,896,548 (GRCm39) N38D probably benign Het
Muc4 C T 16: 32,575,465 (GRCm39) T1407I probably benign Het
Nup107 A G 10: 117,599,708 (GRCm39) Y604H probably damaging Het
Pgm2l1 T C 7: 99,904,826 (GRCm39) probably null Het
Pisd T C 5: 32,895,756 (GRCm39) I441V probably benign Het
Rb1cc1 T C 1: 6,308,520 (GRCm39) F52S probably damaging Het
Rnft1 T A 11: 86,386,740 (GRCm39) W383R probably damaging Het
Tas2r104 A T 6: 131,662,530 (GRCm39) W60R probably damaging Het
Tlr11 A G 14: 50,598,373 (GRCm39) T120A probably benign Het
Zfp296 A G 7: 19,311,760 (GRCm39) D89G possibly damaging Het
Other mutations in Tmem150b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1769:Tmem150b UTSW 7 4,727,365 (GRCm39) missense probably damaging 1.00
R1888:Tmem150b UTSW 7 4,712,044 (GRCm39) missense probably benign 0.31
R1888:Tmem150b UTSW 7 4,712,044 (GRCm39) missense probably benign 0.31
R2197:Tmem150b UTSW 7 4,719,353 (GRCm39) missense probably benign 0.07
R3408:Tmem150b UTSW 7 4,727,339 (GRCm39) missense probably damaging 1.00
R3872:Tmem150b UTSW 7 4,727,360 (GRCm39) nonsense probably null
R4820:Tmem150b UTSW 7 4,726,871 (GRCm39) missense probably damaging 1.00
R5412:Tmem150b UTSW 7 4,719,368 (GRCm39) missense probably null 0.54
R6280:Tmem150b UTSW 7 4,727,373 (GRCm39) missense probably benign 0.00
R7427:Tmem150b UTSW 7 4,719,209 (GRCm39) missense probably benign 0.29
R7658:Tmem150b UTSW 7 4,723,758 (GRCm39) missense probably benign 0.00
R8015:Tmem150b UTSW 7 4,719,327 (GRCm39) missense probably null 1.00
R8209:Tmem150b UTSW 7 4,723,691 (GRCm39) missense probably damaging 0.98
Posted On 2012-04-20