Incidental Mutation 'IGL00501:Tmem104'
ID6006
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem104
Ensembl Gene ENSMUSG00000045980
Gene Nametransmembrane protein 104
SynonymsC630005D06Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00501
Quality Score
Status
Chromosome11
Chromosomal Location115187487-115247023 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115243937 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 433 (I433T)
Ref Sequence ENSEMBL: ENSMUSP00000056805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061450] [ENSMUST00000100235]
Predicted Effect probably damaging
Transcript: ENSMUST00000061450
AA Change: I433T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056805
Gene: ENSMUSG00000045980
AA Change: I433T

DomainStartEndE-ValueType
Pfam:Aa_trans 13 77 3.4e-10 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 128 487 4.5e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100235
AA Change: I432T

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097807
Gene: ENSMUSG00000045980
AA Change: I432T

DomainStartEndE-ValueType
Pfam:Aa_trans 13 81 5.5e-11 PFAM
low complexity region 84 100 N/A INTRINSIC
Pfam:Aa_trans 127 485 1.2e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156230
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900055J20Rik G A 18: 40,257,387 probably benign Het
Acat1 T C 9: 53,582,595 I409V probably damaging Het
Adck1 A G 12: 88,368,422 N26S probably benign Het
Adgrf5 G A 17: 43,449,915 A834T possibly damaging Het
Agpat5 T C 8: 18,876,132 probably null Het
Ano8 A C 8: 71,479,149 probably null Het
Baz2a T A 10: 128,114,625 M476K probably benign Het
Col16a1 A G 4: 130,094,552 probably null Het
Cyp3a13 A T 5: 137,911,933 I113N probably benign Het
Dstn A G 2: 143,942,174 T146A probably benign Het
Eif2ak1 A T 5: 143,889,470 M434L probably damaging Het
Fam126a A G 5: 23,985,845 probably benign Het
Gba2 G A 4: 43,568,477 A663V probably damaging Het
Gja10 T C 4: 32,601,230 T385A possibly damaging Het
Gm42878 A C 5: 121,533,343 I209R probably damaging Het
Grk1 T A 8: 13,407,835 V245E probably damaging Het
H2afz T C 3: 137,865,596 V53A probably damaging Het
Klhdc8b C T 9: 108,448,906 R263H probably benign Het
Lcn8 T C 2: 25,655,107 probably benign Het
Ldlr T C 9: 21,735,361 probably null Het
Lrrc40 T C 3: 158,061,282 F458S probably damaging Het
Lypla1 T A 1: 4,828,587 H35Q probably damaging Het
Mb21d1 G A 9: 78,435,587 A311V probably damaging Het
Mink1 C T 11: 70,603,812 T273I probably damaging Het
Neb A G 2: 52,295,344 F959L probably benign Het
Nedd4l A T 18: 65,208,092 D704V probably damaging Het
Peak1 C T 9: 56,227,326 E1274K probably damaging Het
Prkcz G T 4: 155,294,401 probably benign Het
Rabgap1 T A 2: 37,469,546 N40K probably damaging Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Spink5 A G 18: 43,977,739 T126A probably damaging Het
Tanc2 T C 11: 105,923,220 V1830A probably benign Het
Trim10 G A 17: 36,877,047 R385K probably benign Het
Zbtb44 A G 9: 31,054,310 I339V possibly damaging Het
Other mutations in Tmem104
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02948:Tmem104 APN 11 115197296 missense probably damaging 1.00
IGL03010:Tmem104 APN 11 115243534 missense probably benign 0.01
R0107:Tmem104 UTSW 11 115202180 missense probably damaging 1.00
R0399:Tmem104 UTSW 11 115201308 splice site probably benign
R0534:Tmem104 UTSW 11 115200828 missense probably damaging 1.00
R2034:Tmem104 UTSW 11 115243547 missense probably benign 0.42
R2037:Tmem104 UTSW 11 115201395 missense possibly damaging 0.95
R4095:Tmem104 UTSW 11 115243923 nonsense probably null
R4640:Tmem104 UTSW 11 115243724 missense probably damaging 1.00
R4981:Tmem104 UTSW 11 115205136 missense probably damaging 1.00
R5011:Tmem104 UTSW 11 115243486 missense probably damaging 1.00
R5086:Tmem104 UTSW 11 115201401 missense probably damaging 0.98
R5522:Tmem104 UTSW 11 115188323 critical splice donor site probably null
R5602:Tmem104 UTSW 11 115205124 missense probably damaging 1.00
R6025:Tmem104 UTSW 11 115205523 nonsense probably null
R6247:Tmem104 UTSW 11 115243993 missense probably benign
R6522:Tmem104 UTSW 11 115243753 missense probably damaging 1.00
Posted On2012-04-20