Incidental Mutation 'IGL03243:Tmem30c'
ID414310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem30c
Ensembl Gene ENSMUSG00000022753
Gene Nametransmembrane protein 30C
Synonyms4933409A18Rik, 4933401B01Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.059) question?
Stock #IGL03243
Quality Score
Status
Chromosome16
Chromosomal Location57266139-57292865 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 57276150 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 203 (S203T)
Ref Sequence ENSEMBL: ENSMUSP00000113896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023434] [ENSMUST00000119407] [ENSMUST00000120112]
Predicted Effect probably benign
Transcript: ENSMUST00000023434
AA Change: S203T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023434
Gene: ENSMUSG00000022753
AA Change: S203T

DomainStartEndE-ValueType
Pfam:CDC50 54 339 2.7e-84 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119407
AA Change: S203T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112989
Gene: ENSMUSG00000022753
AA Change: S203T

DomainStartEndE-ValueType
Pfam:CDC50 53 340 2.6e-89 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120112
AA Change: S203T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000113896
Gene: ENSMUSG00000022753
AA Change: S203T

DomainStartEndE-ValueType
Pfam:CDC50 53 283 9.9e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180871
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26a T C 8: 43,568,696 T586A probably benign Het
Agtr1b T C 3: 20,315,795 T216A probably benign Het
Ankdd1a T C 9: 65,501,470 R505G probably benign Het
Anxa3 A T 5: 96,828,692 probably benign Het
Atp6v1c2 C T 12: 17,289,121 V210I probably benign Het
BC034090 G A 1: 155,225,655 P288S possibly damaging Het
Catsper2 T C 2: 121,406,819 H200R probably benign Het
Cntnap5c G T 17: 58,102,176 A470S probably benign Het
Fcho2 G A 13: 98,777,384 probably benign Het
Frem1 A C 4: 83,013,969 L165R probably damaging Het
Gm5155 A T 7: 17,918,649 noncoding transcript Het
Gpn1 G A 5: 31,510,831 probably null Het
Gpr179 T C 11: 97,351,475 N181S probably benign Het
Heatr5b A T 17: 78,763,080 probably benign Het
Kat6a A G 8: 22,910,222 N333S possibly damaging Het
Lrp5 T C 19: 3,630,159 T442A probably benign Het
Myo15 G T 11: 60,496,518 L722F probably damaging Het
Nlrp9c T G 7: 26,365,032 D957A probably damaging Het
Nupl1 T A 14: 60,221,616 T521S probably benign Het
Olfr58 T G 9: 19,783,268 I45S probably damaging Het
Plek C A 11: 16,995,319 V4L possibly damaging Het
Sell T A 1: 164,065,342 H42Q possibly damaging Het
Slfn8 A T 11: 83,003,707 I702K probably damaging Het
Svep1 T C 4: 58,133,387 I573V probably benign Het
Tgm1 T A 14: 55,705,907 I526F probably damaging Het
Tox T C 4: 6,697,597 N402S possibly damaging Het
Trav7d-4 C A 14: 52,770,098 probably benign Het
Unc13d A T 11: 116,067,844 V784D probably benign Het
Vmn2r68 A G 7: 85,233,755 V263A possibly damaging Het
Zfp385c A T 11: 100,634,747 V56D probably damaging Het
Znrf2 A T 6: 54,884,769 I222L possibly damaging Het
Other mutations in Tmem30c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00514:Tmem30c APN 16 57270074 missense probably damaging 1.00
IGL01115:Tmem30c APN 16 57276117 splice site probably benign
IGL01574:Tmem30c APN 16 57276742 missense possibly damaging 0.60
IGL02060:Tmem30c APN 16 57290898 missense probably benign
R0689:Tmem30c UTSW 16 57270173 missense probably damaging 1.00
R0699:Tmem30c UTSW 16 57276789 missense possibly damaging 0.69
R0763:Tmem30c UTSW 16 57270176 missense possibly damaging 0.90
R1353:Tmem30c UTSW 16 57277665 missense probably damaging 1.00
R1518:Tmem30c UTSW 16 57266492 missense probably damaging 0.99
R1707:Tmem30c UTSW 16 57266480 missense possibly damaging 0.79
R1843:Tmem30c UTSW 16 57276780 missense probably benign 0.02
R1865:Tmem30c UTSW 16 57269989 splice site probably benign
R2021:Tmem30c UTSW 16 57281362 missense probably damaging 1.00
R3419:Tmem30c UTSW 16 57277668 missense probably benign 0.25
R5007:Tmem30c UTSW 16 57266505 missense probably benign 0.00
R5204:Tmem30c UTSW 16 57270022 missense possibly damaging 0.89
R5626:Tmem30c UTSW 16 57276143 missense possibly damaging 0.74
R5863:Tmem30c UTSW 16 57270055 missense probably benign 0.02
R5869:Tmem30c UTSW 16 57266562 missense probably damaging 0.99
R6133:Tmem30c UTSW 16 57277737 missense probably damaging 1.00
R6359:Tmem30c UTSW 16 57276150 missense probably benign 0.00
R6813:Tmem30c UTSW 16 57281259 critical splice donor site probably null
R7268:Tmem30c UTSW 16 57266414 missense probably damaging 0.98
R7387:Tmem30c UTSW 16 57270023 missense probably benign 0.05
Posted On2016-08-02