Incidental Mutation 'IGL02191:Tmem220'
ID 283872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem220
Ensembl Gene ENSMUSG00000050270
Gene Name transmembrane protein 220
Synonyms A730055C05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # IGL02191
Quality Score
Status
Chromosome 11
Chromosomal Location 66915980-66926138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66921933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 101 (C101Y)
Ref Sequence ENSEMBL: ENSMUSP00000078084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061786] [ENSMUST00000079077]
AlphaFold Q8BP07
Predicted Effect probably damaging
Transcript: ENSMUST00000061786
AA Change: C77Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270
AA Change: C77Y

DomainStartEndE-ValueType
Pfam:TMEM220 23 122 4e-30 PFAM
transmembrane domain 127 149 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000079077
AA Change: C101Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078084
Gene: ENSMUSG00000050270
AA Change: C101Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:TMEM220 23 48 1.2e-9 PFAM
Pfam:TMEM220 64 144 4.3e-19 PFAM
transmembrane domain 151 173 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T C 12: 80,220,883 (GRCm39) I642V probably benign Het
Adam5 G A 8: 25,302,439 (GRCm39) R185* probably null Het
C2 T C 17: 35,085,539 (GRCm39) I122V probably damaging Het
Camsap1 A G 2: 25,819,892 (GRCm39) I1531T probably damaging Het
Celsr1 T C 15: 85,863,205 (GRCm39) T1276A possibly damaging Het
Cnot7 A T 8: 40,963,068 (GRCm39) N35K probably benign Het
Cyp2a12 A G 7: 26,736,036 (GRCm39) I482V probably benign Het
Cyp3a57 A G 5: 145,302,495 (GRCm39) E97G probably damaging Het
Cyp51 C A 5: 4,150,147 (GRCm39) R192I probably benign Het
Ddx59 T C 1: 136,344,896 (GRCm39) L189P probably damaging Het
Dnah6 A G 6: 72,994,780 (GRCm39) I4127T probably benign Het
Dock3 C T 9: 106,815,340 (GRCm39) V1217I probably benign Het
Ergic2 T C 6: 148,106,319 (GRCm39) D57G probably null Het
Flvcr2 A T 12: 85,832,966 (GRCm39) K329* probably null Het
Foxp1 T C 6: 98,922,561 (GRCm39) S327G probably damaging Het
Gen1 A C 12: 11,292,297 (GRCm39) H562Q probably benign Het
Gjc2 A G 11: 59,068,386 (GRCm39) V32A probably damaging Het
Grk4 C T 5: 34,912,533 (GRCm39) H574Y probably benign Het
Kif15 T A 9: 122,804,744 (GRCm39) C93S probably damaging Het
Lrtm1 A C 14: 28,743,906 (GRCm39) I125L probably benign Het
Mrgprb8 A G 7: 48,038,527 (GRCm39) Y66C probably damaging Het
Pfn1 G A 11: 70,545,209 (GRCm39) A33V probably damaging Het
Scnn1b A C 7: 121,516,736 (GRCm39) K492Q probably damaging Het
Slc22a29 G A 19: 8,196,045 (GRCm39) probably benign Het
Spocd1 A G 4: 129,847,380 (GRCm39) D523G probably damaging Het
Tmem144 A T 3: 79,734,159 (GRCm39) D181E possibly damaging Het
Tmpo A G 10: 90,997,741 (GRCm39) V682A probably benign Het
Wdr93 A G 7: 79,398,968 (GRCm39) K34R probably damaging Het
Zdhhc16 C A 19: 41,926,130 (GRCm39) C8* probably null Het
Zfp318 C T 17: 46,707,736 (GRCm39) R265* probably null Het
Other mutations in Tmem220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Tmem220 APN 11 66,922,999 (GRCm39) splice site probably benign
IGL02364:Tmem220 APN 11 66,925,014 (GRCm39) missense probably benign 0.18
IGL02971:Tmem220 APN 11 66,924,933 (GRCm39) critical splice acceptor site probably null
R0497:Tmem220 UTSW 11 66,916,748 (GRCm39) missense probably damaging 1.00
R2024:Tmem220 UTSW 11 66,924,979 (GRCm39) missense possibly damaging 0.87
R3825:Tmem220 UTSW 11 66,916,077 (GRCm39) missense possibly damaging 0.94
R4723:Tmem220 UTSW 11 66,920,819 (GRCm39) missense possibly damaging 0.89
R7229:Tmem220 UTSW 11 66,916,989 (GRCm39) missense unknown
R7939:Tmem220 UTSW 11 66,920,850 (GRCm39) missense probably damaging 1.00
R9461:Tmem220 UTSW 11 66,924,979 (GRCm39) missense possibly damaging 0.87
R9574:Tmem220 UTSW 11 66,916,093 (GRCm39) missense probably damaging 1.00
R9677:Tmem220 UTSW 11 66,925,011 (GRCm39) missense probably benign 0.38
R9718:Tmem220 UTSW 11 66,916,086 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16