Incidental Mutation 'IGL02971:Tmem220'
ID 365835
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 # IGL02971
Quality Score
Chromosome 11
Chromosomal Location 66915980-66926138 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 66924933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061786] [ENSMUST00000079077] [ENSMUST00000116363] [ENSMUST00000146338]
AlphaFold Q8BP07
Predicted Effect probably null
Transcript: ENSMUST00000061786
SMART Domains Protein: ENSMUSP00000057366
Gene: ENSMUSG00000050270

Pfam:TMEM220 23 122 4e-30 PFAM
transmembrane domain 127 149 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000079077
SMART Domains Protein: ENSMUSP00000078084
Gene: ENSMUSG00000050270

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
Predicted Effect probably benign
Transcript: ENSMUST00000116363
SMART Domains Protein: ENSMUSP00000112064
Gene: ENSMUSG00000020910

Pfam:Metallophos 18 282 1.8e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136013
Predicted Effect probably benign
Transcript: ENSMUST00000146338
SMART Domains Protein: ENSMUSP00000137768
Gene: ENSMUSG00000020910

PDB:2NXF|A 13 199 4e-47 PDB
SCOP:d1utea_ 15 176 3e-11 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 103,953,564 (GRCm39) T130I probably benign Het
Ahi1 T C 10: 20,876,450 (GRCm39) L787P possibly damaging Het
Atf3 A G 1: 190,909,640 (GRCm39) S10P probably benign Het
Cdr2l A G 11: 115,281,726 (GRCm39) N77S probably damaging Het
Cnp A G 11: 100,467,525 (GRCm39) D156G probably benign Het
Cntn3 A T 6: 102,145,894 (GRCm39) D982E probably damaging Het
Col22a1 A G 15: 71,878,587 (GRCm39) L190S probably damaging Het
Csmd3 C T 15: 47,777,325 (GRCm39) probably benign Het
Dnah5 A G 15: 28,384,607 (GRCm39) D3117G probably damaging Het
Dock5 T C 14: 67,994,558 (GRCm39) E1834G probably null Het
Eea1 A G 10: 95,877,389 (GRCm39) T1368A probably benign Het
Fam83f T C 15: 80,556,350 (GRCm39) V78A probably benign Het
Fcgbp G A 7: 27,800,898 (GRCm39) V1315I probably damaging Het
Fsd2 A T 7: 81,198,671 (GRCm39) Y364* probably null Het
Gm21976 G A 13: 98,439,057 (GRCm39) G16R probably null Het
Guca2b A G 4: 119,514,885 (GRCm39) S59P probably damaging Het
Hars2 A G 18: 36,919,231 (GRCm39) E123G probably damaging Het
Hdac2 A T 10: 36,876,370 (GRCm39) K462* probably null Het
Huwe1 T A X: 150,710,622 (GRCm39) probably benign Het
Iqgap3 T A 3: 87,997,611 (GRCm39) N262K probably benign Het
Kat6b A G 14: 21,719,826 (GRCm39) S1502G probably damaging Het
Mapkapk3 A T 9: 107,134,279 (GRCm39) D328E probably benign Het
Naca C T 10: 127,877,437 (GRCm39) probably benign Het
Npffr1 T C 10: 61,449,918 (GRCm39) V64A probably damaging Het
Oga A G 19: 45,750,682 (GRCm39) F671S probably damaging Het
Or2t49 A G 11: 58,393,211 (GRCm39) L57P probably damaging Het
Or8b3b T A 9: 38,584,564 (GRCm39) M72L probably damaging Het
Pcca A G 14: 123,126,945 (GRCm39) D718G probably damaging Het
Pde6a A C 18: 61,397,326 (GRCm39) D670A probably damaging Het
Pramel7 T A 2: 87,320,417 (GRCm39) E292V probably benign Het
Prmt9 A C 8: 78,291,698 (GRCm39) M357L probably benign Het
Ptgfr A T 3: 151,540,963 (GRCm39) S182T probably benign Het
Rtraf A T 14: 19,866,260 (GRCm39) M152K possibly damaging Het
Satb1 T C 17: 52,049,717 (GRCm39) D579G possibly damaging Het
Serpinb6a A G 13: 34,115,453 (GRCm39) probably null Het
Slc5a9 T C 4: 111,747,497 (GRCm39) I297V possibly damaging Het
Slf1 T A 13: 77,195,223 (GRCm39) probably benign Het
St8sia2 C T 7: 73,616,559 (GRCm39) V139M probably damaging Het
Tas2r114 T C 6: 131,666,243 (GRCm39) M262V probably benign Het
Tmem147 A G 7: 30,428,847 (GRCm39) probably benign Het
Uspl1 A G 5: 149,125,156 (GRCm39) N35S possibly damaging Het
Vmn1r170 A T 7: 23,305,759 (GRCm39) I54F possibly damaging Het
Vmn2r121 T G X: 123,037,591 (GRCm39) I810L probably damaging Het
Wbp2nl A T 15: 82,189,945 (GRCm39) T46S possibly damaging Het
Zfp955b T A 17: 33,519,940 (GRCm39) M57K probably benign Het
Other mutations in Tmem220
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01074:Tmem220 APN 11 66,922,999 (GRCm39) splice site probably benign
IGL02191:Tmem220 APN 11 66,921,933 (GRCm39) missense probably damaging 1.00
IGL02364:Tmem220 APN 11 66,925,014 (GRCm39) missense probably benign 0.18
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 2015-12-18