Incidental Mutation 'IGL02544:Tmem214'
ID297752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem214
Ensembl Gene ENSMUSG00000038828
Gene Nametransmembrane protein 214
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.423) question?
Stock #IGL02544
Quality Score
Status
Chromosome5
Chromosomal Location30868012-30879180 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 30872746 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 296 (A296T)
Ref Sequence ENSEMBL: ENSMUSP00000144615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114716] [ENSMUST00000201203]
Predicted Effect probably benign
Transcript: ENSMUST00000114716
AA Change: A251T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: A251T

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 172 638 8e-247 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201203
AA Change: A296T

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: A296T

DomainStartEndE-ValueType
low complexity region 16 36 N/A INTRINSIC
low complexity region 84 94 N/A INTRINSIC
Pfam:DUF2359 217 683 6.9e-246 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202774
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202951
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931428F04Rik C T 8: 105,283,460 V286M probably benign Het
Aasdh A C 5: 76,902,114 S12A probably benign Het
Abcb5 A T 12: 118,906,268 probably benign Het
Acap3 G A 4: 155,892,410 E6K possibly damaging Het
Ano3 A T 2: 110,658,249 I946K possibly damaging Het
Arid1a A G 4: 133,681,748 V1816A unknown Het
Cacna1c C T 6: 118,751,479 G335R probably damaging Het
Ccnh C A 13: 85,202,341 Y118* probably null Het
Cep76 C T 18: 67,634,950 probably benign Het
Cyp2c65 T C 19: 39,090,638 V387A probably damaging Het
Dapk1 T G 13: 60,751,217 S834A probably benign Het
Ddx39 T C 8: 83,722,773 S367P probably benign Het
Dicer1 A G 12: 104,714,832 I474T probably damaging Het
Dnah10 G A 5: 124,799,005 R2579H probably benign Het
Dnajc16 T C 4: 141,764,647 N622D probably damaging Het
Eif3c G T 7: 126,547,612 S799* probably null Het
Fbxo9 A G 9: 78,087,259 Y259H probably damaging Het
Fpr-rs4 A T 17: 18,022,211 H160L probably benign Het
Galc A T 12: 98,231,442 V336D probably benign Het
Gm14548 T A 7: 3,897,186 Y139F probably damaging Het
Mfrp T C 9: 44,102,794 L153P probably damaging Het
Mtx1 C A 3: 89,210,396 W30L probably damaging Het
Mysm1 A T 4: 94,952,306 D624E probably damaging Het
Naa16 A G 14: 79,335,820 F837L probably damaging Het
Olfr1118 C T 2: 87,309,127 R113C possibly damaging Het
Olfr193 A T 16: 59,110,144 H155Q probably damaging Het
Olfr346 A G 2: 36,688,836 Y278C probably damaging Het
Olfr705 T C 7: 106,714,535 I49V probably benign Het
Pde4d G T 13: 109,740,523 D137Y probably damaging Het
Pik3r1 G T 13: 101,687,276 R534S probably damaging Het
Plekha5 A C 6: 140,589,728 E239A possibly damaging Het
Psap G T 10: 60,300,626 probably benign Het
Rap2b T C 3: 61,365,139 F28S probably damaging Het
Rfc5 A T 5: 117,386,866 probably benign Het
Ryr1 C T 7: 29,115,599 D175N probably benign Het
Sbno1 T G 5: 124,403,983 I370L probably damaging Het
Slc17a6 T A 7: 51,666,155 C390* probably null Het
Srsf7 A T 17: 80,204,191 probably benign Het
Tbc1d10c C T 19: 4,187,960 D272N probably benign Het
Tll2 A G 19: 41,135,965 F204L probably damaging Het
Tmc1 T A 19: 20,906,963 T38S probably benign Het
Tmem184b A T 15: 79,365,807 I256K probably damaging Het
Trip11 G A 12: 101,893,521 R365W probably damaging Het
Ubr4 C T 4: 139,415,118 P1339S probably damaging Het
Vmn2r83 T A 10: 79,481,459 probably benign Het
Other mutations in Tmem214
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01083:Tmem214 APN 5 30876093 missense probably benign 0.15
IGL02119:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02123:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02124:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02126:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02186:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02395:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02396:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02397:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02400:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02403:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02404:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02539:Tmem214 APN 5 30872746 missense probably benign 0.01
IGL02934:Tmem214 APN 5 30871544 missense probably benign 0.26
PIT4382001:Tmem214 UTSW 5 30871451 missense possibly damaging 0.89
R0501:Tmem214 UTSW 5 30872532 missense probably damaging 1.00
R0519:Tmem214 UTSW 5 30869668 start codon destroyed probably null 0.98
R0675:Tmem214 UTSW 5 30871825 missense possibly damaging 0.70
R1204:Tmem214 UTSW 5 30875790 missense probably damaging 0.97
R1616:Tmem214 UTSW 5 30871563 nonsense probably null
R2096:Tmem214 UTSW 5 30876370 missense probably damaging 1.00
R2219:Tmem214 UTSW 5 30873631 missense possibly damaging 0.72
R5635:Tmem214 UTSW 5 30871517 missense probably damaging 1.00
R6003:Tmem214 UTSW 5 30870724 missense possibly damaging 0.52
R6744:Tmem214 UTSW 5 30874028 missense probably damaging 1.00
R7208:Tmem214 UTSW 5 30870721 missense possibly damaging 0.52
R8155:Tmem214 UTSW 5 30871792 missense possibly damaging 0.56
R8335:Tmem214 UTSW 5 30872122 missense possibly damaging 0.85
Posted On2015-04-16