Incidental Mutation 'IGL02396:Tmem214'
ID294344
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 essential (E-score: 0.626) question?
Stock #IGL02396
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 C T 14: 54,644,799 probably benign Het
Bmp3 C A 5: 98,872,719 Q334K possibly damaging Het
Bnc2 G T 4: 84,276,009 S1026R probably benign Het
Bsn C T 9: 108,116,046 G836S possibly damaging Het
Cand2 A G 6: 115,791,188 probably benign Het
Ccdc24 T C 4: 117,869,629 T296A possibly damaging Het
Ccdc38 A G 10: 93,574,132 N271S possibly damaging Het
Ccdc81 T G 7: 89,881,649 I362L probably benign Het
Cdhr3 T A 12: 33,045,196 I625F possibly damaging Het
Col12a1 T A 9: 79,662,583 R1568S probably benign Het
Cpeb4 T A 11: 31,925,441 S547T probably benign Het
Dennd4c T A 4: 86,825,000 N1075K probably damaging Het
Esrra C A 19: 6,912,005 V339L probably benign Het
Ghr A T 15: 3,457,998 M1K probably null Het
Gm4987 T A X: 46,456,114 noncoding transcript Het
Gm5096 A G 18: 87,756,656 E101G possibly damaging Het
Golga2 G T 2: 32,298,644 probably benign Het
Gys1 T A 7: 45,439,588 I137N probably damaging Het
Hs3st5 A T 10: 36,828,703 M1L probably benign Het
Hsd3b5 T A 3: 98,622,027 T96S probably benign Het
Ighv6-3 T C 12: 114,391,736 D111G probably damaging Het
Immp1l T A 2: 105,937,006 I70N probably damaging Het
Ints4 G A 7: 97,537,900 V866I possibly damaging Het
Large2 G T 2: 92,366,323 Y529* probably null Het
Maf1 C A 15: 76,353,257 Y166* probably null Het
Manba T A 3: 135,544,764 M384K probably damaging Het
Mapk4 C A 18: 73,933,997 probably null Het
Mc5r T C 18: 68,339,466 S299P possibly damaging Het
Mdn1 T A 4: 32,700,120 N1404K probably damaging Het
Milr1 C A 11: 106,765,239 Y212* probably null Het
Ncor2 A G 5: 125,037,914 S1115P probably damaging Het
Olfr1122 A T 2: 87,387,705 probably benign Het
Olfr1314 C A 2: 112,092,467 C78F probably benign Het
Osbpl7 T G 11: 97,055,551 L158R probably damaging Het
Psmd4 A T 3: 95,035,910 L61Q probably damaging Het
Rassf9 A T 10: 102,545,693 N310I possibly damaging Het
Rpl21-ps6 A G 17: 55,915,400 noncoding transcript Het
Slc31a2 T C 4: 62,297,073 I119T probably damaging Het
Srgap2 C A 1: 131,292,675 C187F probably damaging Het
Tekt5 C A 16: 10,379,067 A307S probably benign Het
Ttn A G 2: 76,945,088 V1916A unknown Het
Wee1 T G 7: 110,142,093 V641G probably damaging Het
Zfand6 G A 7: 84,617,903 P157L probably damaging 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
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
IGL02544: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