Incidental Mutation 'IGL02395:Tmem214'
ID294312
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 #IGL02395
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,480,960 C540S probably damaging Het
Cdk5 A G 5: 24,419,637 V252A possibly damaging Het
Ddi2 C T 4: 141,695,414 R329Q possibly damaging Het
Dennd2c T A 3: 103,157,765 F678I probably benign Het
Ect2 T C 3: 27,150,106 D18G probably damaging Het
Efcab11 C A 12: 99,854,609 probably null Het
Eri2 T C 7: 119,787,810 E162G probably damaging Het
Fam120b T C 17: 15,402,515 S252P probably damaging Het
Filip1 G A 9: 79,898,410 P21S probably benign Het
Kmt5b T A 19: 3,814,887 D627E probably benign Het
Krt83 T C 15: 101,487,952 D254G probably benign Het
Man1a2 T C 3: 100,644,537 probably null Het
Mapk15 T C 15: 75,998,170 S380P probably benign Het
Mrpl48 G T 7: 100,546,344 probably benign Het
Nme8 T A 13: 19,677,908 I184L possibly damaging Het
Nrk A G X: 138,976,186 E712G probably damaging Het
Olfr1030 A G 2: 85,984,082 T81A possibly damaging Het
Olfr1215 T A 2: 89,002,163 T42S probably benign Het
Olfr1347 C T 7: 6,488,803 V17M possibly damaging Het
Olfr731 C A 14: 50,238,429 G152V probably damaging Het
Plekho1 A T 3: 95,995,564 Y36* probably null Het
Slco1a5 T A 6: 142,275,487 H11L probably damaging Het
Tiam2 T A 17: 3,421,481 M466K possibly damaging Het
Tnfrsf22 A T 7: 143,643,316 N95K probably damaging Het
Vmn1r90 T C 7: 14,561,897 Y92C probably damaging Het
Zc2hc1a T A 3: 7,528,624 L214* probably null Het
Zcchc17 C A 4: 130,337,127 V90F probably damaging Het
Zcchc7 T C 4: 44,761,868 probably benign Het
Zmiz1 T C 14: 25,656,763 V821A 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
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
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