Incidental Mutation 'IGL03221:Tmem200a'
ID413654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem200a
Ensembl Gene ENSMUSG00000049420
Gene Nametransmembrane protein 200A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL03221
Quality Score
Status
Chromosome10
Chromosomal Location25912331-26079052 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25994024 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 116 (F116I)
Ref Sequence ENSEMBL: ENSMUSP00000151861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
Predicted Effect possibly damaging
Transcript: ENSMUST00000066049
AA Change: F116I

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: F116I

DomainStartEndE-ValueType
Pfam:DUF2371 16 161 8.9e-62 PFAM
low complexity region 262 279 N/A INTRINSIC
low complexity region 387 401 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217910
Predicted Effect possibly damaging
Transcript: ENSMUST00000218232
AA Change: F116I

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000219338
AA Change: F116I

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219651
AA Change: F116I

PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp2b2 C T 6: 113,760,859 probably benign Het
BC051665 T A 13: 60,784,428 K116* probably null Het
Birc6 A T 17: 74,627,007 T2538S probably benign Het
Btn2a2 A G 13: 23,478,449 S435P probably damaging Het
Efhb A G 17: 53,398,986 L841P probably damaging Het
Etv4 C T 11: 101,774,162 R155K probably damaging Het
Fam126b C A 1: 58,540,186 V231L probably benign Het
Fnbp4 T A 2: 90,777,718 M928K possibly damaging Het
Grin2c A G 11: 115,254,044 probably benign Het
Grip1 A T 10: 119,986,394 M342L probably benign Het
H60c T A 10: 3,259,799 K163* probably null Het
Lilr4b A G 10: 51,481,428 probably benign Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mast4 A G 13: 102,754,256 V838A possibly damaging Het
Mypn C A 10: 63,131,123 D925Y probably damaging Het
Nol6 T C 4: 41,124,166 D27G probably benign Het
Olfr1202 T C 2: 88,817,437 S89P possibly damaging Het
Olfr1447 G T 19: 12,901,541 P80T probably damaging Het
Olfr916 A T 9: 38,658,365 V9E probably damaging Het
Pik3c2g A G 6: 139,772,407 probably null Het
Pik3c3 G T 18: 30,302,931 M394I probably benign Het
Rfx7 C T 9: 72,618,806 R1093C probably damaging Het
Scin A G 12: 40,076,974 V458A probably benign Het
Slc34a1 T C 13: 55,400,778 V39A probably benign Het
Slc6a4 A G 11: 77,027,105 M558V probably benign Het
Smpx T C X: 157,720,998 V65A probably damaging Het
Tnfrsf19 A T 14: 61,024,778 V12E probably benign Het
Trpc1 C T 9: 95,706,900 R757H probably damaging Het
Ttc38 T A 15: 85,834,541 S51T probably benign Het
Wee1 G A 7: 110,126,817 C378Y probably damaging Het
Other mutations in Tmem200a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Tmem200a APN 10 25994143 missense probably damaging 0.98
IGL02323:Tmem200a APN 10 25993430 missense probably benign 0.12
IGL02702:Tmem200a APN 10 25993603 missense probably damaging 1.00
R0467:Tmem200a UTSW 10 25994104 missense probably benign 0.09
R1169:Tmem200a UTSW 10 25994348 missense probably damaging 1.00
R1543:Tmem200a UTSW 10 26078620 unclassified probably benign
R1555:Tmem200a UTSW 10 25993884 missense probably damaging 1.00
R1630:Tmem200a UTSW 10 25992914 missense probably damaging 1.00
R1693:Tmem200a UTSW 10 25993979 missense possibly damaging 0.94
R1786:Tmem200a UTSW 10 25993927 missense probably damaging 1.00
R1891:Tmem200a UTSW 10 25994072 missense probably damaging 1.00
R2113:Tmem200a UTSW 10 25993322 missense probably damaging 1.00
R2260:Tmem200a UTSW 10 25993415 missense probably benign
R3793:Tmem200a UTSW 10 25994189 missense probably damaging 1.00
R5062:Tmem200a UTSW 10 25993915 missense probably damaging 1.00
R5178:Tmem200a UTSW 10 25994379 missense probably benign 0.02
R5195:Tmem200a UTSW 10 26078956 unclassified probably benign
R5208:Tmem200a UTSW 10 25994153 missense probably benign 0.00
R6045:Tmem200a UTSW 10 25993007 missense probably damaging 1.00
R6319:Tmem200a UTSW 10 25993495 missense probably damaging 1.00
R6552:Tmem200a UTSW 10 25993483 missense probably damaging 1.00
R7797:Tmem200a UTSW 10 25993966 missense possibly damaging 0.95
R8009:Tmem200a UTSW 10 25994006 missense probably damaging 1.00
R8074:Tmem200a UTSW 10 25992952 missense probably damaging 1.00
Posted On2016-08-02