Incidental Mutation 'IGL02702:Tmem200a'
ID 304175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem200a
Ensembl Gene ENSMUSG00000049420
Gene Name transmembrane protein 200A
Synonyms C030003D03Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL02702
Quality Score
Status
Chromosome 10
Chromosomal Location 25867080-25955713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25869501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 256 (G256D)
Ref Sequence ENSEMBL: ENSMUSP00000151861 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
AlphaFold Q8C817
Predicted Effect probably damaging
Transcript: ENSMUST00000066049
AA Change: G256D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: G256D

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 probably damaging
Transcript: ENSMUST00000218232
AA Change: G256D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219338
Predicted Effect probably benign
Transcript: ENSMUST00000219651
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 C T 6: 88,815,120 (GRCm39) V337I probably benign Het
Adam11 G A 11: 102,667,864 (GRCm39) V750I probably benign Het
Alms1 T C 6: 85,576,831 (GRCm39) V129A probably benign Het
Cacna1d T A 14: 29,845,490 (GRCm39) K560* probably null Het
Cntn1 A G 15: 92,189,482 (GRCm39) probably benign Het
Cpne2 T C 8: 95,296,651 (GRCm39) V530A probably benign Het
Fbxo21 T C 5: 118,138,575 (GRCm39) L507P probably damaging Het
Fndc4 T C 5: 31,451,079 (GRCm39) K204R probably damaging Het
Gnrhr G T 5: 86,330,128 (GRCm39) N297K possibly damaging Het
Grin2b A G 6: 135,716,130 (GRCm39) F729S probably damaging Het
Hdac3 C A 18: 38,074,147 (GRCm39) R359L probably benign Het
Met T C 6: 17,534,142 (GRCm39) S662P possibly damaging Het
Mphosph9 T A 5: 124,398,052 (GRCm39) E1081D probably damaging Het
Mycbp2 T G 14: 103,457,560 (GRCm39) T1546P probably benign Het
Nlrp9a T A 7: 26,264,381 (GRCm39) M767K possibly damaging Het
Olfm5 A G 7: 103,803,564 (GRCm39) Y300H probably damaging Het
Or8b47 T A 9: 38,435,856 (GRCm39) V276D probably damaging Het
Pcf11 A T 7: 92,310,826 (GRCm39) N178K possibly damaging Het
Polr3a T C 14: 24,520,945 (GRCm39) I571M probably benign Het
Ppef2 T A 5: 92,379,678 (GRCm39) R557W probably benign Het
Prelid3a T A 18: 67,606,864 (GRCm39) D85E probably damaging Het
Rb1cc1 A G 1: 6,310,247 (GRCm39) E215G probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Recql4 C T 15: 76,591,485 (GRCm39) G501R probably damaging Het
Sema3e T C 5: 14,283,740 (GRCm39) probably benign Het
Shisa6 A C 11: 66,110,788 (GRCm39) L318V probably damaging Het
Slu7 T C 11: 43,329,719 (GRCm39) probably benign Het
Spink12 T C 18: 44,237,836 (GRCm39) V38A probably benign Het
Syne2 A G 12: 76,144,698 (GRCm39) D1549G probably damaging Het
Tet1 A G 10: 62,715,531 (GRCm39) V88A possibly damaging Het
Ttn G T 2: 76,714,835 (GRCm39) probably benign Het
Ugt2b34 T C 5: 87,040,750 (GRCm39) I391V probably benign Het
Zfp292 A T 4: 34,809,415 (GRCm39) L1215I probably benign Het
Zfp410 C A 12: 84,372,550 (GRCm39) N125K probably damaging Het
Other mutations in Tmem200a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Tmem200a APN 10 25,870,041 (GRCm39) missense probably damaging 0.98
IGL02323:Tmem200a APN 10 25,869,328 (GRCm39) missense probably benign 0.12
IGL03221:Tmem200a APN 10 25,869,922 (GRCm39) missense possibly damaging 0.54
R0467:Tmem200a UTSW 10 25,870,002 (GRCm39) missense probably benign 0.09
R1169:Tmem200a UTSW 10 25,870,246 (GRCm39) missense probably damaging 1.00
R1543:Tmem200a UTSW 10 25,954,518 (GRCm39) unclassified probably benign
R1555:Tmem200a UTSW 10 25,869,782 (GRCm39) missense probably damaging 1.00
R1630:Tmem200a UTSW 10 25,868,812 (GRCm39) missense probably damaging 1.00
R1693:Tmem200a UTSW 10 25,869,877 (GRCm39) missense possibly damaging 0.94
R1786:Tmem200a UTSW 10 25,869,825 (GRCm39) missense probably damaging 1.00
R1891:Tmem200a UTSW 10 25,869,970 (GRCm39) missense probably damaging 1.00
R2113:Tmem200a UTSW 10 25,869,220 (GRCm39) missense probably damaging 1.00
R2260:Tmem200a UTSW 10 25,869,313 (GRCm39) missense probably benign
R3793:Tmem200a UTSW 10 25,870,087 (GRCm39) missense probably damaging 1.00
R5062:Tmem200a UTSW 10 25,869,813 (GRCm39) missense probably damaging 1.00
R5178:Tmem200a UTSW 10 25,870,277 (GRCm39) missense probably benign 0.02
R5195:Tmem200a UTSW 10 25,954,854 (GRCm39) unclassified probably benign
R5208:Tmem200a UTSW 10 25,870,051 (GRCm39) missense probably benign 0.00
R6045:Tmem200a UTSW 10 25,868,905 (GRCm39) missense probably damaging 1.00
R6319:Tmem200a UTSW 10 25,869,393 (GRCm39) missense probably damaging 1.00
R6552:Tmem200a UTSW 10 25,869,381 (GRCm39) missense probably damaging 1.00
R7797:Tmem200a UTSW 10 25,869,864 (GRCm39) missense possibly damaging 0.95
R7961:Tmem200a UTSW 10 25,869,904 (GRCm39) missense probably damaging 1.00
R7989:Tmem200a UTSW 10 25,869,955 (GRCm39) missense probably benign
R8009:Tmem200a UTSW 10 25,869,904 (GRCm39) missense probably damaging 1.00
R8074:Tmem200a UTSW 10 25,868,850 (GRCm39) missense probably damaging 1.00
R9254:Tmem200a UTSW 10 25,869,654 (GRCm39) missense probably damaging 1.00
R9358:Tmem200a UTSW 10 25,869,677 (GRCm39) missense probably benign 0.20
Posted On 2015-04-16