Incidental Mutation 'IGL01098:Tmem200a'
ID 52092
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 # IGL01098
Quality Score
Status
Chromosome 10
Chromosomal Location 25867080-25955713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25870041 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 76 (I76T)
Ref Sequence ENSEMBL: ENSMUSP00000151494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
AlphaFold Q8C817
Predicted Effect possibly damaging
Transcript: ENSMUST00000066049
AA Change: I76T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: I76T

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: I76T

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000219338
AA Change: I76T

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219651
AA Change: I76T

PolyPhen 2 Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,453 (GRCm39) D75G possibly damaging Het
Brip1 G T 11: 85,999,688 (GRCm39) R765S possibly damaging Het
Btbd16 T C 7: 130,424,975 (GRCm39) I452T probably damaging Het
Cdc42ep4 T G 11: 113,620,328 (GRCm39) D21A probably damaging Het
Cdx2 T A 5: 147,243,792 (GRCm39) M1L possibly damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Csmd2 C T 4: 127,952,845 (GRCm39) T98M probably damaging Het
Cyp26a1 A T 19: 37,688,450 (GRCm39) Q324L probably benign Het
Etaa1 A G 11: 17,896,059 (GRCm39) V686A probably damaging Het
Gpr6 G A 10: 40,946,739 (GRCm39) T281I probably damaging Het
Herc1 T A 9: 66,369,204 (GRCm39) probably null Het
Lama2 A T 10: 26,907,108 (GRCm39) I2351N possibly damaging Het
Lman1 A G 18: 66,124,711 (GRCm39) F343L probably damaging Het
Lmo1 A G 7: 108,742,657 (GRCm39) probably benign Het
Lrrc17 T A 5: 21,780,269 (GRCm39) F414L probably benign Het
Man2b2 A T 5: 36,972,900 (GRCm39) L538Q probably damaging Het
Map3k9 A G 12: 81,770,928 (GRCm39) S910P probably damaging Het
Mapk1ip1 G A 7: 138,438,191 (GRCm39) P80S probably damaging Het
Mindy4 G T 6: 55,261,727 (GRCm39) probably benign Het
Msh4 A T 3: 153,583,619 (GRCm39) probably benign Het
Mta2 A G 19: 8,924,081 (GRCm39) D187G probably damaging Het
Olfml2a A G 2: 38,837,226 (GRCm39) probably null Het
Pink1 A T 4: 138,047,408 (GRCm39) probably null Het
Plekha6 T C 1: 133,209,903 (GRCm39) F575L possibly damaging Het
Rpe C A 1: 66,745,674 (GRCm39) D71E probably benign Het
Slc5a7 C T 17: 54,599,988 (GRCm39) A142T probably benign Het
Sptbn1 C T 11: 30,109,385 (GRCm39) R70K probably damaging Het
Taf1c G T 8: 120,329,580 (GRCm39) Q159K probably damaging Het
Tgfb1i1 T C 7: 127,851,693 (GRCm39) F311S probably damaging Het
Tmc8 T C 11: 117,683,389 (GRCm39) V648A possibly damaging Het
Tmed8 G T 12: 87,223,445 (GRCm39) A98E probably benign Het
Vmn2r104 T C 17: 20,268,358 (GRCm39) E37G probably benign Het
Vmn2r18 A T 5: 151,496,296 (GRCm39) V474E probably damaging Het
Vps52 C T 17: 34,181,704 (GRCm39) T510I possibly damaging Het
Wwox G T 8: 115,172,118 (GRCm39) G71* probably null Het
Zer1 C T 2: 29,998,232 (GRCm39) probably null Het
Zfp296 A T 7: 19,311,845 (GRCm39) K117N possibly damaging Het
Other mutations in Tmem200a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Tmem200a APN 10 25,869,328 (GRCm39) missense probably benign 0.12
IGL02702:Tmem200a APN 10 25,869,501 (GRCm39) missense probably damaging 1.00
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 2013-06-21