Incidental Mutation 'R1555:Tmem200a'
ID170230
Institutional Source Beutler Lab
Gene Symbol Tmem200a
Ensembl Gene ENSMUSG00000049420
Gene Nametransmembrane protein 200A
Synonyms
MMRRC Submission 039594-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #R1555 (G1)
Quality Score225
Status Validated
Chromosome10
Chromosomal Location25912331-26079052 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 25993884 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 162 (D162E)
Ref Sequence ENSEMBL: ENSMUSP00000151832 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066049] [ENSMUST00000218232] [ENSMUST00000219338] [ENSMUST00000219651] [ENSMUST00000219872]
Predicted Effect probably damaging
Transcript: ENSMUST00000066049
AA Change: D162E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: D162E

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: D162E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000219338
AA Change: D162E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect probably damaging
Transcript: ENSMUST00000219651
AA Change: D162E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000219872
Meta Mutation Damage Score 0.1584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace A G 11: 105,974,901 probably null Het
Adamts1 T A 16: 85,797,888 T358S probably benign Het
Ate1 A T 7: 130,509,091 F169I probably benign Het
Cdkl4 T A 17: 80,543,614 probably benign Het
Clcnkb T C 4: 141,411,739 probably null Het
Col6a4 C T 9: 106,000,886 R1964Q possibly damaging Het
Dcakd C T 11: 103,000,213 V17I probably damaging Het
Dcdc5 T G 2: 106,384,135 noncoding transcript Het
Erc2 T A 14: 28,011,665 D557E probably damaging Het
Grid2 A T 6: 64,429,684 D676V possibly damaging Het
Hebp2 G T 10: 18,544,415 T90K possibly damaging Het
Igkv10-96 C T 6: 68,632,381 probably benign Het
Mier3 T A 13: 111,708,359 N248K probably damaging Het
Myo5b A T 18: 74,569,782 I15F probably damaging Het
Neurl3 A G 1: 36,266,532 V198A probably benign Het
Notch2 C A 3: 98,131,340 N1266K possibly damaging Het
Nup107 A G 10: 117,751,490 probably benign Het
Olfr214 A T 6: 116,556,826 I134F probably damaging Het
Olfr675 T C 7: 105,024,522 I153V probably benign Het
Phf3 G T 1: 30,805,877 H1334N possibly damaging Het
Phyhd1 T A 2: 30,274,706 I100N probably damaging Het
Rad21l T A 2: 151,658,428 T224S probably benign Het
Rxra C T 2: 27,748,678 A231V probably benign Het
Sac3d1 T C 19: 6,118,405 D61G probably damaging Het
Sbf1 A G 15: 89,305,076 Y481H probably damaging Het
Spg11 T C 2: 122,097,377 E642G probably damaging Het
Spta1 A G 1: 174,178,749 Y159C probably damaging Het
Sry C G Y: 2,662,975 Q228H unknown Het
Tedc1 G T 12: 113,156,497 probably benign Het
Tmprss11e T A 5: 86,715,588 Q206L probably damaging Het
Tpra1 A G 6: 88,910,203 N175S probably damaging Het
Ttll10 T C 4: 156,035,139 E601G probably benign Het
Ttll6 G T 11: 96,145,582 D346Y probably damaging Het
U2surp A G 9: 95,466,577 V874A probably damaging Het
Vwa5b1 T C 4: 138,605,477 K258R probably benign Het
Xkr6 A G 14: 63,818,925 Y95C unknown Het
Zfp180 T C 7: 24,101,574 probably benign Het
Zfp90 A G 8: 106,424,095 T147A probably benign 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
IGL03221:Tmem200a APN 10 25994024 missense possibly damaging 0.54
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
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
Predicted Primers PCR Primer
(F):5'- TGCACTGTCAGATAGCAACGGG -3'
(R):5'- TGCGCTTCTTTGAGCAGCATCTAC -3'

Sequencing Primer
(F):5'- GTCCACCCGAAAGCTGTTC -3'
(R):5'- TGAGCAGCATCTACATTCCG -3'
Posted On2014-04-13