Incidental Mutation 'R2189:Tmem200c'
ID237995
Institutional Source Beutler Lab
Gene Symbol Tmem200c
Ensembl Gene ENSMUSG00000095407
Gene Nametransmembrane protein 200C
SynonymsGm6338
MMRRC Submission 040191-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.105) question?
Stock #R2189 (G1)
Quality Score224
Status Not validated
Chromosome17
Chromosomal Location68837136-68843138 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 68840686 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 88 (Q88R)
Ref Sequence ENSEMBL: ENSMUSP00000137246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178545]
Predicted Effect probably damaging
Transcript: ENSMUST00000178545
AA Change: Q88R

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000137246
Gene: ENSMUSG00000095407
AA Change: Q88R

DomainStartEndE-ValueType
Pfam:DUF2371 14 209 4.1e-65 PFAM
SCOP:d1gkub1 227 258 2e-3 SMART
low complexity region 272 291 N/A INTRINSIC
low complexity region 347 377 N/A INTRINSIC
low complexity region 382 398 N/A INTRINSIC
low complexity region 473 486 N/A INTRINSIC
low complexity region 496 509 N/A INTRINSIC
low complexity region 538 550 N/A INTRINSIC
low complexity region 584 599 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G C 7: 79,098,091 G870A probably damaging Het
Adamtsl2 T C 2: 27,081,738 W12R probably benign Het
Bsph1 G A 7: 13,470,329 probably null Het
Celsr1 G T 15: 85,979,230 H1200Q possibly damaging Het
Clptm1 A T 7: 19,637,145 Y355* probably null Het
Cry2 T C 2: 92,411,692 E572G possibly damaging Het
Dlk1 G A 12: 109,455,049 probably null Het
Eral1 A G 11: 78,075,831 V201A probably benign Het
Esrp1 A T 4: 11,357,603 M503K probably benign Het
Fam83e G T 7: 45,722,183 M1I probably null Het
Flt4 G A 11: 49,635,698 A835T probably benign Het
Hdac4 T C 1: 91,975,522 S562G probably null Het
Hist1h2bn A G 13: 21,754,277 D52G probably damaging Het
Icosl A G 10: 78,073,925 T235A possibly damaging Het
Itga6 A G 2: 71,825,617 D295G probably benign Het
Klk14 G A 7: 43,692,077 C51Y probably damaging Het
Lipa A T 19: 34,524,799 L15Q probably benign Het
Mcc T C 18: 44,534,230 E218G possibly damaging Het
Mdga2 A G 12: 66,473,196 probably null Het
Mmadhc A C 2: 50,288,946 C153W probably damaging Het
Myh1 A G 11: 67,221,604 D1799G probably damaging Het
Nlrp1b T A 11: 71,169,795 Q729L probably damaging Het
Ofcc1 T A 13: 40,180,448 Q389L probably benign Het
Olfr1030 A G 2: 85,984,068 D76G probably damaging Het
Olfr469 T C 7: 107,822,615 I285V probably benign Het
Olfr481 A T 7: 108,081,036 M81L possibly damaging Het
Olfr691 A G 7: 105,337,602 V38A probably benign Het
Pml T C 9: 58,234,874 N225S probably benign Het
Rnf213 A G 11: 119,430,361 E1215G probably benign Het
Scap T A 9: 110,377,693 I402N probably damaging Het
Sgsm2 A G 11: 74,853,082 L886P probably damaging Het
Sugct T C 13: 17,662,266 I104V probably benign Het
Tnfrsf1a T A 6: 125,357,805 L14Q probably benign Het
Tnk2 C T 16: 32,671,421 L381F probably damaging Het
Ubr2 C T 17: 46,943,364 V1454I probably benign Het
V1ra8 A C 6: 90,202,962 D49A probably damaging Het
Vmn2r5 A C 3: 64,509,593 M48R probably benign Het
Yars A G 4: 129,206,189 I227V probably damaging Het
Zfp850 C A 7: 27,989,055 R576L probably benign Het
Zfpm2 T A 15: 41,101,183 F223I possibly damaging Het
Other mutations in Tmem200c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0360:Tmem200c UTSW 17 68840548 missense probably damaging 1.00
R0364:Tmem200c UTSW 17 68840548 missense probably damaging 1.00
R0599:Tmem200c UTSW 17 68840511 missense probably damaging 1.00
R0711:Tmem200c UTSW 17 68842254 missense probably damaging 1.00
R1311:Tmem200c UTSW 17 68840763 missense probably damaging 0.98
R1852:Tmem200c UTSW 17 68840617 missense probably damaging 1.00
R1951:Tmem200c UTSW 17 68840988 missense probably damaging 1.00
R1954:Tmem200c UTSW 17 68840961 missense probably damaging 1.00
R1955:Tmem200c UTSW 17 68840961 missense probably damaging 1.00
R2144:Tmem200c UTSW 17 68842249 missense possibly damaging 0.49
R2397:Tmem200c UTSW 17 68840947 missense probably damaging 1.00
R4546:Tmem200c UTSW 17 68842171 missense probably benign
R4715:Tmem200c UTSW 17 68840470 missense probably damaging 1.00
R4752:Tmem200c UTSW 17 68842240 missense probably benign 0.05
R5214:Tmem200c UTSW 17 68841127 missense probably damaging 1.00
R5751:Tmem200c UTSW 17 68840552 missense probably damaging 1.00
R5827:Tmem200c UTSW 17 68842009 missense probably benign 0.00
R5989:Tmem200c UTSW 17 68837436 start gained probably benign
R6024:Tmem200c UTSW 17 68841727 missense possibly damaging 0.49
R6634:Tmem200c UTSW 17 68842106 missense probably benign 0.26
R7527:Tmem200c UTSW 17 68841676 missense probably benign 0.04
R8046:Tmem200c UTSW 17 68840518 missense probably benign 0.29
Z1176:Tmem200c UTSW 17 68841795 missense probably damaging 0.99
Z1177:Tmem200c UTSW 17 68841337 missense probably benign 0.13
Z1177:Tmem200c UTSW 17 68841344 missense probably benign 0.26
Z1177:Tmem200c UTSW 17 68841436 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGCGAGAAAGCAGGATCCTC -3'
(R):5'- CTGAGTGCAAGTAGCCTGAG -3'

Sequencing Primer
(F):5'- CAGGTCCCTAAGCGCAAGAG -3'
(R):5'- TGCAAGTAGCCTGAGAAGATTC -3'
Posted On2014-10-02