Incidental Mutation 'R5751:Tmem200c'
ID 446022
Institutional Source Beutler Lab
Gene Symbol Tmem200c
Ensembl Gene ENSMUSG00000095407
Gene Name transmembrane protein 200C
Synonyms Gm6338
MMRRC Submission 043201-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R5751 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 69144084-69150133 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69147547 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 43 (K43N)
Ref Sequence ENSEMBL: ENSMUSP00000137246 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178545]
AlphaFold J3QK46
Predicted Effect probably damaging
Transcript: ENSMUST00000178545
AA Change: K43N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137246
Gene: ENSMUSG00000095407
AA Change: K43N

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,368,893 (GRCm39) T1704A possibly damaging Het
Adam6a T A 12: 113,508,447 (GRCm39) D273E possibly damaging Het
Adgrv1 T A 13: 81,670,355 (GRCm39) L1610F probably damaging Het
Ago2 C T 15: 73,000,172 (GRCm39) probably null Het
Apob T A 12: 8,062,619 (GRCm39) Y87* probably null Het
Aqp7 G A 4: 41,035,510 (GRCm39) T115I probably benign Het
Atp7b A G 8: 22,508,144 (GRCm39) V599A probably damaging Het
Dnah1 T A 14: 31,032,863 (GRCm39) I391F probably benign Het
Emc2 A G 15: 43,360,453 (GRCm39) probably null Het
Gbp9 G T 5: 105,229,124 (GRCm39) Q508K probably benign Het
Grpel1 C T 5: 36,626,811 (GRCm39) T31M probably benign Het
Gtf3c4 C T 2: 28,717,511 (GRCm39) A790T probably damaging Het
Hmcn1 A G 1: 150,449,305 (GRCm39) C115R probably damaging Het
Ik G A 18: 36,886,566 (GRCm39) R346H probably benign Het
Ldc1 A C 4: 130,114,234 (GRCm39) V61G probably benign Het
Lhx3 A G 2: 26,091,173 (GRCm39) S379P probably benign Het
Mocs1 A G 17: 49,756,766 (GRCm39) probably null Het
Mycbp2 C A 14: 103,385,986 (GRCm39) V3457F probably damaging Het
Or14j7 A T 17: 38,234,861 (GRCm39) I135L probably benign Het
Or4a2 A T 2: 89,248,031 (GRCm39) I242N probably damaging Het
Or5an6 G A 19: 12,371,780 (GRCm39) R51K probably benign Het
Orc5 C T 5: 22,704,969 (GRCm39) probably null Het
Phf20 T C 2: 156,109,261 (GRCm39) S203P probably benign Het
Pkd1l1 T C 11: 8,817,204 (GRCm39) S1815G possibly damaging Het
Pnpla7 T C 2: 24,871,790 (GRCm39) V11A probably damaging Het
Ranbp2 T C 10: 58,300,086 (GRCm39) probably null Het
Ranbp3l A G 15: 9,063,169 (GRCm39) D326G probably damaging Het
Rsph4a C T 10: 33,781,789 (GRCm39) A213V probably damaging Het
Sema3b A G 9: 107,476,913 (GRCm39) S570P probably benign Het
Spata31d1b T A 13: 59,866,787 (GRCm39) C1312S probably benign Het
Sphkap G T 1: 83,253,618 (GRCm39) T1377K probably benign Het
Stk32a A T 18: 43,438,085 (GRCm39) R195W possibly damaging Het
Tacr2 T C 10: 62,088,769 (GRCm39) I58T probably damaging Het
Tnik T C 3: 28,648,241 (GRCm39) M431T probably benign Het
Uckl1 A G 2: 181,216,245 (GRCm39) S167P possibly damaging Het
Vmn2r90 A G 17: 17,954,128 (GRCm39) Y764C probably damaging Het
Zan C T 5: 137,408,423 (GRCm39) probably null Het
Other mutations in Tmem200c
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0360:Tmem200c UTSW 17 69,147,543 (GRCm39) missense probably damaging 1.00
R0364:Tmem200c UTSW 17 69,147,543 (GRCm39) missense probably damaging 1.00
R0599:Tmem200c UTSW 17 69,147,506 (GRCm39) missense probably damaging 1.00
R0711:Tmem200c UTSW 17 69,149,249 (GRCm39) missense probably damaging 1.00
R1311:Tmem200c UTSW 17 69,147,758 (GRCm39) missense probably damaging 0.98
R1852:Tmem200c UTSW 17 69,147,612 (GRCm39) missense probably damaging 1.00
R1951:Tmem200c UTSW 17 69,147,983 (GRCm39) missense probably damaging 1.00
R1954:Tmem200c UTSW 17 69,147,956 (GRCm39) missense probably damaging 1.00
R1955:Tmem200c UTSW 17 69,147,956 (GRCm39) missense probably damaging 1.00
R2144:Tmem200c UTSW 17 69,149,244 (GRCm39) missense possibly damaging 0.49
R2189:Tmem200c UTSW 17 69,147,681 (GRCm39) missense probably damaging 0.98
R2397:Tmem200c UTSW 17 69,147,942 (GRCm39) missense probably damaging 1.00
R4546:Tmem200c UTSW 17 69,149,166 (GRCm39) missense probably benign
R4715:Tmem200c UTSW 17 69,147,465 (GRCm39) missense probably damaging 1.00
R4752:Tmem200c UTSW 17 69,149,235 (GRCm39) missense probably benign 0.05
R5214:Tmem200c UTSW 17 69,148,122 (GRCm39) missense probably damaging 1.00
R5827:Tmem200c UTSW 17 69,149,004 (GRCm39) missense probably benign 0.00
R5989:Tmem200c UTSW 17 69,144,431 (GRCm39) start gained probably benign
R6024:Tmem200c UTSW 17 69,148,722 (GRCm39) missense possibly damaging 0.49
R6634:Tmem200c UTSW 17 69,149,101 (GRCm39) missense probably benign 0.26
R7527:Tmem200c UTSW 17 69,148,671 (GRCm39) missense probably benign 0.04
R8046:Tmem200c UTSW 17 69,147,513 (GRCm39) missense probably benign 0.29
R8927:Tmem200c UTSW 17 69,148,733 (GRCm39) missense probably benign 0.00
R8928:Tmem200c UTSW 17 69,148,733 (GRCm39) missense probably benign 0.00
R9185:Tmem200c UTSW 17 69,147,633 (GRCm39) missense probably damaging 1.00
R9241:Tmem200c UTSW 17 69,144,161 (GRCm39) start gained probably benign
R9374:Tmem200c UTSW 17 69,148,682 (GRCm39) missense probably damaging 1.00
R9651:Tmem200c UTSW 17 69,149,181 (GRCm39) missense probably benign 0.02
R9652:Tmem200c UTSW 17 69,149,181 (GRCm39) missense probably benign 0.02
R9653:Tmem200c UTSW 17 69,149,181 (GRCm39) missense probably benign 0.02
R9775:Tmem200c UTSW 17 69,149,118 (GRCm39) missense probably damaging 1.00
Z1176:Tmem200c UTSW 17 69,148,790 (GRCm39) missense probably damaging 0.99
Z1177:Tmem200c UTSW 17 69,148,339 (GRCm39) missense probably benign 0.26
Z1177:Tmem200c UTSW 17 69,148,332 (GRCm39) missense probably benign 0.13
Z1177:Tmem200c UTSW 17 69,148,431 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCTACTTTGCGCAGGAG -3'
(R):5'- TGTTGCTGATGGCCCCAATG -3'

Sequencing Primer
(F):5'- TGACCAAGCAGCTAGTGGGC -3'
(R):5'- CCAATGCGATGGCTACTGC -3'
Posted On 2016-11-21