Incidental Mutation 'R8542:Tmem209'
ID 659417
Institutional Source Beutler Lab
Gene Symbol Tmem209
Ensembl Gene ENSMUSG00000029782
Gene Name transmembrane protein 209
Synonyms 2700094F01Rik
MMRRC Submission 068507-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # R8542 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 30480806-30509786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 30497237 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 318 (V318F)
Ref Sequence ENSEMBL: ENSMUSP00000100056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064330] [ENSMUST00000102991] [ENSMUST00000115157] [ENSMUST00000115160] [ENSMUST00000138823] [ENSMUST00000151187] [ENSMUST00000154547] [ENSMUST00000222934]
AlphaFold Q8BRG8
Predicted Effect probably damaging
Transcript: ENSMUST00000064330
AA Change: V318F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: V318F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 343 4.1e-88 PFAM
Pfam:CytochromB561_N 341 438 2.2e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000102991
AA Change: V318F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: V318F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 376 5.2e-107 PFAM
Pfam:CytochromB561_N 372 519 3.1e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115157
AA Change: V317F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: V317F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 4 560 4.8e-209 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115160
AA Change: V318F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: V318F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 6 560 6.4e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138823
AA Change: V318F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: V318F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 560 1.2e-205 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151187
AA Change: V160F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: V160F

DomainStartEndE-ValueType
Pfam:CytochromB561_N 1 403 1.5e-160 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154547
SMART Domains Protein: ENSMUSP00000145248
Gene: ENSMUSG00000029782

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000222934
AA Change: V160F

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,634,369 (GRCm39) T634A probably benign Het
Abca12 C T 1: 71,349,047 (GRCm39) probably null Het
Acsl5 A G 19: 55,280,259 (GRCm39) T511A probably damaging Het
Alkbh1 A G 12: 87,478,275 (GRCm39) F212S probably damaging Het
Ankrd35 A G 3: 96,589,353 (GRCm39) I191V probably damaging Het
Apmap T C 2: 150,428,385 (GRCm39) Q254R probably benign Het
Atp10b A G 11: 43,121,208 (GRCm39) D957G probably benign Het
Bag6 G A 17: 35,363,334 (GRCm39) G725S probably damaging Het
Braf T C 6: 39,604,693 (GRCm39) H592R probably benign Het
Cilp A T 9: 65,185,405 (GRCm39) D500V probably damaging Het
Col27a1 T A 4: 63,239,662 (GRCm39) probably null Het
Defa3 T A 8: 21,778,179 (GRCm39) probably null Het
Dst C T 1: 34,231,688 (GRCm39) H3272Y possibly damaging Het
Egfl8 A G 17: 34,833,243 (GRCm39) C168R probably damaging Het
Eppk1 C T 15: 75,994,319 (GRCm39) R854Q probably benign Het
Gipc3 T A 10: 81,174,055 (GRCm39) M240L possibly damaging Het
Gm49368 T C 7: 127,679,433 (GRCm39) Y192H probably damaging Het
Ier5l A G 2: 30,362,948 (GRCm39) I359T possibly damaging Het
Impg1 C T 9: 80,312,080 (GRCm39) E168K probably damaging Het
Iqcn C A 8: 71,166,520 (GRCm39) probably null Het
Kcnq5 G A 1: 21,549,648 (GRCm39) R360C probably damaging Het
Kctd2 G T 11: 115,320,310 (GRCm39) probably benign Het
Kdm5b A T 1: 134,533,512 (GRCm39) M534L possibly damaging Het
Kif14 T A 1: 136,396,495 (GRCm39) V267D possibly damaging Het
Klra3 A T 6: 130,310,096 (GRCm39) probably null Het
Lmod1 T C 1: 135,292,221 (GRCm39) F359L possibly damaging Het
Mmp24 A G 2: 155,641,634 (GRCm39) E154G probably benign Het
Morc3 G T 16: 93,644,319 (GRCm39) probably null Het
Mtus2 A C 5: 148,240,408 (GRCm39) K85T probably damaging Het
Ncam1 G T 9: 49,419,898 (GRCm39) T806K probably damaging Het
Noc2l A G 4: 156,326,187 (GRCm39) T425A probably benign Het
Olfm3 A T 3: 114,916,196 (GRCm39) Q376L probably benign Het
Or52m2 A G 7: 102,263,872 (GRCm39) V108A probably benign Het
Pax5 A T 4: 44,570,071 (GRCm39) Y272N probably damaging Het
Pfkp G T 13: 6,631,557 (GRCm39) A166E possibly damaging Het
Pnpt1 C A 11: 29,082,773 (GRCm39) probably null Het
Prss40 A G 1: 34,596,967 (GRCm39) W76R probably damaging Het
Rbms1 A C 2: 60,612,265 (GRCm39) V165G probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl3l A G 17: 24,954,754 (GRCm39) D369G probably damaging Het
Sdr42e2 C A 7: 120,417,137 (GRCm39) P194Q probably damaging Het
Slc29a3 A G 10: 60,566,401 (GRCm39) S111P probably damaging Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
St6galnac6 T A 2: 32,509,513 (GRCm39) I305N probably damaging Het
Tanc2 A G 11: 105,807,834 (GRCm39) E1288G probably damaging Het
Tdrd6 T C 17: 43,935,783 (GRCm39) E1755G probably damaging Het
Tenm4 A T 7: 96,461,139 (GRCm39) D895V probably damaging Het
Tmem190 T A 7: 4,787,157 (GRCm39) C120* probably null Het
Traf3ip3 T A 1: 192,876,851 (GRCm39) I196F probably damaging Het
Trpc4ap G C 2: 155,534,132 (GRCm39) P32R unknown Het
Usp20 T G 2: 30,901,636 (GRCm39) V467G possibly damaging Het
Vav3 A G 3: 109,410,787 (GRCm39) K206R probably damaging Het
Zbtb17 CCCCCACCTCCACAGACCCCA CCCCCACCTCCACAGACCCCACCTCCACAGACCCCA 4: 141,194,139 (GRCm39) probably benign Het
Zfp629 C A 7: 127,210,364 (GRCm39) E482* probably null Het
Other mutations in Tmem209
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Tmem209 APN 6 30,487,416 (GRCm39) missense probably damaging 0.99
IGL01068:Tmem209 APN 6 30,502,085 (GRCm39) missense probably benign 0.18
IGL02106:Tmem209 APN 6 30,508,659 (GRCm39) splice site probably null
IGL02109:Tmem209 APN 6 30,497,944 (GRCm39) missense probably damaging 1.00
IGL02250:Tmem209 APN 6 30,487,387 (GRCm39) missense probably damaging 1.00
R0012:Tmem209 UTSW 6 30,502,112 (GRCm39) splice site probably benign
R0426:Tmem209 UTSW 6 30,491,181 (GRCm39) missense probably damaging 0.99
R0452:Tmem209 UTSW 6 30,487,380 (GRCm39) missense probably damaging 1.00
R0557:Tmem209 UTSW 6 30,501,913 (GRCm39) missense probably damaging 0.99
R0690:Tmem209 UTSW 6 30,505,833 (GRCm39) missense probably null 1.00
R1202:Tmem209 UTSW 6 30,508,789 (GRCm39) missense probably benign 0.01
R1697:Tmem209 UTSW 6 30,497,867 (GRCm39) missense probably benign 0.00
R3821:Tmem209 UTSW 6 30,505,959 (GRCm39) missense probably damaging 1.00
R4795:Tmem209 UTSW 6 30,501,954 (GRCm39) missense probably benign 0.00
R5131:Tmem209 UTSW 6 30,497,166 (GRCm39) missense probably benign 0.00
R5715:Tmem209 UTSW 6 30,497,922 (GRCm39) nonsense probably null
R6030:Tmem209 UTSW 6 30,482,967 (GRCm39) missense probably damaging 1.00
R6030:Tmem209 UTSW 6 30,482,967 (GRCm39) missense probably damaging 1.00
R6153:Tmem209 UTSW 6 30,505,794 (GRCm39) missense probably benign 0.01
R6181:Tmem209 UTSW 6 30,505,970 (GRCm39) missense probably damaging 1.00
R6256:Tmem209 UTSW 6 30,497,166 (GRCm39) missense probably benign 0.00
R6721:Tmem209 UTSW 6 30,497,174 (GRCm39) missense probably benign 0.00
R6873:Tmem209 UTSW 6 30,508,455 (GRCm39) missense probably damaging 1.00
R7062:Tmem209 UTSW 6 30,502,016 (GRCm39) missense probably damaging 1.00
R7341:Tmem209 UTSW 6 30,494,794 (GRCm39) missense probably benign 0.00
R7461:Tmem209 UTSW 6 30,508,469 (GRCm39) nonsense probably null
R7790:Tmem209 UTSW 6 30,497,854 (GRCm39) missense probably damaging 1.00
R8354:Tmem209 UTSW 6 30,489,308 (GRCm39) missense probably damaging 0.97
R8454:Tmem209 UTSW 6 30,489,308 (GRCm39) missense probably damaging 0.97
R8527:Tmem209 UTSW 6 30,497,237 (GRCm39) missense probably damaging 1.00
R8889:Tmem209 UTSW 6 30,497,942 (GRCm39) missense possibly damaging 0.91
R8892:Tmem209 UTSW 6 30,497,942 (GRCm39) missense possibly damaging 0.91
R8928:Tmem209 UTSW 6 30,489,365 (GRCm39) missense probably damaging 1.00
R9222:Tmem209 UTSW 6 30,506,838 (GRCm39) missense probably damaging 0.98
RF020:Tmem209 UTSW 6 30,487,417 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- AGTTCAATGACTGGCACGAAAC -3'
(R):5'- TACCATGTACTAGACCGTTACATTC -3'

Sequencing Primer
(F):5'- TCTAGAGCCCATGGAGGTCAG -3'
(R):5'- CATTTGGGAATCTGTACTTCAT -3'
Posted On 2021-01-18