Incidental Mutation 'IGL02250:Tmem209'
ID 286340
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem209
Ensembl Gene ENSMUSG00000029782
Gene Name transmembrane protein 209
Synonyms 2700094F01Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # IGL02250
Quality Score
Status
Chromosome 6
Chromosomal Location 30480806-30509786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30487387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 498 (S498P)
Ref Sequence ENSEMBL: ENSMUSP00000100056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064330] [ENSMUST00000102991] [ENSMUST00000115157] [ENSMUST00000115160] [ENSMUST00000138823] [ENSMUST00000151187] [ENSMUST00000222934]
AlphaFold Q8BRG8
Predicted Effect possibly damaging
Transcript: ENSMUST00000064330
AA Change: S433P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000067667
Gene: ENSMUSG00000029782
AA Change: S433P

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: S498P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100056
Gene: ENSMUSG00000029782
AA Change: S498P

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: S539P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110810
Gene: ENSMUSG00000029782
AA Change: S539P

DomainStartEndE-ValueType
Pfam:CytochromB561_N 4 560 4.8e-209 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115160
AA Change: S540P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110813
Gene: ENSMUSG00000029782
AA Change: S540P

DomainStartEndE-ValueType
Pfam:CytochromB561_N 6 560 6.4e-159 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138823
AA Change: S540P

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000138292
Gene: ENSMUSG00000029782
AA Change: S540P

DomainStartEndE-ValueType
Pfam:CytochromB561_N 5 560 1.2e-205 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000151187
AA Change: S382P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138232
Gene: ENSMUSG00000029782
AA Change: S382P

DomainStartEndE-ValueType
Pfam:CytochromB561_N 1 403 1.5e-160 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202269
Predicted Effect probably damaging
Transcript: ENSMUST00000222934
AA Change: S382P

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp7 T A 7: 28,329,135 (GRCm39) probably benign Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Areg T A 5: 91,288,967 (GRCm39) I91K possibly damaging Het
Arf1 G A 11: 59,103,993 (GRCm39) R79C probably benign Het
Bbs2 A T 8: 94,819,054 (GRCm39) I105N probably benign Het
Ccdc158 A T 5: 92,756,337 (GRCm39) I1090N probably damaging Het
Ccdc90b T A 7: 92,223,823 (GRCm39) probably benign Het
Cep57 A T 9: 13,721,939 (GRCm39) F221I probably damaging Het
Ckap5 C T 2: 91,379,246 (GRCm39) A62V probably damaging Het
Cntn5 G A 9: 10,145,336 (GRCm39) R125C probably damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cxxc1 T A 18: 74,352,240 (GRCm39) D321E probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dnm1l A G 16: 16,139,550 (GRCm39) probably benign Het
Eif2d T A 1: 131,088,166 (GRCm39) S184T probably benign Het
Emcn T A 3: 137,124,747 (GRCm39) probably benign Het
Fry A T 5: 150,326,899 (GRCm39) probably benign Het
Gas2 T A 7: 51,537,786 (GRCm39) M37K probably damaging Het
Habp2 A G 19: 56,297,361 (GRCm39) S100G probably benign Het
Kcnj5 A G 9: 32,229,052 (GRCm39) C49R probably damaging Het
Lhx2 T A 2: 38,244,845 (GRCm39) D236E probably benign Het
Megf8 T A 7: 25,042,000 (GRCm39) S1273T probably benign Het
Mrps2 T C 2: 28,359,557 (GRCm39) I138T possibly damaging Het
Mta1 T C 12: 113,090,418 (GRCm39) S175P possibly damaging Het
Npat T A 9: 53,460,251 (GRCm39) Y66* probably null Het
Nup160 A G 2: 90,539,214 (GRCm39) R798G probably damaging Het
Or52n2c T C 7: 104,574,222 (GRCm39) I250V probably damaging Het
Or8b54 C A 9: 38,686,850 (GRCm39) Q100K probably damaging Het
Plxnc1 C T 10: 94,706,893 (GRCm39) G548E probably benign Het
Radil A G 5: 142,529,529 (GRCm39) S56P probably damaging Het
Rpgrip1l A T 8: 91,959,489 (GRCm39) M1137K probably benign Het
Serpina1c T G 12: 103,863,487 (GRCm39) M238L probably benign Het
Tbc1d14 A G 5: 36,728,863 (GRCm39) S168P probably damaging Het
Utrn A G 10: 12,312,135 (GRCm39) Y607H probably damaging Het
Vipr1 A G 9: 121,494,255 (GRCm39) I279V probably benign Het
Vmn2r67 T G 7: 84,805,008 (GRCm39) N35H probably benign Het
Xirp2 C T 2: 67,344,356 (GRCm39) T2199I probably benign Het
Zfp423 A G 8: 88,509,883 (GRCm39) S86P probably damaging Het
Zfp831 A G 2: 174,489,994 (GRCm39) K1254E possibly damaging Het
Zfp873 T A 10: 81,894,252 (GRCm39) M1K 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
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
R8542: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
Posted On 2015-04-16