Incidental Mutation 'IGL03339:Tmem56'
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ID417163
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem56
Ensembl Gene ENSMUSG00000028132
Gene Nametransmembrane protein 56
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.079) question?
Stock #IGL03339
Quality Score
Status
Chromosome3
Chromosomal Location121201761-121283098 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to T at 121228840 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029777] [ENSMUST00000128909] [ENSMUST00000135818] [ENSMUST00000137234] [ENSMUST00000155309]
Predicted Effect probably benign
Transcript: ENSMUST00000029777
SMART Domains Protein: ENSMUSP00000029777
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128909
SMART Domains Protein: ENSMUSP00000119468
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135818
SMART Domains Protein: ENSMUSP00000114755
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 231 4.68e-26 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000137234
SMART Domains Protein: ENSMUSP00000122001
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:TRAM_LAG1_CLN8 61 138 7.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155309
SMART Domains Protein: ENSMUSP00000120821
Gene: ENSMUSG00000028132

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
TLC 57 259 1.5e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200402
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6820408C15Rik A G 2: 152,442,456 E323G probably damaging Het
A4gnt T C 9: 99,620,548 S254P probably damaging Het
Actn4 A G 7: 28,901,982 L447P probably damaging Het
Agbl2 C A 2: 90,797,563 S237R probably damaging Het
Apc G A 18: 34,298,474 D309N probably damaging Het
Arhgef3 A G 14: 27,401,857 M492V probably damaging Het
Atp10b T A 11: 43,230,615 M1035K probably null Het
Cfap69 T A 5: 5,586,436 probably benign Het
Ctf1 A G 7: 127,713,994 N24S probably benign Het
Cx3cr1 T A 9: 120,051,437 K300* probably null Het
Ddx25 A T 9: 35,542,003 Y484N probably damaging Het
Eif4g1 A G 16: 20,680,984 E506G possibly damaging Het
Ficd G T 5: 113,738,739 R325L probably benign Het
G6pc2 A G 2: 69,220,895 probably benign Het
Gm11168 C A 9: 3,004,767 P103T probably benign Het
Hbb-y A T 7: 103,852,769 H98Q probably damaging Het
Hmcn1 A G 1: 150,701,969 S2014P probably benign Het
Hoxc5 T C 15: 103,014,136 Y19H probably damaging Het
Igfbpl1 A G 4: 45,813,555 probably benign Het
Ighg2c A C 12: 113,287,994 V171G unknown Het
Kctd13 A G 7: 126,945,018 D296G probably benign Het
Mfsd2b A C 12: 4,874,335 M1R probably null Het
Nipbl A G 15: 8,350,876 S811P probably benign Het
Olfr118 G A 17: 37,672,557 C178Y possibly damaging Het
Olfr119 G T 17: 37,700,791 M40I probably damaging Het
Olfr1484 T G 19: 13,586,075 M257R probably damaging Het
Olfr569 G A 7: 102,887,782 R124C probably benign Het
Pcolce2 T C 9: 95,678,340 probably benign Het
Pik3c2a G T 7: 116,418,021 T167K possibly damaging Het
Ppp1r18 A G 17: 35,868,046 D271G probably benign Het
Rnf213 T C 11: 119,443,004 I3013T probably damaging Het
Rock1 A T 18: 10,097,493 M765K probably benign Het
Sec16a T C 2: 26,435,933 Y1244C probably benign Het
Taar7d T C 10: 24,027,306 C29R possibly damaging Het
Ttn A C 2: 76,741,920 F26210V probably damaging Het
Ube2b A T 11: 51,986,707 V145D probably damaging Het
Vmn1r219 T G 13: 23,163,410 S256R possibly damaging Het
Other mutations in Tmem56
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02606:Tmem56 APN 3 121228364 missense possibly damaging 0.94
R1295:Tmem56 UTSW 3 121207291 missense probably benign
R1296:Tmem56 UTSW 3 121207291 missense probably benign
R2040:Tmem56 UTSW 3 121231326 splice site probably benign
R2056:Tmem56 UTSW 3 121207421 missense probably benign 0.00
R4541:Tmem56 UTSW 3 121235235 start codon destroyed probably null 0.00
R6044:Tmem56 UTSW 3 121207369 missense probably damaging 0.97
R6261:Tmem56 UTSW 3 121235059 missense possibly damaging 0.86
R6916:Tmem56 UTSW 3 121207156 missense possibly damaging 0.94
R7640:Tmem56 UTSW 3 121235041 critical splice donor site probably null
R7911:Tmem56 UTSW 3 121228392 missense probably damaging 0.96
RF010:Tmem56 UTSW 3 121228884 missense probably benign 0.00
Z1177:Tmem56 UTSW 3 121211308 missense probably damaging 1.00
Posted On2016-08-02