Incidental Mutation 'IGL02947:Tmem53'
ID364772
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem53
Ensembl Gene ENSMUSG00000048772
Gene Nametransmembrane protein 53
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock #IGL02947
Quality Score
Status
Chromosome4
Chromosomal Location117251951-117268582 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 117268088 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 111 (Q111*)
Ref Sequence ENSEMBL: ENSMUSP00000121458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030439] [ENSMUST00000062824] [ENSMUST00000094853] [ENSMUST00000102690] [ENSMUST00000106433] [ENSMUST00000106434] [ENSMUST00000125943] [ENSMUST00000221654]
Predicted Effect probably benign
Transcript: ENSMUST00000030439
SMART Domains Protein: ENSMUSP00000030439
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
Pfam:RNF220 217 339 3.5e-38 PFAM
Pfam:RNF220 325 444 4.9e-51 PFAM
RING 514 552 1.62e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000062824
AA Change: Q126*
SMART Domains Protein: ENSMUSP00000061523
Gene: ENSMUSG00000048772
AA Change: Q126*

DomainStartEndE-ValueType
Pfam:DUF829 34 270 4.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000094853
SMART Domains Protein: ENSMUSP00000092449
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
low complexity region 176 187 N/A INTRINSIC
RING 301 339 1.62e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102690
SMART Domains Protein: ENSMUSP00000099751
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
low complexity region 68 79 N/A INTRINSIC
RING 193 231 1.62e-1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000106433
AA Change: Q111*
SMART Domains Protein: ENSMUSP00000102041
Gene: ENSMUSG00000048772
AA Change: Q111*

DomainStartEndE-ValueType
Pfam:DUF829 19 255 3.4e-62 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000106434
AA Change: Q133*
SMART Domains Protein: ENSMUSP00000102042
Gene: ENSMUSG00000048772
AA Change: Q133*

DomainStartEndE-ValueType
Pfam:DUF829 41 277 1.3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000125943
AA Change: Q111*
SMART Domains Protein: ENSMUSP00000121458
Gene: ENSMUSG00000048772
AA Change: Q111*

DomainStartEndE-ValueType
Pfam:DUF829 19 252 5.3e-61 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128122
SMART Domains Protein: ENSMUSP00000114642
Gene: ENSMUSG00000028677

DomainStartEndE-ValueType
low complexity region 94 105 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154449
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221157
Predicted Effect probably benign
Transcript: ENSMUST00000221654
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223371
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001L19Rik T A 13: 68,611,193 F95L probably benign Het
Aasdh A G 5: 76,902,110 V13A probably benign Het
Atp8b5 T A 4: 43,305,774 I106K possibly damaging Het
Cdh15 T C 8: 122,865,372 S633P probably benign Het
Celsr3 A G 9: 108,845,935 T228A probably benign Het
Chrng A G 1: 87,209,884 probably null Het
Coprs T C 8: 13,885,782 E79G probably damaging Het
Cpb2 A C 14: 75,283,318 Y391S probably damaging Het
Cyp2j8 A T 4: 96,470,578 I368N probably damaging Het
Ddah1 T C 3: 145,759,087 F76L probably benign Het
Eif2ak4 A G 2: 118,431,033 T573A probably benign Het
Exoc6b T A 6: 84,858,429 M375L probably benign Het
Fasn T C 11: 120,815,676 E994G probably damaging Het
Fem1a T A 17: 56,258,640 C578S probably benign Het
Garnl3 A G 2: 33,046,594 S188P probably damaging Het
Gpn3 T C 5: 122,378,488 V60A possibly damaging Het
Hnrnpr A G 4: 136,316,379 D59G probably damaging Het
Hydin A T 8: 110,418,462 E815V probably damaging Het
Itga9 C T 9: 118,658,533 T228M probably damaging Het
Kpna7 T C 5: 144,994,074 I320M probably damaging Het
Lnpep T C 17: 17,570,972 T437A probably damaging Het
Ltf C T 9: 111,038,947 T48I probably benign Het
Masp1 T G 16: 23,494,726 D153A probably damaging Het
Mcpt9 T A 14: 56,026,916 R241* probably null Het
Msantd4 T A 9: 4,384,787 S171T probably damaging Het
Nos1 G A 5: 117,943,317 V1229M probably damaging Het
Npc1l1 A G 11: 6,229,246 S55P probably benign Het
Oc90 T C 15: 65,888,134 K212R probably benign Het
Olfr1095 C T 2: 86,850,786 R304K probably benign Het
Olfr446 A G 6: 42,927,896 I222V probably benign Het
Olfr771 C A 10: 129,160,570 C138F probably damaging Het
Prr12 T A 7: 45,048,556 Q645L unknown Het
Psmd9 A G 5: 123,246,215 I145V probably benign Het
Rbks T C 5: 31,660,063 I121V probably benign Het
Rnase2b A T 14: 51,162,807 Y115F probably damaging Het
Sarnp A G 10: 128,839,854 E78G probably benign Het
Sltm A G 9: 70,591,664 S1007G probably benign Het
Spata31d1c T A 13: 65,034,945 Y100* probably null Het
Srrm2 T C 17: 23,810,746 S222P probably benign Het
Sult3a1 G A 10: 33,864,050 R35Q possibly damaging Het
Tfap4 T C 16: 4,551,360 D132G probably damaging Het
Togaram1 T A 12: 65,021,500 V1709D probably damaging Het
Trpm3 A T 19: 22,901,119 D628V probably damaging Het
Ttn T A 2: 76,714,494 K31009* probably null Het
Vldlr A G 19: 27,239,720 I58V probably benign Het
Vmn1r4 T C 6: 56,957,246 F245S probably benign Het
Vrtn T A 12: 84,648,484 S3T probably damaging Het
Vwa7 A G 17: 35,023,500 probably null Het
Wrnip1 T A 13: 32,822,070 Y632N probably damaging Het
Other mutations in Tmem53
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1513:Tmem53 UTSW 4 117265893 missense probably damaging 1.00
R4422:Tmem53 UTSW 4 117265952 missense probably damaging 1.00
R5173:Tmem53 UTSW 4 117265711 intron probably benign
R5729:Tmem53 UTSW 4 117268472 missense probably damaging 1.00
R6467:Tmem53 UTSW 4 117268428 missense possibly damaging 0.58
R6807:Tmem53 UTSW 4 117268331 missense probably benign 0.15
R6980:Tmem53 UTSW 4 117268508 missense probably damaging 1.00
R7256:Tmem53 UTSW 4 117252040 splice site probably null
Posted On2015-12-18