Incidental Mutation 'IGL00793:Tmem57'
ID14500
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem57
Ensembl Gene ENSMUSG00000028826
Gene Nametransmembrane protein 57
Synonyms1110007C24Rik, C61, 9230118A01Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.646) question?
Stock #IGL00793
Quality Score
Status
Chromosome4
Chromosomal Location134802759-134853345 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 134828206 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 319 (S319P)
Ref Sequence ENSEMBL: ENSMUSP00000030628 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030628] [ENSMUST00000137707] [ENSMUST00000148595]
Predicted Effect probably damaging
Transcript: ENSMUST00000030628
AA Change: S319P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030628
Gene: ENSMUSG00000028826
AA Change: S319P

DomainStartEndE-ValueType
Pfam:Macoilin 2 662 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137707
SMART Domains Protein: ENSMUSP00000124477
Gene: ENSMUSG00000028826

DomainStartEndE-ValueType
Pfam:Macoilin 2 157 2.1e-112 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148595
SMART Domains Protein: ENSMUSP00000125440
Gene: ENSMUSG00000028826

DomainStartEndE-ValueType
Pfam:Macoilin 2 78 7e-48 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,397,406 D236G probably damaging Het
5031410I06Rik T C 5: 26,104,155 R50G probably damaging Het
Adam32 A T 8: 24,837,830 probably benign Het
Adm A G 7: 110,628,581 Y52C probably damaging Het
Aff4 A G 11: 53,411,990 T1097A probably damaging Het
Ccne1 A C 7: 38,106,301 V50G probably benign Het
Copb2 A G 9: 98,585,004 T636A probably benign Het
Cxadr C A 16: 78,334,227 Y210* probably null Het
Dnajc17 T C 2: 119,180,960 E163G probably benign Het
Dnmt3b T A 2: 153,672,502 M405K possibly damaging Het
Enpp7 A T 11: 118,990,545 N172I probably damaging Het
G2e3 T A 12: 51,367,762 S340T probably benign Het
Kat2b A G 17: 53,665,824 N722S probably benign Het
Kcnh5 C A 12: 75,114,346 V263F probably damaging Het
Ldlrad1 A G 4: 107,217,889 D211G probably damaging Het
Lrp1 A G 10: 127,542,205 V4082A possibly damaging Het
Mycbp2 A T 14: 103,126,753 V4370D possibly damaging Het
Npsr1 G T 9: 24,254,693 R125L probably damaging Het
Osbpl9 T C 4: 109,087,431 I116V probably damaging Het
Parp4 G T 14: 56,602,877 A580S possibly damaging Het
Pfkm T C 15: 98,125,594 V391A probably benign Het
Psen1 T A 12: 83,723,018 S170T probably damaging Het
Rsbn1l C T 5: 20,896,155 V796I probably benign Het
Slc39a8 A G 3: 135,884,733 I396V probably benign Het
Spag16 T C 1: 70,299,650 C436R probably damaging Het
Stpg1 A G 4: 135,506,407 probably benign Het
Tmem86b A G 7: 4,628,757 probably benign Het
Trf A G 9: 103,226,143 probably benign Het
Trim61 A T 8: 65,014,091 Y173N possibly damaging Het
Wrap73 T C 4: 154,152,639 S228P probably damaging Het
Zfc3h1 T C 10: 115,416,874 V1364A probably benign Het
Other mutations in Tmem57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Tmem57 APN 4 134833297 missense probably damaging 0.97
IGL02249:Tmem57 APN 4 134828312 missense possibly damaging 0.50
IGL02850:Tmem57 APN 4 134828386 missense probably benign 0.12
subtle UTSW 4 134828299 missense probably damaging 1.00
R0400:Tmem57 UTSW 4 134828116 missense probably benign 0.25
R0548:Tmem57 UTSW 4 134806660 missense probably damaging 1.00
R0589:Tmem57 UTSW 4 134828217 missense probably benign 0.30
R1536:Tmem57 UTSW 4 134804507 missense probably damaging 1.00
R2063:Tmem57 UTSW 4 134828279 missense possibly damaging 0.95
R2151:Tmem57 UTSW 4 134811223 missense probably benign 0.00
R2509:Tmem57 UTSW 4 134804388 missense probably damaging 1.00
R2510:Tmem57 UTSW 4 134804388 missense probably damaging 1.00
R2511:Tmem57 UTSW 4 134804388 missense probably damaging 1.00
R3806:Tmem57 UTSW 4 134830580 missense probably benign 0.00
R3946:Tmem57 UTSW 4 134804481 missense probably damaging 1.00
R4994:Tmem57 UTSW 4 134828299 missense probably damaging 1.00
R4999:Tmem57 UTSW 4 134828133 missense probably benign 0.23
R5169:Tmem57 UTSW 4 134828463 missense probably benign 0.23
R5310:Tmem57 UTSW 4 134837019 intron probably benign
R5443:Tmem57 UTSW 4 134833308 nonsense probably null
R5554:Tmem57 UTSW 4 134828134 missense probably benign
R5712:Tmem57 UTSW 4 134828058 missense probably benign 0.06
R6627:Tmem57 UTSW 4 134836343 missense probably damaging 0.98
R7100:Tmem57 UTSW 4 134806660 missense probably damaging 1.00
R7448:Tmem57 UTSW 4 134828279 missense possibly damaging 0.95
R8059:Tmem57 UTSW 4 134828048 nonsense probably null
R8300:Tmem57 UTSW 4 134828451 missense probably benign
X0062:Tmem57 UTSW 4 134836347 missense probably damaging 1.00
Posted On2012-12-06