Incidental Mutation 'IGL02475:Tmem54'
ID294911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem54
Ensembl Gene ENSMUSG00000028786
Gene Nametransmembrane protein 54
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02475
Quality Score
Status
Chromosome4
Chromosomal Location129105548-129111626 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 129108280 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 40 (H40L)
Ref Sequence ENSEMBL: ENSMUSP00000123006 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030572] [ENSMUST00000030575] [ENSMUST00000030577] [ENSMUST00000095807] [ENSMUST00000106064] [ENSMUST00000116442] [ENSMUST00000116444] [ENSMUST00000125931] [ENSMUST00000139450] [ENSMUST00000148979] [ENSMUST00000149763] [ENSMUST00000164649]
Predicted Effect probably benign
Transcript: ENSMUST00000030572
SMART Domains Protein: ENSMUSP00000030572
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000030575
AA Change: H29L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030575
Gene: ENSMUSG00000028786
AA Change: H29L

DomainStartEndE-ValueType
Pfam:BCLP 18 71 2.8e-23 PFAM
Pfam:BCLP 69 180 1.4e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000030577
AA Change: H29L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030577
Gene: ENSMUSG00000028786
AA Change: H29L

DomainStartEndE-ValueType
Pfam:BCLP 18 200 5e-80 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095807
SMART Domains Protein: ENSMUSP00000093486
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000106064
AA Change: H29L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101679
Gene: ENSMUSG00000028786
AA Change: H29L

DomainStartEndE-ValueType
Pfam:BCLP 18 199 6.7e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000116442
SMART Domains Protein: ENSMUSP00000112143
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000116444
SMART Domains Protein: ENSMUSP00000112145
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000125931
SMART Domains Protein: ENSMUSP00000115031
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139450
SMART Domains Protein: ENSMUSP00000119178
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000148979
AA Change: H40L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123006
Gene: ENSMUSG00000028786
AA Change: H40L

DomainStartEndE-ValueType
Pfam:BCLP 29 106 3.2e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000149763
SMART Domains Protein: ENSMUSP00000115619
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164649
SMART Domains Protein: ENSMUSP00000129548
Gene: ENSMUSG00000028785

DomainStartEndE-ValueType
EFh 64 92 2.37e-3 SMART
EFh 100 128 3.1e-7 SMART
EFh 148 176 1.29e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J03Rik A T 5: 146,182,533 probably benign Het
5730409E04Rik A G 4: 126,611,949 E90G probably damaging Het
Abhd6 T A 14: 8,039,849 I27N probably damaging Het
Akap6 A T 12: 53,139,494 E1230D probably benign Het
Bcl2l12 A G 7: 44,996,893 V31A possibly damaging Het
Cep350 G A 1: 155,862,595 R2501W probably damaging Het
Cnga3 A G 1: 37,257,991 probably null Het
Crcp T C 5: 130,059,858 probably benign Het
Creb5 G A 6: 53,693,924 S304N probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnah5 A G 15: 28,219,150 D38G probably benign Het
Fam171a1 A G 2: 3,223,490 I293V possibly damaging Het
Fbxw10 T C 11: 62,857,735 V396A possibly damaging Het
Gm10340 G A 14: 3,140,482 probably benign Het
Gm20390 A G 11: 93,955,574 V16A probably damaging Het
Grik3 A G 4: 125,650,517 T344A probably benign Het
Itga7 T C 10: 128,934,089 F34S probably damaging Het
Musk T C 4: 58,353,936 probably benign Het
Neb G T 2: 52,292,819 N1038K probably damaging Het
Nf1 T C 11: 79,535,667 Y1636H probably damaging Het
Ngef G T 1: 87,479,150 T632K possibly damaging Het
Nts A G 10: 102,490,247 probably benign Het
Olfml2b A G 1: 170,682,174 D697G probably damaging Het
Olfr1031 T C 2: 85,992,032 F72L probably benign Het
Olfr1502 T A 19: 13,862,299 C169S probably damaging Het
Olfr205 A T 16: 59,328,725 H261Q probably benign Het
Otof T C 5: 30,376,682 R1428G probably damaging Het
Pgghg T C 7: 140,945,720 S479P Het
Rnaseh2b T A 14: 62,346,615 F37I probably damaging Het
Rtn4 T A 11: 29,733,801 I1031N probably damaging Het
Rxfp2 A G 5: 150,063,686 E344G probably benign Het
Scel A G 14: 103,537,008 R89G possibly damaging Het
Sirt4 T C 5: 115,482,996 E39G probably benign Het
Slc6a12 T A 6: 121,354,375 probably null Het
Snapc3 C A 4: 83,450,096 H277N probably benign Het
Susd2 A G 10: 75,637,499 probably null Het
Tagap1 T C 17: 6,956,427 Q290R probably benign Het
Tenm3 A T 8: 48,279,198 probably benign Het
Tnks1bp1 T C 2: 85,059,377 S683P probably damaging Het
Tnpo2 A G 8: 85,050,502 D547G probably benign Het
Tpd52l2 G A 2: 181,499,874 V17M probably benign Het
Trip11 T A 12: 101,895,683 T208S probably benign Het
Ttc17 C A 2: 94,364,376 D551Y probably damaging Het
Ttll12 A T 15: 83,587,101 W222R probably damaging Het
Xkr8 A T 4: 132,728,201 I287N probably damaging Het
Zdhhc2 G T 8: 40,473,025 G354C probably null Het
Zfp13 C T 17: 23,576,098 A493T probably benign Het
Other mutations in Tmem54
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02471:Tmem54 APN 4 129108318 missense probably benign 0.00
IGL03107:Tmem54 APN 4 129110912 missense probably damaging 1.00
R3804:Tmem54 UTSW 4 129108220 missense probably benign 0.01
R4156:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4157:Tmem54 UTSW 4 129110711 missense probably damaging 1.00
R4664:Tmem54 UTSW 4 129110911 missense possibly damaging 0.95
R4959:Tmem54 UTSW 4 129108280 missense probably damaging 1.00
R6699:Tmem54 UTSW 4 129111325 missense probably benign 0.07
R7037:Tmem54 UTSW 4 129110801 splice site probably null
Posted On2015-04-16