Incidental Mutation 'IGL01154:Tram1'
ID50368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tram1
Ensembl Gene ENSMUSG00000025935
Gene Nametranslocating chain-associating membrane protein 1
SynonymsTRAMP, 1810049E02Rik
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.602) question?
Stock #IGL01154
Quality Score
Status
Chromosome1
Chromosomal Location13564698-13589910 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 13579449 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027068] [ENSMUST00000188377]
Predicted Effect probably null
Transcript: ENSMUST00000027068
SMART Domains Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935

DomainStartEndE-ValueType
Pfam:TRAM1 47 115 6.1e-24 PFAM
TLC 117 326 2.36e-54 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185447
Predicted Effect probably benign
Transcript: ENSMUST00000188377
SMART Domains Protein: ENSMUSP00000140499
Gene: ENSMUSG00000025935

DomainStartEndE-ValueType
Blast:TLC 9 58 5e-24 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a multi-pass transmembrane protein of the endoplasmic reticulum (ER). It is involved in the process of cotranslational translocation of secretory proteins into the ER. [provided by RefSeq, Dec 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Bpifa1 T A 2: 154,144,000 D78E probably benign Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Tram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03071:Tram1 APN 1 13579774 nonsense probably null
IGL03123:Tram1 APN 1 13589605 missense probably benign 0.01
R0764:Tram1 UTSW 1 13579709 missense probably damaging 1.00
R1229:Tram1 UTSW 1 13569552 missense probably damaging 0.98
R1775:Tram1 UTSW 1 13576456 unclassified probably benign
R3877:Tram1 UTSW 1 13569603 missense probably benign 0.01
R4077:Tram1 UTSW 1 13566375 missense probably benign
R4747:Tram1 UTSW 1 13589646 missense probably damaging 1.00
R5197:Tram1 UTSW 1 13571902 missense probably benign 0.19
R5213:Tram1 UTSW 1 13579742 missense probably damaging 1.00
R5224:Tram1 UTSW 1 13578125 missense probably benign 0.10
Posted On2013-06-21