Incidental Mutation 'R7671:Tram1'
ID 592137
Institutional Source Beutler Lab
Gene Symbol Tram1
Ensembl Gene ENSMUSG00000025935
Gene Name translocating chain-associating membrane protein 1
Synonyms TRAMP, 1810049E02Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.628) question?
Stock # R7671 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 13564698-13589910 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 13589644 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 27 (V27F)
Ref Sequence ENSEMBL: ENSMUSP00000027068 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027068] [ENSMUST00000188377]
AlphaFold Q91V04
Predicted Effect probably damaging
Transcript: ENSMUST00000027068
AA Change: V27F

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935
AA Change: V27F

DomainStartEndE-ValueType
Pfam:TRAM1 47 115 6.1e-24 PFAM
TLC 117 326 2.36e-54 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188377
AA Change: V27F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140499
Gene: ENSMUSG00000025935
AA Change: V27F

DomainStartEndE-ValueType
Blast:TLC 9 58 5e-24 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610009O20Rik T A 18: 38,259,925 I394N probably damaging Het
4930435E12Rik C T 16: 38,828,091 D219N possibly damaging Het
4932438A13Rik T C 3: 36,943,231 F1146L probably damaging Het
4933406M09Rik T C 1: 134,390,062 C191R probably benign Het
Akap13 C A 7: 75,569,900 T17K probably damaging Het
Ankrd29 T A 18: 12,260,986 K257I probably damaging Het
Bicc1 A G 10: 70,957,167 L219P probably benign Het
Boc C T 16: 44,491,849 V617M Het
Ccl8 A G 11: 82,115,207 probably benign Het
Col18a1 A G 10: 77,085,383 L261P unknown Het
Col5a3 T A 9: 20,775,086 probably null Het
Cryba4 A C 5: 112,248,173 probably null Het
Csf2rb A G 15: 78,338,930 Y114C probably damaging Het
Ctif T C 18: 75,472,016 D484G probably damaging Het
Ctnnal1 A G 4: 56,837,848 F261L probably damaging Het
Defb22 A T 2: 152,486,030 N78K unknown Het
Efr3a G A 15: 65,837,434 probably null Het
Elp4 G T 2: 105,904,481 A3E probably damaging Het
Emilin2 A G 17: 71,273,910 V607A probably benign Het
Epsti1 A G 14: 77,904,490 Y2C probably damaging Het
Fam81b A C 13: 76,271,293 L46R probably damaging Het
Fam81b G T 13: 76,271,294 L46I possibly damaging Het
Fbxo15 T A 18: 84,964,153 H288Q probably damaging Het
Gabrg1 T A 5: 70,815,980 N77I probably damaging Het
Ganab A G 19: 8,912,852 Y715C possibly damaging Het
Hist3h2ba T C 11: 58,949,276 S113P possibly damaging Het
Iqgap2 T C 13: 95,628,119 D1539G probably damaging Het
Kcp T C 6: 29,496,517 N633S probably benign Het
Krt6a C A 15: 101,690,543 S529I unknown Het
Leo1 A G 9: 75,445,562 H129R probably benign Het
Lmf1 G A 17: 25,579,349 V55M possibly damaging Het
Mcm9 A G 10: 53,537,569 S472P probably benign Het
Med27 T A 2: 29,377,938 V33D Het
Mup15 C T 4: 61,438,289 E80K probably benign Het
Myo18a G A 11: 77,859,420 R199H Het
Nebl T A 2: 17,390,916 R558* probably null Het
Olfr1121 A G 2: 87,372,269 T246A probably damaging Het
Olfr1252 A T 2: 89,721,259 I284K probably damaging Het
Olfr1329 A T 4: 118,916,986 H160Q probably benign Het
Olfr506 T C 7: 108,612,991 I228T probably damaging Het
Olfr740 G T 14: 50,453,885 V278L probably benign Het
Olfr815 T C 10: 129,902,353 D119G probably damaging Het
Olfr890 A T 9: 38,143,440 M97L probably benign Het
Pde11a A T 2: 76,215,353 F376I possibly damaging Het
Prima1 A T 12: 103,235,661 C52S probably damaging Het
Pxn G A 5: 115,548,547 R366H not run Het
Sgce T C 6: 4,691,564 Y337C probably damaging Het
Slc25a10 T A 11: 120,495,460 M130K probably benign Het
Slc29a2 A T 19: 5,024,262 N5I probably benign Het
Slc35a1 A T 4: 34,673,875 H150Q Het
Slc5a4a T A 10: 76,147,550 V7D unknown Het
Stk17b T A 1: 53,766,000 D134V probably damaging Het
Thbs3 T A 3: 89,216,707 S36T probably benign Het
Thsd4 A G 9: 60,428,174 S152P probably benign Het
Tmem67 G T 4: 12,063,698 H422N probably benign Het
Trim14 A G 4: 46,507,238 V326A possibly damaging Het
Other mutations in Tram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Tram1 APN 1 13579449 critical splice donor site probably null
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
R7362:Tram1 UTSW 1 13589608 missense probably benign 0.04
R7587:Tram1 UTSW 1 13579547 missense probably damaging 0.99
R7988:Tram1 UTSW 1 13569975 missense probably benign 0.04
R9047:Tram1 UTSW 1 13569606 missense probably benign
R9749:Tram1 UTSW 1 13570014 missense possibly damaging 0.95
RF015:Tram1 UTSW 1 13579742 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGGTCCCTGTTAGTCATC -3'
(R):5'- TGAACCATTCCCAGGAAGC -3'

Sequencing Primer
(F):5'- GGCTGCCACGTAACCCTTC -3'
(R):5'- ATTCCCAGGAAGCTCGCG -3'
Posted On 2019-11-12