Incidental Mutation 'RF015:Tram1'
ID 603452
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: 0.578) question?
Stock # RF015 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 13634922-13660134 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13649966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 86 (Y86C)
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: Y86C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027068
Gene: ENSMUSG00000025935
AA Change: Y86C

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
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.5%
  • 20x: 99.0%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430401F13Rik AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,824 (GRCm39) probably benign Het
5430401F13Rik AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG AAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,822 (GRCm39) probably benign Het
5430401F13Rik CAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG CAGAAAGGAAAAGGTGGCCAGCAAAAAAAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG 6: 131,529,819 (GRCm39) probably benign Het
Abcb4 GAA G 5: 8,946,594 (GRCm39) probably null Het
Agap1 T A 1: 89,561,985 (GRCm39) Y214* probably null Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Arid1a AGGC A 4: 133,480,142 (GRCm39) probably benign Het
Bco2 A G 9: 50,457,297 (GRCm39) F82L probably damaging Het
Bltp1 TTATTATTATTAT TTATTATTATTATTAGTATTATTATTAT 3: 37,104,897 (GRCm39) probably benign Het
Calhm1 TGGCTGTGGCTG TGGCTGTGGCTGGGGCTGTGGCTG 19: 47,129,695 (GRCm39) probably benign Het
Capn9 T C 8: 125,345,221 (GRCm39) F683L probably benign Het
Cep131 CTGTTGTT CTGTTGTTGTT 11: 119,963,794 (GRCm39) probably benign Het
Cfap251 GGAGGAGGAGGAG GGAGGAGGAGGAGGAG 5: 123,392,305 (GRCm39) probably benign Het
Cfap251 TCTCA T 5: 123,412,224 (GRCm39) probably benign Het
Cgnl1 AGCG AGCGGCG 9: 71,631,997 (GRCm39) probably benign Het
Chga AGC AGCGGC 12: 102,527,679 (GRCm39) probably benign Het
Cyb5r4 GACACA GACACAGTGCCCAAGGATGTGACATACACA 9: 86,922,485 (GRCm39) probably benign Het
Cyb5r4 CTGCCCAGGGA CTGCCCAGGGATGTGACAGACACATTGCCCAGGGA 9: 86,922,491 (GRCm39) probably benign Het
Cyria T A 12: 12,419,939 (GRCm39) S294R probably benign Het
Dnah10 G A 5: 124,895,141 (GRCm39) D3557N probably damaging Het
Dnmt1 GGAGCACAGTTCCTACCTCGTT GGAGCACAGTTCCTACCTCGTTTTGGGGGCTGAGCACAGTTCCTACCTCGTT 9: 20,821,420 (GRCm39) probably null Het
Dnmt1 ACAGTTCCTACCTCGTT ACAGTTCCTACCTCGTTTTGGGGGCGGAGCCCAGTTCCTACCTCGTT 9: 20,821,425 (GRCm39) probably null Het
Efhd2 CCGCCG CCGCCGACGCCG 4: 141,602,067 (GRCm39) probably benign Het
Exd2 AGCAGCCGCAGCC AGCAGCC 12: 80,522,691 (GRCm39) probably benign Het
Garin5a TGGGTCTGAGGGAGGA TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA 7: 44,149,946 (GRCm39) probably null Het
Gatad1 A T 5: 3,697,523 (GRCm39) C33S possibly damaging Het
H2-DMb1 A G 17: 34,374,476 (GRCm39) Y42C probably damaging Het
Hars2 G T 18: 36,918,998 (GRCm39) R86L probably damaging Het
Hsdl2 GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC 4: 59,610,640 (GRCm39) probably benign Het
Irag2 AGCACATTG AGCACATTGCGCACATTG 6: 145,119,509 (GRCm39) probably benign Het
Lce1m TGCCAC TGCCACTGCTGCGGCCAC 3: 92,925,455 (GRCm39) probably benign Het
Maml2 ACAGCAGCAGCAACAGCAGCAGCAGCAGCA ACAGCAACAGCAGCAGCAGCAGCA 9: 13,532,752 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,426 (GRCm39) probably benign Het
Mamld1 AGC AGCCGC X: 70,162,447 (GRCm39) probably benign Het
Mast4 GGACAAGCTGTGAGTTGGGGAACCCGGGAG GG 13: 102,875,755 (GRCm39) probably null Het
Mucl2 T A 15: 103,927,696 (GRCm39) N87I probably benign Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Nup214 T C 2: 31,924,718 (GRCm39) V1749A probably benign Het
Or52e5 A G 7: 104,719,255 (GRCm39) I194V probably damaging Het
Pcdhgb4 A T 18: 37,854,855 (GRCm39) N417Y probably damaging Het
Pclo G T 5: 14,565,283 (GRCm39) L16F unknown Het
Pik3c2g T A 6: 139,700,497 (GRCm39) N262K Het
Ppp1r13l ACAGGCACCCTGCTCCGGC AC 7: 19,102,467 (GRCm39) probably benign Het
Rfx4 CTCTCT CTCTCTCTCTCTCTCTTTCTCT 10: 84,694,353 (GRCm39) probably benign Het
Rnf41 C T 10: 128,271,279 (GRCm39) A63V probably benign Het
Sirt1 C T 10: 63,172,795 (GRCm39) A163T probably damaging Het
Six3 GCG GCGTCG 17: 85,928,798 (GRCm39) probably benign Het
Six4 TG T 12: 73,150,356 (GRCm39) probably null Het
Skor2 A G 18: 76,948,483 (GRCm39) E735G probably damaging Het
Slc26a8 TCTCTGGCTCTGGCTCTGGCTCTGGCTC TCTCTGGCTCTGGCTCTGGCTC 17: 28,857,315 (GRCm39) probably benign Het
Smco2 T TTCG 6: 146,754,161 (GRCm39) probably benign Het
Strada A G 11: 106,061,846 (GRCm39) I172T probably damaging Het
Syne1 T C 10: 5,252,248 (GRCm39) I2469V probably benign Het
Tcof1 C CTGCTGAGATGGGCACTTTCCCAGAGCTCCCCTTGGA 18: 60,966,656 (GRCm39) probably benign Het
Ttll7 T A 3: 146,685,413 (GRCm39) F882L probably benign Het
Usp2 TGTGACCTGTTCTTCACTTAC TGTGACCTGTTCTTCACTTACTCACGTGACCTGTTCTTCACTTAC 9: 44,000,406 (GRCm39) probably benign Het
Utp18 A G 11: 93,776,287 (GRCm39) L66P probably damaging Het
Wnt7a C T 6: 91,371,405 (GRCm39) E186K possibly damaging Het
Zfp384 AGGCCCAGGCCC AGGCCCAGGCCCCGGCCCAGGCCC 6: 125,013,444 (GRCm39) probably benign Het
Zgrf1 A G 3: 127,356,882 (GRCm39) I703V probably benign Het
Zpld2 T C 4: 133,920,338 (GRCm39) H609R probably benign Het
Other mutations in Tram1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Tram1 APN 1 13,649,673 (GRCm39) critical splice donor site probably null
IGL03071:Tram1 APN 1 13,649,998 (GRCm39) nonsense probably null
IGL03123:Tram1 APN 1 13,659,829 (GRCm39) missense probably benign 0.01
R0764:Tram1 UTSW 1 13,649,933 (GRCm39) missense probably damaging 1.00
R1229:Tram1 UTSW 1 13,639,776 (GRCm39) missense probably damaging 0.98
R1775:Tram1 UTSW 1 13,646,680 (GRCm39) unclassified probably benign
R3877:Tram1 UTSW 1 13,639,827 (GRCm39) missense probably benign 0.01
R4077:Tram1 UTSW 1 13,636,599 (GRCm39) missense probably benign
R4747:Tram1 UTSW 1 13,659,870 (GRCm39) missense probably damaging 1.00
R5197:Tram1 UTSW 1 13,642,126 (GRCm39) missense probably benign 0.19
R5213:Tram1 UTSW 1 13,649,966 (GRCm39) missense probably damaging 1.00
R5224:Tram1 UTSW 1 13,648,349 (GRCm39) missense probably benign 0.10
R7362:Tram1 UTSW 1 13,659,832 (GRCm39) missense probably benign 0.04
R7587:Tram1 UTSW 1 13,649,771 (GRCm39) missense probably damaging 0.99
R7671:Tram1 UTSW 1 13,659,868 (GRCm39) missense probably damaging 0.96
R7988:Tram1 UTSW 1 13,640,199 (GRCm39) missense probably benign 0.04
R9047:Tram1 UTSW 1 13,639,830 (GRCm39) missense probably benign
R9749:Tram1 UTSW 1 13,640,238 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- TTGGAGAAGTGCATCCGTCG -3'
(R):5'- GGGGATCTCTGTAGAACCTTTAC -3'

Sequencing Primer
(F):5'- AGAAGTGCATCCGTCGGTTAATTTTC -3'
(R):5'- AGAACCTTTACTGAGTTATTCACCTC -3'
Posted On 2019-12-04