Incidental Mutation 'R9194:Tram1l1'
ID 697850
Institutional Source Beutler Lab
Gene Symbol Tram1l1
Ensembl Gene ENSMUSG00000044528
Gene Name translocation associated membrane protein 1-like 1
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R9194 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 124320855-124324743 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124321488 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 99 (Y99C)
Ref Sequence ENSEMBL: ENSMUSP00000062635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058994]
AlphaFold Q8QZR0
Predicted Effect possibly damaging
Transcript: ENSMUST00000058994
AA Change: Y99C

PolyPhen 2 Score 0.600 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000062635
Gene: ENSMUSG00000044528
AA Change: Y99C

DomainStartEndE-ValueType
Pfam:TRAM1 47 114 4.2e-21 PFAM
TLC 116 324 1.73e-47 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,259,088 M1K probably null Het
Adra1b A T 11: 43,835,436 V218D probably damaging Het
Ank1 A G 8: 23,116,239 S1216G possibly damaging Het
Celsr1 G T 15: 86,033,085 S229* probably null Het
Cfap44 G T 16: 44,468,461 D1525Y probably damaging Het
Chd8 A T 14: 52,202,193 M2341K probably benign Het
Chst11 A G 10: 83,191,485 T249A probably damaging Het
Cttnbp2 A G 6: 18,434,851 V336A probably benign Het
Dennd3 T C 15: 73,547,304 L648P probably benign Het
Dgcr14 A T 16: 17,910,164 D79E probably damaging Het
Dhx16 T C 17: 35,889,281 V864A probably benign Het
Enpp3 G A 10: 24,799,194 H362Y possibly damaging Het
Fam83c T A 2: 155,829,379 Y712F probably damaging Het
Helz C T 11: 107,670,287 Q1392* probably null Het
Il18rap C T 1: 40,543,017 T366M probably benign Het
Iqch T C 9: 63,572,679 H143R probably benign Het
Itgb5 A G 16: 33,900,511 D315G probably damaging Het
Kcnmb2 A G 3: 32,182,025 K141R probably benign Het
Lrrc37a G A 11: 103,500,850 P1250S probably benign Het
Mcm5 T G 8: 75,110,334 V110G probably damaging Het
Med27 G A 2: 29,471,300 D163N probably damaging Het
Mms22l C A 4: 24,600,185 Y1129* probably null Het
Mov10l1 G A 15: 89,046,820 R1081H probably damaging Het
Mtpap C G 18: 4,380,833 N170K probably benign Het
Mtpap C T 18: 4,380,834 Q171* probably null Het
Myo6 T A 9: 80,246,554 F271I unknown Het
Ndst4 C T 3: 125,724,736 S354L probably benign Het
Nfatc1 C T 18: 80,708,043 A26T probably benign Het
Olfr867 C A 9: 20,055,247 C72F probably damaging Het
Piezo2 G C 18: 63,117,744 T428S probably benign Het
Prkch A G 12: 73,721,842 E462G probably damaging Het
Rbm20 A G 19: 53,834,700 Y576C probably damaging Het
Riok3 TTTCATT TTT 18: 12,149,585 probably null Het
Rpp40 C T 13: 35,896,915 D302N probably benign Het
Sash1 A G 10: 8,740,205 V631A probably damaging Het
Sstr2 A G 11: 113,624,377 T41A probably benign Het
Thsd7b T A 1: 129,915,634 V861E possibly damaging Het
Tomm70a A G 16: 57,152,707 K603E possibly damaging Het
Tpd52l2 T A 2: 181,499,890 M22K possibly damaging Het
Tpst1 T A 5: 130,102,019 L110Q possibly damaging Het
Ttc39b A G 4: 83,263,740 F81L possibly damaging Het
Ubr1 A G 2: 120,947,844 Y238H probably damaging Het
Vmn1r202 G T 13: 22,502,146 H34N possibly damaging Het
Vmn1r36 G A 6: 66,716,052 Q280* probably null Het
Xpnpep1 A T 19: 53,011,858 V187E possibly damaging Het
Zfp592 A G 7: 81,024,601 I438V probably benign Het
Other mutations in Tram1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Tram1l1 APN 3 124322139 missense probably benign 0.00
IGL02385:Tram1l1 APN 3 124322058 missense probably benign 0.25
IGL03212:Tram1l1 APN 3 124321914 missense possibly damaging 0.89
R1440:Tram1l1 UTSW 3 124321931 nonsense probably null
R1929:Tram1l1 UTSW 3 124321986 missense probably damaging 1.00
R2007:Tram1l1 UTSW 3 124321839 missense possibly damaging 0.89
R4623:Tram1l1 UTSW 3 124321860 missense possibly damaging 0.47
R5031:Tram1l1 UTSW 3 124321644 nonsense probably null
R5091:Tram1l1 UTSW 3 124321751 missense possibly damaging 0.69
R6142:Tram1l1 UTSW 3 124321443 missense probably damaging 1.00
R7469:Tram1l1 UTSW 3 124321240 missense probably benign 0.02
R7565:Tram1l1 UTSW 3 124321907 missense probably damaging 0.99
R7686:Tram1l1 UTSW 3 124321310 missense probably benign 0.07
R7841:Tram1l1 UTSW 3 124321704 missense probably damaging 1.00
R7841:Tram1l1 UTSW 3 124321705 missense probably damaging 1.00
R8139:Tram1l1 UTSW 3 124321787 missense probably benign 0.10
R8174:Tram1l1 UTSW 3 124322262 missense probably benign 0.00
R9360:Tram1l1 UTSW 3 124322250 missense probably damaging 1.00
X0062:Tram1l1 UTSW 3 124322094 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCACGAATTCATGGTGCAG -3'
(R):5'- GCTGAGACTTCCACAAGAGTG -3'

Sequencing Primer
(F):5'- ACCACGCGGATATGGTCTC -3'
(R):5'- CTTCCACAAGAGTGTAGGGTCTGAC -3'
Posted On 2022-02-07