Incidental Mutation 'IGL01293:Tram1l1'
ID 72983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tram1l1
Ensembl Gene ENSMUSG00000044528
Gene Name translocation associated membrane protein 1-like 1
Synonyms A830091N21Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # IGL01293
Quality Score
Status
Chromosome 3
Chromosomal Location 124114686-124116909 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 124115788 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 316 (V316A)
Ref Sequence ENSEMBL: ENSMUSP00000062635 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058994]
AlphaFold Q8QZR0
Predicted Effect probably benign
Transcript: ENSMUST00000058994
AA Change: V316A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000062635
Gene: ENSMUSG00000044528
AA Change: V316A

DomainStartEndE-ValueType
Pfam:TRAM1 47 114 4.2e-21 PFAM
TLC 116 324 1.73e-47 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196150
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,190,226 (GRCm39) V25A probably benign Het
Aadacl4fm5 G T 4: 144,504,159 (GRCm39) H331N probably benign Het
Aagab T C 9: 63,543,751 (GRCm39) V235A probably benign Het
Ash1l T C 3: 88,890,836 (GRCm39) V905A probably benign Het
Atrx A G X: 104,919,801 (GRCm39) S641P probably benign Het
Bnc1 T C 7: 81,624,237 (GRCm39) E330G probably damaging Het
Cenpq A T 17: 41,244,067 (GRCm39) S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 (GRCm39) M1K probably null Het
Cul2 A G 18: 3,419,426 (GRCm39) K196E probably damaging Het
Cyp2d10 A T 15: 82,287,210 (GRCm39) V471E possibly damaging Het
Efhc2 T A X: 17,073,934 (GRCm39) I469L probably benign Het
Fhod3 C T 18: 25,153,709 (GRCm39) probably benign Het
Gm1968 A G 16: 29,777,632 (GRCm39) noncoding transcript Het
Hpdl T A 4: 116,678,141 (GRCm39) T107S possibly damaging Het
Il1rl1 G A 1: 40,485,376 (GRCm39) G276D possibly damaging Het
Irgq A G 7: 24,233,149 (GRCm39) D330G probably damaging Het
Kdm4b A G 17: 56,660,019 (GRCm39) D62G probably benign Het
Lama2 T C 10: 27,107,632 (GRCm39) T793A probably benign Het
Lrrk2 T C 15: 91,610,340 (GRCm39) F691L probably benign Het
Macf1 C T 4: 123,365,104 (GRCm39) G1654E probably benign Het
Mgat4c A T 10: 102,224,086 (GRCm39) Y100F probably benign Het
Ncapg A G 5: 45,839,196 (GRCm39) N532S probably benign Het
Nfkb1 T C 3: 135,296,600 (GRCm39) D782G probably damaging Het
Nthl1 G T 17: 24,857,683 (GRCm39) C294F probably damaging Het
Obp2b A G 2: 25,627,719 (GRCm39) H45R probably benign Het
Olfm1 A G 2: 28,104,715 (GRCm39) E156G probably damaging Het
Or14j2 A G 17: 37,886,308 (GRCm39) I2T probably benign Het
Or7g29 C A 9: 19,286,632 (GRCm39) A182S probably benign Het
Otud6b A G 4: 14,822,682 (GRCm39) probably benign Het
Patl2 T C 2: 121,954,291 (GRCm39) T427A probably benign Het
Pdzd8 T A 19: 59,288,218 (GRCm39) R1061W probably damaging Het
Plk3 A T 4: 116,990,194 (GRCm39) L137* probably null Het
Rps6ka6 T C X: 110,360,059 (GRCm39) probably benign Het
Shank1 T C 7: 44,003,660 (GRCm39) V1784A possibly damaging Het
Smc1b A T 15: 85,016,099 (GRCm39) S14T probably damaging Het
Sox4 C A 13: 29,136,664 (GRCm39) R114L probably damaging Het
Speg C T 1: 75,364,746 (GRCm39) R221W probably damaging Het
Virma G T 4: 11,521,114 (GRCm39) K840N probably damaging Het
Vmn1r49 A T 6: 90,049,394 (GRCm39) S203T probably damaging Het
Wdr1 T C 5: 38,686,886 (GRCm39) T293A probably benign Het
Xirp2 C T 2: 67,345,528 (GRCm39) P2590S possibly damaging Het
Zfp106 T C 2: 120,365,516 (GRCm39) Y297C possibly damaging Het
Zfp128 A G 7: 12,625,351 (GRCm39) *573W probably null Het
Zfp575 G A 7: 24,285,182 (GRCm39) P153L probably damaging Het
Other mutations in Tram1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02385:Tram1l1 APN 3 124,115,707 (GRCm39) missense probably benign 0.25
IGL03212:Tram1l1 APN 3 124,115,563 (GRCm39) missense possibly damaging 0.89
R1440:Tram1l1 UTSW 3 124,115,580 (GRCm39) nonsense probably null
R1929:Tram1l1 UTSW 3 124,115,635 (GRCm39) missense probably damaging 1.00
R2007:Tram1l1 UTSW 3 124,115,488 (GRCm39) missense possibly damaging 0.89
R4623:Tram1l1 UTSW 3 124,115,509 (GRCm39) missense possibly damaging 0.47
R5031:Tram1l1 UTSW 3 124,115,293 (GRCm39) nonsense probably null
R5091:Tram1l1 UTSW 3 124,115,400 (GRCm39) missense possibly damaging 0.69
R6142:Tram1l1 UTSW 3 124,115,092 (GRCm39) missense probably damaging 1.00
R7469:Tram1l1 UTSW 3 124,114,889 (GRCm39) missense probably benign 0.02
R7565:Tram1l1 UTSW 3 124,115,556 (GRCm39) missense probably damaging 0.99
R7686:Tram1l1 UTSW 3 124,114,959 (GRCm39) missense probably benign 0.07
R7841:Tram1l1 UTSW 3 124,115,354 (GRCm39) missense probably damaging 1.00
R7841:Tram1l1 UTSW 3 124,115,353 (GRCm39) missense probably damaging 1.00
R8139:Tram1l1 UTSW 3 124,115,436 (GRCm39) missense probably benign 0.10
R8174:Tram1l1 UTSW 3 124,115,911 (GRCm39) missense probably benign 0.00
R9194:Tram1l1 UTSW 3 124,115,137 (GRCm39) missense possibly damaging 0.60
R9360:Tram1l1 UTSW 3 124,115,899 (GRCm39) missense probably damaging 1.00
X0062:Tram1l1 UTSW 3 124,115,743 (GRCm39) missense probably damaging 1.00
Posted On 2013-10-07