Incidental Mutation 'IGL01998:Triml1'
ID182956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Triml1
Ensembl Gene ENSMUSG00000031651
Gene Nametripartite motif family-like 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL01998
Quality Score
Status
Chromosome8
Chromosomal Location43129807-43141486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 43141313 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 27 (D27G)
Ref Sequence ENSEMBL: ENSMUSP00000050267 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059692]
Predicted Effect probably damaging
Transcript: ENSMUST00000059692
AA Change: D27G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050267
Gene: ENSMUSG00000031651
AA Change: D27G

DomainStartEndE-ValueType
RING 22 62 1.14e-8 SMART
coiled coil region 196 235 N/A INTRINSIC
PRY 291 343 4.64e-23 SMART
Pfam:SPRY 346 462 6.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211446
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211541
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a tripartite motif family protein with similarities to E3 ubiquitin-protein ligases. While the function of the encoded protein has not been determined, the orthologous protein in mouse has been shown to bind ubiquitin-specific protease 5 and is involved in the blastocyst development stage. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4930435E12Rik A T 16: 38,828,224 D174E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Cab39l T A 14: 59,496,895 L21Q probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Ptges2 G A 2: 32,401,530 A310T possibly damaging Het
Rsl1d1 A G 16: 11,194,645 S306P possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Wwp2 C T 8: 107,549,521 R64C probably damaging Het
Zfp608 T C 18: 54,891,818 H1460R probably damaging Het
Other mutations in Triml1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Triml1 APN 8 43140961 splice site probably benign
IGL00920:Triml1 APN 8 43138682 missense probably damaging 1.00
IGL01319:Triml1 APN 8 43141397 utr 5 prime probably benign
IGL01323:Triml1 APN 8 43138563 splice site probably null
IGL02394:Triml1 APN 8 43138592 missense possibly damaging 0.57
R0359:Triml1 UTSW 8 43130505 missense probably damaging 1.00
R0400:Triml1 UTSW 8 43141040 missense probably benign 0.03
R1799:Triml1 UTSW 8 43130475 missense probably damaging 1.00
R2008:Triml1 UTSW 8 43130605 missense probably damaging 0.97
R2363:Triml1 UTSW 8 43141371 missense probably damaging 0.99
R2405:Triml1 UTSW 8 43130283 missense probably damaging 1.00
R5333:Triml1 UTSW 8 43130290 missense possibly damaging 0.82
R6093:Triml1 UTSW 8 43140718 missense probably benign 0.04
R6244:Triml1 UTSW 8 43138756 nonsense probably null
R6808:Triml1 UTSW 8 43141221 missense probably damaging 0.99
R6860:Triml1 UTSW 8 43130566 missense probably damaging 1.00
R7231:Triml1 UTSW 8 43136371 missense probably benign
R7826:Triml1 UTSW 8 43138766 missense possibly damaging 0.95
R8054:Triml1 UTSW 8 43130383 missense probably damaging 0.99
R8100:Triml1 UTSW 8 43138680 missense probably benign
R8234:Triml1 UTSW 8 43141248 missense probably benign 0.25
Z1088:Triml1 UTSW 8 43130398 missense probably damaging 1.00
Z1177:Triml1 UTSW 8 43140705 missense possibly damaging 0.73
Posted On2014-05-07