Incidental Mutation 'IGL01778:Usp6nl'
ID153749
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp6nl
Ensembl Gene ENSMUSG00000039046
Gene NameUSP6 N-terminal like
SynonymsTRE2NL
Accession Numbers

Genbank: NM_181399, NM_001080548; MGI: 2138893

Is this an essential gene? Possibly non essential (E-score: 0.296) question?
Stock #IGL01778
Quality Score
Status
Chromosome2
Chromosomal Location6322667-6446390 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 6427570 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 260 (T260A)
Ref Sequence ENSEMBL: ENSMUSP00000110587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042503] [ENSMUST00000114937]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042503
AA Change: T283A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: T283A

DomainStartEndE-ValueType
TBC 120 338 2.14e-78 SMART
low complexity region 486 499 N/A INTRINSIC
low complexity region 576 591 N/A INTRINSIC
low complexity region 594 614 N/A INTRINSIC
low complexity region 811 825 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000114937
AA Change: T260A

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: T260A

DomainStartEndE-ValueType
TBC 97 315 2.14e-78 SMART
low complexity region 463 476 N/A INTRINSIC
low complexity region 553 568 N/A INTRINSIC
low complexity region 571 591 N/A INTRINSIC
low complexity region 788 802 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126659
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150515
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actrt2 T C 4: 154,666,705 K325E probably benign Het
Arc C T 15: 74,672,355 M6I probably benign Het
Atp7b A T 8: 21,994,828 D1404E probably benign Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cdk5rap1 T A 2: 154,366,036 N156I probably damaging Het
Ctsa T C 2: 164,834,310 probably benign Het
Depdc1b T G 13: 108,362,327 N181K probably benign Het
Epg5 T C 18: 78,019,274 V1994A probably damaging Het
Epyc T A 10: 97,681,237 C312* probably null Het
Erv3 T A 2: 131,855,957 R161* probably null Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gfra3 T C 18: 34,691,591 T280A possibly damaging Het
Gldn A T 9: 54,334,492 probably null Het
Gm6768 T C 12: 119,262,496 noncoding transcript Het
Gtf3c4 G A 2: 28,835,088 R211C probably damaging Het
Hsh2d A G 8: 72,193,507 D16G probably damaging Het
Klk15 T A 7: 43,938,838 M190K probably damaging Het
Klri1 A G 6: 129,717,047 S26P possibly damaging Het
Krt78 T A 15: 101,950,967 D265V probably damaging Het
Lgr5 A C 10: 115,462,702 I355S probably damaging Het
Lig3 T A 11: 82,794,541 V595D probably damaging Het
Map2k6 A C 11: 110,512,869 probably benign Het
Mdm4 A G 1: 132,994,547 S286P probably benign Het
Olfr320 A G 11: 58,684,269 Y132C probably damaging Het
Pofut1 T A 2: 153,248,528 M114K probably damaging Het
Rdh13 C T 7: 4,430,389 probably null Het
Reg3g T A 6: 78,466,833 I131F probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc8a2 T A 7: 16,158,893 F827I probably damaging Het
Slfn9 A T 11: 82,987,374 C310S probably damaging Het
Sypl A G 12: 32,975,642 Y235C probably damaging Het
Trav7-4 A T 14: 53,461,641 T82S possibly damaging Het
Trim28 T A 7: 13,030,702 V782D probably damaging Het
Ttn G A 2: 76,744,898 T25217M probably damaging Het
Vmn2r54 A T 7: 12,632,082 N308K probably benign Het
Xdh T C 17: 73,900,280 E986G probably benign Het
Zfp770 T C 2: 114,196,238 D450G probably damaging Het
Zw10 T G 9: 49,069,615 S438R probably benign Het
Other mutations in Usp6nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Usp6nl APN 2 6424387 missense probably damaging 1.00
IGL01603:Usp6nl APN 2 6423435 missense probably damaging 1.00
IGL01690:Usp6nl APN 2 6441068 missense probably benign 0.01
IGL02799:Usp6nl APN 2 6427549 splice site probably benign
3-1:Usp6nl UTSW 2 6409017 splice site probably benign
R0060:Usp6nl UTSW 2 6440890 missense probably benign 0.17
R0544:Usp6nl UTSW 2 6421009 missense probably damaging 0.98
R0550:Usp6nl UTSW 2 6400323 splice site probably benign
R0701:Usp6nl UTSW 2 6415018 missense possibly damaging 0.75
R1396:Usp6nl UTSW 2 6426998 splice site probably null
R1967:Usp6nl UTSW 2 6441519 missense probably benign 0.01
R2120:Usp6nl UTSW 2 6440937 missense probably damaging 1.00
R2215:Usp6nl UTSW 2 6424339 missense probably damaging 1.00
R2366:Usp6nl UTSW 2 6440959 missense probably benign 0.00
R3737:Usp6nl UTSW 2 6440917 missense probably damaging 0.99
R4178:Usp6nl UTSW 2 6440976 missense probably benign 0.11
R4656:Usp6nl UTSW 2 6441162 missense probably damaging 1.00
R4970:Usp6nl UTSW 2 6420903 missense probably benign 0.05
R5112:Usp6nl UTSW 2 6420903 missense probably benign 0.05
R5621:Usp6nl UTSW 2 6440432 missense probably benign 0.40
R5642:Usp6nl UTSW 2 6430464 missense probably damaging 0.97
R5999:Usp6nl UTSW 2 6441339 missense probably damaging 1.00
R6931:Usp6nl UTSW 2 6430458 missense possibly damaging 0.55
Posted On2014-02-04