Incidental Mutation 'IGL01021:Usp6nl'
ID53461
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? Probably non essential (E-score: 0.092) question?
Stock #IGL01021
Quality Score
Status
Chromosome2
Chromosomal Location6322667-6446390 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6424387 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 220 (M220K)
Ref Sequence ENSEMBL: ENSMUSP00000110587 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042503] [ENSMUST00000114937]
Predicted Effect probably damaging
Transcript: ENSMUST00000042503
AA Change: M243K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: M243K

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 probably damaging
Transcript: ENSMUST00000114937
AA Change: M220K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: M220K

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: ENSMUST00000132391
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533L02Rik T C 7: 125,318,676 V80A unknown Het
Adam28 A G 14: 68,642,114 S162P probably benign Het
Adamts14 G T 10: 61,225,373 S426Y probably damaging Het
Ankrd24 A G 10: 81,635,161 probably null Het
B3galt5 C A 16: 96,315,723 H185Q probably benign Het
Bod1l A G 5: 41,838,173 probably benign Het
Ddx46 T A 13: 55,666,332 Y700* probably null Het
Dph7 T G 2: 24,971,923 probably null Het
Fcho1 A T 8: 71,713,523 Y354* probably null Het
Fnbp4 A G 2: 90,777,669 M912V probably benign Het
Fpgt T A 3: 155,091,492 E42V possibly damaging Het
Frmd3 A G 4: 74,074,120 I75V possibly damaging Het
Gm10264 G A 12: 88,329,272 G7R unknown Het
Gm3278 G T 14: 4,895,222 V159L possibly damaging Het
Gmds T C 13: 32,127,030 I205V possibly damaging Het
Gprin1 T A 13: 54,740,369 S31C probably damaging Het
Igkv4-68 T C 6: 69,304,881 E102G probably damaging Het
Itga1 T A 13: 114,997,000 Y458F probably benign Het
Kif20b T C 19: 34,938,260 V479A possibly damaging Het
Megf8 T A 7: 25,338,374 W772R probably benign Het
Muc6 T A 7: 141,637,162 I2533F possibly damaging Het
Npas3 T C 12: 54,003,560 S258P probably damaging Het
Padi3 T C 4: 140,796,334 probably benign Het
Pmfbp1 G T 8: 109,537,993 R897L possibly damaging Het
Rims1 A T 1: 22,486,620 W407R probably damaging Het
Scnn1b G T 7: 121,918,036 D632Y probably damaging Het
Tas2r123 G A 6: 132,847,406 A89T probably benign Het
Tbk1 T C 10: 121,551,272 E706G probably benign Het
Thra A G 11: 98,762,928 D195G possibly damaging Het
Tpp2 T A 1: 43,934,187 Y33* probably null Het
Vmn2r112 C T 17: 22,618,904 T782I probably damaging Het
Zbtb43 T C 2: 33,453,759 T485A probably benign Het
Zfat T C 15: 68,170,166 I840V possibly damaging Het
Other mutations in Usp6nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01603:Usp6nl APN 2 6423435 missense probably damaging 1.00
IGL01690:Usp6nl APN 2 6441068 missense probably benign 0.01
IGL01778:Usp6nl APN 2 6427570 missense possibly damaging 0.78
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
R7188:Usp6nl UTSW 2 6440519 missense probably benign 0.03
R7696:Usp6nl UTSW 2 6424323 missense probably damaging 1.00
R7973:Usp6nl UTSW 2 6408951 missense probably damaging 1.00
R8223:Usp6nl UTSW 2 6430516 missense probably damaging 1.00
R8321:Usp6nl UTSW 2 6391089 missense possibly damaging 0.92
R8384:Usp6nl UTSW 2 6427793 missense possibly damaging 0.85
Posted On2013-06-28