Incidental Mutation 'R0701:Usp6nl'
ID 62993
Institutional Source Beutler Lab
Gene Symbol Usp6nl
Ensembl Gene ENSMUSG00000039046
Gene Name USP6 N-terminal like
Synonyms TRE2NL
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R0701 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 6327478-6451201 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6419829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 144 (E144G)
Ref Sequence ENSEMBL: ENSMUSP00000043178 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042503] [ENSMUST00000114937]
AlphaFold Q80XC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000042503
AA Change: E144G

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: E144G

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 benign
Transcript: ENSMUST00000114937
AA Change: E121G

PolyPhen 2 Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: E121G

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
Validation Efficiency
Allele List at MGI

All alleles(32) : Gene trapped(32)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Arhgef11 G T 3: 87,640,766 (GRCm39) A1308S probably benign Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably damaging Het
Other mutations in Usp6nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01021:Usp6nl APN 2 6,429,198 (GRCm39) missense probably damaging 1.00
IGL01603:Usp6nl APN 2 6,428,246 (GRCm39) missense probably damaging 1.00
IGL01690:Usp6nl APN 2 6,445,879 (GRCm39) missense probably benign 0.01
IGL01778:Usp6nl APN 2 6,432,381 (GRCm39) missense possibly damaging 0.78
IGL02799:Usp6nl APN 2 6,432,360 (GRCm39) splice site probably benign
3-1:Usp6nl UTSW 2 6,413,828 (GRCm39) splice site probably benign
R0060:Usp6nl UTSW 2 6,445,701 (GRCm39) missense probably benign 0.17
R0544:Usp6nl UTSW 2 6,425,820 (GRCm39) missense probably damaging 0.98
R0550:Usp6nl UTSW 2 6,405,134 (GRCm39) splice site probably benign
R1396:Usp6nl UTSW 2 6,431,809 (GRCm39) splice site probably null
R1967:Usp6nl UTSW 2 6,446,330 (GRCm39) missense probably benign 0.01
R2120:Usp6nl UTSW 2 6,445,748 (GRCm39) missense probably damaging 1.00
R2215:Usp6nl UTSW 2 6,429,150 (GRCm39) missense probably damaging 1.00
R2366:Usp6nl UTSW 2 6,445,770 (GRCm39) missense probably benign 0.00
R3737:Usp6nl UTSW 2 6,445,728 (GRCm39) missense probably damaging 0.99
R4178:Usp6nl UTSW 2 6,445,787 (GRCm39) missense probably benign 0.11
R4656:Usp6nl UTSW 2 6,445,973 (GRCm39) missense probably damaging 1.00
R4970:Usp6nl UTSW 2 6,425,714 (GRCm39) missense probably benign 0.05
R5112:Usp6nl UTSW 2 6,425,714 (GRCm39) missense probably benign 0.05
R5621:Usp6nl UTSW 2 6,445,243 (GRCm39) missense probably benign 0.40
R5642:Usp6nl UTSW 2 6,435,275 (GRCm39) missense probably damaging 0.97
R5999:Usp6nl UTSW 2 6,446,150 (GRCm39) missense probably damaging 1.00
R6931:Usp6nl UTSW 2 6,435,269 (GRCm39) missense possibly damaging 0.55
R7188:Usp6nl UTSW 2 6,445,330 (GRCm39) missense probably benign 0.03
R7696:Usp6nl UTSW 2 6,429,134 (GRCm39) missense probably damaging 1.00
R7973:Usp6nl UTSW 2 6,413,762 (GRCm39) missense probably damaging 1.00
R8223:Usp6nl UTSW 2 6,435,327 (GRCm39) missense probably damaging 1.00
R8321:Usp6nl UTSW 2 6,395,900 (GRCm39) missense possibly damaging 0.92
R8384:Usp6nl UTSW 2 6,432,604 (GRCm39) missense possibly damaging 0.85
R8465:Usp6nl UTSW 2 6,399,352 (GRCm39) missense probably damaging 0.99
R9571:Usp6nl UTSW 2 6,445,960 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGGTTCGTGCCATTTCCACAAAG -3'
(R):5'- GCCTCAGCACTAATGGGTTACTGTC -3'

Sequencing Primer
(F):5'- TCTTGCAACTCTAAGGGGCAC -3'
(R):5'- GTTACTGTCAGTGATCTGAGTTG -3'
Posted On 2013-07-30