Incidental Mutation 'R9359:Uspl1'
ID 708572
Institutional Source Beutler Lab
Gene Symbol Uspl1
Ensembl Gene ENSMUSG00000041264
Gene Name ubiquitin specific peptidase like 1
Synonyms E430026A01Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R9359 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 149121338-149152246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 149146481 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 411 (V411M)
Ref Sequence ENSEMBL: ENSMUSP00000050172 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050472] [ENSMUST00000100410] [ENSMUST00000117878] [ENSMUST00000119685] [ENSMUST00000121416] [ENSMUST00000122160] [ENSMUST00000126168]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000050472
AA Change: V411M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: V411M

DomainStartEndE-ValueType
low complexity region 174 192 N/A INTRINSIC
Pfam:Peptidase_C98 213 486 7e-139 PFAM
Pfam:DUF4650 557 1087 1.9e-213 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100410
AA Change: V411M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: V411M

DomainStartEndE-ValueType
low complexity region 174 192 N/A INTRINSIC
Pfam:Peptidase_C98 213 486 1.4e-139 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117878
AA Change: V212M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: V212M

DomainStartEndE-ValueType
Pfam:Peptidase_C98 14 287 5.6e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119685
AA Change: V397M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: V397M

DomainStartEndE-ValueType
low complexity region 160 178 N/A INTRINSIC
Pfam:Peptidase_C98 199 472 6.9e-139 PFAM
Pfam:DUF4650 543 1073 1.8e-213 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121416
AA Change: V212M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: V212M

DomainStartEndE-ValueType
Pfam:Peptidase_C98 14 287 8.5e-139 PFAM
Pfam:DUF4650 358 888 1.5e-213 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000122160
AA Change: V411M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: V411M

DomainStartEndE-ValueType
low complexity region 174 192 N/A INTRINSIC
Pfam:Peptidase_C98 214 486 2.5e-125 PFAM
Pfam:DUF4650 558 1087 1e-205 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126168
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (45/45)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angpt4 C T 2: 151,780,892 (GRCm39) T380M probably damaging Het
Ankrd50 A T 3: 38,537,172 (GRCm39) N60K probably damaging Het
Atp6v0a4 G A 6: 38,059,048 (GRCm39) T245I probably benign Het
Calcoco2 TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,862 (GRCm39) probably null Het
Cyp2j13 T C 4: 95,950,170 (GRCm39) D277G probably damaging Het
Def8 A T 8: 124,185,105 (GRCm39) I310F probably benign Het
Dmtf1 A G 5: 9,171,927 (GRCm39) L503S possibly damaging Het
Dock1 T C 7: 134,770,125 (GRCm39) V1795A probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Gabbr1 A G 17: 37,381,605 (GRCm39) T790A probably damaging Het
Glg1 C T 8: 111,914,425 (GRCm39) R453Q probably benign Het
Gm10549 C T 18: 33,597,375 (GRCm39) P54S unknown Het
Gpld1 G A 13: 25,163,712 (GRCm39) V502I probably benign Het
Ifnar1 C T 16: 91,292,367 (GRCm39) P207L probably benign Het
Inhba A G 13: 16,191,966 (GRCm39) H29R probably benign Het
Insr G C 8: 3,208,717 (GRCm39) P1248R probably damaging Het
Ipcef1 C T 10: 6,840,663 (GRCm39) D349N probably damaging Het
Itga4 T A 2: 79,156,004 (GRCm39) I990N possibly damaging Het
Malrd1 T C 2: 15,618,988 (GRCm39) V284A Het
Maml2 C T 9: 13,532,969 (GRCm39) Q728* probably null Het
Mex3d A T 10: 80,217,581 (GRCm39) N545K Het
Mios T A 6: 8,214,894 (GRCm39) V30E probably benign Het
Muc16 A G 9: 18,449,060 (GRCm39) probably null Het
Naxd A G 8: 11,562,968 (GRCm39) K303E possibly damaging Het
Or2w1 T C 13: 21,317,865 (GRCm39) F307L probably benign Het
Or4l1 T C 14: 50,166,906 (GRCm39) T32A probably benign Het
Or5a21 T A 19: 12,310,803 (GRCm39) H139L possibly damaging Het
Or9q2 C T 19: 13,772,200 (GRCm39) M258I probably damaging Het
Ovgp1 T C 3: 105,893,883 (GRCm39) probably benign Het
Pknox1 C T 17: 31,822,229 (GRCm39) T332M possibly damaging Het
Ptgdr A G 14: 45,090,715 (GRCm39) S348P Het
Ptpdc1 T A 13: 48,740,030 (GRCm39) E467V probably benign Het
Qsox1 A G 1: 155,658,343 (GRCm39) S409P probably damaging Het
Rfx4 A G 10: 84,740,921 (GRCm39) T680A probably benign Het
Slc30a5 T C 13: 100,949,970 (GRCm39) T371A probably damaging Het
Slc5a7 A T 17: 54,583,669 (GRCm39) N540K probably benign Het
Slco6c1 A T 1: 96,990,248 (GRCm39) S664R possibly damaging Het
Tbxa2r A G 10: 81,168,958 (GRCm39) S216G probably damaging Het
Tgm4 C A 9: 122,881,837 (GRCm39) S344R probably damaging Het
Thoc6 A G 17: 23,887,823 (GRCm39) V328A possibly damaging Het
Trim61 T A 8: 65,467,228 (GRCm39) Q11L probably damaging Het
Txndc2 G A 17: 65,944,992 (GRCm39) T395I probably damaging Het
Txndc9 T C 1: 38,034,859 (GRCm39) E15G probably benign Het
Unc93a2 G T 17: 7,641,842 (GRCm39) T202K probably damaging Het
Vcpip1 A G 1: 9,816,049 (GRCm39) I778T possibly damaging Het
Vps54 A G 11: 21,242,108 (GRCm39) T408A probably benign Het
Wscd1 T C 11: 71,650,799 (GRCm39) L42P possibly damaging Het
Other mutations in Uspl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00478:Uspl1 APN 5 149,152,024 (GRCm39) missense possibly damaging 0.95
IGL00571:Uspl1 APN 5 149,125,170 (GRCm39) missense probably damaging 0.99
IGL01134:Uspl1 APN 5 149,141,103 (GRCm39) missense probably damaging 1.00
IGL02222:Uspl1 APN 5 149,130,854 (GRCm39) missense probably benign 0.25
IGL02383:Uspl1 APN 5 149,150,212 (GRCm39) missense probably damaging 0.98
IGL02538:Uspl1 APN 5 149,125,269 (GRCm39) missense probably damaging 1.00
IGL02546:Uspl1 APN 5 149,141,114 (GRCm39) missense possibly damaging 0.95
IGL02585:Uspl1 APN 5 149,150,872 (GRCm39) nonsense probably null
IGL02971:Uspl1 APN 5 149,125,156 (GRCm39) missense possibly damaging 0.84
R0020:Uspl1 UTSW 5 149,146,589 (GRCm39) missense probably damaging 1.00
R0070:Uspl1 UTSW 5 149,146,515 (GRCm39) missense probably damaging 1.00
R0142:Uspl1 UTSW 5 149,125,159 (GRCm39) missense possibly damaging 0.68
R0433:Uspl1 UTSW 5 149,151,625 (GRCm39) missense probably damaging 1.00
R0554:Uspl1 UTSW 5 149,124,644 (GRCm39) missense probably damaging 1.00
R0612:Uspl1 UTSW 5 149,151,767 (GRCm39) missense probably damaging 1.00
R1195:Uspl1 UTSW 5 149,131,131 (GRCm39) missense probably benign 0.24
R1195:Uspl1 UTSW 5 149,131,131 (GRCm39) missense probably benign 0.24
R1195:Uspl1 UTSW 5 149,131,131 (GRCm39) missense probably benign 0.24
R1465:Uspl1 UTSW 5 149,150,842 (GRCm39) missense probably benign 0.12
R1465:Uspl1 UTSW 5 149,150,842 (GRCm39) missense probably benign 0.12
R1623:Uspl1 UTSW 5 149,152,009 (GRCm39) missense probably damaging 1.00
R1737:Uspl1 UTSW 5 149,138,668 (GRCm39) missense probably damaging 1.00
R1793:Uspl1 UTSW 5 149,150,246 (GRCm39) missense probably damaging 1.00
R1823:Uspl1 UTSW 5 149,151,224 (GRCm39) missense probably benign 0.25
R2088:Uspl1 UTSW 5 149,146,560 (GRCm39) missense probably damaging 1.00
R2099:Uspl1 UTSW 5 149,151,568 (GRCm39) missense probably damaging 1.00
R2497:Uspl1 UTSW 5 149,124,664 (GRCm39) missense probably damaging 0.98
R2944:Uspl1 UTSW 5 149,138,606 (GRCm39) missense probably damaging 1.00
R3437:Uspl1 UTSW 5 149,151,507 (GRCm39) utr 3 prime probably benign
R4132:Uspl1 UTSW 5 149,141,159 (GRCm39) missense probably damaging 0.99
R4458:Uspl1 UTSW 5 149,150,962 (GRCm39) missense possibly damaging 0.82
R4537:Uspl1 UTSW 5 149,124,588 (GRCm39) missense possibly damaging 0.66
R4623:Uspl1 UTSW 5 149,151,405 (GRCm39) missense probably damaging 0.99
R4633:Uspl1 UTSW 5 149,151,202 (GRCm39) missense probably damaging 1.00
R4737:Uspl1 UTSW 5 149,131,149 (GRCm39) missense possibly damaging 0.86
R4743:Uspl1 UTSW 5 149,146,566 (GRCm39) missense probably damaging 1.00
R5200:Uspl1 UTSW 5 149,150,923 (GRCm39) missense probably benign 0.02
R5222:Uspl1 UTSW 5 149,150,911 (GRCm39) missense possibly damaging 0.77
R5337:Uspl1 UTSW 5 149,151,556 (GRCm39) missense probably damaging 0.99
R5496:Uspl1 UTSW 5 149,146,589 (GRCm39) missense probably damaging 1.00
R5654:Uspl1 UTSW 5 149,146,521 (GRCm39) missense probably damaging 1.00
R5845:Uspl1 UTSW 5 149,130,770 (GRCm39) missense probably benign 0.01
R6266:Uspl1 UTSW 5 149,141,176 (GRCm39) missense probably damaging 1.00
R6331:Uspl1 UTSW 5 149,151,097 (GRCm39) missense probably benign 0.40
R6338:Uspl1 UTSW 5 149,151,844 (GRCm39) missense probably benign 0.03
R6774:Uspl1 UTSW 5 149,150,904 (GRCm39) missense probably benign 0.00
R6855:Uspl1 UTSW 5 149,124,655 (GRCm39) missense probably damaging 1.00
R7131:Uspl1 UTSW 5 149,130,745 (GRCm39) missense probably benign 0.00
R7152:Uspl1 UTSW 5 149,124,588 (GRCm39) missense possibly damaging 0.66
R7446:Uspl1 UTSW 5 149,141,082 (GRCm39) nonsense probably null
R7661:Uspl1 UTSW 5 149,151,827 (GRCm39) missense probably benign 0.15
R8095:Uspl1 UTSW 5 149,150,992 (GRCm39) nonsense probably null
R8126:Uspl1 UTSW 5 149,151,430 (GRCm39) missense probably damaging 1.00
R8316:Uspl1 UTSW 5 149,135,491 (GRCm39) missense possibly damaging 0.75
R8479:Uspl1 UTSW 5 149,152,004 (GRCm39) missense probably damaging 1.00
R8926:Uspl1 UTSW 5 149,138,701 (GRCm39) critical splice donor site probably null
R9140:Uspl1 UTSW 5 149,150,290 (GRCm39) missense possibly damaging 0.57
R9178:Uspl1 UTSW 5 149,141,148 (GRCm39) missense probably damaging 1.00
R9196:Uspl1 UTSW 5 149,151,349 (GRCm39) missense probably benign 0.02
R9384:Uspl1 UTSW 5 149,151,349 (GRCm39) missense probably benign 0.02
R9608:Uspl1 UTSW 5 149,151,870 (GRCm39) missense probably benign 0.17
X0019:Uspl1 UTSW 5 149,151,077 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAGGGTCTTTGTCAGTCCTG -3'
(R):5'- ACCCCACAAGGCTCTATTTC -3'

Sequencing Primer
(F):5'- AGTCCTGTTGCACAGTGGCTC -3'
(R):5'- ACAAGGCTCTATTTCTCATGTGCAG -3'
Posted On 2022-04-18