Incidental Mutation 'R0070:Uspl1'
ID 64451
Institutional Source Beutler Lab
Gene Symbol Uspl1
Ensembl Gene ENSMUSG00000041264
Gene Name ubiquitin specific peptidase like 1
Synonyms E430026A01Rik
MMRRC Submission 038361-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # R0070 (G1)
Quality Score 108
Status Validated
Chromosome 5
Chromosomal Location 149121338-149152246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149146515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 422 (Y422C)
Ref Sequence ENSEMBL: ENSMUSP00000113247 (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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: Y422C

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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: Y422C

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: Y223C

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: Y223C

DomainStartEndE-ValueType
Pfam:Peptidase_C98 14 287 5.6e-140 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000119685
AA Change: Y408C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: Y408C

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: Y223C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: Y223C

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: Y422C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: Y422C

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 noncoding transcript
Transcript: ENSMUST00000150921
Predicted Effect probably benign
Transcript: ENSMUST00000126168
Meta Mutation Damage Score 0.3657 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.1%
Validation Efficiency 97% (68/70)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre4 T C 17: 56,109,154 (GRCm39) I387T probably damaging Het
Alpi A G 1: 87,028,881 (GRCm39) probably benign Het
Ankfn1 A T 11: 89,283,128 (GRCm39) L173Q probably damaging Het
Atp2a1 T C 7: 126,046,624 (GRCm39) E892G probably benign Het
AU018091 T C 7: 3,208,738 (GRCm39) probably null Het
Capn12 T C 7: 28,588,551 (GRCm39) probably benign Het
Capn2 C A 1: 182,301,434 (GRCm39) probably benign Het
Cd79b A G 11: 106,202,744 (GRCm39) probably benign Het
Cdh20 C T 1: 110,026,102 (GRCm39) A446V probably benign Het
Ciapin1 T C 8: 95,551,847 (GRCm39) N246S possibly damaging Het
Cmip T A 8: 118,153,293 (GRCm39) I270N probably damaging Het
Cyp2d40 A G 15: 82,644,975 (GRCm39) V225A unknown Het
Dnah9 A G 11: 66,050,866 (GRCm39) V142A probably benign Het
Dnai4 A T 4: 102,917,131 (GRCm39) I571K probably damaging Het
Flt3 A G 5: 147,309,536 (GRCm39) probably benign Het
Gm10238 A G 15: 75,109,434 (GRCm39) noncoding transcript Het
Gm4787 T A 12: 81,425,840 (GRCm39) D106V probably damaging Het
Hipk2 G A 6: 38,795,919 (GRCm39) R117* probably null Het
Hycc1 T C 5: 24,169,997 (GRCm39) S451G probably damaging Het
Ifna11 A G 4: 88,738,512 (GRCm39) D106G possibly damaging Het
Igkv1-115 G A 6: 68,138,402 (GRCm39) V2I probably benign Het
Itga6 T C 2: 71,657,060 (GRCm39) probably benign Het
Kcnj6 C A 16: 94,742,056 (GRCm39) K5N probably benign Het
Kcnt1 T C 2: 25,782,374 (GRCm39) V191A probably benign Het
Lcorl G A 5: 45,891,043 (GRCm39) R437C probably damaging Het
Man2a1 G A 17: 64,966,074 (GRCm39) probably null Het
Map3k14 T A 11: 103,130,380 (GRCm39) probably null Het
Mtch1 T A 17: 29,559,033 (GRCm39) probably benign Het
Myo1c A G 11: 75,551,076 (GRCm39) N217S probably benign Het
Or2h15 A G 17: 38,441,780 (GRCm39) L101P probably damaging Het
Or2w4 T C 13: 21,795,431 (GRCm39) K236R possibly damaging Het
Orm3 A G 4: 63,274,883 (GRCm39) T64A probably benign Het
Phf20l1 T G 15: 66,511,840 (GRCm39) W940G probably damaging Het
Phldb1 C T 9: 44,619,201 (GRCm39) R844H probably damaging Het
Piezo2 T C 18: 63,235,155 (GRCm39) D814G probably damaging Het
Pkd2 T C 5: 104,614,856 (GRCm39) C233R probably damaging Het
Prkd3 A G 17: 79,261,939 (GRCm39) Y792H probably damaging Het
Pth1r A T 9: 110,556,618 (GRCm39) probably null Het
Pxdn T C 12: 30,032,726 (GRCm39) L146S probably damaging Het
Rnf32 A G 5: 29,430,125 (GRCm39) T315A probably benign Het
Rpl5 T C 5: 108,049,766 (GRCm39) Y12H probably benign Het
Serpinh1 A T 7: 98,998,521 (GRCm39) S36R probably damaging Het
Setx A T 2: 29,051,537 (GRCm39) T2030S probably benign Het
Sf3a3 G A 4: 124,608,748 (GRCm39) V21I probably benign Het
Sin3b T A 8: 73,452,210 (GRCm39) H105Q probably damaging Het
Slitrk1 T C 14: 109,150,749 (GRCm39) probably benign Het
Slx4 A T 16: 3,805,880 (GRCm39) D557E possibly damaging Het
Sprr3 C T 3: 92,364,609 (GRCm39) M78I probably benign Het
Ssmem1 A G 6: 30,519,420 (GRCm39) E35G possibly damaging Het
Stag1 C T 9: 100,838,461 (GRCm39) P1238S probably null Het
Stra6 C T 9: 58,059,898 (GRCm39) probably benign Het
Tmem127 T C 2: 127,098,979 (GRCm39) V171A probably damaging Het
Tmem150a A G 6: 72,335,742 (GRCm39) probably null Het
Top2a C G 11: 98,905,886 (GRCm39) probably null Het
Ttn T C 2: 76,644,771 (GRCm39) probably null Het
Tusc3 G A 8: 39,530,421 (GRCm39) G129R possibly damaging Het
Vmn2r88 A T 14: 51,651,597 (GRCm39) T312S probably benign Het
Zc3hav1l A T 6: 38,272,125 (GRCm39) S215T probably damaging Het
Zfp947 T A 17: 22,365,165 (GRCm39) T170S probably benign 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
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
R9359:Uspl1 UTSW 5 149,146,481 (GRCm39) missense probably damaging 1.00
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'- TTCCCTTTCTAATCACGGCACACAG -3'
(R):5'- TTCAGACACACATCGCAGTCAGG -3'

Sequencing Primer
(F):5'- ACTCATGCTGCACTTCGT -3'
(R):5'- GTCCAGATGAAATCTGTCTTTAAACC -3'
Posted On 2013-08-06