Incidental Mutation 'IGL02546:Uspl1'
ID 297845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uspl1
Ensembl Gene ENSMUSG00000041264
Gene Name ubiquitin specific peptidase like 1
Synonyms E430026A01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL02546
Quality Score
Status
Chromosome 5
Chromosomal Location 149121338-149152246 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149141114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 371 (V371A)
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 possibly damaging
Transcript: ENSMUST00000050472
AA Change: V371A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000050172
Gene: ENSMUSG00000041264
AA Change: V371A

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 possibly damaging
Transcript: ENSMUST00000100410
AA Change: V371A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000097978
Gene: ENSMUSG00000041264
AA Change: V371A

DomainStartEndE-ValueType
low complexity region 174 192 N/A INTRINSIC
Pfam:Peptidase_C98 213 486 1.4e-139 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000117878
AA Change: V172A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113176
Gene: ENSMUSG00000041264
AA Change: V172A

DomainStartEndE-ValueType
Pfam:Peptidase_C98 14 287 5.6e-140 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000119685
AA Change: V357A

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000114104
Gene: ENSMUSG00000041264
AA Change: V357A

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 possibly damaging
Transcript: ENSMUST00000121416
AA Change: V172A

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000113894
Gene: ENSMUSG00000041264
AA Change: V172A

DomainStartEndE-ValueType
Pfam:Peptidase_C98 14 287 8.5e-139 PFAM
Pfam:DUF4650 358 888 1.5e-213 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000122160
AA Change: V371A

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000113247
Gene: ENSMUSG00000041264
AA Change: V371A

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 G T 12: 52,927,521 (GRCm39) V144L probably damaging Het
Carmil1 A T 13: 24,299,482 (GRCm39) N347K probably damaging Het
Cyp4a32 A G 4: 115,468,520 (GRCm39) Y334C probably damaging Het
Dmxl2 C A 9: 54,273,698 (GRCm39) probably benign Het
Eps8 C T 6: 137,456,064 (GRCm39) A806T probably benign Het
Evl A G 12: 108,614,678 (GRCm39) N24S possibly damaging Het
Fbxo15 T C 18: 84,980,847 (GRCm39) probably null Het
Gm14179 A T 11: 99,634,019 (GRCm39) Het
Hepacam2 A G 6: 3,483,568 (GRCm39) V147A possibly damaging Het
Jmjd1c C A 10: 67,061,115 (GRCm39) P1156Q possibly damaging Het
Mab21l3 A T 3: 101,730,624 (GRCm39) V205E probably damaging Het
Mad2l1 T C 6: 66,512,951 (GRCm39) I28T probably damaging Het
Minar2 T A 18: 59,205,347 (GRCm39) M45K probably damaging Het
Mroh9 T A 1: 162,908,145 (GRCm39) I2F probably benign Het
Msr1 A T 8: 40,068,788 (GRCm39) I302K probably benign Het
Msrb3 C T 10: 120,685,906 (GRCm39) V80I possibly damaging Het
Ncf4 A G 15: 78,145,219 (GRCm39) D269G probably damaging Het
Nsl1 T A 1: 190,803,398 (GRCm39) H156Q probably benign Het
Nutm1 T C 2: 112,078,669 (GRCm39) D1082G probably benign Het
Or6c216 T A 10: 129,678,416 (GRCm39) D165V probably damaging Het
Or7g20 T A 9: 18,946,650 (GRCm39) V77D possibly damaging Het
Orc4 T C 2: 48,807,296 (GRCm39) I212V probably null Het
Pde6c A G 19: 38,128,488 (GRCm39) I184V probably benign Het
Pfkfb3 A T 2: 11,493,589 (GRCm39) F129Y probably damaging Het
Ppp3cb T C 14: 20,551,622 (GRCm39) D493G probably benign Het
Psg29 A G 7: 16,942,707 (GRCm39) Y236C probably damaging Het
Pzp C T 6: 128,471,662 (GRCm39) probably benign Het
Semp2l2b A T 10: 21,942,826 (GRCm39) W385R probably damaging Het
Sgf29 T A 7: 126,271,025 (GRCm39) V180E probably damaging Het
Sh3bp4 A G 1: 89,071,266 (GRCm39) probably benign Het
Slc39a2 A T 14: 52,132,620 (GRCm39) T188S probably benign Het
Slc6a13 G T 6: 121,310,323 (GRCm39) M327I probably benign Het
Slitrk6 T A 14: 110,987,226 (GRCm39) H827L probably benign Het
Thumpd2 T G 17: 81,361,884 (GRCm39) K114T probably benign Het
Tnfrsf19 A T 14: 61,210,987 (GRCm39) C234S possibly damaging Het
Tns2 A G 15: 102,019,375 (GRCm39) D446G probably damaging Het
Tpm4 A G 8: 72,898,547 (GRCm39) E137G probably damaging Het
Ttn G A 2: 76,625,901 (GRCm39) R13307C probably damaging Het
Ubqln3 A G 7: 103,791,725 (GRCm39) S122P probably benign Het
Ubr5 T C 15: 38,008,991 (GRCm39) D1080G probably benign Het
Ulk4 A T 9: 120,981,373 (GRCm39) L886* probably null Het
Unc80 T C 1: 66,594,112 (GRCm39) S1164P possibly damaging Het
Virma T C 4: 11,494,804 (GRCm39) V35A probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp787 A T 7: 6,135,297 (GRCm39) I318N probably 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
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
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
Posted On 2015-04-16