Incidental Mutation 'R3813:Zup1'
ID 274155
Institutional Source Beutler Lab
Gene Symbol Zup1
Ensembl Gene ENSMUSG00000039531
Gene Name zinc finger containing ubiquitin peptidase 1
Synonyms 2700019D07Rik, Zufsp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R3813 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 33795138-33827265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33816218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 242 (E242G)
Ref Sequence ENSEMBL: ENSMUSP00000151455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000219457] [ENSMUST00000219878]
AlphaFold Q3T9Z9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048222
AA Change: E242G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: E242G

DomainStartEndE-ValueType
ZnF_C2H2 2 24 5.42e-2 SMART
ZnF_C2H2 29 52 1.13e1 SMART
ZnF_C2H2 153 176 2.47e1 SMART
ZnF_C2H2 192 214 6.23e-2 SMART
coiled coil region 236 267 N/A INTRINSIC
Pfam:Peptidase_C78 334 550 1.2e-76 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000218055
AA Change: E242G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000218275
AA Change: E242G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000218880
AA Change: E242G

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219457
AA Change: E242G

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000219878
Meta Mutation Damage Score 0.1143 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (50/50)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 89,825,785 (GRCm39) D1018G possibly damaging Het
Adgrg1 T A 8: 95,738,193 (GRCm39) L562Q probably benign Het
Ankrd11 T C 8: 123,618,117 (GRCm39) T1891A probably benign Het
Arid2 A G 15: 96,267,831 (GRCm39) N648S probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Cacna1s A T 1: 136,013,085 (GRCm39) I312F probably damaging Het
Cenpj A G 14: 56,790,679 (GRCm39) S457P probably benign Het
Cep120 G A 18: 53,873,284 (GRCm39) probably benign Het
Cfap70 T A 14: 20,471,190 (GRCm39) I493L possibly damaging Het
Cfap97d1 A T 11: 101,882,314 (GRCm39) R106S probably benign Het
Csmd3 T C 15: 48,655,209 (GRCm39) D31G possibly damaging Het
Cstf3 T C 2: 104,439,466 (GRCm39) Y54H probably damaging Het
Cubn T A 2: 13,299,136 (GRCm39) Y3179F probably damaging Het
Cyp2s1 C T 7: 25,505,291 (GRCm39) probably null Het
Dll4 C A 2: 119,161,510 (GRCm39) T364N possibly damaging Het
Doc2g C T 19: 4,054,466 (GRCm39) probably null Het
Etl4 A G 2: 20,793,246 (GRCm39) E657G probably damaging Het
Fhdc1 A G 3: 84,371,577 (GRCm39) probably null Het
Fndc1 T C 17: 7,992,154 (GRCm39) H514R unknown Het
Gpat3 A G 5: 101,039,505 (GRCm39) probably benign Het
H2-Q4 A G 17: 35,602,071 (GRCm39) H311R possibly damaging Het
Hipk4 T C 7: 27,223,372 (GRCm39) L144S probably damaging Het
Hspa4 G A 11: 53,161,806 (GRCm39) P449S probably benign Het
Kif7 A G 7: 79,363,638 (GRCm39) V90A probably damaging Het
Klhl38 T C 15: 58,185,953 (GRCm39) I259V probably benign Het
Krt9 T A 11: 100,080,503 (GRCm39) E414D probably damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrriq1 T C 10: 103,051,972 (GRCm39) E260G probably damaging Het
Macf1 A G 4: 123,268,560 (GRCm39) S4689P probably damaging Het
Manba G A 3: 135,269,023 (GRCm39) E643K possibly damaging Het
Mc3r T A 2: 172,090,799 (GRCm39) L7Q probably benign Het
Mdga1 G A 17: 30,057,453 (GRCm39) P788S probably damaging Het
Or5d35 T C 2: 87,855,105 (GRCm39) F13S probably damaging Het
Or6c70 T A 10: 129,709,855 (GRCm39) Y257F probably damaging Het
Pcdh12 G A 18: 38,416,667 (GRCm39) R153* probably null Het
Plk3 T C 4: 116,990,647 (GRCm39) Y89C probably damaging Het
Prss41 G A 17: 24,056,596 (GRCm39) R160* probably null Het
Rae1 T A 2: 172,848,666 (GRCm39) probably benign Het
Rbm17 T A 2: 11,600,246 (GRCm39) probably benign Het
Recql4 A T 15: 76,588,694 (GRCm39) M1039K possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slit3 A G 11: 35,566,806 (GRCm39) Y1026C probably damaging Het
Tbl2 T A 5: 135,185,375 (GRCm39) probably null Het
Tex2 G A 11: 106,402,770 (GRCm39) T1034I unknown Het
Tmem241 A T 18: 12,200,167 (GRCm39) probably benign Het
Tmtc1 T C 6: 148,256,389 (GRCm39) probably benign Het
Trappc9 A T 15: 72,930,242 (GRCm39) I38N probably damaging Het
Trmt1 T A 8: 85,421,846 (GRCm39) probably benign Het
Vps37d G A 5: 135,103,304 (GRCm39) Q113* probably null Het
Other mutations in Zup1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02510:Zup1 APN 10 33,806,150 (GRCm39) critical splice donor site probably null
IGL02586:Zup1 APN 10 33,811,261 (GRCm39) intron probably benign
IGL03350:Zup1 APN 10 33,804,107 (GRCm39) missense probably benign 0.04
R0145:Zup1 UTSW 10 33,819,709 (GRCm39) missense probably damaging 0.96
R1156:Zup1 UTSW 10 33,825,222 (GRCm39) missense probably benign 0.15
R1523:Zup1 UTSW 10 33,803,436 (GRCm39) missense probably damaging 1.00
R1769:Zup1 UTSW 10 33,811,172 (GRCm39) missense probably damaging 1.00
R1802:Zup1 UTSW 10 33,819,714 (GRCm39) missense probably damaging 0.98
R2013:Zup1 UTSW 10 33,805,820 (GRCm39) missense possibly damaging 0.75
R2014:Zup1 UTSW 10 33,805,820 (GRCm39) missense possibly damaging 0.75
R2015:Zup1 UTSW 10 33,805,820 (GRCm39) missense possibly damaging 0.75
R2017:Zup1 UTSW 10 33,803,460 (GRCm39) missense possibly damaging 0.46
R2342:Zup1 UTSW 10 33,804,113 (GRCm39) missense probably damaging 1.00
R2901:Zup1 UTSW 10 33,804,059 (GRCm39) missense probably benign
R2901:Zup1 UTSW 10 33,803,608 (GRCm39) missense probably damaging 1.00
R4488:Zup1 UTSW 10 33,824,960 (GRCm39) missense probably damaging 1.00
R4674:Zup1 UTSW 10 33,824,980 (GRCm39) missense possibly damaging 0.92
R4883:Zup1 UTSW 10 33,825,038 (GRCm39) missense probably damaging 0.98
R4926:Zup1 UTSW 10 33,825,434 (GRCm39) missense probably damaging 1.00
R5163:Zup1 UTSW 10 33,825,439 (GRCm39) missense probably damaging 1.00
R5373:Zup1 UTSW 10 33,803,462 (GRCm39) missense possibly damaging 0.46
R5374:Zup1 UTSW 10 33,803,462 (GRCm39) missense possibly damaging 0.46
R5924:Zup1 UTSW 10 33,803,543 (GRCm39) missense probably damaging 0.96
R5929:Zup1 UTSW 10 33,825,043 (GRCm39) nonsense probably null
R5941:Zup1 UTSW 10 33,825,458 (GRCm39) missense probably damaging 1.00
R6337:Zup1 UTSW 10 33,825,252 (GRCm39) missense probably benign 0.00
R6663:Zup1 UTSW 10 33,825,431 (GRCm39) missense possibly damaging 0.86
R6753:Zup1 UTSW 10 33,804,025 (GRCm39) missense probably damaging 1.00
R7690:Zup1 UTSW 10 33,806,151 (GRCm39) critical splice donor site probably null
R7772:Zup1 UTSW 10 33,797,698 (GRCm39) splice site probably null
R7836:Zup1 UTSW 10 33,795,315 (GRCm39) missense unknown
R7919:Zup1 UTSW 10 33,825,108 (GRCm39) missense possibly damaging 0.92
R8054:Zup1 UTSW 10 33,816,248 (GRCm39) missense probably damaging 1.00
R8943:Zup1 UTSW 10 33,795,301 (GRCm39) makesense probably null
R9433:Zup1 UTSW 10 33,795,355 (GRCm39) missense probably damaging 1.00
X0063:Zup1 UTSW 10 33,819,683 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGAACCTTAGCTTTTAATGGC -3'
(R):5'- AGTTGTTTTCAGAGACACCAATGAC -3'

Sequencing Primer
(F):5'- GAACCTTAGCTTTTAATGGCAGACCC -3'
(R):5'- TTTTCAGAGACACCAATGACAAGAG -3'
Posted On 2015-04-02