Incidental Mutation 'R4488:Zup1'
ID 330601
Institutional Source Beutler Lab
Gene Symbol Zup1
Ensembl Gene ENSMUSG00000039531
Gene Name zinc finger containing ubiquitin peptidase 1
Synonyms 2700019D07Rik, Zufsp
MMRRC Submission 041744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R4488 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 33795138-33827265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33824960 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 174 (T174I)
Ref Sequence ENSEMBL: ENSMUSP00000151662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218222] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000218892] [ENSMUST00000219457] [ENSMUST00000219878]
AlphaFold Q3T9Z9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048222
AA Change: T174I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: T174I

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: T174I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000218222
Predicted Effect possibly damaging
Transcript: ENSMUST00000218275
AA Change: T174I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably damaging
Transcript: ENSMUST00000218880
AA Change: T174I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218892
Predicted Effect possibly damaging
Transcript: ENSMUST00000219457
AA Change: T174I

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect possibly damaging
Transcript: ENSMUST00000219878
AA Change: T174I

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
Meta Mutation Damage Score 0.2213 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 A T 1: 6,429,631 (GRCm39) Q26L probably benign Het
Bltp1 A T 3: 37,058,082 (GRCm39) Q3224L probably null Het
Brox A G 1: 183,062,514 (GRCm39) L280S probably benign Het
Cep41 A T 6: 30,655,688 (GRCm39) probably benign Het
Cryz C A 3: 154,324,094 (GRCm39) probably benign Het
Cyp26c1 T C 19: 37,681,658 (GRCm39) V487A probably benign Het
Dlx6 T C 6: 6,867,207 (GRCm39) M270T probably damaging Het
Glb1 T C 9: 114,272,182 (GRCm39) I273T probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hcrtr1 A G 4: 130,029,556 (GRCm39) V175A probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Mki67 G A 7: 135,299,400 (GRCm39) T1878I probably benign Het
Ncoa6 A G 2: 155,249,396 (GRCm39) F1303L possibly damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nutf2 T A 8: 106,603,059 (GRCm39) probably null Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Rbm45 T C 2: 76,206,740 (GRCm39) S251P probably damaging Het
Rnaset2b A G 17: 7,265,469 (GRCm39) Y155C probably damaging Het
Rnf122 A G 8: 31,618,283 (GRCm39) T92A probably damaging Het
Rnf220 A G 4: 117,347,011 (GRCm39) S134P probably damaging Het
Shprh A T 10: 11,036,215 (GRCm39) I351F probably benign Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Sulf1 G T 1: 12,856,739 (GRCm39) probably benign Het
Svil T C 18: 5,049,067 (GRCm39) Y202H probably damaging Het
Tek A G 4: 94,737,993 (GRCm39) D681G possibly damaging Het
Tra2a A G 6: 49,229,428 (GRCm39) probably benign Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r25 A T 6: 123,799,819 (GRCm39) I841N probably damaging Het
Zfp949 T C 9: 88,452,142 (GRCm39) S571P probably damaging Het
Zkscan16 A G 4: 58,957,431 (GRCm39) E571G possibly damaging 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
R3813:Zup1 UTSW 10 33,816,218 (GRCm39) missense possibly damaging 0.63
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'- TGGGCTAGTGGTAGTACAAATG -3'
(R):5'- AAGAGTCATCTGAAAGCCTTCC -3'

Sequencing Primer
(F):5'- GCTAGTGGTAGTACAAATGCTCTC -3'
(R):5'- GAGTCATCTGAAAGCCTTCCTAAAG -3'
Posted On 2015-07-21