Incidental Mutation 'R2342:Zup1'
ID 246789
Institutional Source Beutler Lab
Gene Symbol Zup1
Ensembl Gene ENSMUSG00000039531
Gene Name zinc finger containing ubiquitin peptidase 1
Synonyms 2700019D07Rik, Zufsp
MMRRC Submission 040328-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R2342 (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 33804113 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 454 (H454Y)
Ref Sequence ENSEMBL: ENSMUSP00000151662 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048222] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880] [ENSMUST00000219457] [ENSMUST00000219878]
AlphaFold Q3T9Z9
Predicted Effect probably damaging
Transcript: ENSMUST00000048222
AA Change: H454Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: H454Y

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 probably damaging
Transcript: ENSMUST00000218055
AA Change: H454Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000218275
Predicted Effect probably damaging
Transcript: ENSMUST00000218880
AA Change: H454Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000219457
Predicted Effect probably benign
Transcript: ENSMUST00000219878
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219935
Meta Mutation Damage Score 0.6080 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef28 C T 13: 98,130,537 (GRCm39) E434K probably benign Het
Babam1 T A 8: 71,855,515 (GRCm39) M236K probably benign Het
Camk1 T C 6: 113,318,942 (GRCm39) probably benign Het
Chd8 A C 14: 52,442,674 (GRCm39) N625K probably benign Het
Dcaf8 A G 1: 172,013,928 (GRCm39) H373R possibly damaging Het
Dscam G A 16: 96,420,702 (GRCm39) T1728M probably damaging Het
Elf1 T C 14: 79,802,896 (GRCm39) probably benign Het
Epha2 C T 4: 141,050,842 (GRCm39) A866V probably benign Het
Frmd6 C A 12: 70,930,592 (GRCm39) Y237* probably null Het
Glg1 A T 8: 111,914,439 (GRCm39) C448* probably null Het
Gm4787 G T 12: 81,425,532 (GRCm39) R209S possibly damaging Het
Hhipl1 T C 12: 108,284,721 (GRCm39) L358P probably damaging Het
Hmgxb3 G A 18: 61,296,063 (GRCm39) T315I possibly damaging Het
Irak2 C A 6: 113,670,632 (GRCm39) T539K probably benign Het
Lrp1b C A 2: 40,809,208 (GRCm39) G2568C possibly damaging Het
Meis1 C T 11: 18,831,647 (GRCm39) A464T probably damaging Het
Or10g1b C A 14: 52,627,322 (GRCm39) A303S possibly damaging Het
Or6a2 T C 7: 106,600,116 (GRCm39) D317G probably benign Het
Orc4 A G 2: 48,817,152 (GRCm39) S179P probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pnliprp1 A G 19: 58,729,691 (GRCm39) probably benign Het
Prpf40b T A 15: 99,204,049 (GRCm39) V174D probably damaging Het
Rnf169 T C 7: 99,574,652 (GRCm39) K648E possibly damaging Het
Rtf1 A G 2: 119,542,598 (GRCm39) T301A probably benign Het
Sdccag8 T C 1: 176,747,207 (GRCm39) V528A probably benign Het
Sgsh A G 11: 119,238,540 (GRCm39) V308A probably benign Het
Shmt2 A G 10: 127,354,680 (GRCm39) V335A possibly damaging Het
Skint6 T A 4: 113,034,180 (GRCm39) T316S probably benign Het
Tbl2 G A 5: 135,187,607 (GRCm39) R288Q possibly damaging Het
Ttc3 C T 16: 94,232,857 (GRCm39) P1003L probably damaging Het
Usp34 A G 11: 23,353,599 (GRCm39) K1469E possibly damaging Het
Virma T C 4: 11,501,316 (GRCm39) Y92H probably damaging Het
Vmn2r112 T A 17: 22,822,096 (GRCm39) V258E probably damaging Het
Wnt16 A G 6: 22,288,923 (GRCm39) E80G probably damaging Het
Zbtb10 C T 3: 9,330,255 (GRCm39) P538S 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
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
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'- CCTGTTCATAAGCAAGCATCATCTG -3'
(R):5'- CGATTTTCCCCATAAAATGATCTCG -3'

Sequencing Primer
(F):5'- TAACCCTGATGCTGGAGA -3'
(R):5'- CCCCATAAAATGATCTCGAGATTAAG -3'
Posted On 2014-10-30