Incidental Mutation 'R9433:Zup1'
ID 713111
Institutional Source Beutler Lab
Gene Symbol Zup1
Ensembl Gene ENSMUSG00000039531
Gene Name zinc finger containing ubiquitin peptidase 1
Synonyms 2700019D07Rik, Zufsp
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R9433 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 33795138-33827265 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 33795355 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 568 (S568L)
Ref Sequence ENSEMBL: ENSMUSP00000151811 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169670] [ENSMUST00000218055] [ENSMUST00000218275] [ENSMUST00000218880]
AlphaFold Q3T9Z9
Predicted Effect probably benign
Transcript: ENSMUST00000169670
SMART Domains Protein: ENSMUSP00000131647
Gene: ENSMUSG00000039552

DomainStartEndE-ValueType
low complexity region 80 87 N/A INTRINSIC
Pfam:Radial_spoke 209 695 2.7e-205 PFAM
low complexity region 702 716 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000218055
AA Change: S568L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000218275
Predicted Effect probably damaging
Transcript: ENSMUST00000218880
AA Change: R534C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 T C 12: 81,466,723 (GRCm39) T633A possibly damaging Het
Adgrv1 A T 13: 81,714,471 (GRCm39) F937L probably benign Het
Adipor2 A T 6: 119,336,486 (GRCm39) F159Y probably damaging Het
Ahcyl1 A G 3: 107,575,645 (GRCm39) V380A probably damaging Het
Akp3 A G 1: 87,053,517 (GRCm39) K157E probably benign Het
Arpc1a T A 5: 145,045,203 (GRCm39) I364N possibly damaging Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
Brms1l G A 12: 55,912,863 (GRCm39) probably null Het
Camk1d A G 2: 5,680,777 (GRCm39) S6P unknown Het
Ccdc112 C A 18: 46,424,040 (GRCm39) V233L probably benign Het
Ccdc113 A T 8: 96,272,613 (GRCm39) N240I possibly damaging Het
Ccdc168 A T 1: 44,095,668 (GRCm39) V1810E possibly damaging Het
Ccdc6 T C 10: 70,004,951 (GRCm39) V232A possibly damaging Het
Cct5 A G 15: 31,592,883 (GRCm39) I409T possibly damaging Het
Cd96 A G 16: 45,856,298 (GRCm39) Y583H probably damaging Het
Cdh22 C T 2: 164,954,329 (GRCm39) V731M probably benign Het
Clcn1 C T 6: 42,282,494 (GRCm39) P521S probably damaging Het
Clec18a C T 8: 111,808,322 (GRCm39) A27T probably benign Het
Cnnm2 C T 19: 46,750,807 (GRCm39) A199V probably benign Het
Copg1 G A 6: 87,880,478 (GRCm39) A494T possibly damaging Het
Cpsf2 A G 12: 101,948,252 (GRCm39) E16G probably damaging Het
Cyp2j5 T A 4: 96,552,244 (GRCm39) I2F probably benign Het
Dgkg T A 16: 22,384,065 (GRCm39) N463Y probably damaging Het
Dnah11 T C 12: 117,976,007 (GRCm39) D2804G probably damaging Het
Efcab12 T C 6: 115,792,995 (GRCm39) N488D probably benign Het
Etv5 G A 16: 22,254,668 (GRCm39) P64L probably damaging Het
Fbrs A G 7: 127,084,272 (GRCm39) E468G probably benign Het
Fcho1 A T 8: 72,169,468 (GRCm39) M146K probably benign Het
Gad1 A T 2: 70,423,807 (GRCm39) M405L Het
Gcc2 T A 10: 58,106,592 (GRCm39) H609Q probably benign Het
Gm11983 A T 11: 6,786,902 (GRCm39) M75K unknown Het
Gm4353 T A 7: 115,682,871 (GRCm39) I237F probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hcn4 A G 9: 58,731,222 (GRCm39) D143G unknown Het
Id1 T A 2: 152,578,430 (GRCm39) V57D probably damaging Het
Ifna13 T C 4: 88,562,540 (GRCm39) Q28R probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,875,538 (GRCm39) probably benign Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Mia2 A G 12: 59,148,371 (GRCm39) E77G probably damaging Het
Muc16 T A 9: 18,483,937 (GRCm39) Q6945L probably benign Het
Nos2 G A 11: 78,850,490 (GRCm39) R1116H probably damaging Het
Or2w4 C T 13: 21,795,224 (GRCm39) C305Y probably benign Het
Parpbp A C 10: 87,975,858 (GRCm39) V85G probably benign Het
Pcmtd2 C T 2: 181,496,837 (GRCm39) H273Y possibly damaging Het
Pcp4l1 C T 1: 171,001,998 (GRCm39) G54D probably damaging Het
Pkdrej T C 15: 85,704,070 (GRCm39) H622R probably benign Het
Plxnd1 G T 6: 115,945,754 (GRCm39) D906E probably benign Het
Pnpla8 T C 12: 44,330,305 (GRCm39) S286P probably damaging Het
Prss36 C T 7: 127,533,339 (GRCm39) V631I probably benign Het
Ptpn9 A T 9: 56,964,010 (GRCm39) N381I possibly damaging Het
Ranbp9 A T 13: 43,576,041 (GRCm39) I222N probably damaging Het
Rev1 T C 1: 38,092,173 (GRCm39) T1249A probably damaging Het
Ripply2 G T 9: 86,901,715 (GRCm39) W80C probably damaging Het
Rnaseh2b C A 14: 62,602,722 (GRCm39) P235Q probably benign Het
Sacs T A 14: 61,443,997 (GRCm39) F2014L probably damaging Het
Serpinb9f A G 13: 33,518,238 (GRCm39) N246S probably benign Het
Sh3pxd2a A T 19: 47,255,539 (GRCm39) S1088T probably damaging Het
Shank1 G A 7: 43,962,342 (GRCm39) S71N unknown Het
Skint3 A G 4: 112,137,432 (GRCm39) I367V probably benign Het
Slc20a2 G T 8: 23,051,211 (GRCm39) E415* probably null Het
Slc5a1 T A 5: 33,310,025 (GRCm39) S418T probably benign Het
Spats2 G T 15: 99,076,446 (GRCm39) G175* probably null Het
Srebf1 A T 11: 60,095,015 (GRCm39) F485L possibly damaging Het
St8sia4 A G 1: 95,555,364 (GRCm39) V222A Het
Stab1 C T 14: 30,865,531 (GRCm39) E1786K probably benign Het
Stat2 A G 10: 128,112,657 (GRCm39) M58V probably benign Het
Stat5a A G 11: 100,765,870 (GRCm39) T319A probably benign Het
Sufu A G 19: 46,385,532 (GRCm39) probably benign Het
Tle6 T A 10: 81,426,880 (GRCm39) I579F probably damaging Het
Tmem131l A T 3: 83,845,459 (GRCm39) D390E probably benign Het
Trim33 T A 3: 103,228,979 (GRCm39) probably null Het
Usp54 A G 14: 20,611,678 (GRCm39) V1046A probably benign Het
Vit G A 17: 78,932,413 (GRCm39) G507R probably damaging Het
Vmn2r59 A G 7: 41,695,590 (GRCm39) I274T probably damaging Het
Vmn2r67 T A 7: 84,804,917 (GRCm39) K65M possibly damaging Het
Vmn2r86 C T 10: 130,282,567 (GRCm39) G683E possibly damaging Het
Vwa8 T C 14: 79,335,871 (GRCm39) probably null Het
Zdhhc14 A G 17: 5,781,779 (GRCm39) D333G probably benign 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
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
X0063:Zup1 UTSW 10 33,819,683 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GTTTCTGAGACATAGACAAGAAACC -3'
(R):5'- ACCTGTCTAGATGTGTAAGCACTTTC -3'

Sequencing Primer
(F):5'- TGAGACATAGACAAGAAACCAAAAC -3'
(R):5'- TTGACAAGATGGCTCAGCAGTC -3'
Posted On 2022-05-16