Incidental Mutation 'R8239:Zer1'
ID 637486
Institutional Source Beutler Lab
Gene Symbol Zer1
Ensembl Gene ENSMUSG00000039686
Gene Name zyg-11 related, cell cycle regulator
Synonyms Zyg11bl, C230075L19Rik
MMRRC Submission 067646-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.147) question?
Stock # R8239 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 29987295-30014597 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 29991147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000046441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044751] [ENSMUST00000044751] [ENSMUST00000044751] [ENSMUST00000113677] [ENSMUST00000113677] [ENSMUST00000113677]
AlphaFold Q80ZJ6
Predicted Effect probably null
Transcript: ENSMUST00000044751
SMART Domains Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 405 774 3e-15 SMART
Blast:ARM 440 480 2e-18 BLAST
Blast:ARM 524 569 4e-24 BLAST
Blast:ARM 571 613 6e-22 BLAST
Blast:ARM 617 656 7e-8 BLAST
Blast:ARM 686 724 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000044751
SMART Domains Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 405 774 3e-15 SMART
Blast:ARM 440 480 2e-18 BLAST
Blast:ARM 524 569 4e-24 BLAST
Blast:ARM 571 613 6e-22 BLAST
Blast:ARM 617 656 7e-8 BLAST
Blast:ARM 686 724 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000044751
SMART Domains Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 405 774 3e-15 SMART
Blast:ARM 440 480 2e-18 BLAST
Blast:ARM 524 569 4e-24 BLAST
Blast:ARM 571 613 6e-22 BLAST
Blast:ARM 617 656 7e-8 BLAST
Blast:ARM 686 724 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000113677
SMART Domains Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 392 761 3e-15 SMART
Blast:ARM 427 467 2e-18 BLAST
Blast:ARM 511 556 4e-24 BLAST
Blast:ARM 558 600 2e-21 BLAST
Blast:ARM 604 643 7e-8 BLAST
Blast:ARM 673 711 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000113677
SMART Domains Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 392 761 3e-15 SMART
Blast:ARM 427 467 2e-18 BLAST
Blast:ARM 511 556 4e-24 BLAST
Blast:ARM 558 600 2e-21 BLAST
Blast:ARM 604 643 7e-8 BLAST
Blast:ARM 673 711 6e-18 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000113677
SMART Domains Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686

DomainStartEndE-ValueType
SCOP:d1jdha_ 392 761 3e-15 SMART
Blast:ARM 427 467 2e-18 BLAST
Blast:ARM 511 556 4e-24 BLAST
Blast:ARM 558 600 2e-21 BLAST
Blast:ARM 604 643 7e-8 BLAST
Blast:ARM 673 711 6e-18 BLAST
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.5%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of an E3 ubiquitin ligase complex that may be involved in meiosis. The encoded protein contains three leucine-rich repeat motifs. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 T C 8: 41,278,106 (GRCm39) S166P probably damaging Het
Appl1 T A 14: 26,686,914 (GRCm39) T19S probably damaging Het
Arid4b T A 13: 14,344,594 (GRCm39) D557E probably benign Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
C2cd2l T C 9: 44,227,502 (GRCm39) E307G possibly damaging Het
Cdh20 A C 1: 110,027,832 (GRCm39) T526P probably benign Het
Dchs1 C T 7: 105,414,718 (GRCm39) V775M probably benign Het
Dennd1b A G 1: 138,969,673 (GRCm39) N63S probably benign Het
Dtnb A T 12: 3,694,056 (GRCm39) Y248F unknown Het
Ehbp1l1 T A 19: 5,770,089 (GRCm39) T405S possibly damaging Het
Fam149a A G 8: 45,803,490 (GRCm39) Y415H possibly damaging Het
Fam186a A G 15: 99,839,191 (GRCm39) L2351P unknown Het
Fsip2 T G 2: 82,819,687 (GRCm39) I5140S possibly damaging Het
Gm8674 T C 13: 50,054,262 (GRCm39) T749A noncoding transcript Het
Kalrn A G 16: 33,870,153 (GRCm39) V1894A noncoding transcript Het
Kpna3 A T 14: 61,624,919 (GRCm39) N141K probably damaging Het
Lrba G A 3: 86,449,882 (GRCm39) G2067D probably damaging Het
Lrp2 G T 2: 69,311,611 (GRCm39) Y2622* probably null Het
Lrtm2 A C 6: 119,297,778 (GRCm39) F88V probably damaging Het
Mboat1 T C 13: 30,429,333 (GRCm39) S454P probably damaging Het
Nkpd1 C T 7: 19,253,753 (GRCm39) P40S probably benign Het
Or2b7 T C 13: 21,739,788 (GRCm39) I135V probably benign Het
Or4a76 T A 2: 89,460,907 (GRCm39) I112F probably damaging Het
Or8b54 G A 9: 38,686,577 (GRCm39) V9M noncoding transcript Het
Or8k27 C A 2: 86,275,473 (GRCm39) M284I noncoding transcript Het
Patj A G 4: 98,570,308 (GRCm39) E1711G possibly damaging Het
Pcdha4 A T 18: 37,086,128 (GRCm39) I104F probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plekhg4 C T 8: 106,107,546 (GRCm39) R990* probably null Het
Pphln1 T C 15: 93,386,930 (GRCm39) S343P probably benign Het
Pram1 A T 17: 33,860,241 (GRCm39) K269N probably damaging Het
Psmd13 T A 7: 140,466,450 (GRCm39) I79K probably damaging Het
Ptprf T C 4: 118,069,309 (GRCm39) D1586G possibly damaging Het
Ptprh T A 7: 4,584,090 (GRCm39) Q167H probably damaging Het
Rbm46 C T 3: 82,772,775 (GRCm39) R119Q probably benign Het
Rreb1 T C 13: 38,077,848 (GRCm39) M20T probably damaging Het
Scrn2 T G 11: 96,923,046 (GRCm39) L163R probably damaging Het
Slc36a3 C T 11: 55,022,433 (GRCm39) V254I probably benign Het
Slc6a6 T C 6: 91,701,951 (GRCm39) F120L probably benign Het
Slc8a2 A T 7: 15,879,230 (GRCm39) H572L probably benign Het
Spats2 T A 15: 99,106,776 (GRCm39) D357E probably damaging Het
Speg A T 1: 75,395,677 (GRCm39) N1816I probably damaging Het
Sult2b1 A G 7: 45,433,361 (GRCm39) V2A unknown Het
Susd3 T C 13: 49,384,731 (GRCm39) T231A probably benign Het
Tamalin C T 15: 101,128,902 (GRCm39) L217F probably damaging Het
Tcp1 A G 17: 13,139,738 (GRCm39) D261G probably benign Het
Trpm2 C G 10: 77,771,836 (GRCm39) S601T probably benign Het
Ugt2b38 A T 5: 87,571,659 (GRCm39) F124L probably benign Het
Unc80 G T 1: 66,693,178 (GRCm39) E2522D probably benign Het
Usp34 A G 11: 23,396,750 (GRCm39) T2365A Het
Vmn2r92 G T 17: 18,405,278 (GRCm39) M807I probably benign Het
Vps13b C A 15: 35,597,550 (GRCm39) P1030Q probably damaging Het
Wrn T G 8: 33,819,213 (GRCm39) K246N probably damaging Het
Other mutations in Zer1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01098:Zer1 APN 2 29,998,232 (GRCm39) critical splice donor site probably null
IGL01630:Zer1 APN 2 29,991,843 (GRCm39) missense probably damaging 1.00
IGL02126:Zer1 APN 2 29,994,928 (GRCm39) missense probably benign 0.10
IGL02338:Zer1 APN 2 30,003,405 (GRCm39) missense probably damaging 1.00
IGL02817:Zer1 APN 2 29,993,406 (GRCm39) missense probably damaging 0.99
PIT4402001:Zer1 UTSW 2 29,991,132 (GRCm39) missense probably damaging 0.96
PIT4495001:Zer1 UTSW 2 29,993,555 (GRCm39) missense probably benign 0.01
R0390:Zer1 UTSW 2 29,998,225 (GRCm39) splice site probably benign
R0506:Zer1 UTSW 2 29,991,819 (GRCm39) missense probably damaging 1.00
R0606:Zer1 UTSW 2 29,994,809 (GRCm39) splice site probably benign
R0928:Zer1 UTSW 2 29,991,775 (GRCm39) critical splice donor site probably null
R1167:Zer1 UTSW 2 29,998,258 (GRCm39) missense probably benign 0.00
R1819:Zer1 UTSW 2 30,000,230 (GRCm39) missense probably benign 0.18
R2040:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2041:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2042:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2092:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2168:Zer1 UTSW 2 29,994,887 (GRCm39) missense probably damaging 1.00
R2243:Zer1 UTSW 2 29,991,139 (GRCm39) missense probably damaging 0.99
R2254:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2255:Zer1 UTSW 2 29,998,286 (GRCm39) missense probably damaging 1.00
R2311:Zer1 UTSW 2 29,991,834 (GRCm39) missense probably damaging 0.99
R2993:Zer1 UTSW 2 29,991,909 (GRCm39) missense probably damaging 1.00
R3010:Zer1 UTSW 2 30,003,297 (GRCm39) missense probably benign 0.13
R3731:Zer1 UTSW 2 30,000,923 (GRCm39) missense probably benign 0.44
R4038:Zer1 UTSW 2 29,997,535 (GRCm39) missense probably damaging 1.00
R5241:Zer1 UTSW 2 29,994,982 (GRCm39) missense probably damaging 1.00
R5433:Zer1 UTSW 2 29,990,998 (GRCm39) intron probably benign
R5443:Zer1 UTSW 2 30,001,008 (GRCm39) missense probably damaging 1.00
R5524:Zer1 UTSW 2 29,994,866 (GRCm39) missense probably damaging 1.00
R5936:Zer1 UTSW 2 29,997,679 (GRCm39) missense probably damaging 0.97
R5999:Zer1 UTSW 2 29,995,009 (GRCm39) missense probably damaging 1.00
R6598:Zer1 UTSW 2 30,003,286 (GRCm39) missense probably damaging 1.00
R6965:Zer1 UTSW 2 29,991,059 (GRCm39) missense possibly damaging 0.87
R7030:Zer1 UTSW 2 30,001,033 (GRCm39) missense probably benign 0.00
R7190:Zer1 UTSW 2 29,993,444 (GRCm39) missense probably damaging 1.00
R7218:Zer1 UTSW 2 29,995,024 (GRCm39) missense probably damaging 1.00
R7252:Zer1 UTSW 2 29,991,904 (GRCm39) missense probably damaging 0.99
R7383:Zer1 UTSW 2 30,001,253 (GRCm39) missense probably damaging 1.00
R7417:Zer1 UTSW 2 29,992,834 (GRCm39) missense probably damaging 1.00
R7459:Zer1 UTSW 2 30,003,337 (GRCm39) missense probably damaging 1.00
R7463:Zer1 UTSW 2 30,003,449 (GRCm39) start gained probably benign
R7466:Zer1 UTSW 2 29,991,496 (GRCm39) splice site probably null
R7477:Zer1 UTSW 2 29,997,988 (GRCm39) missense probably null 0.34
R7719:Zer1 UTSW 2 30,001,243 (GRCm39) missense probably damaging 1.00
R7813:Zer1 UTSW 2 30,000,385 (GRCm39) missense probably damaging 1.00
R7976:Zer1 UTSW 2 29,997,520 (GRCm39) missense probably damaging 0.99
R8350:Zer1 UTSW 2 29,991,862 (GRCm39) missense probably damaging 1.00
R8404:Zer1 UTSW 2 29,995,035 (GRCm39) critical splice acceptor site probably null
R8842:Zer1 UTSW 2 30,001,062 (GRCm39) missense possibly damaging 0.65
R8896:Zer1 UTSW 2 29,993,430 (GRCm39) missense probably damaging 0.99
R8906:Zer1 UTSW 2 30,001,035 (GRCm39) missense probably benign 0.31
R8929:Zer1 UTSW 2 30,000,881 (GRCm39) missense probably damaging 1.00
R9050:Zer1 UTSW 2 30,001,294 (GRCm39) missense probably damaging 1.00
R9066:Zer1 UTSW 2 30,000,686 (GRCm39) missense probably damaging 1.00
R9277:Zer1 UTSW 2 30,001,297 (GRCm39) missense probably benign 0.00
R9322:Zer1 UTSW 2 30,000,923 (GRCm39) missense probably benign 0.00
R9577:Zer1 UTSW 2 29,991,050 (GRCm39) missense probably damaging 1.00
R9733:Zer1 UTSW 2 29,997,643 (GRCm39) missense probably benign 0.00
X0026:Zer1 UTSW 2 29,994,907 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GCCAACAGTAAATCCCTGTGTG -3'
(R):5'- AAGGCTCCCTTCCTTACCAG -3'

Sequencing Primer
(F):5'- AGTAAATCCCTGTGTGCCAGC -3'
(R):5'- GGTTACCAAGACCCTAGCTTTCTG -3'
Posted On 2020-07-13