Incidental Mutation 'R3731:Zer1'
ID 270962
Institutional Source Beutler Lab
Gene Symbol Zer1
Ensembl Gene ENSMUSG00000039686
Gene Name zyg-11 related, cell cycle regulator
Synonyms Zyg11bl, C230075L19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R3731 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 29987295-30014597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30000923 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 166 (V166A)
Ref Sequence ENSEMBL: ENSMUSP00000109307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044751] [ENSMUST00000113677]
AlphaFold Q80ZJ6
Predicted Effect probably benign
Transcript: ENSMUST00000044751
AA Change: V166A

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000046441
Gene: ENSMUSG00000039686
AA Change: V166A

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 benign
Transcript: ENSMUST00000113677
AA Change: V166A

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109307
Gene: ENSMUSG00000039686
AA Change: V166A

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 noncoding transcript
Transcript: ENSMUST00000131858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139128
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149818
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154231
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630010A05Rik T A 16: 14,427,485 (GRCm39) probably null Het
Abcc5 A T 16: 20,217,684 (GRCm39) Y5* probably null Het
Acbd6 T A 1: 155,434,471 (GRCm39) S30T probably benign Het
Adar T C 3: 89,653,962 (GRCm39) I325T probably damaging Het
Akap13 T C 7: 75,261,125 (GRCm39) S92P probably benign Het
Atp1a4 A T 1: 172,061,528 (GRCm39) V771E probably damaging Het
Cfh A G 1: 140,047,708 (GRCm39) S492P possibly damaging Het
Crlf1 A G 8: 70,952,092 (GRCm39) T95A probably benign Het
Dennd2d T G 3: 106,407,271 (GRCm39) F441V probably damaging Het
Dhx33 T C 11: 70,879,978 (GRCm39) D344G probably benign Het
Disp3 A G 4: 148,337,284 (GRCm39) S844P probably benign Het
Dock2 T C 11: 34,599,722 (GRCm39) K286E probably damaging Het
Fam228a T C 12: 4,768,671 (GRCm39) E203G probably benign Het
Fbxo38 GTGCTGCTGCTGCTGCTGCTGC GTGCTGCTGCTGCTGCTGC 18: 62,648,399 (GRCm39) probably benign Het
Frmpd4 G A X: 166,269,803 (GRCm39) T493M probably damaging Het
Galnt13 A G 2: 54,823,519 (GRCm39) N365S possibly damaging Het
Hrob A G 11: 102,148,732 (GRCm39) E381G possibly damaging Het
Ighv1-19 C A 12: 114,672,497 (GRCm39) C40F probably damaging Het
Ints4 A G 7: 97,155,308 (GRCm39) Q320R probably benign Het
Kctd5 T C 17: 24,278,212 (GRCm39) D146G probably benign Het
Loxl3 T C 6: 83,027,652 (GRCm39) probably null Het
Lrp2 G A 2: 69,294,923 (GRCm39) P3465L probably damaging Het
Lrp2 A T 2: 69,365,251 (GRCm39) probably null Het
Manba G A 3: 135,260,611 (GRCm39) V599I probably benign Het
Mbd6 A G 10: 127,121,637 (GRCm39) probably benign Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Nepn A T 10: 52,280,110 (GRCm39) N401Y probably damaging Het
Nol10 A T 12: 17,474,674 (GRCm39) K622I probably benign Het
Npas3 T C 12: 53,401,175 (GRCm39) I40T probably benign Het
Or1e29 T C 11: 73,667,565 (GRCm39) E196G probably benign Het
Or1j19 A T 2: 36,676,578 (GRCm39) I14F possibly damaging Het
Or2d4 T A 7: 106,543,684 (GRCm39) N175Y probably damaging Het
Or4n4b T A 14: 50,535,962 (GRCm39) D268V probably damaging Het
Or5p73 T C 7: 108,064,633 (GRCm39) I34T possibly damaging Het
Or8g33 T A 9: 39,338,365 (GRCm39) M1L probably benign Het
Phtf1 A G 3: 103,893,095 (GRCm39) M120V probably benign Het
Plxna2 A G 1: 194,471,193 (GRCm39) Y988C probably benign Het
Rgs12 G A 5: 35,189,595 (GRCm39) E658K probably damaging Het
Ripor3 C G 2: 167,834,739 (GRCm39) E251Q probably damaging Het
Sec24b T C 3: 129,827,482 (GRCm39) K203R possibly damaging Het
Serpina1d T A 12: 103,734,164 (GRCm39) N47Y possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Sirpb1c T C 3: 15,887,287 (GRCm39) K184R probably damaging Het
Slc16a10 G C 10: 39,932,620 (GRCm39) H314D possibly damaging Het
Upp2 T C 2: 58,645,379 (GRCm39) S41P probably benign Het
Vmn1r10 A G 6: 57,090,719 (GRCm39) T104A probably damaging Het
Wdhd1 A C 14: 47,485,349 (GRCm39) S838R possibly damaging Het
Zfp217 T C 2: 169,956,308 (GRCm39) N897D probably benign Het
Zfp960 T A 17: 17,308,633 (GRCm39) L449H 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
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
R8239:Zer1 UTSW 2 29,991,147 (GRCm39) critical splice acceptor site probably null
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'- GGATGTGGTCATCTGAAAGGTC -3'
(R):5'- GAGCTCTACCTGACCAACTG -3'

Sequencing Primer
(F):5'- CATCTGAAAGGTCCATGTTGTAGAGC -3'
(R):5'- TCTACCTGACCAACTGCGAGAAG -3'
Posted On 2015-03-18