Incidental Mutation 'R7137:Zar1'
ID 553118
Institutional Source Beutler Lab
Gene Symbol Zar1
Ensembl Gene ENSMUSG00000063935
Gene Name zygote arrest 1
Synonyms
MMRRC Submission 045248-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7137 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 72734456-72738707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72738159 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 81 (N81I)
Ref Sequence ENSEMBL: ENSMUSP00000073221 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031124] [ENSMUST00000073528] [ENSMUST00000202174]
AlphaFold Q80SU3
Predicted Effect probably benign
Transcript: ENSMUST00000031124
SMART Domains Protein: ENSMUSP00000031124
Gene: ENSMUSG00000060204

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
transmembrane domain 91 113 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000073528
AA Change: N81I

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000073221
Gene: ENSMUSG00000063935
AA Change: N81I

DomainStartEndE-ValueType
zf-3CxxC 262 347 5.2e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202174
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This maternal effect gene is oocyte-specific and encodes a protein that is thought to function in the initiation of embryogenesis. A similar protein in mouse is required for female fertility. [provided by RefSeq, Jul 2013]
PHENOTYPE: Ovarian development and oogenesis are normal in homozygous null females, however they are infertile due to a failure at the oocyte to embryo transition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,654,944 (GRCm39) S1423P possibly damaging Het
Acvr1c A G 2: 58,173,399 (GRCm39) probably null Het
Adgrf5 A G 17: 43,761,788 (GRCm39) K1161R probably damaging Het
Aoc1l3 A G 6: 48,967,083 (GRCm39) Y677C probably damaging Het
Arhgap32 T G 9: 32,063,232 (GRCm39) D80E probably benign Het
Aspg T C 12: 112,078,632 (GRCm39) V30A possibly damaging Het
Bcl2a1d T C 9: 88,613,531 (GRCm39) D81G probably damaging Het
Cep170b T C 12: 112,701,601 (GRCm39) V160A probably benign Het
Ces1c T C 8: 93,857,470 (GRCm39) Y37C probably benign Het
Cntnap5a T C 1: 116,017,106 (GRCm39) L233P probably damaging Het
Crem C A 18: 3,273,459 (GRCm39) A245S possibly damaging Het
Cyp2d12 C T 15: 82,442,022 (GRCm39) A280V probably benign Het
Dnah2 C T 11: 69,382,381 (GRCm39) G1243D probably damaging Het
Eif1ad19 A T 12: 87,740,316 (GRCm39) L81Q possibly damaging Het
Emcn T G 3: 137,109,752 (GRCm39) N131K probably damaging Het
Fat3 A T 9: 15,908,444 (GRCm39) D2519E probably damaging Het
Fibin T A 2: 110,193,001 (GRCm39) D47V probably damaging Het
Fsd1 G A 17: 56,300,876 (GRCm39) R245H probably damaging Het
Gimap8 C A 6: 48,627,187 (GRCm39) L54I probably damaging Het
Gm20481 A G 17: 35,189,071 (GRCm39) Y27C unknown Het
Grin1 T G 2: 25,203,550 (GRCm39) M154L probably benign Het
Ighv8-13 A G 12: 115,729,197 (GRCm39) L20P probably damaging Het
Insc G A 7: 114,410,850 (GRCm39) V236I probably benign Het
Lrrk1 A G 7: 65,935,027 (GRCm39) F1031L probably benign Het
Man2a2 C A 7: 80,009,499 (GRCm39) R785L probably benign Het
Mcur1 C A 13: 43,697,931 (GRCm39) probably null Het
Med12l A C 3: 59,165,675 (GRCm39) R1464S probably damaging Het
Mycbp2 A T 14: 103,520,115 (GRCm39) M767K possibly damaging Het
Naalad2 T C 9: 18,234,783 (GRCm39) I762V probably benign Het
Nfkbid A G 7: 30,125,681 (GRCm39) T357A possibly damaging Het
Pcdh17 A G 14: 84,770,989 (GRCm39) R1156G possibly damaging Het
Pcdhb1 T C 18: 37,400,445 (GRCm39) S799P possibly damaging Het
Pde3a A T 6: 141,444,472 (GRCm39) E1093D probably benign Het
Plcg1 T C 2: 160,595,846 (GRCm39) Y572H possibly damaging Het
Plxna4 A G 6: 32,494,199 (GRCm39) L139P probably damaging Het
Psma1 A G 7: 113,873,683 (GRCm39) Y6H probably damaging Het
Psmd2 A G 16: 20,471,377 (GRCm39) E76G probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Pyy T G 11: 101,998,099 (GRCm39) D27A possibly damaging Het
Slc22a2 A G 17: 12,803,228 (GRCm39) T21A probably benign Het
Slc25a2 T C 18: 37,771,200 (GRCm39) I110V probably benign Het
Sult1c2 A C 17: 54,145,422 (GRCm39) W85G probably damaging Het
Syt12 C T 19: 4,503,978 (GRCm39) D218N probably damaging Het
Tln1 C T 4: 43,540,616 (GRCm39) V1462M probably damaging Het
Tor1aip2 T A 1: 155,927,722 (GRCm39) N33K possibly damaging Het
Usp17lb C A 7: 104,490,798 (GRCm39) W43L probably benign Het
Vmn1r76 A G 7: 11,664,612 (GRCm39) Y201H possibly damaging Het
Wnk1 C A 6: 120,015,173 (GRCm39) probably benign Het
Wrnip1 A G 13: 32,986,732 (GRCm39) D171G probably benign Het
Zbtb45 T C 7: 12,741,083 (GRCm39) T392A probably benign Het
Zfp445 T C 9: 122,683,843 (GRCm39) E272G probably damaging Het
Other mutations in Zar1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Zar1 APN 5 72,734,628 (GRCm39) missense probably damaging 1.00
R0606:Zar1 UTSW 5 72,737,886 (GRCm39) missense probably damaging 1.00
R0674:Zar1 UTSW 5 72,737,643 (GRCm39) splice site probably null
R1752:Zar1 UTSW 5 72,734,715 (GRCm39) missense probably damaging 1.00
R4243:Zar1 UTSW 5 72,737,736 (GRCm39) missense possibly damaging 0.79
R4244:Zar1 UTSW 5 72,737,736 (GRCm39) missense possibly damaging 0.79
R4245:Zar1 UTSW 5 72,737,736 (GRCm39) missense possibly damaging 0.79
R4630:Zar1 UTSW 5 72,738,249 (GRCm39) missense probably benign 0.01
R5186:Zar1 UTSW 5 72,734,742 (GRCm39) missense probably damaging 1.00
R6060:Zar1 UTSW 5 72,738,272 (GRCm39) missense probably benign 0.34
R7232:Zar1 UTSW 5 72,738,294 (GRCm39) missense possibly damaging 0.80
R7331:Zar1 UTSW 5 72,737,655 (GRCm39) missense possibly damaging 0.86
R7694:Zar1 UTSW 5 72,738,193 (GRCm39) missense probably benign 0.00
X0024:Zar1 UTSW 5 72,738,199 (GRCm39) missense probably damaging 1.00
Z1176:Zar1 UTSW 5 72,738,027 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- TCCCAGGCTCAGACTGCATC -3'
(R):5'- GCCTATTTAACGCAGCGTGG -3'

Sequencing Primer
(F):5'- TGCAGCCTGAACATCGC -3'
(R):5'- GGACGCACCCATGTTCC -3'
Posted On 2019-05-15