Incidental Mutation 'R7331:Zar1'
ID 569231
Institutional Source Beutler Lab
Gene Symbol Zar1
Ensembl Gene ENSMUSG00000063935
Gene Name zygote arrest 1
Synonyms
MMRRC Submission 045424-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7331 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 72734456-72738707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72737655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 249 (E249V)
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 possibly damaging
Transcript: ENSMUST00000073528
AA Change: E249V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073221
Gene: ENSMUSG00000063935
AA Change: E249V

DomainStartEndE-ValueType
zf-3CxxC 262 347 5.2e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000202174
AA Change: E148V

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
Meta Mutation Damage Score 0.0895 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (48/48)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,331,728 (GRCm39) H47L possibly damaging Het
Adgrf5 T C 17: 43,748,484 (GRCm39) S438P probably damaging Het
Atg16l2 C A 7: 100,948,255 (GRCm39) K96N probably damaging Het
Bglap2 A T 3: 88,285,567 (GRCm39) M35K possibly damaging Het
Btbd1 T A 7: 81,465,720 (GRCm39) I209L probably damaging Het
Cdc34 T C 10: 79,521,146 (GRCm39) Y148H probably damaging Het
Clcc1 A G 3: 108,575,394 (GRCm39) D157G probably damaging Het
Csmd2 A T 4: 128,458,021 (GRCm39) probably null Het
Ctsj G A 13: 61,151,645 (GRCm39) S90L probably benign Het
Cycs A G 6: 50,542,532 (GRCm39) F37L probably benign Het
Dync2li1 T A 17: 84,955,086 (GRCm39) C248* probably null Het
Dzank1 A T 2: 144,332,190 (GRCm39) I382N probably benign Het
Eif4a3l2 G A 6: 116,529,130 (GRCm39) V336I probably benign Het
Enpp2 T C 15: 54,739,066 (GRCm39) I406V probably damaging Het
Ero1b A G 13: 12,615,015 (GRCm39) E282G probably damaging Het
Fastkd5 A T 2: 130,457,647 (GRCm39) N314K possibly damaging Het
Fbh1 A T 2: 11,768,797 (GRCm39) C300S probably benign Het
Fchsd1 T C 18: 38,101,823 (GRCm39) I49V possibly damaging Het
Foxn1 A G 11: 78,249,615 (GRCm39) Y637H probably damaging Het
Gabarap A G 11: 69,885,298 (GRCm39) E101G possibly damaging Het
Gm7247 A G 14: 51,601,792 (GRCm39) R22G probably damaging Het
Gm7694 A T 1: 170,129,180 (GRCm39) D116E possibly damaging Het
Gm9508 A G 10: 77,532,629 (GRCm39) C147R unknown Het
Gpr152 A G 19: 4,192,608 (GRCm39) M50V probably damaging Het
Hunk T A 16: 90,269,450 (GRCm39) N331K possibly damaging Het
Il1r2 A G 1: 40,162,409 (GRCm39) T351A probably benign Het
Iqub A G 6: 24,500,393 (GRCm39) V287A possibly damaging Het
Lix1 A T 17: 17,647,474 (GRCm39) T47S probably benign Het
Lrp1b A T 2: 40,553,622 (GRCm39) probably null Het
Nup107 G A 10: 117,606,103 (GRCm39) T500I probably damaging Het
Phf21b G C 15: 84,675,295 (GRCm39) R405G probably benign Het
Piezo2 A G 18: 63,241,101 (GRCm39) V709A probably damaging Het
Psme3ip1 T A 8: 95,309,564 (GRCm39) K143* probably null Het
Rfc1 T C 5: 65,468,387 (GRCm39) T109A probably damaging Het
Rpa1 A G 11: 75,203,941 (GRCm39) V302A probably damaging Het
Ryr2 A G 13: 11,760,517 (GRCm39) I1522T probably benign Het
Ryr3 C A 2: 112,594,010 (GRCm39) R2578L possibly damaging Het
Scgb2b18 C T 7: 32,872,681 (GRCm39) W41* probably null Het
Sdccag8 C G 1: 176,695,856 (GRCm39) Q387E possibly damaging Het
Slc25a17 G A 15: 81,213,346 (GRCm39) T119M probably damaging Het
Slc45a4 G T 15: 73,477,489 (GRCm39) Q16K probably benign Het
Slc4a1 G A 11: 102,252,245 (GRCm39) probably benign Het
Slc7a14 T C 3: 31,311,880 (GRCm39) T47A probably benign Het
Stard6 A G 18: 70,616,553 (GRCm39) R71G probably damaging Het
Tecr A G 8: 84,298,564 (GRCm39) V321A probably damaging Het
Ttc3 T A 16: 94,195,218 (GRCm39) F290L probably benign Het
Uqcc1 A G 2: 155,753,731 (GRCm39) V48A probably benign Het
V1rd19 T A 7: 23,703,308 (GRCm39) I258N probably damaging Het
Zfp101 T C 17: 33,601,559 (GRCm39) T66A possibly damaging Het
Zyx A G 6: 42,328,593 (GRCm39) H230R probably benign 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
R7137:Zar1 UTSW 5 72,738,159 (GRCm39) missense probably damaging 0.99
R7232:Zar1 UTSW 5 72,738,294 (GRCm39) missense possibly damaging 0.80
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'- GCGGCTGCAAAATCCTATATG -3'
(R):5'- TCGTCCGTGACCTTCTGTGG -3'

Sequencing Primer
(F):5'- TCTAGAGGACCGTAATTCCGATC -3'
(R):5'- GGCGATGTTCAGGCTGCAG -3'
Posted On 2019-09-13