Incidental Mutation 'R4243:Zar1'
ID 320291
Institutional Source Beutler Lab
Gene Symbol Zar1
Ensembl Gene ENSMUSG00000063935
Gene Name zygote arrest 1
Synonyms
MMRRC Submission 041643-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4243 (G1)
Quality Score 174
Status Validated
Chromosome 5
Chromosomal Location 72734456-72738707 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72737736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 121 (E121G)
Ref Sequence ENSEMBL: ENSMUSP00000144079 (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 benign
Transcript: ENSMUST00000073528
AA Change: E222G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000073221
Gene: ENSMUSG00000063935
AA Change: E222G

DomainStartEndE-ValueType
zf-3CxxC 262 347 5.2e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200883
Predicted Effect possibly damaging
Transcript: ENSMUST00000202174
AA Change: E121G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
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
1500011B03Rik C A 5: 114,951,855 (GRCm39) R40L possibly damaging Het
4930449A18Rik T A 3: 59,733,203 (GRCm39) noncoding transcript Het
4930578I06Rik C T 14: 64,210,658 (GRCm39) R190H probably benign Het
4933409G03Rik C T 2: 68,423,887 (GRCm39) probably benign Het
Actr1b T C 1: 36,740,911 (GRCm39) Y171C possibly damaging Het
Birc2 T C 9: 7,834,386 (GRCm39) T32A probably benign Het
Cdh13 T A 8: 119,968,996 (GRCm39) V451E probably damaging Het
Cdh20 C T 1: 104,869,868 (GRCm39) T196I probably damaging Het
Cdt1 A G 8: 123,298,157 (GRCm39) M383V probably benign Het
Chrna9 T C 5: 66,092,379 (GRCm39) probably null Het
Cpne9 C T 6: 113,259,984 (GRCm39) probably benign Het
Cspg4 T C 9: 56,795,141 (GRCm39) S959P probably benign Het
Ctbp2 A G 7: 132,600,583 (GRCm39) I647T probably benign Het
Cyld A T 8: 89,457,383 (GRCm39) R536* probably null Het
Ddx1 A T 12: 13,290,910 (GRCm39) C68* probably null Het
Dock10 T A 1: 80,544,472 (GRCm39) E905V probably benign Het
Dynlt1b T C 17: 6,697,639 (GRCm39) probably null Het
Faxc G A 4: 21,982,491 (GRCm39) R310Q probably benign Het
Fhdc1 C A 3: 84,352,133 (GRCm39) V1031F probably benign Het
Frmd5 C A 2: 121,393,363 (GRCm39) probably null Het
Gm5174 C A 10: 86,492,144 (GRCm39) noncoding transcript Het
Hspa12b C T 2: 130,983,778 (GRCm39) H293Y possibly damaging Het
Jakmip2 A G 18: 43,710,501 (GRCm39) V234A probably benign Het
Jkamp G A 12: 72,140,799 (GRCm39) V108I probably benign Het
Mettl23 T C 11: 116,739,126 (GRCm39) V72A possibly damaging Het
Morc2b T A 17: 33,355,375 (GRCm39) Y799F probably benign Het
Mtmr11 T A 3: 96,075,393 (GRCm39) C358S probably damaging Het
Myo18b G A 5: 112,840,261 (GRCm39) H2511Y possibly damaging Het
Mysm1 A G 4: 94,857,248 (GRCm39) V120A probably benign Het
Nhlrc1 C T 13: 47,167,502 (GRCm39) V252I probably benign Het
Or12j3 G A 7: 139,952,857 (GRCm39) A222V probably benign Het
Or2ak6 T G 11: 58,593,277 (GRCm39) L250R probably damaging Het
Or7g35 C A 9: 19,495,854 (GRCm39) T7K probably damaging Het
Pard3 G A 8: 128,098,128 (GRCm39) A390T probably benign Het
Pcdhga1 T A 18: 37,796,605 (GRCm39) D536E probably damaging Het
Phactr3 G A 2: 177,924,982 (GRCm39) probably null Het
Pkn2 T C 3: 142,526,339 (GRCm39) N413D possibly damaging Het
Ppp1r12b T G 1: 134,709,846 (GRCm39) probably benign Het
Ptprf A G 4: 118,083,649 (GRCm39) probably null Het
Rab3gap1 T C 1: 127,865,304 (GRCm39) probably null Het
Rasa1 A G 13: 85,392,314 (GRCm39) Y407H probably damaging Het
Rfx7 A G 9: 72,499,051 (GRCm39) T72A possibly damaging Het
Slc27a1 A G 8: 72,037,617 (GRCm39) T535A probably benign Het
Stra6 G A 9: 58,050,309 (GRCm39) A237T probably benign Het
Tor1aip2 A G 1: 155,941,182 (GRCm39) E496G probably damaging Het
Usp47 A G 7: 111,707,836 (GRCm39) D1294G probably damaging Het
Utp20 A G 10: 88,643,187 (GRCm39) probably null Het
Vmn1r79 T A 7: 11,910,971 (GRCm39) C284* probably null Het
Zbtb40 C T 4: 136,745,860 (GRCm39) A58T probably benign Het
Zfhx3 A G 8: 109,518,952 (GRCm39) T25A 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
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
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'- CCAGCTTAGCCCTGAAGGAG -3'
(R):5'- TCGTCCGTGACCTTCTGTGG -3'

Sequencing Primer
(F):5'- CTGAAGGAGCCCTACAATTCTGG -3'
(R):5'- CTCACTGGAGGTTGCGG -3'
Posted On 2015-06-12