Incidental Mutation 'IGL02413:Mnd1'
ID 292327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mnd1
Ensembl Gene ENSMUSG00000033752
Gene Name meiotic nuclear divisions 1
Synonyms 2610034E18Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02413
Quality Score
Status
Chromosome 3
Chromosomal Location 83995240-84063084 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 84023786 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 100 (H100R)
Ref Sequence ENSEMBL: ENSMUSP00000048262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047368]
AlphaFold Q8K396
Predicted Effect probably benign
Transcript: ENSMUST00000047368
AA Change: H100R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048262
Gene: ENSMUSG00000033752
AA Change: H100R

DomainStartEndE-ValueType
Pfam:Penicillinase_R 10 129 6.9e-8 PFAM
Pfam:Mnd1 16 202 1.7e-76 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of the MND1 gene associates with HOP2 (MIM 608665) to form a stable heterodimeric complex that binds DNA and stimulates the recombinase activity of RAD51 (MIM 179617) and DMC1 (MIM 602721) (Chi et al., 2007 [PubMed 17639080]). Both the MND1 and HOP2 genes are indispensable for meiotic recombination.[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutants for this allele display defects in homologous chromosome synapsis and double-strand break repair. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 C A 16: 20,241,187 (GRCm39) probably benign Het
Afap1l1 A G 18: 61,866,860 (GRCm39) L733P probably benign Het
Aqr G A 2: 113,949,261 (GRCm39) A979V possibly damaging Het
Axin1 A G 17: 26,407,153 (GRCm39) E582G probably benign Het
Catsper1 T C 19: 5,386,264 (GRCm39) S166P possibly damaging Het
Cd248 G T 19: 5,120,201 (GRCm39) G683V probably damaging Het
Celsr1 G T 15: 85,915,427 (GRCm39) Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 (GRCm39) V324F probably benign Het
Ctrc C A 4: 141,571,028 (GRCm39) V71L possibly damaging Het
Exoc3l C A 8: 106,019,070 (GRCm39) D465Y probably damaging Het
Flna T C X: 73,284,888 (GRCm39) E417G probably benign Het
Grm6 T A 11: 50,750,766 (GRCm39) V643D probably damaging Het
Inpp4b A G 8: 82,759,800 (GRCm39) Y615C probably benign Het
Itga3 T C 11: 94,959,597 (GRCm39) Y92C probably damaging Het
Jak3 T C 8: 72,138,763 (GRCm39) probably null Het
Kcnh6 T A 11: 105,918,460 (GRCm39) I823N possibly damaging Het
Klhl38 A T 15: 58,186,417 (GRCm39) V104D probably damaging Het
Lpo C T 11: 87,697,732 (GRCm39) V692M possibly damaging Het
Mterf4 A G 1: 93,230,526 (GRCm39) F207L probably damaging Het
Oog3 C A 4: 143,884,721 (GRCm39) W405L probably benign Het
Or2t26 T C 11: 49,039,384 (GRCm39) L100P probably damaging Het
Ptpn3 A G 4: 57,205,020 (GRCm39) Y714H probably damaging Het
Spata31f3 T C 4: 42,868,549 (GRCm39) D358G probably damaging Het
Steap3 T C 1: 120,169,502 (GRCm39) Y265C probably damaging Het
Tcl1 C A 12: 105,185,082 (GRCm39) E43* probably null Het
Terb1 A G 8: 105,221,500 (GRCm39) probably null Het
Tmprss11a T A 5: 86,570,507 (GRCm39) I151F possibly damaging Het
Trappc10 T C 10: 78,046,610 (GRCm39) R430G probably damaging Het
Usp17le T C 7: 104,418,933 (GRCm39) N70D probably benign Het
Vmn1r45 T C 6: 89,910,503 (GRCm39) S36G possibly damaging Het
Vsig8 A C 1: 172,387,943 (GRCm39) Y11S probably damaging Het
Vwa5b2 T A 16: 20,416,851 (GRCm39) L516Q probably damaging Het
Other mutations in Mnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Mnd1 APN 3 84,045,505 (GRCm39) missense possibly damaging 0.95
IGL01355:Mnd1 APN 3 84,023,784 (GRCm39) missense probably benign 0.00
IGL03303:Mnd1 APN 3 84,012,244 (GRCm39) missense probably benign 0.00
trinidad UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R0569:Mnd1 UTSW 3 84,012,286 (GRCm39) missense probably benign 0.36
R1564:Mnd1 UTSW 3 84,023,738 (GRCm39) missense probably benign 0.41
R2208:Mnd1 UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R2211:Mnd1 UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R2964:Mnd1 UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R2965:Mnd1 UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R3106:Mnd1 UTSW 3 84,041,416 (GRCm39) missense probably benign 0.30
R5496:Mnd1 UTSW 3 83,995,481 (GRCm39) missense probably damaging 1.00
R6319:Mnd1 UTSW 3 84,049,071 (GRCm39) missense possibly damaging 0.95
R8805:Mnd1 UTSW 3 83,995,432 (GRCm39) missense probably benign 0.13
RF027:Mnd1 UTSW 3 84,041,366 (GRCm39) missense possibly damaging 0.95
X0026:Mnd1 UTSW 3 84,000,865 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16