Incidental Mutation 'IGL02413:Mnd1'
ID292327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mnd1
Ensembl Gene ENSMUSG00000033752
Gene Namemeiotic nuclear divisions 1
Synonyms2610034E18Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02413
Quality Score
Status
Chromosome3
Chromosomal Location84087933-84155786 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 84116479 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 100 (H100R)
Ref Sequence ENSEMBL: ENSMUSP00000048262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047368]
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: 20,422,437 probably benign Het
Afap1l1 A G 18: 61,733,789 L733P probably benign Het
Aqr G A 2: 114,118,780 A979V possibly damaging Het
Axin1 A G 17: 26,188,179 E582G probably benign Het
Catsper1 T C 19: 5,336,236 S166P possibly damaging Het
Cd248 G T 19: 5,070,173 G683V probably damaging Het
Celsr1 G T 15: 86,031,226 Q849K possibly damaging Het
Ctnnal1 C A 4: 56,835,306 V324F probably benign Het
Ctrc C A 4: 141,843,717 V71L possibly damaging Het
Exoc3l C A 8: 105,292,438 D465Y probably damaging Het
Fam205c T C 4: 42,868,549 D358G probably damaging Het
Flna T C X: 74,241,282 E417G probably benign Het
Grm6 T A 11: 50,859,939 V643D probably damaging Het
Inpp4b A G 8: 82,033,171 Y615C probably benign Het
Itga3 T C 11: 95,068,771 Y92C probably damaging Het
Jak3 T C 8: 71,686,119 probably null Het
Kcnh6 T A 11: 106,027,634 I823N possibly damaging Het
Klhl38 A T 15: 58,323,021 V104D probably damaging Het
Lpo C T 11: 87,806,906 V692M possibly damaging Het
Mterf4 A G 1: 93,302,804 F207L probably damaging Het
Olfr1395 T C 11: 49,148,557 L100P probably damaging Het
Oog3 C A 4: 144,158,151 W405L probably benign Het
Ptpn3 A G 4: 57,205,020 Y714H probably damaging Het
Steap3 T C 1: 120,241,772 Y265C probably damaging Het
Tcl1 C A 12: 105,218,823 E43* probably null Het
Terb1 A G 8: 104,494,868 probably null Het
Tmprss11a T A 5: 86,422,648 I151F possibly damaging Het
Trappc10 T C 10: 78,210,776 R430G probably damaging Het
Usp17le T C 7: 104,769,726 N70D probably benign Het
Vmn1r45 T C 6: 89,933,521 S36G possibly damaging Het
Vsig8 A C 1: 172,560,376 Y11S probably damaging Het
Vwa5b2 T A 16: 20,598,101 L516Q probably damaging Het
Other mutations in Mnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00486:Mnd1 APN 3 84138198 missense possibly damaging 0.95
IGL01355:Mnd1 APN 3 84116477 missense probably benign 0.00
IGL03303:Mnd1 APN 3 84104937 missense probably benign 0.00
trinidad UTSW 3 84134109 missense probably benign 0.30
R0569:Mnd1 UTSW 3 84104979 missense probably benign 0.36
R1564:Mnd1 UTSW 3 84116431 missense probably benign 0.41
R2208:Mnd1 UTSW 3 84134109 missense probably benign 0.30
R2211:Mnd1 UTSW 3 84134109 missense probably benign 0.30
R2964:Mnd1 UTSW 3 84134109 missense probably benign 0.30
R2965:Mnd1 UTSW 3 84134109 missense probably benign 0.30
R3106:Mnd1 UTSW 3 84134109 missense probably benign 0.30
R5496:Mnd1 UTSW 3 84088174 missense probably damaging 1.00
R6319:Mnd1 UTSW 3 84141764 missense possibly damaging 0.95
RF027:Mnd1 UTSW 3 84134059 missense possibly damaging 0.95
X0026:Mnd1 UTSW 3 84093558 missense probably damaging 1.00
Posted On2015-04-16