Incidental Mutation 'IGL00486:Mnd1'
| ID |
6859 |
| 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)
|
| Stock # |
IGL00486
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
83995240-84063084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84045505 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 33
(E33G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047368]
|
| AlphaFold |
Q8K396 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047368
AA Change: E33G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048262
Gene: ENSMUSG00000033752
AA Change: E33G
| Domain | Start | End | E-Value | Type |
|---|
|
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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,076 (GRCm39) |
T576A |
probably damaging |
Het |
| As3mt |
A |
G |
19: 46,708,864 (GRCm39) |
E286G |
probably benign |
Het |
| Baiap3 |
G |
T |
17: 25,467,351 (GRCm39) |
|
probably benign |
Het |
| C1qc |
T |
C |
4: 136,617,445 (GRCm39) |
E217G |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,662,021 (GRCm39) |
Y388H |
probably damaging |
Het |
| Clcn7 |
C |
A |
17: 25,370,097 (GRCm39) |
A328D |
probably damaging |
Het |
| Clstn1 |
G |
A |
4: 149,719,700 (GRCm39) |
R415Q |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,336 (GRCm39) |
S966P |
unknown |
Het |
| Heph |
A |
T |
X: 95,571,284 (GRCm39) |
D748V |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,383,402 (GRCm39) |
T3691I |
probably benign |
Het |
| Hsd17b14 |
A |
G |
7: 45,216,137 (GRCm39) |
T236A |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,530,081 (GRCm39) |
L693F |
probably damaging |
Het |
| Nbas |
T |
G |
12: 13,503,076 (GRCm39) |
D1520E |
probably benign |
Het |
| Poli |
C |
T |
18: 70,658,561 (GRCm39) |
G81R |
probably damaging |
Het |
| Pou6f2 |
G |
A |
13: 18,314,170 (GRCm39) |
S401F |
probably damaging |
Het |
| Ppp1r3c |
G |
A |
19: 36,711,324 (GRCm39) |
R149W |
probably damaging |
Het |
| Ptprc |
C |
A |
1: 138,043,359 (GRCm39) |
C64F |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,973,053 (GRCm39) |
Y274H |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,313,434 (GRCm39) |
L1385I |
probably benign |
Het |
| Sgms1 |
A |
T |
19: 32,137,025 (GRCm39) |
F180L |
probably damaging |
Het |
| Slc7a9 |
T |
A |
7: 35,160,312 (GRCm39) |
M396K |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tnxb |
T |
C |
17: 34,911,356 (GRCm39) |
L1553P |
probably damaging |
Het |
| Trim31 |
C |
A |
17: 37,220,133 (GRCm39) |
Q350K |
probably benign |
Het |
| Wnk3 |
A |
G |
X: 150,016,025 (GRCm39) |
R494G |
probably damaging |
Het |
| Zmym6 |
A |
G |
4: 127,017,978 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01355:Mnd1
|
APN |
3 |
84,023,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02413:Mnd1
|
APN |
3 |
84,023,786 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-04-20 |
Incidental Mutation