Incidental Mutation 'RF027:Mnd1'
| ID |
604184 |
| Institutional Source |
Beutler Lab
|
| 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 # |
RF027 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
83995240-84063084 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 84041366 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 79
(L79F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048262
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047368]
|
| AlphaFold |
Q8K396 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047368
AA Change: L79F
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000048262
Gene: ENSMUSG00000033752
AA Change: L79F
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Blm |
CCTCCTCCTCCTC |
CCTCCTCCTCCTCTCCTCCTCCTC |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
| Cacna1f |
GAG |
GAGTAG |
X: 7,486,293 (GRCm39) |
|
probably null |
Het |
| Ccdc170 |
ACC |
ACCTCC |
10: 4,511,026 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
CTTC |
CTTCTTC |
17: 46,811,774 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
AGACACACTGCCCAGG |
AGACACACTGCCCAGGTATGTGACCGACACACTGCCCAGG |
9: 86,922,484 (GRCm39) |
|
probably benign |
Het |
| Dmkn |
GTGGA |
GTGGACGTGGTGGAAGTGGTGGAAGTGTTGGA |
7: 30,466,619 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
CTC |
CTCGTC |
2: 130,612,664 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
CCCTCCCG |
C |
17: 30,854,450 (GRCm39) |
|
probably null |
Het |
| Fam171b |
AGCAGC |
AGCAGCTGCAGC |
2: 83,643,220 (GRCm39) |
|
probably benign |
Het |
| Flywch1 |
TCACTCACCCACTCCTGGTGT |
TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT |
17: 23,981,132 (GRCm39) |
|
probably null |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,505,262 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
TG |
TGAGCACATGG |
6: 145,119,516 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
CTCCTCCT |
C |
9: 21,192,364 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
CACAGC |
CACAGCCACAGCCACAACAGC |
1: 83,020,006 (GRCm39) |
|
probably benign |
Het |
| Loricrin |
ATAGCCG |
A |
3: 91,989,183 (GRCm39) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCGGC |
3: 59,183,388 (GRCm39) |
|
probably benign |
Het |
| Med12l |
CAG |
CAGAAG |
3: 59,183,402 (GRCm39) |
|
probably benign |
Het |
| Mn1 |
CAG |
CAGAAG |
5: 111,567,571 (GRCm39) |
|
probably benign |
Het |
| Nolc1 |
AGCAGCAGC |
AGCAGCAGCGGCAGCAGC |
19: 46,069,802 (GRCm39) |
|
probably benign |
Het |
| Pdcd11 |
GGAGGAG |
GG |
19: 47,101,888 (GRCm39) |
|
probably null |
Het |
| Rbfox2 |
G |
T |
15: 77,016,973 (GRCm39) |
Q134K |
possibly damaging |
Het |
| Tcof1 |
AGC |
AGCTGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
| Tent4a |
GACA |
G |
13: 69,681,973 (GRCm39) |
|
probably benign |
Het |
| Ttf2 |
TTCT |
TTCTTCT |
3: 100,870,473 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Vmn2r58 |
CAAAATGATGTAGCACTT |
C |
7: 41,486,383 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
CAGCAGCA |
CAGCAGCAAGAGCAGCA |
8: 109,682,730 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
CCCAGGC |
CCCAGGCCCAGGACCAGGC |
6: 125,013,453 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Mnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
X0026:Mnd1
|
UTSW |
3 |
84,000,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTAATTTCCTTTAGGCGTTGAG -3'
(R):5'- CACACCTAGATGCCTAGCTC -3'
Sequencing Primer
(F):5'- CGTTGAGCCCAAATAAGAATGTATG -3'
(R):5'- GATGCCTAGCTCTTACTTGTAATG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation