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 |