Incidental Mutation 'R0908:Dmc1'
| ID |
83407 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmc1
|
| Ensembl Gene |
ENSMUSG00000022429 |
| Gene Name |
DNA meiotic recombinase 1 |
| Synonyms |
Mei11, sgdp, Dmc1h, Dmc1 |
| MMRRC Submission |
039066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.687)
|
| Stock # |
R0908 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
79445698-79489310 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 79469890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 189
(L189P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023065]
[ENSMUST00000229408]
[ENSMUST00000230011]
|
| AlphaFold |
Q61880 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023065
AA Change: L189P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023065
Gene: ENSMUSG00000022429
AA Change: L189P
| Domain | Start | End | E-Value | Type |
|---|
|
HhH1
|
57 |
76 |
8.07e0 |
SMART |
|
AAA
|
118 |
307 |
2.79e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229472
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230011
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230121
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins). Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play an important role in generating diversity of genetic information. In mouse, deficiency of this gene causes infertility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Homozygotes for targeted mutations are sterile with failure of homologous pairing in meiotic prophase in males and disrupted oogenesis in embryonic females with absence of germ cells in the adult ovary. [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 |
|---|
| 1110002E22Rik |
T |
A |
3: 137,775,838 (GRCm39) |
F1676I |
probably damaging |
Het |
| Afg2a |
T |
A |
3: 37,485,772 (GRCm39) |
|
probably null |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atp8b3 |
T |
C |
10: 80,355,918 (GRCm39) |
T1265A |
probably benign |
Het |
| Cep112 |
T |
C |
11: 108,555,323 (GRCm39) |
V679A |
possibly damaging |
Het |
| Cts8 |
A |
T |
13: 61,398,730 (GRCm39) |
Y259N |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,558,437 (GRCm39) |
S195P |
probably benign |
Het |
| Dio2 |
A |
T |
12: 90,696,422 (GRCm39) |
C189S |
probably damaging |
Het |
| Ehmt1 |
A |
G |
2: 24,694,900 (GRCm39) |
Y1016H |
probably damaging |
Het |
| Gle1 |
T |
C |
2: 29,826,133 (GRCm39) |
S71P |
probably benign |
Het |
| Gykl1 |
T |
A |
18: 52,828,441 (GRCm39) |
*550K |
probably null |
Het |
| Klhl32 |
T |
C |
4: 24,682,092 (GRCm39) |
D197G |
probably damaging |
Het |
| Krt78 |
G |
A |
15: 101,859,336 (GRCm39) |
T287M |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mrpl1 |
A |
T |
5: 96,409,942 (GRCm39) |
I272L |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Or52e19 |
T |
C |
7: 102,959,780 (GRCm39) |
V284A |
possibly damaging |
Het |
| Or8g23 |
T |
C |
9: 38,971,243 (GRCm39) |
T240A |
probably damaging |
Het |
| Pak3 |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
X: 142,526,889 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
T |
3: 122,572,650 (GRCm39) |
I344L |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,957,717 (GRCm39) |
I241T |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,414,878 (GRCm39) |
E2078G |
probably benign |
Het |
| Scamp3 |
T |
C |
3: 89,086,746 (GRCm39) |
|
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,697 (GRCm39) |
H414R |
probably benign |
Het |
| Spef2 |
T |
A |
15: 9,614,281 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
G |
10: 17,674,925 (GRCm39) |
N26S |
probably damaging |
Het |
| Vmn1r11 |
G |
T |
6: 57,115,049 (GRCm39) |
V201L |
probably damaging |
Het |
|
| Other mutations in Dmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00717:Dmc1
|
APN |
15 |
79,480,481 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02817:Dmc1
|
APN |
15 |
79,472,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Dmc1
|
APN |
15 |
79,452,892 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03341:Dmc1
|
APN |
15 |
79,446,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0129:Dmc1
|
UTSW |
15 |
79,480,441 (GRCm39) |
splice site |
probably benign |
|
|
R0395:Dmc1
|
UTSW |
15 |
79,472,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2219:Dmc1
|
UTSW |
15 |
79,469,327 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R3706:Dmc1
|
UTSW |
15 |
79,446,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Dmc1
|
UTSW |
15 |
79,473,024 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7499:Dmc1
|
UTSW |
15 |
79,486,621 (GRCm39) |
nonsense |
probably null |
|
|
R7619:Dmc1
|
UTSW |
15 |
79,480,443 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8270:Dmc1
|
UTSW |
15 |
79,485,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9783:Dmc1
|
UTSW |
15 |
79,484,296 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACTGCAAACTCTGCTTGACC -3'
(R):5'- GCAGATGCGCTGCTGTTATGTCTC -3'
Sequencing Primer
(F):5'- actacatacctagagtatgagaaacc -3'
(R):5'- CAGTTGCTTTACTTGCTCACAGTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation