Incidental Mutation 'R2340:Rad51d'
| ID |
246717 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51d
|
| Ensembl Gene |
ENSMUSG00000018841 |
| Gene Name |
RAD51 paralog D |
| Synonyms |
Rad51l3, R51H3 |
| MMRRC Submission |
040326-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2340 (G1)
|
| Quality Score |
206 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
82767260-82781440 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82772647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 206
(D206G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018985]
[ENSMUST00000021033]
[ENSMUST00000092844]
[ENSMUST00000100718]
[ENSMUST00000135963]
[ENSMUST00000146053]
|
| AlphaFold |
O55230 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018985
AA Change: D206G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018985
Gene: ENSMUSG00000018841
AA Change: D206G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
83 |
2e-27 |
PDB |
|
AAA
|
99 |
274 |
1.5e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021033
|
| SMART Domains |
Protein: ENSMUSP00000021033
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
64 |
249 |
3e-15 |
PFAM |
|
Pfam:AAA_25
|
69 |
200 |
2e-12 |
PFAM |
|
Pfam:KaiC
|
82 |
148 |
1.4e-10 |
PFAM |
|
Pfam:AAA_19
|
93 |
168 |
6.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000092844
AA Change: D161G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000090520
Gene: ENSMUSG00000018841
AA Change: D161G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
66 |
130 |
2.4e-7 |
PFAM |
|
Pfam:KaiC
|
82 |
129 |
8e-8 |
PFAM |
|
Pfam:Rad51
|
115 |
274 |
8.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000100718
|
| SMART Domains |
Protein: ENSMUSP00000098284
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
83 |
5e-30 |
PDB |
|
SCOP:d1b22a_
|
10 |
48 |
2e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000135963
AA Change: D206G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122477
Gene: ENSMUSG00000018841
AA Change: D206G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
|
low complexity region
|
49 |
59 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
64 |
219 |
7e-18 |
PFAM |
|
Pfam:AAA_25
|
69 |
226 |
2.6e-15 |
PFAM |
|
Pfam:KaiC
|
82 |
216 |
5.7e-12 |
PFAM |
|
Pfam:AAA_19
|
93 |
168 |
1.4e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146053
|
| SMART Domains |
Protein: ENSMUSP00000117401
Gene: ENSMUSG00000018841
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KZ3|A
|
1 |
48 |
1e-13 |
PDB |
|
SCOP:d1b22a_
|
10 |
48 |
7e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.9534 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
FUNCTION: This gene belongs to the Rad51 gene family whose products play a major role in homologous recombination and DNA repair. The encoded protein interacts with other proteins of this family, including Rad51b, Rad51c and Xrcc2, and plays an essential role in both DNA repair and telomere maintenance. In humans, germline mutations in this gene may be associated with predisposition to ovarian cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene die as embryos before E11.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Abca13 |
A |
T |
11: 9,349,165 (GRCm39) |
I3580F |
probably damaging |
Het |
| B3glct |
A |
G |
5: 149,668,905 (GRCm39) |
K280E |
probably benign |
Het |
| Chd6 |
TG |
T |
2: 160,807,679 (GRCm39) |
|
probably null |
Het |
| Clu |
T |
C |
14: 66,218,358 (GRCm39) |
V406A |
probably damaging |
Het |
| D930020B18Rik |
A |
G |
10: 121,490,741 (GRCm39) |
K114E |
probably damaging |
Het |
| Dsg1c |
T |
A |
18: 20,400,945 (GRCm39) |
D149E |
probably damaging |
Het |
| Entrep2 |
A |
G |
7: 64,425,565 (GRCm39) |
S176P |
probably benign |
Het |
| Fat2 |
A |
T |
11: 55,160,922 (GRCm39) |
D3269E |
possibly damaging |
Het |
| Frmd4a |
A |
G |
2: 4,591,187 (GRCm39) |
D69G |
probably damaging |
Het |
| Hacd1 |
G |
T |
2: 14,040,698 (GRCm39) |
P186T |
probably damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Kif2c |
A |
G |
4: 117,027,038 (GRCm39) |
V320A |
probably damaging |
Het |
| Lypd2 |
T |
A |
15: 74,606,103 (GRCm39) |
I12L |
probably benign |
Het |
| Midn |
G |
T |
10: 79,985,946 (GRCm39) |
R12L |
possibly damaging |
Het |
| Or2b6 |
T |
C |
13: 21,822,757 (GRCm39) |
K312R |
probably benign |
Het |
| Or8g34 |
A |
G |
9: 39,373,105 (GRCm39) |
Y126C |
probably damaging |
Het |
| Or9q2 |
A |
G |
19: 13,772,135 (GRCm39) |
V280A |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,271,079 (GRCm39) |
V3158E |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rcan1 |
A |
G |
16: 92,194,240 (GRCm39) |
F58L |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,422,205 (GRCm39) |
I96T |
probably benign |
Het |
| Rnf216 |
A |
T |
5: 143,066,089 (GRCm39) |
F500I |
probably damaging |
Het |
| Rph3al |
T |
C |
11: 75,724,258 (GRCm39) |
T282A |
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,951,002 (GRCm39) |
R240G |
probably benign |
Het |
| Slc12a2 |
T |
A |
18: 58,033,122 (GRCm39) |
I400N |
probably benign |
Het |
| Slco1a4 |
C |
A |
6: 141,787,103 (GRCm39) |
C28F |
probably benign |
Het |
| Sned1 |
T |
A |
1: 93,184,174 (GRCm39) |
I134N |
probably damaging |
Het |
| Spock3 |
T |
A |
8: 63,798,747 (GRCm39) |
M253K |
probably damaging |
Het |
| Tmem184b |
T |
A |
15: 79,262,732 (GRCm39) |
M42L |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,516,615 (GRCm39) |
|
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,938,922 (GRCm39) |
S407T |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Zfat |
T |
C |
15: 67,973,390 (GRCm39) |
E1117G |
probably damaging |
Het |
| Zfp606 |
A |
G |
7: 12,227,016 (GRCm39) |
E321G |
possibly damaging |
Het |
|
| Other mutations in Rad51d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Rad51d
|
APN |
11 |
82,780,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02755:Rad51d
|
APN |
11 |
82,772,458 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03270:Rad51d
|
APN |
11 |
82,772,420 (GRCm39) |
splice site |
probably benign |
|
|
spew
|
UTSW |
11 |
82,770,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0179:Rad51d
|
UTSW |
11 |
82,780,824 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1440:Rad51d
|
UTSW |
11 |
82,781,179 (GRCm39) |
nonsense |
probably null |
|
|
R1771:Rad51d
|
UTSW |
11 |
82,774,764 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2106:Rad51d
|
UTSW |
11 |
82,770,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Rad51d
|
UTSW |
11 |
82,781,196 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6917:Rad51d
|
UTSW |
11 |
82,770,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6941:Rad51d
|
UTSW |
11 |
82,780,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8063:Rad51d
|
UTSW |
11 |
82,780,597 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8910:Rad51d
|
UTSW |
11 |
82,773,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8923:Rad51d
|
UTSW |
11 |
82,773,798 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Rad51d
|
UTSW |
11 |
82,781,162 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCATCATCAAGGCCAG -3'
(R):5'- GCTATAGCCGCAAACATTTTGTAC -3'
Sequencing Primer
(F):5'- CAGGCCTGGGGGAGGAG -3'
(R):5'- GGCTGTCCTGGAACTTCAAAGAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation