Incidental Mutation 'IGL03493:Rad51c'
| ID |
490719 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad51c
|
| Ensembl Gene |
ENSMUSG00000007646 |
| Gene Name |
RAD51 paralog C |
| Synonyms |
Rad51l2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03493
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
87267471-87295780 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 87288579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 201
(H201Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000007790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000007790]
[ENSMUST00000067692]
[ENSMUST00000129400]
[ENSMUST00000153073]
|
| AlphaFold |
Q924H5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000007790
AA Change: H201Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000007790
Gene: ENSMUSG00000007646
AA Change: H201Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
26 |
N/A |
INTRINSIC |
|
Pfam:Rad51
|
91 |
359 |
1.7e-32 |
PFAM |
|
Pfam:AAA_25
|
97 |
298 |
1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067692
AA Change: H183Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000064079
Gene: ENSMUSG00000007646
AA Change: H183Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
73 |
341 |
1.9e-32 |
PFAM |
|
Pfam:AAA_25
|
79 |
280 |
7.6e-10 |
PFAM |
|
Pfam:KaiC
|
91 |
137 |
2e-7 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129400
|
| SMART Domains |
Protein: ENSMUSP00000121928
Gene: ENSMUSG00000007646
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1PZN|G
|
10 |
125 |
2e-9 |
PDB |
|
SCOP:d1g8ya_
|
91 |
125 |
9e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153073
AA Change: H183Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000122811
Gene: ENSMUSG00000007646
AA Change: H183Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
73 |
315 |
3.2e-28 |
PFAM |
|
Pfam:AAA_25
|
79 |
280 |
2.1e-10 |
PFAM |
|
Pfam:KaiC
|
91 |
137 |
1.7e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality. Mice carrying a null and a hypomorphic allele have partial penetrance of male and female infertility due to defects in meiosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldoart1 |
G |
A |
4: 72,769,884 (GRCm39) |
T253I |
probably damaging |
Het |
| Ampd2 |
T |
C |
3: 107,982,674 (GRCm39) |
E694G |
probably damaging |
Het |
| Atcay |
C |
A |
10: 81,046,407 (GRCm39) |
E306* |
probably null |
Het |
| Atp13a5 |
G |
T |
16: 29,116,342 (GRCm39) |
D546E |
probably benign |
Het |
| C2cd2 |
T |
C |
16: 97,682,861 (GRCm39) |
D125G |
probably damaging |
Het |
| Col23a1 |
T |
C |
11: 51,455,632 (GRCm39) |
|
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,260,651 (GRCm39) |
|
probably benign |
Het |
| Cyp4a31 |
T |
A |
4: 115,427,952 (GRCm39) |
|
probably null |
Het |
| Dnah11 |
G |
A |
12: 117,976,533 (GRCm39) |
R2708C |
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,772,059 (GRCm39) |
I537V |
probably benign |
Het |
| Ezh1 |
T |
C |
11: 101,094,617 (GRCm39) |
T392A |
probably benign |
Het |
| Hsd17b14 |
A |
T |
7: 45,205,515 (GRCm39) |
D42V |
probably damaging |
Het |
| Hsf2 |
A |
T |
10: 57,381,462 (GRCm39) |
I294F |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,600,972 (GRCm39) |
S797R |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,936,950 (GRCm39) |
C183* |
probably null |
Het |
| Lnpep |
G |
T |
17: 17,799,433 (GRCm39) |
A74E |
probably damaging |
Het |
| Map4k1 |
A |
T |
7: 28,683,576 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,677,309 (GRCm39) |
R173G |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,733,278 (GRCm39) |
I585T |
probably damaging |
Het |
| Or13a27 |
A |
T |
7: 139,925,066 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or52e7 |
A |
G |
7: 104,685,151 (GRCm39) |
T249A |
probably damaging |
Het |
| Or5d39 |
G |
A |
2: 87,980,280 (GRCm39) |
P28S |
probably benign |
Het |
| Phactr2 |
A |
G |
10: 13,133,413 (GRCm39) |
V190A |
probably benign |
Het |
| Podnl1 |
G |
A |
8: 84,858,818 (GRCm39) |
V548I |
probably benign |
Het |
| Sec63 |
C |
A |
10: 42,704,937 (GRCm39) |
D730E |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,297,226 (GRCm39) |
I39M |
probably damaging |
Het |
| Trav2 |
A |
G |
14: 52,804,745 (GRCm39) |
|
probably benign |
Het |
| Ugt3a1 |
A |
G |
15: 9,361,569 (GRCm39) |
Y115C |
probably damaging |
Het |
| Zfp955b |
T |
G |
17: 33,521,519 (GRCm39) |
H329Q |
probably benign |
Het |
|
| Other mutations in Rad51c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02457:Rad51c
|
APN |
11 |
87,271,681 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03096:Rad51c
|
APN |
11 |
87,279,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Rad51c
|
UTSW |
11 |
87,288,481 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1875:Rad51c
|
UTSW |
11 |
87,279,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2098:Rad51c
|
UTSW |
11 |
87,293,589 (GRCm39) |
missense |
probably benign |
|
|
R4172:Rad51c
|
UTSW |
11 |
87,293,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4798:Rad51c
|
UTSW |
11 |
87,286,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5054:Rad51c
|
UTSW |
11 |
87,288,580 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5182:Rad51c
|
UTSW |
11 |
87,288,545 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5381:Rad51c
|
UTSW |
11 |
87,288,459 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6087:Rad51c
|
UTSW |
11 |
87,271,705 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7066:Rad51c
|
UTSW |
11 |
87,293,502 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7714:Rad51c
|
UTSW |
11 |
87,292,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8242:Rad51c
|
UTSW |
11 |
87,280,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9054:Rad51c
|
UTSW |
11 |
87,293,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2017-10-20 |
Incidental Mutation