Incidental Mutation 'IGL03270:Rad51d'
ID |
415235 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rad51d
|
Ensembl Gene |
ENSMUSG00000018841 |
Gene Name |
RAD51 paralog D |
Synonyms |
Rad51l3, R51H3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03270
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
82767260-82781440 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 82772420 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117401
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018985]
[ENSMUST00000021033]
[ENSMUST00000092844]
[ENSMUST00000100718]
[ENSMUST00000135963]
[ENSMUST00000146053]
|
AlphaFold |
O55230 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000018985
|
SMART Domains |
Protein: ENSMUSP00000018985 Gene: ENSMUSG00000018841
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 benign
Transcript: ENSMUST00000092844
|
SMART Domains |
Protein: ENSMUSP00000090520 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
|
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 benign
Transcript: ENSMUST00000135963
|
SMART Domains |
Protein: ENSMUSP00000122477 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 |
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ctnnd1 |
A |
T |
2: 84,440,071 (GRCm39) |
|
probably null |
Het |
Fcmr |
A |
T |
1: 130,803,779 (GRCm39) |
R194S |
possibly damaging |
Het |
Fmo2 |
A |
G |
1: 162,709,595 (GRCm39) |
F264S |
probably damaging |
Het |
Gfra2 |
A |
G |
14: 71,163,344 (GRCm39) |
D209G |
possibly damaging |
Het |
Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
Iigp1c |
A |
G |
18: 60,378,548 (GRCm39) |
K28E |
probably benign |
Het |
Kifap3 |
T |
A |
1: 163,676,302 (GRCm39) |
M419K |
probably benign |
Het |
Lgr6 |
A |
C |
1: 134,925,442 (GRCm39) |
I133S |
probably damaging |
Het |
Med13l |
A |
C |
5: 118,869,495 (GRCm39) |
N811T |
probably damaging |
Het |
Or4c118 |
A |
G |
2: 88,975,089 (GRCm39) |
F93L |
probably damaging |
Het |
Or6k2 |
T |
A |
1: 173,987,119 (GRCm39) |
M260K |
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,592,637 (GRCm39) |
D1580V |
possibly damaging |
Het |
Ppp4r2 |
T |
G |
6: 100,840,086 (GRCm39) |
N72K |
probably damaging |
Het |
Prr27 |
T |
C |
5: 87,983,537 (GRCm39) |
|
probably benign |
Het |
Rel |
T |
C |
11: 23,692,584 (GRCm39) |
N483S |
probably benign |
Het |
Scn9a |
A |
G |
2: 66,314,358 (GRCm39) |
F1776L |
probably damaging |
Het |
Slco5a1 |
G |
A |
1: 12,942,252 (GRCm39) |
T798I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,606,811 (GRCm39) |
D18033G |
probably damaging |
Het |
Vmn1r46 |
T |
A |
6: 89,953,756 (GRCm39) |
S202T |
probably damaging |
Het |
Vmn2r110 |
T |
G |
17: 20,803,778 (GRCm39) |
M266L |
probably benign |
Het |
Vmn2r26 |
A |
T |
6: 124,027,778 (GRCm39) |
D506V |
probably benign |
Het |
Zbtb1 |
T |
C |
12: 76,432,289 (GRCm39) |
S92P |
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 |
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 |
R2340:Rad51d
|
UTSW |
11 |
82,772,647 (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 |
|
|
Posted On |
2016-08-02 |