Incidental Mutation 'R8160:Rad51b'
| ID |
633483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad51b
|
| Ensembl Gene |
ENSMUSG00000059060 |
| Gene Name |
RAD51 paralog B |
| Synonyms |
R51H2, mREC2, Rad51l1, Rad51b |
| MMRRC Submission |
067586-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8160 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
79344056-79861464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 79350115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 70
(L70I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000079533]
[ENSMUST00000171210]
|
| AlphaFold |
O35719 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000079533
AA Change: L70I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000078490
Gene: ENSMUSG00000059060
AA Change: L70I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
61 |
256 |
3.1e-32 |
PFAM |
|
Pfam:AAA_25
|
68 |
249 |
1.1e-15 |
PFAM |
|
Pfam:KaiC
|
83 |
240 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171210
AA Change: L70I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128357
Gene: ENSMUSG00000059060
AA Change: L70I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad51
|
61 |
256 |
3e-33 |
PFAM |
|
Pfam:AAA_25
|
68 |
241 |
2.8e-16 |
PFAM |
|
Pfam:KaiC
|
83 |
241 |
3.6e-11 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.7%
|
| Validation Efficiency |
100% (32/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the RAD51 protein family. RAD51 family members are evolutionarily conserved proteins essential for DNA repair by homologous recombination. This protein has been shown to form a stable heterodimer with the family member RAD51C, which further interacts with the other family members, such as RAD51, XRCC2, and XRCC3. Overexpression of this gene was found to cause cell cycle G1 delay and cell apoptosis, which suggested a role of this protein in sensing DNA damage. Rearrangements between this locus and high mobility group AT-hook 2 (HMGA2, GeneID 8091) have been observed in uterine leiomyomata. [provided by RefSeq, Mar 2016]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded and exhibit complete early embryonic lethality; interestingly, mutant embryos survive and develop further in a Trp53-null background. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
C |
T |
7: 133,569,770 (GRCm39) |
|
probably null |
Het |
| Aldh8a1 |
A |
G |
10: 21,271,690 (GRCm39) |
D472G |
possibly damaging |
Het |
| Appl1 |
T |
C |
14: 26,650,592 (GRCm39) |
I527V |
probably benign |
Het |
| Arhgef4 |
C |
A |
1: 34,762,655 (GRCm39) |
T637K |
unknown |
Het |
| Atp7b |
G |
A |
8: 22,487,575 (GRCm39) |
A1273V |
probably damaging |
Het |
| Ccl20 |
T |
A |
1: 83,095,543 (GRCm39) |
S35T |
|
Het |
| Cdh24 |
C |
A |
14: 54,875,946 (GRCm39) |
V208F |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,178,112 (GRCm39) |
Q1055L |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,124,711 (GRCm39) |
R1009Q |
probably damaging |
Het |
| Ext2 |
A |
T |
2: 93,644,107 (GRCm39) |
V58E |
probably benign |
Het |
| Fam209 |
A |
T |
2: 172,314,645 (GRCm39) |
I45F |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,043,899 (GRCm39) |
Y579C |
probably null |
Het |
| Hipk4 |
C |
T |
7: 27,223,186 (GRCm39) |
A82V |
possibly damaging |
Het |
| Il17rc |
A |
G |
6: 113,453,489 (GRCm39) |
Y223C |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,615,446 (GRCm39) |
R397H |
unknown |
Het |
| Kdm5b |
T |
A |
1: 134,541,657 (GRCm39) |
M744K |
probably damaging |
Het |
| Mettl16 |
T |
C |
11: 74,708,505 (GRCm39) |
V568A |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,496,907 (GRCm39) |
Q422* |
probably null |
Het |
| Mvb12b |
G |
T |
2: 33,730,234 (GRCm39) |
D81E |
probably benign |
Het |
| Nostrin |
A |
T |
2: 69,009,810 (GRCm39) |
I313F |
probably damaging |
Het |
| Nsun6 |
A |
G |
2: 15,014,219 (GRCm39) |
|
probably null |
Het |
| Nt5dc1 |
T |
A |
10: 34,200,392 (GRCm39) |
E209V |
possibly damaging |
Het |
| Oasl2 |
T |
C |
5: 115,039,347 (GRCm39) |
|
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,995 (GRCm39) |
R122Q |
possibly damaging |
Het |
| Or6aa1 |
C |
T |
7: 86,044,473 (GRCm39) |
V78M |
possibly damaging |
Het |
| Or7e166 |
T |
A |
9: 19,624,085 (GRCm39) |
|
probably benign |
Het |
| Ppm1h |
A |
T |
10: 122,638,341 (GRCm39) |
T204S |
probably benign |
Het |
| Smok3c |
A |
G |
5: 138,063,286 (GRCm39) |
T258A |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,524,668 (GRCm39) |
V58A |
possibly damaging |
Het |
| Spmip7 |
T |
C |
11: 11,437,734 (GRCm39) |
S246P |
unknown |
Het |
| St6galnac1 |
G |
A |
11: 116,666,316 (GRCm39) |
|
probably benign |
Het |
| Tasor |
T |
A |
14: 27,171,913 (GRCm39) |
N420K |
probably damaging |
Het |
|
| Other mutations in Rad51b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01389:Rad51b
|
APN |
12 |
79,349,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01599:Rad51b
|
APN |
12 |
79,374,002 (GRCm39) |
missense |
probably benign |
0.30 |
|
IGL02955:Rad51b
|
APN |
12 |
79,371,856 (GRCm39) |
nonsense |
probably null |
|
|
R1544:Rad51b
|
UTSW |
12 |
79,349,317 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2998:Rad51b
|
UTSW |
12 |
79,349,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3784:Rad51b
|
UTSW |
12 |
79,347,419 (GRCm39) |
nonsense |
probably null |
|
|
R4076:Rad51b
|
UTSW |
12 |
79,361,656 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5916:Rad51b
|
UTSW |
12 |
79,371,856 (GRCm39) |
nonsense |
probably null |
|
|
R7489:Rad51b
|
UTSW |
12 |
79,347,359 (GRCm39) |
nonsense |
probably null |
|
|
R7765:Rad51b
|
UTSW |
12 |
79,850,044 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8206:Rad51b
|
UTSW |
12 |
79,361,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Rad51b
|
UTSW |
12 |
79,374,024 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8977:Rad51b
|
UTSW |
12 |
79,704,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9015:Rad51b
|
UTSW |
12 |
79,347,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Rad51b
|
UTSW |
12 |
79,344,439 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTAGCCGTCCAGTGTTC -3'
(R):5'- AGTACCTGGACTTAATTCACAGTTC -3'
Sequencing Primer
(F):5'- AGTGTTCTAACCCCTTAGTCATGGG -3'
(R):5'- CAATGCTTCATCCAAGGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation