Incidental Mutation 'R1847:Rad50'
| ID |
207814 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad50
|
| Ensembl Gene |
ENSMUSG00000020380 |
| Gene Name |
RAD50 double strand break repair protein |
| Synonyms |
Rad50l, Mrell |
| MMRRC Submission |
039872-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1847 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
53540346-53598146 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53592934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 72
(V72A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020649]
[ENSMUST00000124352]
[ENSMUST00000128483]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020649
AA Change: V72A
PolyPhen 2
Score 0.536 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000020649
Gene: ENSMUSG00000020380
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
6 |
295 |
1.8e-31 |
PFAM |
|
coiled coil region
|
397 |
534 |
N/A |
INTRINSIC |
|
Pfam:Rad50_zn_hook
|
659 |
712 |
9.9e-16 |
PFAM |
|
low complexity region
|
825 |
836 |
N/A |
INTRINSIC |
|
low complexity region
|
919 |
929 |
N/A |
INTRINSIC |
|
coiled coil region
|
1019 |
1075 |
N/A |
INTRINSIC |
|
Pfam:SbcCD_C
|
1174 |
1251 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122470
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124352
AA Change: V72A
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000119618
Gene: ENSMUSG00000020380
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
6 |
290 |
2.7e-24 |
PFAM |
|
coiled coil region
|
397 |
469 |
N/A |
INTRINSIC |
|
Pfam:Rad50_zn_hook
|
597 |
652 |
1.9e-19 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000128483
AA Change: V72A
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000120869
Gene: ENSMUSG00000020380
AA Change: V72A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_23
|
6 |
295 |
6e-23 |
PFAM |
|
coiled coil region
|
397 |
534 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2466 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 94.9%
- 20x: 91.2%
|
| Validation Efficiency |
97% (68/70) |
| 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 highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]
PHENOTYPE: Homozygotes for a targeted hypomorphic mutation exhibit growth defects, predisposition toward cancer, progressive loss of hematopoietic and spermatogenic stem cells, and lethality due to bone marrow depletion. A null mutation results in embryonic death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
A |
16: 14,263,313 (GRCm39) |
R758S |
probably benign |
Het |
| Acnat1 |
A |
T |
4: 49,447,716 (GRCm39) |
H288Q |
possibly damaging |
Het |
| Adamts1 |
T |
C |
16: 85,599,114 (GRCm39) |
E162G |
possibly damaging |
Het |
| Akap11 |
A |
G |
14: 78,751,101 (GRCm39) |
S429P |
probably benign |
Het |
| Alg14 |
T |
C |
3: 121,155,415 (GRCm39) |
Y212H |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,357,007 (GRCm39) |
T97A |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,420,821 (GRCm39) |
N310Y |
possibly damaging |
Het |
| Cenpl |
A |
T |
1: 160,913,574 (GRCm39) |
Y328F |
probably damaging |
Het |
| Cep162 |
G |
A |
9: 87,086,133 (GRCm39) |
H1064Y |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,104,324 (GRCm39) |
E126D |
probably benign |
Het |
| Ctsh |
T |
A |
9: 89,943,618 (GRCm39) |
M81K |
probably benign |
Het |
| D6Wsu163e |
A |
G |
6: 126,932,112 (GRCm39) |
T284A |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,309,616 (GRCm39) |
M196K |
probably benign |
Het |
| Dnah9 |
C |
A |
11: 65,725,212 (GRCm39) |
G4314C |
probably damaging |
Het |
| Dph1 |
A |
G |
11: 75,070,557 (GRCm39) |
Y361H |
probably damaging |
Het |
| Ect2 |
C |
T |
3: 27,204,221 (GRCm39) |
M29I |
probably benign |
Het |
| Eif3h |
T |
C |
15: 51,661,066 (GRCm39) |
Y167C |
probably damaging |
Het |
| Epc2 |
C |
T |
2: 49,422,101 (GRCm39) |
R332C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,897,282 (GRCm39) |
|
probably null |
Het |
| Gfm2 |
A |
G |
13: 97,299,442 (GRCm39) |
I386V |
probably benign |
Het |
| Gpd1l |
G |
A |
9: 114,743,399 (GRCm39) |
T167I |
probably damaging |
Het |
| Hsph1 |
T |
A |
5: 149,546,950 (GRCm39) |
K567* |
probably null |
Het |
| Igfn1 |
T |
G |
1: 135,897,126 (GRCm39) |
S1147R |
probably benign |
Het |
| Itgb4 |
T |
C |
11: 115,874,590 (GRCm39) |
V406A |
probably benign |
Het |
| Kcna2 |
A |
G |
3: 107,012,429 (GRCm39) |
I337V |
possibly damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,209,615 (GRCm39) |
|
probably null |
Het |
| Kri1 |
G |
T |
9: 21,191,788 (GRCm39) |
|
probably benign |
Het |
| Lrguk |
T |
A |
6: 34,110,322 (GRCm39) |
I801K |
possibly damaging |
Het |
| Magi2 |
A |
T |
5: 20,807,458 (GRCm39) |
N871Y |
probably damaging |
Het |
| Map3k10 |
G |
T |
7: 27,360,981 (GRCm39) |
|
probably null |
Het |
| Mrps25 |
T |
C |
6: 92,155,721 (GRCm39) |
T71A |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,390,321 (GRCm39) |
W945* |
probably null |
Het |
| Ncan |
A |
T |
8: 70,555,104 (GRCm39) |
I1021N |
probably damaging |
Het |
| Ncf4 |
C |
A |
15: 78,134,582 (GRCm39) |
S11R |
probably benign |
Het |
| Neb |
A |
C |
2: 52,086,307 (GRCm39) |
S5255R |
possibly damaging |
Het |
| Nop2 |
TGATGAAGATGAAGATGA |
TGATGAAGATGA |
6: 125,114,042 (GRCm39) |
|
probably benign |
Het |
| Or4c102 |
G |
A |
2: 88,422,516 (GRCm39) |
A123T |
probably damaging |
Het |
| Or5ak22 |
A |
T |
2: 85,230,785 (GRCm39) |
F31I |
probably damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,065 (GRCm39) |
|
probably null |
Het |
| Pacs1 |
T |
C |
19: 5,203,742 (GRCm39) |
I328V |
probably damaging |
Het |
| Pafah2 |
GCCCC |
GCCCCC |
4: 134,152,852 (GRCm39) |
|
probably null |
Het |
| Pan2 |
A |
G |
10: 128,140,247 (GRCm39) |
H56R |
possibly damaging |
Het |
| Pigo |
G |
A |
4: 43,024,710 (GRCm39) |
R124* |
probably null |
Het |
| Ppfia2 |
A |
G |
10: 106,763,571 (GRCm39) |
D1188G |
probably benign |
Het |
| Ppp1r16b |
A |
G |
2: 158,603,355 (GRCm39) |
N327D |
probably damaging |
Het |
| Psd3 |
A |
G |
8: 68,172,656 (GRCm39) |
C223R |
possibly damaging |
Het |
| Rcor3 |
T |
A |
1: 191,785,133 (GRCm39) |
D445V |
possibly damaging |
Het |
| Rundc1 |
T |
A |
11: 101,324,507 (GRCm39) |
H404Q |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,779,236 (GRCm39) |
K2083E |
probably benign |
Het |
| Scd3 |
C |
A |
19: 44,224,281 (GRCm39) |
H171Q |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,923,021 (GRCm39) |
F155L |
probably benign |
Het |
| Serpina12 |
A |
T |
12: 103,998,769 (GRCm39) |
L323Q |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,467,843 (GRCm39) |
M467K |
probably benign |
Het |
| Stard9 |
G |
T |
2: 120,528,970 (GRCm39) |
R1742S |
possibly damaging |
Het |
| Thbd |
A |
T |
2: 148,249,604 (GRCm39) |
L88* |
probably null |
Het |
| Tln2 |
G |
A |
9: 67,269,969 (GRCm39) |
Q477* |
probably null |
Het |
| Tnn |
T |
A |
1: 159,943,752 (GRCm39) |
E1020D |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,726,990 (GRCm39) |
H3Q |
probably damaging |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vmp1 |
G |
A |
11: 86,534,413 (GRCm39) |
Q165* |
probably null |
Het |
| Zfp758 |
T |
A |
17: 22,594,204 (GRCm39) |
M230K |
probably benign |
Het |
|
| Other mutations in Rad50 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00477:Rad50
|
APN |
11 |
53,577,138 (GRCm39) |
intron |
probably benign |
|
|
IGL00709:Rad50
|
APN |
11 |
53,560,469 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL01080:Rad50
|
APN |
11 |
53,596,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01357:Rad50
|
APN |
11 |
53,597,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01979:Rad50
|
APN |
11 |
53,577,005 (GRCm39) |
nonsense |
probably null |
|
|
IGL02481:Rad50
|
APN |
11 |
53,570,876 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02483:Rad50
|
APN |
11 |
53,570,876 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02673:Rad50
|
APN |
11 |
53,579,067 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02754:Rad50
|
APN |
11 |
53,592,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03372:Rad50
|
APN |
11 |
53,586,121 (GRCm39) |
missense |
probably benign |
0.20 |
|
PIT4131001:Rad50
|
UTSW |
11 |
53,585,726 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0035:Rad50
|
UTSW |
11 |
53,545,854 (GRCm39) |
splice site |
probably benign |
|
|
R0035:Rad50
|
UTSW |
11 |
53,545,854 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Rad50
|
UTSW |
11 |
53,558,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0373:Rad50
|
UTSW |
11 |
53,541,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0567:Rad50
|
UTSW |
11 |
53,545,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1132:Rad50
|
UTSW |
11 |
53,585,788 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1249:Rad50
|
UTSW |
11 |
53,582,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1368:Rad50
|
UTSW |
11 |
53,574,072 (GRCm39) |
nonsense |
probably null |
|
|
R1501:Rad50
|
UTSW |
11 |
53,578,978 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1506:Rad50
|
UTSW |
11 |
53,570,312 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1633:Rad50
|
UTSW |
11 |
53,583,686 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1663:Rad50
|
UTSW |
11 |
53,559,050 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1933:Rad50
|
UTSW |
11 |
53,570,888 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2176:Rad50
|
UTSW |
11 |
53,589,036 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2519:Rad50
|
UTSW |
11 |
53,598,012 (GRCm39) |
start gained |
probably benign |
|
|
R3027:Rad50
|
UTSW |
11 |
53,586,208 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3894:Rad50
|
UTSW |
11 |
53,569,697 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4181:Rad50
|
UTSW |
11 |
53,592,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4302:Rad50
|
UTSW |
11 |
53,592,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4836:Rad50
|
UTSW |
11 |
53,541,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:Rad50
|
UTSW |
11 |
53,575,102 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5047:Rad50
|
UTSW |
11 |
53,565,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5201:Rad50
|
UTSW |
11 |
53,589,647 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5325:Rad50
|
UTSW |
11 |
53,583,690 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5368:Rad50
|
UTSW |
11 |
53,575,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5403:Rad50
|
UTSW |
11 |
53,586,108 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5421:Rad50
|
UTSW |
11 |
53,565,773 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6282:Rad50
|
UTSW |
11 |
53,560,597 (GRCm39) |
splice site |
probably null |
|
|
R6468:Rad50
|
UTSW |
11 |
53,582,971 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6469:Rad50
|
UTSW |
11 |
53,575,062 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6528:Rad50
|
UTSW |
11 |
53,543,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6704:Rad50
|
UTSW |
11 |
53,589,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6886:Rad50
|
UTSW |
11 |
53,577,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7055:Rad50
|
UTSW |
11 |
53,578,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7268:Rad50
|
UTSW |
11 |
53,575,102 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7288:Rad50
|
UTSW |
11 |
53,545,776 (GRCm39) |
nonsense |
probably null |
|
|
R7375:Rad50
|
UTSW |
11 |
53,543,055 (GRCm39) |
splice site |
probably null |
|
|
R7380:Rad50
|
UTSW |
11 |
53,586,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7467:Rad50
|
UTSW |
11 |
53,545,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7533:Rad50
|
UTSW |
11 |
53,589,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Rad50
|
UTSW |
11 |
53,589,685 (GRCm39) |
nonsense |
probably null |
|
|
R8345:Rad50
|
UTSW |
11 |
53,574,968 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8368:Rad50
|
UTSW |
11 |
53,574,155 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8514:Rad50
|
UTSW |
11 |
53,569,766 (GRCm39) |
nonsense |
probably null |
|
|
R8986:Rad50
|
UTSW |
11 |
53,541,354 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9182:Rad50
|
UTSW |
11 |
53,583,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTACAGAAAGGCTTCTAGGC -3'
(R):5'- TTGAGCAGTGTACTTCCCATGTC -3'
Sequencing Primer
(F):5'- TTCTAGGCCTAGAAGACCAATGTG -3'
(R):5'- GCAGTGTACTTCCCATGTCTAGAAAG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation