Incidental Mutation 'R6947:Rad54b'
| ID |
540919 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54b
|
| Ensembl Gene |
ENSMUSG00000078773 |
| Gene Name |
RAD54 homolog B (S. cerevisiae) |
| Synonyms |
E130016E03Rik, E130016E03Rik |
| MMRRC Submission |
045060-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6947 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
11558930-11615806 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 11569859 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 58
(S58R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103942
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070755]
[ENSMUST00000095145]
[ENSMUST00000108306]
|
| AlphaFold |
Q6PFE3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070755
AA Change: S58R
PolyPhen 2
Score 0.291 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066977
Gene: ENSMUSG00000078773
AA Change: S58R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
113 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
DEXDc
|
270 |
470 |
4.36e-36 |
SMART |
|
HELICc
|
652 |
736 |
6.14e-22 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095145
AA Change: S58R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108306
AA Change: S58R
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.0%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an increased sensitivity to ionizing radiation and other agents of DNA damage but outherwise have a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts7 |
C |
A |
9: 90,073,857 (GRCm39) |
|
probably null |
Het |
| Adcy4 |
T |
C |
14: 56,015,848 (GRCm39) |
T414A |
possibly damaging |
Het |
| Bop1 |
A |
G |
15: 76,338,188 (GRCm39) |
F561L |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,309,401 (GRCm39) |
V332A |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,365,918 (GRCm39) |
T1042A |
probably damaging |
Het |
| Cnot8 |
G |
T |
11: 58,008,331 (GRCm39) |
V266L |
probably benign |
Het |
| Cxxc4 |
C |
T |
3: 133,946,277 (GRCm39) |
S286F |
possibly damaging |
Het |
| Cyp2d12 |
A |
T |
15: 82,443,248 (GRCm39) |
I386L |
probably benign |
Het |
| Dgka |
A |
T |
10: 128,568,884 (GRCm39) |
I227N |
probably damaging |
Het |
| Eif2d |
T |
C |
1: 131,092,404 (GRCm39) |
V354A |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,380 (GRCm39) |
|
probably null |
Het |
| Idnk |
A |
G |
13: 58,308,055 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
T |
C |
5: 23,702,543 (GRCm39) |
S952P |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,896,124 (GRCm39) |
H343R |
probably benign |
Het |
| Lgals8 |
G |
A |
13: 12,469,682 (GRCm39) |
|
probably benign |
Het |
| Lrit3 |
T |
A |
3: 129,582,883 (GRCm39) |
Q368L |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,273,592 (GRCm39) |
T24S |
probably benign |
Het |
| Map3k4 |
G |
A |
17: 12,479,456 (GRCm39) |
Q704* |
probably null |
Het |
| Mcm3ap |
A |
G |
10: 76,351,500 (GRCm39) |
I1948V |
probably benign |
Het |
| Mettl25 |
A |
G |
10: 105,662,053 (GRCm39) |
F306L |
probably benign |
Het |
| Mos |
A |
C |
4: 3,871,585 (GRCm39) |
V77G |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,596,177 (GRCm39) |
R3130C |
possibly damaging |
Het |
| Naxd |
T |
C |
8: 11,552,757 (GRCm39) |
V59A |
probably damaging |
Het |
| Nup107 |
A |
G |
10: 117,593,179 (GRCm39) |
V833A |
probably benign |
Het |
| Or1p4-ps1 |
C |
T |
11: 74,208,370 (GRCm39) |
S173L |
unknown |
Het |
| Or5m10b |
T |
C |
2: 85,699,271 (GRCm39) |
F112L |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,577,021 (GRCm39) |
|
probably null |
Het |
| Pde10a |
T |
A |
17: 9,188,424 (GRCm39) |
I908N |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,228,075 (GRCm39) |
K1058R |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,759,383 (GRCm39) |
F548Y |
probably damaging |
Het |
| Rbm20 |
G |
A |
19: 53,839,696 (GRCm39) |
G895D |
probably damaging |
Het |
| Rgs22 |
T |
C |
15: 36,104,036 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
A |
G |
13: 76,058,785 (GRCm39) |
S338P |
probably benign |
Het |
| Ruvbl2 |
A |
G |
7: 45,074,373 (GRCm39) |
|
probably null |
Het |
| Slc16a12 |
A |
G |
19: 34,650,007 (GRCm39) |
F343L |
probably benign |
Het |
| Slc22a28 |
A |
G |
19: 8,041,875 (GRCm39) |
L444P |
possibly damaging |
Het |
| Slc44a4 |
A |
T |
17: 35,147,044 (GRCm39) |
Q358L |
probably null |
Het |
| Sowaha |
A |
G |
11: 53,369,225 (GRCm39) |
F504L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,125,789 (GRCm39) |
L6035P |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,910,029 (GRCm39) |
M190K |
possibly damaging |
Het |
| Tmem171 |
A |
G |
13: 98,824,950 (GRCm39) |
F227L |
possibly damaging |
Het |
| Trp53 |
A |
G |
11: 69,479,307 (GRCm39) |
K162E |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,724,732 (GRCm39) |
K2098* |
probably null |
Het |
| Usp30 |
T |
C |
5: 114,241,821 (GRCm39) |
S88P |
probably benign |
Het |
| Zfp276 |
C |
A |
8: 123,981,643 (GRCm39) |
D63E |
probably benign |
Het |
|
| Other mutations in Rad54b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00770:Rad54b
|
APN |
4 |
11,593,765 (GRCm39) |
missense |
probably benign |
|
|
IGL00774:Rad54b
|
APN |
4 |
11,593,765 (GRCm39) |
missense |
probably benign |
|
|
IGL00956:Rad54b
|
APN |
4 |
11,597,833 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00961:Rad54b
|
APN |
4 |
11,599,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01064:Rad54b
|
APN |
4 |
11,604,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02150:Rad54b
|
APN |
4 |
11,610,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02326:Rad54b
|
APN |
4 |
11,612,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03105:Rad54b
|
APN |
4 |
11,615,569 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03143:Rad54b
|
APN |
4 |
11,599,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03288:Rad54b
|
APN |
4 |
11,569,833 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
kerplunk
|
UTSW |
4 |
11,612,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Schnipfel
|
UTSW |
4 |
11,583,689 (GRCm39) |
unclassified |
probably benign |
|
|
P0033:Rad54b
|
UTSW |
4 |
11,609,285 (GRCm39) |
unclassified |
probably benign |
|
|
R0076:Rad54b
|
UTSW |
4 |
11,609,480 (GRCm39) |
unclassified |
probably benign |
|
|
R0094:Rad54b
|
UTSW |
4 |
11,599,681 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0391:Rad54b
|
UTSW |
4 |
11,601,702 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0441:Rad54b
|
UTSW |
4 |
11,563,394 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0442:Rad54b
|
UTSW |
4 |
11,610,362 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0442:Rad54b
|
UTSW |
4 |
11,609,480 (GRCm39) |
unclassified |
probably benign |
|
|
R0449:Rad54b
|
UTSW |
4 |
11,606,131 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0519:Rad54b
|
UTSW |
4 |
11,599,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0843:Rad54b
|
UTSW |
4 |
11,609,471 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1118:Rad54b
|
UTSW |
4 |
11,563,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Rad54b
|
UTSW |
4 |
11,606,152 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1763:Rad54b
|
UTSW |
4 |
11,604,989 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1812:Rad54b
|
UTSW |
4 |
11,612,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1854:Rad54b
|
UTSW |
4 |
11,601,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1917:Rad54b
|
UTSW |
4 |
11,601,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Rad54b
|
UTSW |
4 |
11,601,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Rad54b
|
UTSW |
4 |
11,601,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2057:Rad54b
|
UTSW |
4 |
11,606,088 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2386:Rad54b
|
UTSW |
4 |
11,597,874 (GRCm39) |
missense |
probably benign |
|
|
R2437:Rad54b
|
UTSW |
4 |
11,606,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4299:Rad54b
|
UTSW |
4 |
11,597,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4391:Rad54b
|
UTSW |
4 |
11,615,570 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4672:Rad54b
|
UTSW |
4 |
11,609,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4673:Rad54b
|
UTSW |
4 |
11,609,449 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4826:Rad54b
|
UTSW |
4 |
11,599,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4930:Rad54b
|
UTSW |
4 |
11,615,579 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5796:Rad54b
|
UTSW |
4 |
11,615,446 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5901:Rad54b
|
UTSW |
4 |
11,595,919 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6185:Rad54b
|
UTSW |
4 |
11,593,804 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6355:Rad54b
|
UTSW |
4 |
11,604,989 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6576:Rad54b
|
UTSW |
4 |
11,601,577 (GRCm39) |
missense |
probably benign |
|
|
R6684:Rad54b
|
UTSW |
4 |
11,583,689 (GRCm39) |
unclassified |
probably benign |
|
|
R6821:Rad54b
|
UTSW |
4 |
11,612,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Rad54b
|
UTSW |
4 |
11,599,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7361:Rad54b
|
UTSW |
4 |
11,599,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7483:Rad54b
|
UTSW |
4 |
11,610,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Rad54b
|
UTSW |
4 |
11,578,956 (GRCm39) |
splice site |
probably null |
|
|
R7847:Rad54b
|
UTSW |
4 |
11,612,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7908:Rad54b
|
UTSW |
4 |
11,595,868 (GRCm39) |
missense |
probably null |
0.01 |
|
R8198:Rad54b
|
UTSW |
4 |
11,612,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9140:Rad54b
|
UTSW |
4 |
11,610,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9213:Rad54b
|
UTSW |
4 |
11,609,321 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTGCCTTTCAGTTCTAGAACC -3'
(R):5'- ACCTGAAGCAAAATATCCAGTGG -3'
Sequencing Primer
(F):5'- CAGTTCTAGAACCTAGGTCCTGG -3'
(R):5'- GAGCACTGTGAAGTAACG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation