Incidental Mutation 'R1018:Rad54l2'
| ID |
96616 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
039122-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1018 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106688082-106789194 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106712390 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 601
(C601F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046502
AA Change: C601F
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: C601F
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
20 |
49 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
130 |
146 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
200 |
N/A |
INTRINSIC |
|
low complexity region
|
215 |
229 |
N/A |
INTRINSIC |
|
DEXDc
|
267 |
520 |
4.21e-20 |
SMART |
|
HELICc
|
751 |
854 |
1.88e-17 |
SMART |
|
low complexity region
|
959 |
976 |
N/A |
INTRINSIC |
|
low complexity region
|
1348 |
1368 |
N/A |
INTRINSIC |
|
low complexity region
|
1453 |
1460 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1248 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
PHENOTYPE: Homozygous null embryos show delayed growth, reduced cell proliferation, increased apoptosis and die by E11.5. At E9.5-E10.5, most major organs are smaller and the neural tube is shrunk in some cases. Mutant MEFs cease to grow after 2-3 passages showing increased apoptosis and reduced DNA synthesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
G |
T |
10: 80,001,491 (GRCm38) |
C403F |
probably damaging |
Het |
| Adam20 |
C |
T |
8: 40,796,109 (GRCm38) |
Q419* |
probably null |
Het |
| Ankrd36 |
C |
T |
11: 5,646,876 (GRCm38) |
|
probably benign |
Het |
| Arl8b |
T |
A |
6: 108,818,611 (GRCm38) |
I170K |
probably damaging |
Het |
| Atp5f1 |
A |
T |
3: 105,954,172 (GRCm38) |
V78E |
possibly damaging |
Het |
| Car9 |
G |
T |
4: 43,512,439 (GRCm38) |
|
probably null |
Het |
| Cgnl1 |
A |
G |
9: 71,726,058 (GRCm38) |
Y4H |
probably damaging |
Het |
| Cnn2 |
T |
C |
10: 79,993,563 (GRCm38) |
C176R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,194,093 (GRCm38) |
D3392G |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,967,811 (GRCm38) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,763,013 (GRCm38) |
V870E |
possibly damaging |
Het |
| Epx |
T |
C |
11: 87,869,303 (GRCm38) |
N495S |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,221,336 (GRCm38) |
Y407F |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,080,260 (GRCm38) |
Q552L |
probably benign |
Het |
| Hspa13 |
C |
A |
16: 75,761,276 (GRCm38) |
V134L |
possibly damaging |
Het |
| Il16 |
T |
C |
7: 83,674,538 (GRCm38) |
N268S |
probably damaging |
Het |
| Kif14 |
G |
A |
1: 136,495,841 (GRCm38) |
|
probably benign |
Het |
| Lrig1 |
G |
A |
6: 94,622,602 (GRCm38) |
|
probably benign |
Het |
| Myo7a |
T |
A |
7: 98,107,005 (GRCm38) |
D29V |
probably damaging |
Het |
| Nsd2 |
A |
G |
5: 33,843,241 (GRCm38) |
K34R |
probably damaging |
Het |
| Olfr1234 |
C |
A |
2: 89,363,179 (GRCm38) |
L83F |
possibly damaging |
Het |
| P3h1 |
C |
A |
4: 119,237,907 (GRCm38) |
T287K |
probably damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,201,259 (GRCm38) |
H3023Q |
possibly damaging |
Het |
| Plxna1 |
A |
G |
6: 89,342,960 (GRCm38) |
L535P |
probably damaging |
Het |
| Ppp1r32 |
A |
T |
19: 10,479,460 (GRCm38) |
|
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,029,714 (GRCm38) |
S400R |
probably benign |
Het |
| Psap |
T |
G |
10: 60,300,811 (GRCm38) |
L523R |
probably damaging |
Het |
| Psme4 |
C |
T |
11: 30,804,310 (GRCm38) |
T189I |
probably damaging |
Het |
| Ptpn12 |
A |
T |
5: 21,029,869 (GRCm38) |
S39T |
possibly damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,878,000 (GRCm38) |
H98L |
possibly damaging |
Het |
| Sfswap |
A |
G |
5: 129,554,576 (GRCm38) |
K756R |
possibly damaging |
Het |
| Slc24a5 |
T |
C |
2: 125,068,907 (GRCm38) |
V86A |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 23,822,540 (GRCm38) |
S2575P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,117,374 (GRCm38) |
|
probably benign |
Het |
| Tbx6 |
T |
A |
7: 126,783,192 (GRCm38) |
|
probably benign |
Het |
| Tmem131 |
A |
C |
1: 36,794,819 (GRCm38) |
F1727V |
probably damaging |
Het |
| Tpr |
T |
A |
1: 150,442,183 (GRCm38) |
H2147Q |
possibly damaging |
Het |
| Trio |
T |
A |
15: 27,871,171 (GRCm38) |
H620L |
probably damaging |
Het |
| Uba5 |
T |
C |
9: 104,049,903 (GRCm38) |
T292A |
probably benign |
Het |
| Unc5a |
T |
A |
13: 54,990,952 (GRCm38) |
V48E |
possibly damaging |
Het |
| Upf1 |
G |
T |
8: 70,338,906 (GRCm38) |
H514Q |
possibly damaging |
Het |
| Usp9y |
A |
G |
Y: 1,341,414 (GRCm38) |
|
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,556,840 (GRCm38) |
D191V |
probably benign |
Het |
| Wapl |
T |
C |
14: 34,691,906 (GRCm38) |
Y242H |
possibly damaging |
Het |
| Zfp341 |
A |
T |
2: 154,646,052 (GRCm38) |
N812Y |
probably damaging |
Het |
| Zfp358 |
C |
A |
8: 3,496,843 (GRCm38) |
S475* |
probably null |
Het |
| Zfp957 |
C |
A |
14: 79,212,742 (GRCm38) |
C539F |
probably damaging |
Het |
|
| Other mutations in Rad54l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Rad54l2
|
APN |
9 |
106,700,561 (GRCm38) |
missense |
probably benign |
|
|
IGL00718:Rad54l2
|
APN |
9 |
106,713,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00917:Rad54l2
|
APN |
9 |
106,710,439 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01319:Rad54l2
|
APN |
9 |
106,719,046 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01447:Rad54l2
|
APN |
9 |
106,702,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01469:Rad54l2
|
APN |
9 |
106,722,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01836:Rad54l2
|
APN |
9 |
106,716,157 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02017:Rad54l2
|
APN |
9 |
106,754,040 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02179:Rad54l2
|
APN |
9 |
106,720,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02348:Rad54l2
|
APN |
9 |
106,720,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02822:Rad54l2
|
APN |
9 |
106,710,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03169:Rad54l2
|
APN |
9 |
106,719,064 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL03245:Rad54l2
|
APN |
9 |
106,703,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03253:Rad54l2
|
APN |
9 |
106,704,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02988:Rad54l2
|
UTSW |
9 |
106,700,585 (GRCm38) |
missense |
probably benign |
|
|
PIT4495001:Rad54l2
|
UTSW |
9 |
106,716,144 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0001:Rad54l2
|
UTSW |
9 |
106,708,217 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0069:Rad54l2
|
UTSW |
9 |
106,710,365 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0069:Rad54l2
|
UTSW |
9 |
106,710,365 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0114:Rad54l2
|
UTSW |
9 |
106,713,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0427:Rad54l2
|
UTSW |
9 |
106,693,692 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0519:Rad54l2
|
UTSW |
9 |
106,708,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0760:Rad54l2
|
UTSW |
9 |
106,719,606 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1630:Rad54l2
|
UTSW |
9 |
106,703,629 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1701:Rad54l2
|
UTSW |
9 |
106,700,493 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1903:Rad54l2
|
UTSW |
9 |
106,693,717 (GRCm38) |
splice site |
probably null |
|
|
R2187:Rad54l2
|
UTSW |
9 |
106,753,992 (GRCm38) |
small deletion |
probably benign |
|
|
R2205:Rad54l2
|
UTSW |
9 |
106,717,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2566:Rad54l2
|
UTSW |
9 |
106,703,626 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2983:Rad54l2
|
UTSW |
9 |
106,700,590 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3176:Rad54l2
|
UTSW |
9 |
106,753,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3276:Rad54l2
|
UTSW |
9 |
106,753,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3718:Rad54l2
|
UTSW |
9 |
106,693,527 (GRCm38) |
missense |
probably benign |
|
|
R4063:Rad54l2
|
UTSW |
9 |
106,720,414 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4206:Rad54l2
|
UTSW |
9 |
106,717,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4271:Rad54l2
|
UTSW |
9 |
106,693,626 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4377:Rad54l2
|
UTSW |
9 |
106,693,222 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4700:Rad54l2
|
UTSW |
9 |
106,754,025 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4729:Rad54l2
|
UTSW |
9 |
106,716,118 (GRCm38) |
missense |
probably benign |
|
|
R4872:Rad54l2
|
UTSW |
9 |
106,717,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4997:Rad54l2
|
UTSW |
9 |
106,722,909 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5475:Rad54l2
|
UTSW |
9 |
106,705,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5658:Rad54l2
|
UTSW |
9 |
106,753,992 (GRCm38) |
small deletion |
probably benign |
|
|
R6246:Rad54l2
|
UTSW |
9 |
106,700,493 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6248:Rad54l2
|
UTSW |
9 |
106,710,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6329:Rad54l2
|
UTSW |
9 |
106,717,922 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6631:Rad54l2
|
UTSW |
9 |
106,713,540 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Rad54l2
|
UTSW |
9 |
106,693,317 (GRCm38) |
missense |
probably benign |
|
|
R7148:Rad54l2
|
UTSW |
9 |
106,719,119 (GRCm38) |
nonsense |
probably null |
|
|
R7171:Rad54l2
|
UTSW |
9 |
106,713,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7226:Rad54l2
|
UTSW |
9 |
106,713,472 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7327:Rad54l2
|
UTSW |
9 |
106,693,461 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7337:Rad54l2
|
UTSW |
9 |
106,705,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Rad54l2
|
UTSW |
9 |
106,720,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7659:Rad54l2
|
UTSW |
9 |
106,713,578 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7713:Rad54l2
|
UTSW |
9 |
106,717,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Rad54l2
|
UTSW |
9 |
106,719,034 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8021:Rad54l2
|
UTSW |
9 |
106,719,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8084:Rad54l2
|
UTSW |
9 |
106,713,502 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8552:Rad54l2
|
UTSW |
9 |
106,693,578 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8768:Rad54l2
|
UTSW |
9 |
106,719,610 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8952:Rad54l2
|
UTSW |
9 |
106,688,851 (GRCm38) |
unclassified |
probably benign |
|
|
R8953:Rad54l2
|
UTSW |
9 |
106,693,262 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9041:Rad54l2
|
UTSW |
9 |
106,722,819 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9296:Rad54l2
|
UTSW |
9 |
106,702,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Rad54l2
|
UTSW |
9 |
106,708,289 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9523:Rad54l2
|
UTSW |
9 |
106,695,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9657:Rad54l2
|
UTSW |
9 |
106,704,173 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9757:Rad54l2
|
UTSW |
9 |
106,717,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTTCACCCAGAATTCCCACGAG -3'
(R):5'- ACAGCGTCACTGTCTGTACCATCC -3'
Sequencing Primer
(F):5'- CACAGAAAGCCTTCAGAGGA -3'
(R):5'- ATTTCCAGAAAATGGTGTGGC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation