Incidental Mutation 'R8021:Rad54l2'
ID |
617374 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
067460-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8021 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 106596840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 189
(S189G)
|
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: S189G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: S189G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190363
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
97% (74/76) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
Catsperb |
A |
C |
12: 101,554,322 (GRCm39) |
N672T |
probably benign |
Het |
Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
Grik1 |
C |
T |
16: 87,711,110 (GRCm39) |
V832I |
|
Het |
Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
Itih2 |
T |
C |
2: 10,110,463 (GRCm39) |
T543A |
probably benign |
Het |
Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
Mast3 |
C |
T |
8: 71,240,896 (GRCm39) |
G218S |
probably benign |
Het |
Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
Ttc41 |
C |
A |
10: 86,569,578 (GRCm39) |
T652N |
probably benign |
Het |
Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
probably damaging |
Het |
|
Other mutations in Rad54l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00402:Rad54l2
|
APN |
9 |
106,577,760 (GRCm39) |
missense |
probably benign |
|
IGL00718:Rad54l2
|
APN |
9 |
106,590,654 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00917:Rad54l2
|
APN |
9 |
106,587,638 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01319:Rad54l2
|
APN |
9 |
106,596,245 (GRCm39) |
missense |
probably benign |
0.18 |
IGL01447:Rad54l2
|
APN |
9 |
106,579,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01469:Rad54l2
|
APN |
9 |
106,599,957 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01836:Rad54l2
|
APN |
9 |
106,593,356 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02017:Rad54l2
|
APN |
9 |
106,631,239 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02179:Rad54l2
|
APN |
9 |
106,597,589 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02348:Rad54l2
|
APN |
9 |
106,597,575 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02822:Rad54l2
|
APN |
9 |
106,587,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03169:Rad54l2
|
APN |
9 |
106,596,263 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03245:Rad54l2
|
APN |
9 |
106,580,827 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03253:Rad54l2
|
APN |
9 |
106,581,422 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02988:Rad54l2
|
UTSW |
9 |
106,577,784 (GRCm39) |
missense |
probably benign |
|
PIT4495001:Rad54l2
|
UTSW |
9 |
106,593,343 (GRCm39) |
missense |
probably benign |
0.02 |
R0001:Rad54l2
|
UTSW |
9 |
106,585,416 (GRCm39) |
missense |
probably damaging |
0.97 |
R0069:Rad54l2
|
UTSW |
9 |
106,587,564 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0069:Rad54l2
|
UTSW |
9 |
106,587,564 (GRCm39) |
missense |
possibly damaging |
0.67 |
R0114:Rad54l2
|
UTSW |
9 |
106,590,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R0427:Rad54l2
|
UTSW |
9 |
106,570,891 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0519:Rad54l2
|
UTSW |
9 |
106,585,498 (GRCm39) |
missense |
probably damaging |
0.98 |
R0760:Rad54l2
|
UTSW |
9 |
106,596,805 (GRCm39) |
critical splice donor site |
probably null |
|
R1018:Rad54l2
|
UTSW |
9 |
106,589,589 (GRCm39) |
missense |
probably benign |
0.32 |
R1630:Rad54l2
|
UTSW |
9 |
106,580,828 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1701:Rad54l2
|
UTSW |
9 |
106,577,692 (GRCm39) |
critical splice donor site |
probably null |
|
R1903:Rad54l2
|
UTSW |
9 |
106,570,916 (GRCm39) |
splice site |
probably null |
|
R2187:Rad54l2
|
UTSW |
9 |
106,631,191 (GRCm39) |
small deletion |
probably benign |
|
R2205:Rad54l2
|
UTSW |
9 |
106,594,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R2566:Rad54l2
|
UTSW |
9 |
106,580,825 (GRCm39) |
missense |
possibly damaging |
0.95 |
R2983:Rad54l2
|
UTSW |
9 |
106,577,789 (GRCm39) |
missense |
probably benign |
0.10 |
R3176:Rad54l2
|
UTSW |
9 |
106,631,142 (GRCm39) |
critical splice donor site |
probably null |
|
R3276:Rad54l2
|
UTSW |
9 |
106,631,142 (GRCm39) |
critical splice donor site |
probably null |
|
R3718:Rad54l2
|
UTSW |
9 |
106,570,726 (GRCm39) |
missense |
probably benign |
|
R4063:Rad54l2
|
UTSW |
9 |
106,597,613 (GRCm39) |
missense |
probably benign |
0.10 |
R4206:Rad54l2
|
UTSW |
9 |
106,594,994 (GRCm39) |
missense |
probably damaging |
1.00 |
R4271:Rad54l2
|
UTSW |
9 |
106,570,825 (GRCm39) |
missense |
probably benign |
0.22 |
R4377:Rad54l2
|
UTSW |
9 |
106,570,421 (GRCm39) |
missense |
probably benign |
0.00 |
R4700:Rad54l2
|
UTSW |
9 |
106,631,224 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4729:Rad54l2
|
UTSW |
9 |
106,593,317 (GRCm39) |
missense |
probably benign |
|
R4872:Rad54l2
|
UTSW |
9 |
106,595,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R4997:Rad54l2
|
UTSW |
9 |
106,600,108 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5475:Rad54l2
|
UTSW |
9 |
106,583,057 (GRCm39) |
missense |
probably damaging |
1.00 |
R5658:Rad54l2
|
UTSW |
9 |
106,631,191 (GRCm39) |
small deletion |
probably benign |
|
R6246:Rad54l2
|
UTSW |
9 |
106,577,692 (GRCm39) |
critical splice donor site |
probably null |
|
R6248:Rad54l2
|
UTSW |
9 |
106,587,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R6329:Rad54l2
|
UTSW |
9 |
106,595,121 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6631:Rad54l2
|
UTSW |
9 |
106,590,739 (GRCm39) |
nonsense |
probably null |
|
R6773:Rad54l2
|
UTSW |
9 |
106,570,516 (GRCm39) |
missense |
probably benign |
|
R7148:Rad54l2
|
UTSW |
9 |
106,596,318 (GRCm39) |
nonsense |
probably null |
|
R7171:Rad54l2
|
UTSW |
9 |
106,590,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R7226:Rad54l2
|
UTSW |
9 |
106,590,671 (GRCm39) |
missense |
probably damaging |
0.99 |
R7327:Rad54l2
|
UTSW |
9 |
106,570,660 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7337:Rad54l2
|
UTSW |
9 |
106,583,024 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Rad54l2
|
UTSW |
9 |
106,597,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R7659:Rad54l2
|
UTSW |
9 |
106,590,777 (GRCm39) |
missense |
probably benign |
0.11 |
R7713:Rad54l2
|
UTSW |
9 |
106,594,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7748:Rad54l2
|
UTSW |
9 |
106,596,233 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8084:Rad54l2
|
UTSW |
9 |
106,590,701 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8552:Rad54l2
|
UTSW |
9 |
106,570,777 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8768:Rad54l2
|
UTSW |
9 |
106,596,809 (GRCm39) |
missense |
probably benign |
0.04 |
R8952:Rad54l2
|
UTSW |
9 |
106,566,050 (GRCm39) |
unclassified |
probably benign |
|
R8953:Rad54l2
|
UTSW |
9 |
106,570,461 (GRCm39) |
missense |
probably benign |
0.02 |
R9041:Rad54l2
|
UTSW |
9 |
106,600,018 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9296:Rad54l2
|
UTSW |
9 |
106,579,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R9451:Rad54l2
|
UTSW |
9 |
106,585,488 (GRCm39) |
missense |
probably benign |
0.13 |
R9523:Rad54l2
|
UTSW |
9 |
106,573,151 (GRCm39) |
missense |
probably damaging |
1.00 |
R9657:Rad54l2
|
UTSW |
9 |
106,581,372 (GRCm39) |
missense |
probably damaging |
0.99 |
R9757:Rad54l2
|
UTSW |
9 |
106,595,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGTTACTGTGAGCTCCAGG -3'
(R):5'- GCACTTGGAAATACGTTTGAGC -3'
Sequencing Primer
(F):5'- TCCAGGCTAGACTACAGGG -3'
(R):5'- GATGATTACACTCAGGTCTCCAGG -3'
|
Posted On |
2020-01-23 |