Incidental Mutation 'R6246:Rad54l2'
| ID |
505791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
044436-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106577692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000046502
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
| 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 |
0.9485 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (78/78) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
A |
10: 79,850,999 (GRCm39) |
V2110E |
probably damaging |
Het |
| Acaca |
C |
A |
11: 84,206,796 (GRCm39) |
T1552K |
probably benign |
Het |
| Aknad1 |
A |
G |
3: 108,659,148 (GRCm39) |
D54G |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,187,462 (GRCm39) |
T435A |
possibly damaging |
Het |
| Azgp1 |
A |
G |
5: 137,983,475 (GRCm39) |
D50G |
possibly damaging |
Het |
| Bbx |
A |
G |
16: 50,045,023 (GRCm39) |
S513P |
probably benign |
Het |
| Ccdc85a |
C |
T |
11: 28,526,897 (GRCm39) |
S209N |
probably damaging |
Het |
| Cdca2 |
T |
A |
14: 67,915,277 (GRCm39) |
R661* |
probably null |
Het |
| Cdhr2 |
T |
C |
13: 54,867,523 (GRCm39) |
V451A |
probably damaging |
Het |
| Cenpt |
C |
T |
8: 106,575,891 (GRCm39) |
G152S |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,045 (GRCm39) |
T2A |
probably damaging |
Het |
| Chst14 |
G |
A |
2: 118,757,482 (GRCm39) |
C117Y |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,971,067 (GRCm39) |
T266M |
probably damaging |
Het |
| Clec12a |
A |
T |
6: 129,330,733 (GRCm39) |
N105I |
possibly damaging |
Het |
| Cmah |
G |
A |
13: 24,650,773 (GRCm39) |
V525M |
probably damaging |
Het |
| Cplane1 |
T |
A |
15: 8,239,498 (GRCm39) |
L1233H |
probably damaging |
Het |
| Cpt1a |
T |
C |
19: 3,426,550 (GRCm39) |
L572P |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,816,657 (GRCm39) |
L1365P |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dlg1 |
G |
A |
16: 31,484,468 (GRCm39) |
S32N |
probably benign |
Het |
| Dnah14 |
T |
C |
1: 181,508,453 (GRCm39) |
I1877T |
probably benign |
Het |
| Duox1 |
G |
T |
2: 122,157,655 (GRCm39) |
G594C |
probably damaging |
Het |
| Eci2 |
T |
C |
13: 35,174,181 (GRCm39) |
N127D |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,811,365 (GRCm39) |
|
probably null |
Het |
| Fat4 |
T |
C |
3: 38,945,870 (GRCm39) |
S1588P |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,866,902 (GRCm39) |
I1489F |
probably damaging |
Het |
| Flrt3 |
A |
G |
2: 140,501,721 (GRCm39) |
Y636H |
probably damaging |
Het |
| Frmd5 |
T |
A |
2: 121,381,529 (GRCm39) |
H62L |
possibly damaging |
Het |
| Gm6309 |
A |
T |
5: 146,107,050 (GRCm39) |
Y99N |
probably damaging |
Het |
| Gm8225 |
T |
C |
17: 26,762,652 (GRCm39) |
V281A |
probably benign |
Het |
| Grep1 |
C |
A |
17: 23,929,465 (GRCm39) |
G315* |
probably null |
Het |
| Grsf1 |
A |
G |
5: 88,810,451 (GRCm39) |
L353P |
possibly damaging |
Het |
| Gtf2a1l |
A |
G |
17: 88,978,975 (GRCm39) |
R58G |
probably benign |
Het |
| Guf1 |
G |
A |
5: 69,715,898 (GRCm39) |
G113R |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,892,212 (GRCm39) |
F51I |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,943,801 (GRCm39) |
S250P |
probably damaging |
Het |
| Il1rap |
T |
A |
16: 26,533,631 (GRCm39) |
M509K |
probably benign |
Het |
| Il4ra |
T |
C |
7: 125,175,577 (GRCm39) |
V595A |
probably benign |
Het |
| Ints11 |
A |
G |
4: 155,972,546 (GRCm39) |
T460A |
probably benign |
Het |
| Itprid1 |
A |
T |
6: 55,944,657 (GRCm39) |
K459N |
probably damaging |
Het |
| Kdm5a |
G |
A |
6: 120,408,871 (GRCm39) |
G1518E |
probably damaging |
Het |
| Khsrp |
T |
C |
17: 57,332,324 (GRCm39) |
D289G |
possibly damaging |
Het |
| Kif14 |
C |
T |
1: 136,404,162 (GRCm39) |
Q29* |
probably null |
Het |
| Krt72 |
T |
C |
15: 101,689,372 (GRCm39) |
K320R |
probably damaging |
Het |
| Lcmt2 |
A |
G |
2: 120,970,870 (GRCm39) |
L71P |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,156,136 (GRCm39) |
D1037V |
probably damaging |
Het |
| Lpo |
T |
C |
11: 87,713,058 (GRCm39) |
T15A |
unknown |
Het |
| Mia3 |
G |
T |
1: 183,126,720 (GRCm39) |
T7N |
probably damaging |
Het |
| Muc16 |
A |
T |
9: 18,488,363 (GRCm39) |
|
probably null |
Het |
| Mup9 |
T |
A |
4: 60,375,809 (GRCm39) |
Y29F |
probably damaging |
Het |
| Nisch |
T |
C |
14: 30,894,516 (GRCm39) |
D1105G |
probably damaging |
Het |
| Odad1 |
A |
G |
7: 45,585,788 (GRCm39) |
I116V |
probably damaging |
Het |
| Oip5 |
T |
C |
2: 119,446,101 (GRCm39) |
T136A |
probably benign |
Het |
| Or2a52 |
G |
A |
6: 43,144,436 (GRCm39) |
|
probably null |
Het |
| Osbpl10 |
C |
A |
9: 115,055,842 (GRCm39) |
N532K |
probably benign |
Het |
| P2ry12 |
C |
T |
3: 59,124,950 (GRCm39) |
V242I |
probably benign |
Het |
| Pdhx |
A |
T |
2: 102,877,137 (GRCm39) |
C26S |
probably damaging |
Het |
| Pgk2 |
A |
T |
17: 40,518,315 (GRCm39) |
I371K |
probably damaging |
Het |
| Phyhip |
T |
C |
14: 70,704,495 (GRCm39) |
V238A |
probably damaging |
Het |
| Pla2g4a |
G |
A |
1: 149,748,338 (GRCm39) |
T282I |
probably damaging |
Het |
| Pld5 |
A |
T |
1: 175,791,475 (GRCm39) |
C448* |
probably null |
Het |
| Plk1 |
T |
A |
7: 121,768,659 (GRCm39) |
I553N |
probably damaging |
Het |
| Ppp1r13l |
T |
A |
7: 19,103,783 (GRCm39) |
I88K |
probably benign |
Het |
| Septin7 |
A |
G |
9: 25,218,817 (GRCm39) |
E428G |
probably benign |
Het |
| Serpina3j |
G |
A |
12: 104,283,706 (GRCm39) |
G268D |
probably damaging |
Het |
| Smc2 |
A |
T |
4: 52,460,289 (GRCm39) |
D555V |
probably damaging |
Het |
| Spag16 |
A |
T |
1: 69,962,980 (GRCm39) |
I376F |
probably benign |
Het |
| Spag6 |
G |
A |
2: 18,703,906 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,289,204 (GRCm39) |
I454V |
probably benign |
Het |
| Tlcd3b |
T |
A |
7: 126,426,668 (GRCm39) |
F30L |
probably damaging |
Het |
| Tm9sf1 |
C |
T |
14: 55,873,827 (GRCm39) |
R557H |
probably damaging |
Het |
| Traf5 |
C |
T |
1: 191,754,853 (GRCm39) |
E28K |
probably damaging |
Het |
| Trav23 |
G |
A |
14: 54,214,885 (GRCm39) |
E33K |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,801 (GRCm39) |
S453P |
probably damaging |
Het |
| Tssk1 |
A |
G |
16: 17,713,303 (GRCm39) |
T363A |
probably benign |
Het |
| Txnrd3 |
A |
G |
6: 89,628,523 (GRCm39) |
N88S |
probably benign |
Het |
| Unc13b |
A |
G |
4: 43,216,246 (GRCm39) |
S182G |
probably benign |
Het |
| Vmn2r89 |
A |
T |
14: 51,693,503 (GRCm39) |
R284S |
probably damaging |
Het |
| Zbtb14 |
A |
G |
17: 69,694,478 (GRCm39) |
T59A |
possibly damaging |
Het |
| Zcchc2 |
T |
A |
1: 105,957,796 (GRCm39) |
S756T |
possibly damaging |
Het |
| Zfp709 |
TCGACG |
TCG |
8: 72,644,552 (GRCm39) |
|
probably benign |
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 |
|
|
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 |
|
R8021:Rad54l2
|
UTSW |
9 |
106,596,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- AACACTGGTACACACATGAGTA -3'
(R):5'- GGGTGATGAAAAGCCTGTGG -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GCCAGCGTTCGTCCTGTAC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation