Incidental Mutation 'R2566:Rad54l2'
| ID |
254477 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
040425-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2566 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106580825 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 899
(T899S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046502
AA Change: T899S
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: T899S
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
C |
9: 124,055,701 (GRCm39) |
K408E |
probably damaging |
Het |
| 2010315B03Rik |
T |
A |
9: 124,055,783 (GRCm39) |
K380N |
probably damaging |
Het |
| 9230104M06Rik |
C |
T |
12: 112,964,359 (GRCm39) |
|
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,846,810 (GRCm39) |
C413* |
probably null |
Het |
| Alms1 |
T |
A |
6: 85,599,464 (GRCm39) |
M1430K |
possibly damaging |
Het |
| Ankrd52 |
G |
T |
10: 128,225,220 (GRCm39) |
A894S |
probably benign |
Het |
| Arhgap33 |
C |
A |
7: 30,226,654 (GRCm39) |
V494L |
probably damaging |
Het |
| Atic |
G |
T |
1: 71,608,130 (GRCm39) |
V275F |
probably damaging |
Het |
| Atoh1 |
T |
A |
6: 64,706,668 (GRCm39) |
V121E |
probably damaging |
Het |
| Atp5pd |
T |
A |
11: 115,306,864 (GRCm39) |
|
probably null |
Het |
| Baiap2l2 |
A |
T |
15: 79,146,174 (GRCm39) |
|
probably null |
Het |
| Brca2 |
A |
T |
5: 150,465,227 (GRCm39) |
T1664S |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Celf3 |
ACAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCA |
3: 94,395,537 (GRCm39) |
|
probably benign |
Het |
| Cep350 |
A |
T |
1: 155,835,464 (GRCm39) |
|
probably null |
Het |
| Ces2g |
T |
C |
8: 105,692,621 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
| Cyp2d34 |
A |
G |
15: 82,500,368 (GRCm39) |
F457S |
probably damaging |
Het |
| Disp3 |
T |
A |
4: 148,325,880 (GRCm39) |
T1293S |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,517,970 (GRCm39) |
I1348F |
possibly damaging |
Het |
| Dsp |
A |
T |
13: 38,380,380 (GRCm39) |
H1776L |
probably damaging |
Het |
| Efhd1 |
A |
T |
1: 87,237,477 (GRCm39) |
Q228L |
possibly damaging |
Het |
| Entpd2 |
T |
A |
2: 25,289,295 (GRCm39) |
I259N |
probably benign |
Het |
| Fam149b |
A |
T |
14: 20,425,578 (GRCm39) |
M138L |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,458,285 (GRCm39) |
K102E |
probably benign |
Het |
| Fzd7 |
C |
A |
1: 59,523,695 (GRCm39) |
T526K |
possibly damaging |
Het |
| G6pd2 |
T |
A |
5: 61,966,330 (GRCm39) |
I35N |
probably damaging |
Het |
| Gars1 |
T |
A |
6: 55,042,548 (GRCm39) |
M427K |
probably damaging |
Het |
| Gimap4 |
C |
T |
6: 48,667,799 (GRCm39) |
R57C |
probably damaging |
Het |
| Gm11232 |
C |
A |
4: 71,676,022 (GRCm39) |
W41L |
probably benign |
Het |
| Gm15737 |
T |
A |
6: 92,856,701 (GRCm39) |
C43* |
probably null |
Het |
| Gpr180 |
T |
C |
14: 118,377,185 (GRCm39) |
V62A |
probably benign |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Jakmip3 |
A |
T |
7: 138,591,197 (GRCm39) |
E27V |
possibly damaging |
Het |
| Kcnq3 |
T |
C |
15: 65,903,276 (GRCm39) |
T145A |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,906,459 (GRCm39) |
M350T |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,492 (GRCm39) |
|
probably benign |
Het |
| Lbr |
G |
T |
1: 181,663,692 (GRCm39) |
D109E |
probably damaging |
Het |
| Ldc1 |
A |
T |
4: 130,103,681 (GRCm39) |
L420Q |
probably benign |
Het |
| Med23 |
A |
G |
10: 24,764,473 (GRCm39) |
H42R |
probably damaging |
Het |
| Mgat5 |
A |
T |
1: 127,234,741 (GRCm39) |
M77L |
probably benign |
Het |
| Mlf1 |
A |
T |
3: 67,291,919 (GRCm39) |
N28I |
possibly damaging |
Het |
| Mroh3 |
A |
C |
1: 136,125,864 (GRCm39) |
L343R |
probably damaging |
Het |
| Mrpl37 |
T |
A |
4: 106,921,690 (GRCm39) |
I180F |
possibly damaging |
Het |
| Mrps27 |
T |
A |
13: 99,536,836 (GRCm39) |
C116* |
probably null |
Het |
| Muc6 |
A |
G |
7: 141,226,651 (GRCm39) |
S1354P |
possibly damaging |
Het |
| Myh7 |
A |
T |
14: 55,220,699 (GRCm39) |
D1033E |
probably damaging |
Het |
| Myo16 |
A |
T |
8: 10,644,820 (GRCm39) |
E1717D |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,462,539 (GRCm39) |
|
probably null |
Het |
| Or51ag1 |
A |
G |
7: 103,155,367 (GRCm39) |
M262T |
probably benign |
Het |
| Or6c217 |
A |
C |
10: 129,737,964 (GRCm39) |
L205R |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,149,766 (GRCm39) |
L576P |
probably damaging |
Het |
| Parp8 |
A |
G |
13: 117,032,223 (GRCm39) |
S278P |
possibly damaging |
Het |
| Pdk2 |
A |
G |
11: 94,918,028 (GRCm39) |
|
probably null |
Het |
| Phf1 |
T |
C |
17: 27,156,062 (GRCm39) |
S450P |
probably damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,746,233 (GRCm39) |
Y1919C |
probably damaging |
Het |
| Postn |
T |
A |
3: 54,284,374 (GRCm39) |
S614T |
probably damaging |
Het |
| Psmg1 |
A |
T |
16: 95,783,395 (GRCm39) |
Y213* |
probably null |
Het |
| Rab11b |
T |
A |
17: 33,966,692 (GRCm39) |
T203S |
probably benign |
Het |
| Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,137,371 (GRCm39) |
|
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,578,537 (GRCm39) |
T1028A |
possibly damaging |
Het |
| Rbm6 |
A |
G |
9: 107,669,197 (GRCm39) |
S58P |
possibly damaging |
Het |
| Rreb1 |
G |
T |
13: 38,113,768 (GRCm39) |
A376S |
possibly damaging |
Het |
| Rsbn1l |
T |
A |
5: 21,124,767 (GRCm39) |
N345I |
probably benign |
Het |
| Sf3b2 |
A |
T |
19: 5,325,118 (GRCm39) |
S785T |
possibly damaging |
Het |
| Sh2b1 |
C |
T |
7: 126,068,098 (GRCm39) |
D519N |
probably damaging |
Het |
| Slitrk6 |
T |
C |
14: 110,987,704 (GRCm39) |
T668A |
probably benign |
Het |
| Stkld1 |
T |
A |
2: 26,840,650 (GRCm39) |
I444N |
probably damaging |
Het |
| Sucla2 |
A |
T |
14: 73,790,244 (GRCm39) |
|
probably benign |
Het |
| Tmem67 |
T |
A |
4: 12,079,918 (GRCm39) |
L190F |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trem2 |
G |
A |
17: 48,658,863 (GRCm39) |
W191* |
probably null |
Het |
| Ube2d4 |
A |
T |
15: 58,718,528 (GRCm39) |
|
noncoding transcript |
Het |
| Uimc1 |
G |
T |
13: 55,223,617 (GRCm39) |
D218E |
probably damaging |
Het |
| Wdr62 |
A |
T |
7: 29,973,424 (GRCm39) |
V95E |
probably damaging |
Het |
| Zfhx4 |
T |
C |
3: 5,310,203 (GRCm39) |
V862A |
probably damaging |
Het |
| Zfp462 |
T |
A |
4: 55,008,522 (GRCm39) |
S163T |
probably benign |
Het |
| Zfp704 |
T |
C |
3: 9,674,553 (GRCm39) |
D76G |
unknown |
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 |
|
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 |
|
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'- TGAGCTGTCATACCACGGAC -3'
(R):5'- TGTGGAATGTAGGCTTAATAGGAGC -3'
Sequencing Primer
(F):5'- CGGACTCCACATCCATGAG -3'
(R):5'- AGGCTTAATAGGAGCTAGTAGTTTTC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation