Incidental Mutation 'R7171:Rad54l2'
| ID |
558276 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
045230-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7171 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106590677 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 483
(R483H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046502
AA Change: R483H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: R483H
| 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 |
0.1196 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (81/81) |
| 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 |
|---|
| 4930519P11Rik |
T |
C |
2: 154,454,897 (GRCm39) |
N154S |
unknown |
Het |
| Ank3 |
C |
T |
10: 69,828,311 (GRCm39) |
H2327Y |
|
Het |
| Ano6 |
A |
G |
15: 95,818,172 (GRCm39) |
Y305C |
probably damaging |
Het |
| Apc2 |
A |
G |
10: 80,151,170 (GRCm39) |
T2075A |
possibly damaging |
Het |
| Arl6 |
A |
G |
16: 59,443,455 (GRCm39) |
V93A |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,474,763 (GRCm39) |
S790P |
probably damaging |
Het |
| Bcl9l |
C |
A |
9: 44,416,448 (GRCm39) |
H211N |
probably benign |
Het |
| Bptf |
G |
T |
11: 107,022,233 (GRCm39) |
D172E |
unknown |
Het |
| Card9 |
T |
G |
2: 26,249,496 (GRCm39) |
I22L |
possibly damaging |
Het |
| Catsperg1 |
C |
A |
7: 28,884,637 (GRCm39) |
G933V |
probably damaging |
Het |
| Catsperg2 |
T |
A |
7: 29,404,750 (GRCm39) |
H771L |
possibly damaging |
Het |
| Ccdc66 |
T |
C |
14: 27,215,229 (GRCm39) |
N281S |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,612,072 (GRCm39) |
L3162H |
probably damaging |
Het |
| Clca4a |
A |
G |
3: 144,663,934 (GRCm39) |
L503P |
probably benign |
Het |
| Cpn1 |
T |
C |
19: 43,962,470 (GRCm39) |
N160D |
probably damaging |
Het |
| Ctsh |
T |
A |
9: 89,949,154 (GRCm39) |
I206K |
probably benign |
Het |
| Cyb561d1 |
G |
A |
3: 108,106,679 (GRCm39) |
T180M |
probably damaging |
Het |
| Dapk1 |
A |
T |
13: 60,909,599 (GRCm39) |
D1404V |
probably damaging |
Het |
| Dip2c |
G |
T |
13: 9,556,684 (GRCm39) |
R76L |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,719,898 (GRCm39) |
I2783T |
probably damaging |
Het |
| E130308A19Rik |
T |
C |
4: 59,690,333 (GRCm39) |
Y56H |
probably damaging |
Het |
| Efemp2 |
G |
T |
19: 5,530,285 (GRCm39) |
A310S |
probably benign |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Faap24 |
G |
A |
7: 35,092,279 (GRCm39) |
Q213* |
probably null |
Het |
| Fam181b |
G |
A |
7: 92,729,943 (GRCm39) |
G239S |
possibly damaging |
Het |
| Fancm |
T |
C |
12: 65,148,394 (GRCm39) |
W670R |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,853,944 (GRCm39) |
L1636* |
probably null |
Het |
| Fmnl1 |
T |
C |
11: 103,081,224 (GRCm39) |
Y357H |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,279,653 (GRCm39) |
V215E |
probably damaging |
Het |
| Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,571 (GRCm39) |
Y4101* |
probably null |
Het |
| Gcn1 |
G |
A |
5: 115,728,352 (GRCm39) |
V738I |
probably benign |
Het |
| Gdf9 |
C |
T |
11: 53,328,366 (GRCm39) |
R441C |
probably damaging |
Het |
| Gipc3 |
C |
T |
10: 81,177,455 (GRCm39) |
G79E |
probably damaging |
Het |
| Gzmf |
T |
A |
14: 56,443,391 (GRCm39) |
I196L |
probably benign |
Het |
| Hectd1 |
A |
T |
12: 51,806,080 (GRCm39) |
V1852E |
probably damaging |
Het |
| Hip1r |
A |
T |
5: 124,134,007 (GRCm39) |
Q256L |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,746,890 (GRCm39) |
S405P |
probably damaging |
Het |
| Il9r |
T |
A |
11: 32,142,671 (GRCm39) |
H294L |
probably benign |
Het |
| Kif12 |
G |
A |
4: 63,086,931 (GRCm39) |
T331I |
probably damaging |
Het |
| Krtap8-1 |
A |
T |
16: 89,284,794 (GRCm39) |
M1K |
probably null |
Het |
| Lamc2 |
A |
T |
1: 153,015,495 (GRCm39) |
C613S |
probably damaging |
Het |
| Lgr4 |
T |
A |
2: 109,831,314 (GRCm39) |
N314K |
probably benign |
Het |
| Lpcat2 |
T |
C |
8: 93,635,894 (GRCm39) |
I432T |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,056,146 (GRCm39) |
V207A |
probably benign |
Het |
| Msh3 |
T |
G |
13: 92,485,806 (GRCm39) |
T173P |
probably benign |
Het |
| Mup15 |
T |
A |
4: 61,356,505 (GRCm39) |
M87L |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,965,365 (GRCm39) |
V1138A |
probably benign |
Het |
| Noc2l |
T |
C |
4: 156,326,179 (GRCm39) |
V422A |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,377,936 (GRCm39) |
G74D |
probably damaging |
Het |
| Ocstamp |
T |
A |
2: 165,240,081 (GRCm39) |
K35I |
probably benign |
Het |
| Or12k7 |
T |
C |
2: 36,958,400 (GRCm39) |
F28L |
possibly damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,968 (GRCm39) |
H145R |
probably benign |
Het |
| Or5p58 |
A |
G |
7: 107,694,342 (GRCm39) |
V145A |
probably benign |
Het |
| Or9a2 |
T |
G |
6: 41,748,961 (GRCm39) |
T91P |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,829,216 (GRCm39) |
V29D |
probably damaging |
Het |
| Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,567,189 (GRCm39) |
D1128E |
possibly damaging |
Het |
| Rhbdl2 |
T |
A |
4: 123,708,049 (GRCm39) |
I86N |
possibly damaging |
Het |
| Rims1 |
C |
A |
1: 22,498,740 (GRCm39) |
R68L |
|
Het |
| Rnf157 |
A |
G |
11: 116,253,199 (GRCm39) |
F70L |
possibly damaging |
Het |
| Rtp3 |
C |
T |
9: 110,815,009 (GRCm39) |
C452Y |
unknown |
Het |
| S100a14 |
A |
T |
3: 90,435,069 (GRCm39) |
K27* |
probably null |
Het |
| Scai |
C |
T |
2: 38,996,948 (GRCm39) |
G282D |
possibly damaging |
Het |
| Sclt1 |
A |
T |
3: 41,672,195 (GRCm39) |
I132N |
probably benign |
Het |
| Serpinf1 |
T |
A |
11: 75,308,811 (GRCm39) |
Q2L |
possibly damaging |
Het |
| Skor2 |
T |
A |
18: 76,948,681 (GRCm39) |
V801E |
probably benign |
Het |
| Slc16a10 |
C |
G |
10: 39,913,255 (GRCm39) |
E484D |
probably benign |
Het |
| Slc1a5 |
T |
A |
7: 16,531,463 (GRCm39) |
D489E |
probably damaging |
Het |
| Slx4 |
C |
T |
16: 3,808,650 (GRCm39) |
R430H |
probably benign |
Het |
| Teddm1b |
A |
T |
1: 153,750,679 (GRCm39) |
I163F |
probably damaging |
Het |
| Tmem171 |
A |
T |
13: 98,828,744 (GRCm39) |
C135* |
probably null |
Het |
| Tmem82 |
C |
T |
4: 141,342,284 (GRCm39) |
R306H |
possibly damaging |
Het |
| Tmem94 |
T |
A |
11: 115,681,781 (GRCm39) |
|
probably null |
Het |
| Trpm2 |
A |
C |
10: 77,759,848 (GRCm39) |
L1096R |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,730,859 (GRCm39) |
L780Q |
probably damaging |
Het |
| Txlnb |
A |
G |
10: 17,718,732 (GRCm39) |
D521G |
probably benign |
Het |
| Usp7 |
T |
C |
16: 8,534,390 (GRCm39) |
D59G |
probably benign |
Het |
| Vcan |
G |
A |
13: 89,873,710 (GRCm39) |
T48I |
probably damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,316 (GRCm39) |
L218P |
probably damaging |
Het |
| Wdr25 |
A |
T |
12: 108,990,922 (GRCm39) |
T370S |
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 |
|
|
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'- ACATCCTGAGGTGTGCTGTC -3'
(R):5'- GCTTCCCTTTTGTCAATGGG -3'
Sequencing Primer
(F):5'- ATCCTGAGGTGTGCTGTCAATACAC -3'
(R):5'- CAATGGGGGCTGACTCTTGC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation