Incidental Mutation 'R0427:Rad54l2'
| ID |
38757 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
038629-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0427 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106570891 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1143
(L1143P)
|
| 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: L1143P
PolyPhen 2
Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: L1143P
| 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: ENSMUST00000189553
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.9%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
G |
8: 44,105,493 (GRCm39) |
T51P |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,464,720 (GRCm39) |
V1186E |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,296,423 (GRCm39) |
D102G |
probably damaging |
Het |
| Armc2 |
A |
G |
10: 41,876,406 (GRCm39) |
I127T |
possibly damaging |
Het |
| Atp6v1b2 |
T |
C |
8: 69,554,084 (GRCm39) |
L87P |
probably damaging |
Het |
| Atp9a |
T |
A |
2: 168,482,617 (GRCm39) |
|
probably null |
Het |
| BC048679 |
C |
G |
7: 81,144,993 (GRCm39) |
V123L |
probably benign |
Het |
| Birc7 |
G |
A |
2: 180,571,307 (GRCm39) |
|
probably null |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Cacna1d |
T |
A |
14: 30,068,774 (GRCm39) |
N155I |
probably damaging |
Het |
| Cd300lg |
T |
C |
11: 101,933,852 (GRCm39) |
V33A |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,041 (GRCm39) |
D742G |
probably benign |
Het |
| Cep95 |
A |
G |
11: 106,681,578 (GRCm39) |
N14S |
probably benign |
Het |
| Cfap74 |
A |
T |
4: 155,525,734 (GRCm39) |
M728L |
probably benign |
Het |
| Ctsll3 |
T |
A |
13: 60,949,205 (GRCm39) |
T9S |
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,716,412 (GRCm39) |
S393P |
possibly damaging |
Het |
| Dmbt1 |
T |
A |
7: 130,642,632 (GRCm39) |
L150* |
probably null |
Het |
| Dnah2 |
A |
G |
11: 69,343,705 (GRCm39) |
I2868T |
probably damaging |
Het |
| Dop1a |
A |
G |
9: 86,389,585 (GRCm39) |
H505R |
probably damaging |
Het |
| Exo1 |
A |
G |
1: 175,733,519 (GRCm39) |
K781R |
probably damaging |
Het |
| Fam184a |
A |
G |
10: 53,566,211 (GRCm39) |
Y459H |
probably damaging |
Het |
| Foxp1 |
C |
T |
6: 98,907,164 (GRCm39) |
D540N |
probably damaging |
Het |
| Fstl5 |
T |
A |
3: 76,615,034 (GRCm39) |
Y698* |
probably null |
Het |
| Gm5141 |
T |
C |
13: 62,922,525 (GRCm39) |
K215E |
probably damaging |
Het |
| Grik5 |
C |
A |
7: 24,757,923 (GRCm39) |
R386L |
probably benign |
Het |
| Ikbke |
A |
T |
1: 131,185,647 (GRCm39) |
S620R |
possibly damaging |
Het |
| Kcnh3 |
A |
T |
15: 99,131,180 (GRCm39) |
M518L |
probably benign |
Het |
| Lrrcc1 |
G |
T |
3: 14,623,416 (GRCm39) |
A748S |
probably damaging |
Het |
| Mbd5 |
T |
G |
2: 49,169,091 (GRCm39) |
S1191A |
probably benign |
Het |
| Med27 |
T |
C |
2: 29,390,283 (GRCm39) |
I70T |
probably damaging |
Het |
| Mplkipl1 |
A |
G |
19: 61,163,908 (GRCm39) |
Y176H |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,479 (GRCm39) |
D1737G |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,081,478 (GRCm39) |
D1021G |
probably benign |
Het |
| Ncor1 |
T |
C |
11: 62,301,746 (GRCm39) |
E212G |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,133,896 (GRCm39) |
N3362K |
possibly damaging |
Het |
| Neb |
A |
G |
2: 52,134,081 (GRCm39) |
S3301P |
probably damaging |
Het |
| Neurod1 |
T |
G |
2: 79,284,526 (GRCm39) |
K286Q |
probably damaging |
Het |
| Noc3l |
T |
C |
19: 38,778,095 (GRCm39) |
Q773R |
probably benign |
Het |
| Nup205 |
T |
A |
6: 35,171,398 (GRCm39) |
N420K |
probably benign |
Het |
| Olfml3 |
A |
T |
3: 103,644,330 (GRCm39) |
V113E |
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,279 (GRCm39) |
V439A |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,417 (GRCm39) |
Y36C |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,520 (GRCm39) |
H21L |
probably benign |
Het |
| Or1j14 |
C |
T |
2: 36,417,994 (GRCm39) |
S190L |
probably damaging |
Het |
| Or1o11 |
T |
A |
17: 37,756,593 (GRCm39) |
D60E |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,818 (GRCm39) |
S383P |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,812,476 (GRCm39) |
V3803A |
probably damaging |
Het |
| Plekhg1 |
A |
G |
10: 3,914,235 (GRCm39) |
D1319G |
probably benign |
Het |
| Polq |
T |
A |
16: 36,882,355 (GRCm39) |
C1227* |
probably null |
Het |
| Pramel22 |
A |
T |
4: 143,380,993 (GRCm39) |
N343K |
probably benign |
Het |
| Psmc1 |
T |
C |
12: 100,085,487 (GRCm39) |
F283L |
probably damaging |
Het |
| Psmd8 |
T |
C |
7: 28,875,552 (GRCm39) |
N189S |
probably damaging |
Het |
| Ptger4 |
G |
A |
15: 5,272,382 (GRCm39) |
T104I |
probably benign |
Het |
| Ptpro |
T |
G |
6: 137,345,294 (GRCm39) |
V100G |
possibly damaging |
Het |
| Rab11fip1 |
T |
A |
8: 27,644,520 (GRCm39) |
T422S |
probably damaging |
Het |
| Rnf148 |
A |
G |
6: 23,654,072 (GRCm39) |
M308T |
probably damaging |
Het |
| Sbsn |
T |
A |
7: 30,451,523 (GRCm39) |
|
probably benign |
Het |
| Scube2 |
T |
A |
7: 109,424,044 (GRCm39) |
T487S |
probably benign |
Het |
| Sema4c |
C |
A |
1: 36,592,892 (GRCm39) |
E109* |
probably null |
Het |
| Sipa1l2 |
A |
T |
8: 126,207,071 (GRCm39) |
L544Q |
probably damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,288,702 (GRCm39) |
T603A |
probably benign |
Het |
| Tbc1d7 |
T |
A |
13: 43,306,563 (GRCm39) |
T138S |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,710,084 (GRCm39) |
T239S |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,066,498 (GRCm39) |
S743P |
probably damaging |
Het |
| Tspan10 |
T |
A |
11: 120,335,120 (GRCm39) |
Y77N |
probably damaging |
Het |
| Ttc14 |
T |
C |
3: 33,857,633 (GRCm39) |
S245P |
probably damaging |
Het |
| Ttf1 |
T |
A |
2: 28,955,054 (GRCm39) |
S139R |
probably benign |
Het |
| Tubd1 |
C |
A |
11: 86,448,616 (GRCm39) |
Q279K |
possibly damaging |
Het |
| Twnk |
A |
G |
19: 44,996,026 (GRCm39) |
E153G |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,132,478 (GRCm39) |
D900G |
probably damaging |
Het |
| Usp54 |
A |
G |
14: 20,620,432 (GRCm39) |
V691A |
probably benign |
Het |
| Usp8 |
T |
C |
2: 126,559,952 (GRCm39) |
|
probably benign |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,490 (GRCm39) |
V142I |
probably benign |
Het |
| Vmn2r15 |
C |
T |
5: 109,434,953 (GRCm39) |
A584T |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,467,008 (GRCm39) |
S164P |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,280,770 (GRCm39) |
Y233C |
probably benign |
Het |
| Vwf |
C |
G |
6: 125,650,902 (GRCm39) |
H2511D |
probably benign |
Het |
| Wipf3 |
T |
G |
6: 54,460,882 (GRCm39) |
L110R |
possibly damaging |
Het |
| Zfp945 |
T |
A |
17: 23,084,226 (GRCm39) |
N11I |
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 |
|
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 |
|
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'- TACCCATGTTCATAGGGCTGCACG -3'
(R):5'- TCTGTCTCAGAGAGGGAAGCTGAC -3'
Sequencing Primer
(F):5'- ACTGATTCCTGGGTGACAGAC -3'
(R):5'- CTGGATGTAAGTGTCACACGAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation