Incidental Mutation 'R8953:Rad54l2'
| ID |
681770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
068789-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8953 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106570461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 1286
(H1286Q)
|
| 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: H1286Q
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: H1286Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (64/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
C |
6: 91,892,002 (GRCm39) |
V88A |
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,518,015 (GRCm39) |
V765L |
probably benign |
Het |
| Atp2b2 |
T |
A |
6: 113,737,630 (GRCm39) |
T915S |
possibly damaging |
Het |
| Cacna1s |
C |
T |
1: 136,025,170 (GRCm39) |
H992Y |
possibly damaging |
Het |
| Castor1 |
A |
T |
11: 4,171,249 (GRCm39) |
I244F |
probably benign |
Het |
| Clpp |
T |
A |
17: 57,298,373 (GRCm39) |
M113K |
probably damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,222,272 (GRCm39) |
L321P |
probably damaging |
Het |
| Csn3 |
A |
G |
5: 88,077,809 (GRCm39) |
Q105R |
possibly damaging |
Het |
| Dcaf1 |
G |
A |
9: 106,735,542 (GRCm39) |
R830Q |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,016,238 (GRCm39) |
|
probably benign |
Het |
| Etv4 |
A |
G |
11: 101,662,513 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
G |
12: 85,522,826 (GRCm39) |
D246G |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,253,675 (GRCm39) |
S613P |
probably damaging |
Het |
| Gabra2 |
A |
T |
5: 71,163,525 (GRCm39) |
C261S |
probably damaging |
Het |
| Garem1 |
A |
T |
18: 21,264,388 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
G |
8: 70,269,427 (GRCm39) |
L533R |
probably damaging |
Het |
| Havcr1 |
A |
G |
11: 46,647,006 (GRCm39) |
T147A |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,874,884 (GRCm39) |
R1870Q |
probably damaging |
Het |
| Itprid2 |
T |
C |
2: 79,490,839 (GRCm39) |
Y986H |
probably damaging |
Het |
| Kcnk3 |
A |
C |
5: 30,779,382 (GRCm39) |
K144T |
probably damaging |
Het |
| Lama5 |
A |
G |
2: 179,835,313 (GRCm39) |
V1293A |
probably damaging |
Het |
| Man2b1 |
A |
G |
8: 85,818,539 (GRCm39) |
I498V |
probably benign |
Het |
| Map6 |
T |
C |
7: 98,965,078 (GRCm39) |
L289P |
probably damaging |
Het |
| Mapk7 |
G |
T |
11: 61,383,792 (GRCm39) |
D43E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,350,765 (GRCm39) |
Y194C |
probably damaging |
Het |
| Mertk |
A |
G |
2: 128,620,716 (GRCm39) |
|
probably benign |
Het |
| Mier3 |
C |
A |
13: 111,842,587 (GRCm39) |
T136K |
probably benign |
Het |
| Ndc1 |
T |
A |
4: 107,238,890 (GRCm39) |
W242R |
probably damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,052,632 (GRCm39) |
V932A |
probably damaging |
Het |
| Or2m12 |
T |
A |
16: 19,105,269 (GRCm39) |
M75L |
probably benign |
Het |
| Or5p55 |
G |
A |
7: 107,567,251 (GRCm39) |
V216I |
probably benign |
Het |
| Or5w15 |
A |
T |
2: 87,568,371 (GRCm39) |
M99K |
probably benign |
Het |
| Or9a4 |
G |
T |
6: 40,548,676 (GRCm39) |
A119S |
possibly damaging |
Het |
| Otub2 |
A |
T |
12: 103,370,585 (GRCm39) |
D289V |
probably damaging |
Het |
| P2rx3 |
A |
G |
2: 84,853,842 (GRCm39) |
V133A |
possibly damaging |
Het |
| Pde4a |
C |
A |
9: 21,122,030 (GRCm39) |
T585K |
probably damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,987,320 (GRCm39) |
Y534N |
probably benign |
Het |
| Pip5kl1 |
A |
G |
2: 32,469,991 (GRCm39) |
D232G |
possibly damaging |
Het |
| Pklr |
C |
T |
3: 89,049,612 (GRCm39) |
S234L |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,410,815 (GRCm39) |
K271E |
probably damaging |
Het |
| Plch1 |
T |
G |
3: 63,639,126 (GRCm39) |
H449P |
possibly damaging |
Het |
| Pparg |
T |
C |
6: 115,418,507 (GRCm39) |
L92P |
possibly damaging |
Het |
| Pramel51 |
A |
G |
12: 88,144,070 (GRCm39) |
C248R |
probably benign |
Het |
| Ptgdr2 |
C |
T |
19: 10,917,786 (GRCm39) |
T101I |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,867,546 (GRCm39) |
S3P |
probably damaging |
Het |
| Rictor |
G |
A |
15: 6,823,928 (GRCm39) |
V1598I |
probably benign |
Het |
| Rph3al |
G |
T |
11: 75,797,401 (GRCm39) |
C98* |
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,163,746 (GRCm39) |
T613A |
probably damaging |
Het |
| Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
| Rusf1 |
T |
G |
7: 127,872,678 (GRCm39) |
Q423H |
probably benign |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,159 (GRCm39) |
I336V |
probably damaging |
Het |
| Slc6a20b |
T |
C |
9: 123,438,254 (GRCm39) |
N174S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,058,241 (GRCm39) |
N1903S |
probably benign |
Het |
| Tacc2 |
T |
C |
7: 130,227,487 (GRCm39) |
S1391P |
probably benign |
Het |
| Terb1 |
T |
A |
8: 105,195,431 (GRCm39) |
D570V |
probably damaging |
Het |
| Trhde |
T |
A |
10: 114,338,966 (GRCm39) |
I615F |
probably damaging |
Het |
| Ttc13 |
T |
C |
8: 125,402,088 (GRCm39) |
N556S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,228 (GRCm39) |
D19228V |
probably damaging |
Het |
| Unc13c |
T |
A |
9: 73,840,044 (GRCm39) |
Y269F |
probably benign |
Het |
| Usp33 |
T |
A |
3: 152,080,420 (GRCm39) |
V517E |
possibly damaging |
Het |
| Wee1 |
A |
G |
7: 109,723,691 (GRCm39) |
D202G |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,731,356 (GRCm39) |
S1120T |
probably benign |
Het |
| Zfr2 |
C |
A |
10: 81,084,271 (GRCm39) |
N650K |
probably damaging |
Het |
| Znfx1 |
G |
A |
2: 166,897,421 (GRCm39) |
T501I |
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 |
|
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 |
|
|
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'- GAAAGGCGCAAACATCCTGG -3'
(R):5'- GGTCATTGCCTCAATAGTTCCC -3'
Sequencing Primer
(F):5'- AAACATCCTGGGCTCGGACAG -3'
(R):5'- CAATAGTTCCCTCTTGGTGACTGG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation