Incidental Mutation 'R9296:Rad54l2'
| ID |
704609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9296 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106579942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 976
(K976N)
|
| 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: K976N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: K976N
| 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 |
0.0801 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxr1 |
T |
G |
6: 87,114,409 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,124,612 (GRCm39) |
Y951F |
probably damaging |
Het |
| Arhgap44 |
G |
T |
11: 64,957,933 (GRCm39) |
A83E |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,906,502 (GRCm39) |
S532P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,059,560 (GRCm39) |
I617V |
possibly damaging |
Het |
| Brsk2 |
A |
C |
7: 141,552,375 (GRCm39) |
S620R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,511,291 (GRCm39) |
M1604V |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,564,068 (GRCm39) |
R917H |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,586 (GRCm39) |
F452I |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,883,467 (GRCm39) |
I235V |
probably null |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Ciita |
G |
A |
16: 10,321,812 (GRCm39) |
|
probably null |
Het |
| Cxcl10 |
T |
C |
5: 92,495,997 (GRCm39) |
K47E |
probably damaging |
Het |
| Cyp2d12 |
C |
T |
15: 82,440,435 (GRCm39) |
Q75* |
probably null |
Het |
| Cyp4f18 |
C |
T |
8: 72,756,301 (GRCm39) |
V92M |
probably benign |
Het |
| D930020B18Rik |
A |
G |
10: 121,497,011 (GRCm39) |
R149G |
possibly damaging |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dmtf1 |
A |
C |
5: 9,190,467 (GRCm39) |
D82E |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 30,996,011 (GRCm39) |
|
probably null |
Het |
| Eps15 |
T |
G |
4: 109,173,089 (GRCm39) |
D183E |
possibly damaging |
Het |
| Fbln5 |
A |
T |
12: 101,780,853 (GRCm39) |
I7K |
probably benign |
Het |
| Fermt3 |
C |
T |
19: 6,980,865 (GRCm39) |
E289K |
possibly damaging |
Het |
| Gm10762 |
T |
A |
2: 128,809,149 (GRCm39) |
R67W |
unknown |
Het |
| Gm5089 |
A |
G |
14: 122,673,554 (GRCm39) |
S56P |
unknown |
Het |
| H2-T5 |
C |
T |
17: 36,479,169 (GRCm39) |
G27R |
unknown |
Het |
| Itih1 |
A |
G |
14: 30,653,251 (GRCm39) |
F730L |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,400,246 (GRCm39) |
H683R |
probably damaging |
Het |
| Mapk3 |
T |
A |
7: 126,363,518 (GRCm39) |
F297L |
|
Het |
| Mfap3l |
G |
A |
8: 61,124,615 (GRCm39) |
V286I |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,146,130 (GRCm39) |
K1396R |
possibly damaging |
Het |
| Mylk3 |
A |
T |
8: 86,085,561 (GRCm39) |
S324R |
probably benign |
Het |
| Ndufv3 |
T |
C |
17: 31,739,197 (GRCm39) |
S4P |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,429,451 (GRCm39) |
|
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,956,388 (GRCm39) |
S119T |
|
Het |
| Or6k4 |
A |
T |
1: 173,964,835 (GRCm39) |
H175L |
probably benign |
Het |
| Pcdhgb4 |
T |
A |
18: 37,853,777 (GRCm39) |
S57R |
probably benign |
Het |
| Pcyox1 |
A |
G |
6: 86,368,735 (GRCm39) |
L261P |
probably damaging |
Het |
| Plekhm3 |
G |
T |
1: 64,961,639 (GRCm39) |
H206N |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,625,562 (GRCm39) |
T1863A |
probably benign |
Het |
| Prl7c1 |
T |
A |
13: 27,962,812 (GRCm39) |
I64L |
probably benign |
Het |
| Psg17 |
A |
T |
7: 18,553,991 (GRCm39) |
N86K |
probably benign |
Het |
| Rab37 |
A |
G |
11: 115,045,065 (GRCm39) |
E14G |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,334,621 (GRCm39) |
|
probably benign |
Het |
| Sdha |
A |
T |
13: 74,472,062 (GRCm39) |
D602E |
probably damaging |
Het |
| Slc22a30 |
T |
A |
19: 8,364,119 (GRCm39) |
T186S |
probably benign |
Het |
| Slc22a4 |
A |
T |
11: 53,888,217 (GRCm39) |
C270* |
probably null |
Het |
| Slc6a4 |
T |
C |
11: 76,909,110 (GRCm39) |
V374A |
probably benign |
Het |
| Spg11 |
T |
C |
2: 121,945,175 (GRCm39) |
D115G |
probably benign |
Het |
| Susd1 |
T |
C |
4: 59,427,865 (GRCm39) |
|
probably benign |
Het |
| Tor1a |
A |
T |
2: 30,851,104 (GRCm39) |
M286K |
probably damaging |
Het |
| Trim12c |
G |
T |
7: 103,994,185 (GRCm39) |
A223D |
|
Het |
| Usp32 |
A |
G |
11: 84,908,478 (GRCm39) |
I1076T |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Vmn2r101 |
G |
A |
17: 19,810,047 (GRCm39) |
D278N |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,387,138 (GRCm39) |
V4972I |
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 |
|
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 |
|
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'- CCTTCTTTCTATAGCAGCCAAGG -3'
(R):5'- GGAGACAACCAACCTTCTCTTG -3'
Sequencing Primer
(F):5'- CCAAGGAATAGTCTGTAGATTCTCCC -3'
(R):5'- ACCTTCTCTTGGTTTCAAAATAAGG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation