Incidental Mutation 'R4206:Rad54l2'
| ID |
318922 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
041035-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4206 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106688082-106789194 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 106717795 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 321
(V321G)
|
| 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: V321G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: V321G
| 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: ENSMUST00000190363
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,473,515 (GRCm38) |
K81R |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,213,651 (GRCm38) |
F1150L |
probably benign |
Het |
| Acat3 |
A |
G |
17: 12,927,386 (GRCm38) |
Y237H |
possibly damaging |
Het |
| Arfgap3 |
T |
C |
15: 83,322,668 (GRCm38) |
T240A |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 118,121,899 (GRCm38) |
|
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,754,841 (GRCm38) |
S23G |
possibly damaging |
Het |
| Clasp1 |
A |
G |
1: 118,578,906 (GRCm38) |
N949S |
probably damaging |
Het |
| Csrp1 |
T |
G |
1: 135,745,327 (GRCm38) |
C61G |
probably damaging |
Het |
| Dgka |
A |
T |
10: 128,721,195 (GRCm38) |
L637Q |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,212,247 (GRCm38) |
R1801H |
probably damaging |
Het |
| Edil3 |
T |
C |
13: 89,180,278 (GRCm38) |
S284P |
probably damaging |
Het |
| Eif2d |
A |
G |
1: 131,154,363 (GRCm38) |
Y64C |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,761,948 (GRCm38) |
D139G |
probably damaging |
Het |
| Fam187a |
A |
G |
11: 102,886,212 (GRCm38) |
R281G |
probably damaging |
Het |
| Gin1 |
A |
G |
1: 97,792,420 (GRCm38) |
D380G |
possibly damaging |
Het |
| Gpr149 |
T |
G |
3: 62,604,503 (GRCm38) |
D25A |
possibly damaging |
Het |
| Gyg |
A |
G |
3: 20,152,737 (GRCm38) |
S90P |
probably benign |
Het |
| Hpx |
C |
T |
7: 105,595,147 (GRCm38) |
M190I |
probably null |
Het |
| Irf2bpl |
C |
T |
12: 86,883,036 (GRCm38) |
V288I |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,635,989 (GRCm38) |
H748R |
probably benign |
Het |
| Mmrn1 |
G |
A |
6: 60,958,180 (GRCm38) |
G220D |
probably damaging |
Het |
| Mpdz |
A |
T |
4: 81,381,762 (GRCm38) |
M333K |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,817,110 (GRCm38) |
S2556F |
possibly damaging |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 84,716,247 (GRCm38) |
|
probably null |
Het |
| Ntsr1 |
A |
G |
2: 180,500,752 (GRCm38) |
D112G |
probably damaging |
Het |
| Olfr1410 |
A |
C |
1: 92,608,595 (GRCm38) |
T253P |
possibly damaging |
Het |
| Olfr657 |
T |
A |
7: 104,636,149 (GRCm38) |
N158K |
possibly damaging |
Het |
| Olfr8 |
T |
C |
10: 78,955,283 (GRCm38) |
F26S |
probably benign |
Het |
| Parg |
A |
G |
14: 32,254,536 (GRCm38) |
K178R |
probably benign |
Het |
| Pde8b |
C |
A |
13: 95,222,545 (GRCm38) |
C90F |
probably benign |
Het |
| Pld1 |
G |
A |
3: 28,120,783 (GRCm38) |
V857I |
probably benign |
Het |
| Rcn2 |
A |
G |
9: 56,045,207 (GRCm38) |
Y112C |
possibly damaging |
Het |
| Rnf123 |
A |
T |
9: 108,063,963 (GRCm38) |
D639E |
probably benign |
Het |
| Rufy2 |
C |
T |
10: 63,004,772 (GRCm38) |
Q441* |
probably null |
Het |
| Scgb2b12 |
T |
C |
7: 32,326,638 (GRCm38) |
Y43C |
probably damaging |
Het |
| Scrn3 |
T |
A |
2: 73,319,501 (GRCm38) |
|
probably null |
Het |
| Shroom3 |
G |
T |
5: 92,943,086 (GRCm38) |
V1151F |
probably damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,608,233 (GRCm38) |
S321P |
probably benign |
Het |
| Tex11 |
C |
A |
X: 100,933,415 (GRCm38) |
A487S |
possibly damaging |
Het |
| Tex2 |
A |
G |
11: 106,567,572 (GRCm38) |
|
probably benign |
Het |
| Tmem2 |
G |
T |
19: 21,842,115 (GRCm38) |
R1090L |
probably damaging |
Het |
| Trip13 |
A |
G |
13: 73,932,890 (GRCm38) |
I119T |
probably benign |
Het |
| Tsku |
C |
T |
7: 98,352,998 (GRCm38) |
R42H |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,772,567 (GRCm38) |
I16691T |
possibly damaging |
Het |
| Tyr |
A |
G |
7: 87,429,068 (GRCm38) |
L528P |
possibly damaging |
Het |
| Ubxn2b |
T |
C |
4: 6,204,565 (GRCm38) |
V142A |
probably damaging |
Het |
| Uggt2 |
C |
T |
14: 119,049,262 (GRCm38) |
D221N |
probably damaging |
Het |
| Wnt4 |
A |
G |
4: 137,296,343 (GRCm38) |
K207R |
possibly damaging |
Het |
| Zfp608 |
T |
C |
18: 54,988,195 (GRCm38) |
R107G |
probably damaging |
Het |
|
| Other mutations in Rad54l2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Rad54l2
|
APN |
9 |
106,700,561 (GRCm38) |
missense |
probably benign |
|
|
IGL00718:Rad54l2
|
APN |
9 |
106,713,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00917:Rad54l2
|
APN |
9 |
106,710,439 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01319:Rad54l2
|
APN |
9 |
106,719,046 (GRCm38) |
missense |
probably benign |
0.18 |
|
IGL01447:Rad54l2
|
APN |
9 |
106,702,772 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01469:Rad54l2
|
APN |
9 |
106,722,758 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01836:Rad54l2
|
APN |
9 |
106,716,157 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02017:Rad54l2
|
APN |
9 |
106,754,040 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
IGL02179:Rad54l2
|
APN |
9 |
106,720,390 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02348:Rad54l2
|
APN |
9 |
106,720,376 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02822:Rad54l2
|
APN |
9 |
106,710,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03169:Rad54l2
|
APN |
9 |
106,719,064 (GRCm38) |
missense |
probably benign |
0.37 |
|
IGL03245:Rad54l2
|
APN |
9 |
106,703,628 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03253:Rad54l2
|
APN |
9 |
106,704,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02988:Rad54l2
|
UTSW |
9 |
106,700,585 (GRCm38) |
missense |
probably benign |
|
|
PIT4495001:Rad54l2
|
UTSW |
9 |
106,716,144 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0001:Rad54l2
|
UTSW |
9 |
106,708,217 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0069:Rad54l2
|
UTSW |
9 |
106,710,365 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0069:Rad54l2
|
UTSW |
9 |
106,710,365 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R0114:Rad54l2
|
UTSW |
9 |
106,713,455 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0427:Rad54l2
|
UTSW |
9 |
106,693,692 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R0519:Rad54l2
|
UTSW |
9 |
106,708,299 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0760:Rad54l2
|
UTSW |
9 |
106,719,606 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1018:Rad54l2
|
UTSW |
9 |
106,712,390 (GRCm38) |
missense |
probably benign |
0.32 |
|
R1630:Rad54l2
|
UTSW |
9 |
106,703,629 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R1701:Rad54l2
|
UTSW |
9 |
106,700,493 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1903:Rad54l2
|
UTSW |
9 |
106,693,717 (GRCm38) |
splice site |
probably null |
|
|
R2187:Rad54l2
|
UTSW |
9 |
106,753,992 (GRCm38) |
small deletion |
probably benign |
|
|
R2205:Rad54l2
|
UTSW |
9 |
106,717,798 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2566:Rad54l2
|
UTSW |
9 |
106,703,626 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R2983:Rad54l2
|
UTSW |
9 |
106,700,590 (GRCm38) |
missense |
probably benign |
0.10 |
|
R3176:Rad54l2
|
UTSW |
9 |
106,753,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3276:Rad54l2
|
UTSW |
9 |
106,753,943 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3718:Rad54l2
|
UTSW |
9 |
106,693,527 (GRCm38) |
missense |
probably benign |
|
|
R4063:Rad54l2
|
UTSW |
9 |
106,720,414 (GRCm38) |
missense |
probably benign |
0.10 |
|
R4271:Rad54l2
|
UTSW |
9 |
106,693,626 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4377:Rad54l2
|
UTSW |
9 |
106,693,222 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4700:Rad54l2
|
UTSW |
9 |
106,754,025 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4729:Rad54l2
|
UTSW |
9 |
106,716,118 (GRCm38) |
missense |
probably benign |
|
|
R4872:Rad54l2
|
UTSW |
9 |
106,717,892 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4997:Rad54l2
|
UTSW |
9 |
106,722,909 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5475:Rad54l2
|
UTSW |
9 |
106,705,858 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5658:Rad54l2
|
UTSW |
9 |
106,753,992 (GRCm38) |
small deletion |
probably benign |
|
|
R6246:Rad54l2
|
UTSW |
9 |
106,700,493 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6248:Rad54l2
|
UTSW |
9 |
106,710,338 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6329:Rad54l2
|
UTSW |
9 |
106,717,922 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R6631:Rad54l2
|
UTSW |
9 |
106,713,540 (GRCm38) |
nonsense |
probably null |
|
|
R6773:Rad54l2
|
UTSW |
9 |
106,693,317 (GRCm38) |
missense |
probably benign |
|
|
R7148:Rad54l2
|
UTSW |
9 |
106,719,119 (GRCm38) |
nonsense |
probably null |
|
|
R7171:Rad54l2
|
UTSW |
9 |
106,713,478 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7226:Rad54l2
|
UTSW |
9 |
106,713,472 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7327:Rad54l2
|
UTSW |
9 |
106,693,461 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7337:Rad54l2
|
UTSW |
9 |
106,705,825 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Rad54l2
|
UTSW |
9 |
106,720,387 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7659:Rad54l2
|
UTSW |
9 |
106,713,578 (GRCm38) |
missense |
probably benign |
0.11 |
|
R7713:Rad54l2
|
UTSW |
9 |
106,717,223 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7748:Rad54l2
|
UTSW |
9 |
106,719,034 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R8021:Rad54l2
|
UTSW |
9 |
106,719,641 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8084:Rad54l2
|
UTSW |
9 |
106,713,502 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8552:Rad54l2
|
UTSW |
9 |
106,693,578 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8768:Rad54l2
|
UTSW |
9 |
106,719,610 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8952:Rad54l2
|
UTSW |
9 |
106,688,851 (GRCm38) |
unclassified |
probably benign |
|
|
R8953:Rad54l2
|
UTSW |
9 |
106,693,262 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9041:Rad54l2
|
UTSW |
9 |
106,722,819 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9296:Rad54l2
|
UTSW |
9 |
106,702,743 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9451:Rad54l2
|
UTSW |
9 |
106,708,289 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9523:Rad54l2
|
UTSW |
9 |
106,695,952 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9657:Rad54l2
|
UTSW |
9 |
106,704,173 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9757:Rad54l2
|
UTSW |
9 |
106,717,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTCACCTAGGACAAGCCC -3'
(R):5'- AGCCCTGATCTCTGGTAGTG -3'
Sequencing Primer
(F):5'- GCCAGGCTTGAATTCAGGTCATC -3'
(R):5'- CCTGATCTCTGGTAGTGTTTCTGAC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation