Incidental Mutation 'R4377:Rad54l2'
| ID |
325154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
041676-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4377 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106688082-106789194 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106693222 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1300
(S1300P)
|
| 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: S1300P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: S1300P
| 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 |
unknown
Transcript: ENSMUST00000189553
AA Change: S28P
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3632451O06Rik |
T |
A |
14: 49,770,436 (GRCm38) |
T527S |
probably damaging |
Het |
| Adck5 |
A |
G |
15: 76,594,335 (GRCm38) |
|
probably benign |
Het |
| Arhgap22 |
A |
G |
14: 33,369,510 (GRCm38) |
M681V |
probably damaging |
Het |
| Atp10d |
T |
C |
5: 72,296,975 (GRCm38) |
L189P |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,232,450 (GRCm38) |
C384R |
probably benign |
Het |
| C330007P06Rik |
C |
A |
X: 36,824,159 (GRCm38) |
C206F |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,941,877 (GRCm38) |
L1380Q |
probably damaging |
Het |
| Cd209c |
T |
C |
8: 3,954,635 (GRCm38) |
|
noncoding transcript |
Het |
| Cenpp |
A |
G |
13: 49,494,431 (GRCm38) |
|
probably benign |
Het |
| Csf1 |
T |
A |
3: 107,756,739 (GRCm38) |
T38S |
probably damaging |
Het |
| Csn1s2a |
T |
C |
5: 87,775,821 (GRCm38) |
V12A |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,719,684 (GRCm38) |
D235G |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,312,989 (GRCm38) |
I944V |
probably damaging |
Het |
| Frmd3 |
T |
A |
4: 74,128,298 (GRCm38) |
|
probably null |
Het |
| Gart |
G |
A |
16: 91,634,094 (GRCm38) |
A360V |
probably benign |
Het |
| Gm7251 |
T |
A |
13: 49,805,200 (GRCm38) |
|
noncoding transcript |
Het |
| Gon4l |
C |
A |
3: 88,907,387 (GRCm38) |
P1888T |
probably benign |
Het |
| Hk1 |
C |
A |
10: 62,315,540 (GRCm38) |
K10N |
probably damaging |
Het |
| Itgal |
A |
G |
7: 127,328,281 (GRCm38) |
Y981C |
probably benign |
Het |
| Kcp |
C |
T |
6: 29,493,203 (GRCm38) |
C107Y |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,329,054 (GRCm38) |
V138M |
probably benign |
Het |
| Kit |
T |
C |
5: 75,640,499 (GRCm38) |
I515T |
probably benign |
Het |
| Kmt2c |
C |
T |
5: 25,315,326 (GRCm38) |
V1929I |
probably benign |
Het |
| Krt33a |
T |
C |
11: 100,012,427 (GRCm38) |
E263G |
possibly damaging |
Het |
| Mark2 |
T |
C |
19: 7,290,689 (GRCm38) |
I50V |
possibly damaging |
Het |
| Mug2 |
G |
T |
6: 122,071,007 (GRCm38) |
|
probably null |
Het |
| Mvk |
A |
G |
5: 114,452,961 (GRCm38) |
|
probably benign |
Het |
| Myh6 |
T |
A |
14: 54,962,108 (GRCm38) |
I249F |
probably damaging |
Het |
| Naa15 |
T |
C |
3: 51,448,365 (GRCm38) |
I229T |
possibly damaging |
Het |
| Napb |
A |
C |
2: 148,732,264 (GRCm38) |
|
probably null |
Het |
| Ncoa3 |
T |
G |
2: 166,054,497 (GRCm38) |
L440R |
possibly damaging |
Het |
| Olfr608 |
T |
C |
7: 103,470,071 (GRCm38) |
S11P |
probably damaging |
Het |
| Olfr965 |
T |
A |
9: 39,719,807 (GRCm38) |
F193L |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,269,419 (GRCm38) |
I245N |
possibly damaging |
Het |
| Pdia4 |
G |
A |
6: 47,798,392 (GRCm38) |
R495W |
probably damaging |
Het |
| Pfn4 |
T |
A |
12: 4,770,182 (GRCm38) |
D10E |
probably damaging |
Het |
| Plekha5 |
T |
C |
6: 140,579,465 (GRCm38) |
Y376H |
probably damaging |
Het |
| Pole |
T |
A |
5: 110,337,205 (GRCm38) |
I395K |
possibly damaging |
Het |
| Prcc |
A |
G |
3: 87,867,407 (GRCm38) |
Y363H |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,067,925 (GRCm38) |
M982K |
probably benign |
Het |
| Ptpro |
T |
A |
6: 137,380,266 (GRCm38) |
F252I |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,890,580 (GRCm38) |
V188A |
probably benign |
Het |
| Rpl11 |
G |
A |
4: 136,051,143 (GRCm38) |
|
probably benign |
Het |
| Rtel1 |
T |
A |
2: 181,355,796 (GRCm38) |
H1104Q |
probably damaging |
Het |
| Setbp1 |
T |
C |
18: 78,859,922 (GRCm38) |
R177G |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,236,518 (GRCm38) |
T143A |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Ttc23l |
CT |
CTTGGATT |
15: 10,537,562 (GRCm38) |
|
probably benign |
Het |
| Ttc23l |
G |
A |
15: 10,537,566 (GRCm38) |
S206L |
probably benign |
Het |
| Zfp583 |
A |
G |
7: 6,317,681 (GRCm38) |
S111P |
possibly damaging |
Het |
| Zmiz1 |
T |
C |
14: 25,636,010 (GRCm38) |
S140P |
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 |
|
R4206:Rad54l2
|
UTSW |
9 |
106,717,795 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4271:Rad54l2
|
UTSW |
9 |
106,693,626 (GRCm38) |
missense |
probably benign |
0.22 |
|
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'- AAAGGCGCAAACATCCTGG -3'
(R):5'- AGTTCCCTCTTGGTGACTGG -3'
Sequencing Primer
(F):5'- AAACATCCTGGGCTCGGACAG -3'
(R):5'- TCTTGGTGACTGGCCAGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation