Incidental Mutation 'R2187:Rad54l2'
ID |
237878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
040189-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2187 (G1)
|
Quality Score |
105 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
small deletion (1 aa in frame mutation) |
DNA Base Change (assembly) |
ACCTCCTCCTCCTCCTCCTCCTCCTC to ACCTCCTCCTCCTCCTCCTCCTC
at 106631191 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg1 |
T |
A |
17: 31,324,491 (GRCm39) |
S245R |
probably damaging |
Het |
AI597479 |
T |
A |
1: 43,139,983 (GRCm39) |
W70R |
probably damaging |
Het |
Ankrd55 |
A |
G |
13: 112,520,039 (GRCm39) |
S575G |
probably benign |
Het |
Bfsp2 |
T |
A |
9: 103,303,976 (GRCm39) |
K343* |
probably null |
Het |
Cant1 |
A |
T |
11: 118,299,667 (GRCm39) |
Y227* |
probably null |
Het |
Cd2bp2 |
T |
C |
7: 126,793,963 (GRCm39) |
N109D |
probably benign |
Het |
Chmp6 |
A |
G |
11: 119,807,562 (GRCm39) |
E135G |
possibly damaging |
Het |
Dsp |
T |
G |
13: 38,360,383 (GRCm39) |
S329R |
probably damaging |
Het |
Epha5 |
A |
T |
5: 84,234,223 (GRCm39) |
F767L |
probably damaging |
Het |
Epha7 |
A |
T |
4: 28,942,648 (GRCm39) |
T566S |
possibly damaging |
Het |
Erap1 |
A |
T |
13: 74,810,524 (GRCm39) |
I288F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,537,266 (GRCm39) |
|
probably null |
Het |
Fbxo10 |
A |
G |
4: 45,058,531 (GRCm39) |
V402A |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,960,604 (GRCm39) |
I1604F |
probably damaging |
Het |
Foxd4 |
T |
G |
19: 24,877,219 (GRCm39) |
Q327P |
probably damaging |
Het |
Fxn |
T |
A |
19: 24,257,853 (GRCm39) |
N26I |
probably benign |
Het |
Hsf5 |
G |
T |
11: 87,529,010 (GRCm39) |
G582C |
possibly damaging |
Het |
Itga8 |
A |
G |
2: 12,199,231 (GRCm39) |
V522A |
possibly damaging |
Het |
Kplce |
A |
G |
3: 92,775,922 (GRCm39) |
S254P |
probably damaging |
Het |
Lyst |
C |
T |
13: 13,883,926 (GRCm39) |
T2938I |
possibly damaging |
Het |
Mib2 |
T |
C |
4: 155,739,390 (GRCm39) |
E863G |
possibly damaging |
Het |
Mrgpra9 |
A |
G |
7: 46,884,797 (GRCm39) |
F290S |
probably damaging |
Het |
Mst1 |
T |
C |
9: 107,961,539 (GRCm39) |
Y599H |
possibly damaging |
Het |
Mylk4 |
T |
C |
13: 32,905,996 (GRCm39) |
I165V |
probably damaging |
Het |
Nipsnap2 |
T |
C |
5: 129,823,537 (GRCm39) |
|
probably null |
Het |
Nol8 |
T |
C |
13: 49,815,475 (GRCm39) |
Y528H |
probably benign |
Het |
Nup93 |
T |
A |
8: 95,027,478 (GRCm39) |
S295R |
probably damaging |
Het |
Nutm2 |
A |
T |
13: 50,621,453 (GRCm39) |
Q6L |
probably benign |
Het |
Or2b6 |
A |
T |
13: 21,823,555 (GRCm39) |
I46N |
probably damaging |
Het |
Or5ak20 |
T |
G |
2: 85,184,259 (GRCm39) |
S4R |
probably benign |
Het |
Or5b12b |
T |
A |
19: 12,861,619 (GRCm39) |
C125S |
probably damaging |
Het |
Or6c33 |
A |
G |
10: 129,853,557 (GRCm39) |
E109G |
probably damaging |
Het |
Pip5k1a |
A |
T |
3: 94,979,229 (GRCm39) |
L189Q |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,198,698 (GRCm39) |
R574C |
probably damaging |
Het |
Ppp2cb |
A |
G |
8: 34,100,705 (GRCm39) |
E42G |
possibly damaging |
Het |
Prkd3 |
T |
A |
17: 79,282,983 (GRCm39) |
Q244L |
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,595,425 (GRCm39) |
R1023* |
probably null |
Het |
Ptpra |
A |
G |
2: 130,346,219 (GRCm39) |
T127A |
probably benign |
Het |
Rasgrf1 |
T |
C |
9: 89,876,888 (GRCm39) |
I751T |
possibly damaging |
Het |
Rbm27 |
A |
G |
18: 42,459,022 (GRCm39) |
K697R |
probably damaging |
Het |
Rhoa |
C |
T |
9: 108,212,352 (GRCm39) |
T127M |
probably benign |
Het |
Rnpepl1 |
A |
G |
1: 92,844,617 (GRCm39) |
S370G |
probably null |
Het |
Sdk1 |
C |
T |
5: 142,100,329 (GRCm39) |
T1453I |
probably damaging |
Het |
Sel1l2 |
A |
G |
2: 140,072,793 (GRCm39) |
L614S |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,427,653 (GRCm39) |
I419F |
probably damaging |
Het |
Slc8a1 |
C |
T |
17: 81,955,982 (GRCm39) |
S352N |
possibly damaging |
Het |
Spta1 |
A |
G |
1: 174,020,532 (GRCm39) |
D547G |
probably damaging |
Het |
Tc2n |
G |
A |
12: 101,672,803 (GRCm39) |
T46I |
probably damaging |
Het |
Terb1 |
T |
A |
8: 105,199,516 (GRCm39) |
Y476F |
probably benign |
Het |
Trim12a |
T |
A |
7: 103,953,399 (GRCm39) |
E237D |
probably damaging |
Het |
Usp47 |
T |
C |
7: 111,666,398 (GRCm39) |
L309P |
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 |
|
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'- AGAAGTTCTGTGGCCCTTTCC -3'
(R):5'- AAGTGCAGCTGTGGTGATTC -3'
Sequencing Primer
(F):5'- AAACCTGGTTGACAGTGAGTTCC -3'
(R):5'- GGTGATTCTGATGCCTCTTGACC -3'
|
Posted On |
2014-10-02 |