Incidental Mutation 'R1018:Rad54l2'
ID |
96616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
039122-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1018 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 106589589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 601
(C601F)
|
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: C601F
PolyPhen 2
Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: C601F
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 |
0.1248 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
Validation Efficiency |
100% (50/50) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
G |
T |
10: 79,837,325 (GRCm39) |
C403F |
probably damaging |
Het |
Adam20 |
C |
T |
8: 41,249,146 (GRCm39) |
Q419* |
probably null |
Het |
Ankrd36 |
C |
T |
11: 5,596,876 (GRCm39) |
|
probably benign |
Het |
Arl8b |
T |
A |
6: 108,795,572 (GRCm39) |
I170K |
probably damaging |
Het |
Atp5pb |
A |
T |
3: 105,861,488 (GRCm39) |
V78E |
possibly damaging |
Het |
Car9 |
G |
T |
4: 43,512,439 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,633,340 (GRCm39) |
Y4H |
probably damaging |
Het |
Cnn2 |
T |
C |
10: 79,829,397 (GRCm39) |
C176R |
probably damaging |
Het |
Dst |
A |
G |
1: 34,233,174 (GRCm39) |
D3392G |
probably damaging |
Het |
Eed |
T |
C |
7: 89,617,019 (GRCm39) |
|
probably benign |
Het |
Efl1 |
T |
A |
7: 82,412,221 (GRCm39) |
V870E |
possibly damaging |
Het |
Epx |
T |
C |
11: 87,760,129 (GRCm39) |
N495S |
probably benign |
Het |
Fbxw20 |
T |
A |
9: 109,050,404 (GRCm39) |
Y407F |
probably benign |
Het |
Gbp9 |
T |
A |
5: 105,228,126 (GRCm39) |
Q552L |
probably benign |
Het |
Hspa13 |
C |
A |
16: 75,558,164 (GRCm39) |
V134L |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,323,746 (GRCm39) |
N268S |
probably damaging |
Het |
Kif14 |
G |
A |
1: 136,423,579 (GRCm39) |
|
probably benign |
Het |
Lrig1 |
G |
A |
6: 94,599,583 (GRCm39) |
|
probably benign |
Het |
Myo7a |
T |
A |
7: 97,756,212 (GRCm39) |
D29V |
probably damaging |
Het |
Nsd2 |
A |
G |
5: 34,000,585 (GRCm39) |
K34R |
probably damaging |
Het |
Or4a15 |
C |
A |
2: 89,193,523 (GRCm39) |
L83F |
possibly damaging |
Het |
P3h1 |
C |
A |
4: 119,095,104 (GRCm39) |
T287K |
probably damaging |
Het |
Pkhd1 |
A |
T |
1: 20,271,483 (GRCm39) |
H3023Q |
possibly damaging |
Het |
Plxna1 |
A |
G |
6: 89,319,942 (GRCm39) |
L535P |
probably damaging |
Het |
Prom1 |
A |
T |
5: 44,187,056 (GRCm39) |
S400R |
probably benign |
Het |
Psap |
T |
G |
10: 60,136,590 (GRCm39) |
L523R |
probably damaging |
Het |
Psme4 |
C |
T |
11: 30,754,310 (GRCm39) |
T189I |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,234,867 (GRCm39) |
S39T |
possibly damaging |
Het |
Qtrt2 |
T |
A |
16: 43,698,363 (GRCm39) |
H98L |
possibly damaging |
Het |
Saxo4 |
A |
T |
19: 10,456,824 (GRCm39) |
|
probably benign |
Het |
Sfswap |
A |
G |
5: 129,631,640 (GRCm39) |
K756R |
possibly damaging |
Het |
Slc24a5 |
T |
C |
2: 124,910,827 (GRCm39) |
V86A |
probably damaging |
Het |
Srrm2 |
T |
C |
17: 24,041,514 (GRCm39) |
S2575P |
probably damaging |
Het |
Stam |
T |
C |
2: 14,122,185 (GRCm39) |
|
probably benign |
Het |
Tbx6 |
T |
A |
7: 126,382,364 (GRCm39) |
|
probably benign |
Het |
Tmem131 |
A |
C |
1: 36,833,900 (GRCm39) |
F1727V |
probably damaging |
Het |
Tpr |
T |
A |
1: 150,317,934 (GRCm39) |
H2147Q |
possibly damaging |
Het |
Trio |
T |
A |
15: 27,871,257 (GRCm39) |
H620L |
probably damaging |
Het |
Uba5 |
T |
C |
9: 103,927,102 (GRCm39) |
T292A |
probably benign |
Het |
Unc5a |
T |
A |
13: 55,138,765 (GRCm39) |
V48E |
possibly damaging |
Het |
Upf1 |
G |
T |
8: 70,791,556 (GRCm39) |
H514Q |
possibly damaging |
Het |
Usp9y |
A |
G |
Y: 1,341,414 (GRCm39) |
|
probably benign |
Het |
Vmn2r6 |
T |
A |
3: 64,464,261 (GRCm39) |
D191V |
probably benign |
Het |
Wapl |
T |
C |
14: 34,413,863 (GRCm39) |
Y242H |
possibly damaging |
Het |
Zfp341 |
A |
T |
2: 154,487,972 (GRCm39) |
N812Y |
probably damaging |
Het |
Zfp358 |
C |
A |
8: 3,546,843 (GRCm39) |
S475* |
probably null |
Het |
Zfp957 |
C |
A |
14: 79,450,182 (GRCm39) |
C539F |
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 |
|
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 |
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'- TTCCTTCACCCAGAATTCCCACGAG -3'
(R):5'- ACAGCGTCACTGTCTGTACCATCC -3'
Sequencing Primer
(F):5'- CACAGAAAGCCTTCAGAGGA -3'
(R):5'- ATTTCCAGAAAATGGTGTGGC -3'
|
Posted On |
2014-01-05 |