Incidental Mutation 'R0519:Rad54l2'
ID |
48401 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
038712-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0519 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106585498 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 756
(F756L)
|
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: F756L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: F756L
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 |
0.5211 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.6%
- 20x: 93.2%
|
Validation Efficiency |
99% (74/75) |
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
A |
G |
5: 107,696,067 (GRCm39) |
R168G |
probably benign |
Het |
2810004N23Rik |
C |
T |
8: 125,566,668 (GRCm39) |
G251R |
possibly damaging |
Het |
3425401B19Rik |
A |
G |
14: 32,384,919 (GRCm39) |
S349P |
possibly damaging |
Het |
Ackr4 |
A |
G |
9: 103,976,650 (GRCm39) |
V99A |
probably benign |
Het |
Acsbg3 |
T |
A |
17: 57,192,169 (GRCm39) |
Y577* |
probably null |
Het |
Asxl3 |
A |
G |
18: 22,656,577 (GRCm39) |
Q1529R |
possibly damaging |
Het |
Atg12 |
T |
C |
18: 46,874,477 (GRCm39) |
E46G |
probably benign |
Het |
Cdcp2 |
A |
G |
4: 106,964,389 (GRCm39) |
|
probably benign |
Het |
Clasrp |
A |
G |
7: 19,318,089 (GRCm39) |
|
probably benign |
Het |
Clip2 |
A |
G |
5: 134,545,005 (GRCm39) |
V383A |
probably benign |
Het |
Cntln |
C |
T |
4: 84,923,290 (GRCm39) |
|
probably benign |
Het |
Colgalt2 |
G |
T |
1: 152,384,312 (GRCm39) |
A551S |
possibly damaging |
Het |
Csmd2 |
A |
C |
4: 128,380,798 (GRCm39) |
Y2118S |
possibly damaging |
Het |
Dip2c |
T |
A |
13: 9,613,244 (GRCm39) |
V415E |
probably damaging |
Het |
Dpy19l2 |
C |
T |
9: 24,469,391 (GRCm39) |
R755Q |
probably benign |
Het |
Dsn1 |
A |
T |
2: 156,840,633 (GRCm39) |
|
probably benign |
Het |
Dtd2 |
T |
C |
12: 52,051,742 (GRCm39) |
|
probably benign |
Het |
Dync1i1 |
A |
G |
6: 6,027,399 (GRCm39) |
T602A |
probably benign |
Het |
Ercc6 |
A |
C |
14: 32,248,799 (GRCm39) |
D450A |
probably damaging |
Het |
Fgf12 |
A |
T |
16: 28,008,380 (GRCm39) |
V104D |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,888,870 (GRCm39) |
|
probably null |
Het |
Gcgr |
G |
T |
11: 120,426,982 (GRCm39) |
W88L |
probably damaging |
Het |
Glb1 |
ACCC |
ACC |
9: 114,250,812 (GRCm39) |
|
probably null |
Het |
Hapln1 |
A |
G |
13: 89,732,835 (GRCm39) |
|
probably benign |
Het |
Hmgn3 |
T |
C |
9: 82,994,301 (GRCm39) |
E40G |
probably damaging |
Het |
Hsdl1 |
G |
A |
8: 120,292,450 (GRCm39) |
A255V |
probably damaging |
Het |
Hyls1 |
T |
C |
9: 35,472,499 (GRCm39) |
K306E |
probably damaging |
Het |
Jcad |
C |
T |
18: 4,649,122 (GRCm39) |
|
probably benign |
Het |
Kif14 |
C |
A |
1: 136,396,885 (GRCm39) |
A397E |
probably damaging |
Het |
Lcmt2 |
A |
T |
2: 120,969,825 (GRCm39) |
|
probably null |
Het |
Lifr |
T |
C |
15: 7,207,061 (GRCm39) |
L524P |
probably damaging |
Het |
Ly6g6f |
T |
C |
17: 35,301,828 (GRCm39) |
K209E |
possibly damaging |
Het |
Macf1 |
G |
A |
4: 123,365,113 (GRCm39) |
T1651I |
probably benign |
Het |
Mapk4 |
T |
C |
18: 74,103,392 (GRCm39) |
D39G |
probably damaging |
Het |
Mbl1 |
A |
G |
14: 40,880,522 (GRCm39) |
M137V |
probably damaging |
Het |
Mcm10 |
G |
A |
2: 5,013,356 (GRCm39) |
S92L |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,828,383 (GRCm39) |
K265R |
possibly damaging |
Het |
Mxra7 |
A |
G |
11: 116,701,612 (GRCm39) |
|
probably null |
Het |
Neu3 |
G |
A |
7: 99,472,524 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,460,648 (GRCm39) |
T2395A |
probably benign |
Het |
Or1j1 |
T |
A |
2: 36,702,627 (GRCm39) |
H159L |
probably damaging |
Het |
Or5m9 |
A |
T |
2: 85,877,411 (GRCm39) |
Y195F |
probably benign |
Het |
Or6s1 |
T |
A |
14: 51,308,614 (GRCm39) |
I79F |
probably damaging |
Het |
Or7g34 |
A |
T |
9: 19,478,245 (GRCm39) |
I145N |
probably benign |
Het |
Osgepl1 |
T |
C |
1: 53,360,255 (GRCm39) |
V327A |
probably damaging |
Het |
Pcdhb21 |
T |
C |
18: 37,649,085 (GRCm39) |
V738A |
possibly damaging |
Het |
Plekha8 |
A |
T |
6: 54,599,092 (GRCm39) |
|
probably benign |
Het |
Ptprq |
A |
C |
10: 107,374,781 (GRCm39) |
|
probably benign |
Het |
Pus10 |
T |
A |
11: 23,661,201 (GRCm39) |
F263Y |
probably benign |
Het |
Rad54b |
A |
T |
4: 11,599,809 (GRCm39) |
I338F |
probably damaging |
Het |
Scn11a |
A |
G |
9: 119,619,185 (GRCm39) |
L719P |
probably damaging |
Het |
Slc2a2 |
G |
A |
3: 28,772,965 (GRCm39) |
V253I |
possibly damaging |
Het |
Slc39a4 |
A |
T |
15: 76,499,338 (GRCm39) |
N192K |
probably benign |
Het |
Soat1 |
T |
A |
1: 156,268,816 (GRCm39) |
I245F |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,188,534 (GRCm39) |
A858V |
probably benign |
Het |
Tcim |
T |
C |
8: 24,928,651 (GRCm39) |
T88A |
possibly damaging |
Het |
Tecta |
G |
A |
9: 42,259,188 (GRCm39) |
|
probably benign |
Het |
Tgm5 |
C |
A |
2: 120,879,376 (GRCm39) |
L553F |
probably damaging |
Het |
Tjp1 |
A |
G |
7: 64,952,669 (GRCm39) |
V1555A |
probably benign |
Het |
Tmem214 |
A |
C |
5: 31,027,012 (GRCm39) |
M1L |
probably null |
Het |
Togaram1 |
T |
C |
12: 65,012,776 (GRCm39) |
|
probably benign |
Het |
Topaz1 |
C |
A |
9: 122,578,544 (GRCm39) |
L485I |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,548,626 (GRCm39) |
|
probably benign |
Het |
Ube2o |
A |
G |
11: 116,437,285 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,734,465 (GRCm39) |
D246E |
probably benign |
Het |
Vcpkmt |
T |
C |
12: 69,629,102 (GRCm39) |
D132G |
probably benign |
Het |
Vmn2r111 |
T |
A |
17: 22,792,102 (GRCm39) |
Q51H |
probably benign |
Het |
Vmn2r95 |
C |
T |
17: 18,659,765 (GRCm39) |
P170S |
probably damaging |
Het |
Zbtb38 |
A |
G |
9: 96,567,826 (GRCm39) |
I1086T |
probably damaging |
Het |
Zfp444 |
G |
A |
7: 6,191,172 (GRCm39) |
A118T |
probably benign |
Het |
Zp2 |
A |
G |
7: 119,737,372 (GRCm39) |
I272T |
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 |
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 |
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'- TGCCACATATGGTCACACATGCTTG -3'
(R):5'- ACTGCTGAACACTGAGTTAAACCCC -3'
Sequencing Primer
(F):5'- TATCTCTGTAGCCCTAGCAGTGG -3'
(R):5'- ATGGGTCGGTGCTCATAAATC -3'
|
Posted On |
2013-06-12 |