Incidental Mutation 'R0001:Rad54l2'
ID |
32248 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
038297-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0001 (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 106585416 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 783
(F783S)
|
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: F783S
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: F783S
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 |
0.7048 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
Validation Efficiency |
99% (76/77) |
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: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900092C05Rik |
T |
A |
7: 12,288,534 (GRCm39) |
|
probably benign |
Het |
A4galt |
A |
G |
15: 83,112,490 (GRCm39) |
F98L |
probably benign |
Het |
Abca4 |
T |
G |
3: 121,874,660 (GRCm39) |
|
probably benign |
Het |
Acacb |
C |
T |
5: 114,342,894 (GRCm39) |
|
probably benign |
Het |
Agbl1 |
A |
T |
7: 76,069,611 (GRCm39) |
H367L |
probably damaging |
Het |
Apoa4 |
C |
A |
9: 46,154,190 (GRCm39) |
Q264K |
probably benign |
Het |
Camsap2 |
A |
T |
1: 136,210,626 (GRCm39) |
|
probably benign |
Het |
Cdan1 |
C |
A |
2: 120,554,232 (GRCm39) |
R939L |
probably benign |
Het |
Ceacam18 |
G |
A |
7: 43,286,300 (GRCm39) |
V58I |
possibly damaging |
Het |
Ciita |
A |
T |
16: 10,332,297 (GRCm39) |
|
probably benign |
Het |
Clk4 |
T |
A |
11: 51,159,592 (GRCm39) |
|
probably benign |
Het |
Cntnap2 |
T |
C |
6: 46,507,105 (GRCm39) |
D215G |
probably benign |
Het |
Col11a2 |
T |
C |
17: 34,280,586 (GRCm39) |
S1218P |
probably benign |
Het |
Col20a1 |
T |
C |
2: 180,626,205 (GRCm39) |
|
probably benign |
Het |
Ctsb |
A |
G |
14: 63,373,071 (GRCm39) |
E76G |
probably benign |
Het |
Ctu2 |
T |
C |
8: 123,205,659 (GRCm39) |
C161R |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,101,090 (GRCm39) |
L1211P |
probably damaging |
Het |
Dhx9 |
G |
T |
1: 153,338,382 (GRCm39) |
T759K |
probably damaging |
Het |
Dmxl1 |
T |
C |
18: 50,021,964 (GRCm39) |
|
probably benign |
Het |
Dpysl3 |
C |
T |
18: 43,491,440 (GRCm39) |
E226K |
possibly damaging |
Het |
Eif2d |
A |
T |
1: 131,095,864 (GRCm39) |
K453* |
probably null |
Het |
Epha7 |
T |
C |
4: 28,961,279 (GRCm39) |
|
probably benign |
Het |
Fat3 |
T |
C |
9: 16,289,169 (GRCm39) |
D118G |
probably damaging |
Het |
Fhip2a |
T |
A |
19: 57,370,188 (GRCm39) |
H477Q |
probably benign |
Het |
Foxn4 |
T |
A |
5: 114,398,931 (GRCm39) |
Q159L |
probably damaging |
Het |
Frs2 |
G |
T |
10: 116,910,781 (GRCm39) |
H194N |
possibly damaging |
Het |
Fut8 |
A |
T |
12: 77,522,089 (GRCm39) |
*576L |
probably null |
Het |
Galns |
T |
C |
8: 123,322,622 (GRCm39) |
|
probably benign |
Het |
Gamt |
G |
A |
10: 80,094,895 (GRCm39) |
|
probably benign |
Het |
Gpn1 |
T |
A |
5: 31,652,961 (GRCm39) |
|
probably benign |
Het |
Ipcef1 |
G |
T |
10: 6,850,600 (GRCm39) |
H330Q |
probably damaging |
Het |
Itga4 |
A |
C |
2: 79,156,931 (GRCm39) |
Y1024S |
probably damaging |
Het |
Jak2 |
A |
G |
19: 29,259,787 (GRCm39) |
I229V |
probably benign |
Het |
Katnal1 |
A |
G |
5: 148,858,085 (GRCm39) |
S42P |
probably damaging |
Het |
Kcnu1 |
A |
T |
8: 26,349,298 (GRCm39) |
D142V |
probably damaging |
Het |
Lig3 |
C |
T |
11: 82,681,417 (GRCm39) |
R470W |
probably damaging |
Het |
Mgat4c |
A |
G |
10: 102,224,817 (GRCm39) |
S344G |
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mipol1 |
C |
T |
12: 57,507,625 (GRCm39) |
|
probably benign |
Het |
Mki67 |
C |
T |
7: 135,300,901 (GRCm39) |
V1378M |
probably damaging |
Het |
Mki67 |
T |
A |
7: 135,302,748 (GRCm39) |
D762V |
probably damaging |
Het |
Mmp9 |
A |
G |
2: 164,790,303 (GRCm39) |
T43A |
probably benign |
Het |
Muc6 |
T |
C |
7: 141,227,841 (GRCm39) |
T1316A |
possibly damaging |
Het |
Naip5 |
A |
G |
13: 100,351,158 (GRCm39) |
|
probably null |
Het |
Naip5 |
C |
A |
13: 100,359,622 (GRCm39) |
S538I |
probably benign |
Het |
Nek3 |
A |
T |
8: 22,648,628 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
A |
G |
11: 71,052,585 (GRCm39) |
S948P |
probably damaging |
Het |
Nyap2 |
A |
T |
1: 81,169,822 (GRCm39) |
H193L |
probably benign |
Het |
Or52h1 |
T |
A |
7: 103,828,680 (GRCm39) |
K312* |
probably null |
Het |
Or9s23 |
A |
G |
1: 92,501,183 (GRCm39) |
K97E |
possibly damaging |
Het |
Patl2 |
G |
A |
2: 121,956,191 (GRCm39) |
|
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,557,042 (GRCm39) |
R791W |
probably benign |
Het |
Pkd1l3 |
C |
A |
8: 110,355,265 (GRCm39) |
|
probably benign |
Het |
Pkn2 |
A |
T |
3: 142,534,749 (GRCm39) |
V73D |
probably benign |
Het |
Pknox1 |
A |
T |
17: 31,818,610 (GRCm39) |
H281L |
probably damaging |
Het |
Polr3a |
A |
G |
14: 24,502,257 (GRCm39) |
|
probably benign |
Het |
Prss38 |
A |
G |
11: 59,264,006 (GRCm39) |
|
probably benign |
Het |
Rbm5 |
T |
C |
9: 107,619,623 (GRCm39) |
R125G |
probably damaging |
Het |
Rnpep |
A |
G |
1: 135,200,223 (GRCm39) |
|
probably benign |
Het |
Slc1a5 |
T |
A |
7: 16,527,562 (GRCm39) |
|
probably null |
Het |
Slc22a4 |
G |
A |
11: 53,918,829 (GRCm39) |
|
probably benign |
Het |
Spink12 |
T |
C |
18: 44,240,763 (GRCm39) |
C50R |
probably damaging |
Het |
Spmip5 |
G |
A |
19: 58,777,603 (GRCm39) |
A61V |
probably damaging |
Het |
Svep1 |
G |
A |
4: 58,066,460 (GRCm39) |
T3208I |
possibly damaging |
Het |
Tgm5 |
G |
T |
2: 120,908,127 (GRCm39) |
D16E |
probably damaging |
Het |
Tpp2 |
A |
G |
1: 44,010,886 (GRCm39) |
N558D |
probably benign |
Het |
Trappc9 |
A |
T |
15: 72,835,511 (GRCm39) |
L507Q |
probably damaging |
Het |
Trpm3 |
A |
T |
19: 22,692,695 (GRCm39) |
Q262L |
possibly damaging |
Het |
Ttn |
A |
G |
2: 76,607,316 (GRCm39) |
|
probably benign |
Het |
Ttn |
G |
A |
2: 76,662,433 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
A |
4: 139,179,099 (GRCm39) |
L3316Q |
probably damaging |
Het |
Uckl1 |
T |
A |
2: 181,216,448 (GRCm39) |
Y136F |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vps39 |
A |
G |
2: 120,148,534 (GRCm39) |
V870A |
probably benign |
Het |
Zdhhc25 |
A |
G |
15: 88,485,112 (GRCm39) |
D149G |
probably benign |
Het |
Zfp648 |
C |
T |
1: 154,081,032 (GRCm39) |
T397M |
probably damaging |
Het |
Zic2 |
C |
A |
14: 122,716,369 (GRCm39) |
T435K |
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 |
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 |
|
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'- GGGAACTCCACTTAGAAGGTTGCAC -3'
Sequencing Primer
(F):5'- TATCTCTGTAGCCCTAGCAGTGG -3'
(R):5'- CACTTAGAAGGTTGCACAGGAG -3'
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Posted On |
2013-05-09 |