Incidental Mutation 'R9657:Rad54l2'
| ID |
727398 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 106581372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 850
(V850L)
|
| 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: V850L
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: V850L
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,243,379 (GRCm39) |
D1747E |
probably benign |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Atp2b4 |
T |
C |
1: 133,656,478 (GRCm39) |
E724G |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,599 (GRCm39) |
S63P |
probably damaging |
Het |
| Blzf1 |
T |
C |
1: 164,134,023 (GRCm39) |
S9G |
probably benign |
Het |
| Ccdc121rt1 |
T |
C |
1: 181,338,104 (GRCm39) |
T283A |
probably benign |
Het |
| Cdh22 |
T |
C |
2: 164,965,715 (GRCm39) |
D488G |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,351,003 (GRCm39) |
E688G |
possibly damaging |
Het |
| Cldn10 |
A |
C |
14: 119,025,781 (GRCm39) |
E71D |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Cyp3a16 |
T |
C |
5: 145,386,979 (GRCm39) |
D337G |
probably null |
Het |
| Dnah5 |
A |
T |
15: 28,410,089 (GRCm39) |
D3654V |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,339,429 (GRCm39) |
S100P |
possibly damaging |
Het |
| Hdgfl2 |
T |
C |
17: 56,405,978 (GRCm39) |
V488A |
unknown |
Het |
| Itih2 |
T |
C |
2: 10,107,686 (GRCm39) |
T627A |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,441,956 (GRCm39) |
S648G |
probably benign |
Het |
| Klhl33 |
T |
C |
14: 51,134,117 (GRCm39) |
D144G |
probably benign |
Het |
| Lca5l |
G |
A |
16: 95,974,953 (GRCm39) |
Q324* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Mical2 |
A |
G |
7: 111,921,806 (GRCm39) |
T542A |
probably benign |
Het |
| Moxd1 |
T |
A |
10: 24,128,485 (GRCm39) |
V179E |
probably benign |
Het |
| Myh7b |
A |
G |
2: 155,455,963 (GRCm39) |
Y116C |
probably damaging |
Het |
| Myoc |
C |
T |
1: 162,467,229 (GRCm39) |
R133* |
probably null |
Het |
| Nol3 |
A |
T |
8: 106,005,641 (GRCm39) |
I12F |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,352,377 (GRCm39) |
V605A |
probably benign |
Het |
| Or5w13 |
T |
C |
2: 87,524,121 (GRCm39) |
Y35C |
probably damaging |
Het |
| Or9m2 |
A |
C |
2: 87,821,310 (GRCm39) |
N285T |
probably damaging |
Het |
| Pag1 |
G |
T |
3: 9,769,791 (GRCm39) |
S52R |
probably damaging |
Het |
| Pbxip1 |
A |
G |
3: 89,355,056 (GRCm39) |
D525G |
probably benign |
Het |
| Pla2g4f |
A |
G |
2: 120,135,138 (GRCm39) |
F437L |
probably benign |
Het |
| Podn |
A |
C |
4: 107,884,231 (GRCm39) |
I86S |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,290,820 (GRCm39) |
T676A |
probably benign |
Het |
| Ppp1r1c |
A |
G |
2: 79,638,718 (GRCm39) |
E104G |
probably benign |
Het |
| Prss53 |
T |
C |
7: 127,486,238 (GRCm39) |
T436A |
probably damaging |
Het |
| Psme4 |
A |
T |
11: 30,788,980 (GRCm39) |
E1127D |
probably benign |
Het |
| Ptpn18 |
C |
A |
1: 34,512,473 (GRCm39) |
A426E |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,042,377 (GRCm39) |
C2044G |
possibly damaging |
Het |
| Ranbp9 |
A |
G |
13: 43,557,155 (GRCm39) |
I28T |
unknown |
Het |
| Rapgef2 |
A |
T |
3: 78,999,191 (GRCm39) |
V527E |
probably damaging |
Het |
| Rere |
C |
A |
4: 150,699,390 (GRCm39) |
P825T |
unknown |
Het |
| Rundc3a |
A |
G |
11: 102,291,578 (GRCm39) |
T349A |
probably benign |
Het |
| Scn2a |
T |
C |
2: 65,566,032 (GRCm39) |
F1352S |
probably damaging |
Het |
| Senp7 |
T |
A |
16: 55,944,295 (GRCm39) |
C206* |
probably null |
Het |
| Serac1 |
C |
T |
17: 6,119,658 (GRCm39) |
V91I |
probably benign |
Het |
| Serpina1f |
G |
A |
12: 103,656,050 (GRCm39) |
Q393* |
probably null |
Het |
| Slc8a1 |
T |
C |
17: 81,955,244 (GRCm39) |
E598G |
probably damaging |
Het |
| Slmap |
A |
T |
14: 26,151,013 (GRCm39) |
H518Q |
probably benign |
Het |
| Spg11 |
G |
A |
2: 121,910,781 (GRCm39) |
R1199C |
probably damaging |
Het |
| Tada1 |
T |
C |
1: 166,214,312 (GRCm39) |
S104P |
possibly damaging |
Het |
| Tbck |
A |
G |
3: 132,421,451 (GRCm39) |
D186G |
probably damaging |
Het |
| Tdrd9 |
A |
C |
12: 112,002,824 (GRCm39) |
R824S |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,630,260 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
A |
3: 19,728,671 (GRCm39) |
G494D |
possibly damaging |
Het |
| Ttc17 |
T |
A |
2: 94,237,010 (GRCm39) |
M1L |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ugt3a1 |
A |
C |
15: 9,280,133 (GRCm39) |
S32R |
probably damaging |
Het |
| Vgll3 |
T |
C |
16: 65,636,343 (GRCm39) |
S220P |
probably benign |
Het |
| Virma |
A |
G |
4: 11,544,898 (GRCm39) |
E1569G |
probably damaging |
Het |
| Vmn1r54 |
C |
G |
6: 90,246,984 (GRCm39) |
F299L |
probably benign |
Het |
| Vmn2r114 |
A |
G |
17: 23,510,690 (GRCm39) |
S597P |
probably damaging |
Het |
| Wdr7 |
A |
G |
18: 64,057,918 (GRCm39) |
D1249G |
probably damaging |
Het |
| Wdr97 |
A |
G |
15: 76,245,476 (GRCm39) |
Y1271C |
|
Het |
| Yju2b |
T |
C |
8: 84,987,084 (GRCm39) |
K138E |
possibly damaging |
Het |
| Ypel4 |
A |
G |
2: 84,568,068 (GRCm39) |
Y108C |
probably damaging |
Het |
| Zfp770 |
A |
G |
2: 114,027,766 (GRCm39) |
V101A |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,575,729 (GRCm39) |
C451S |
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 |
|
|
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 |
|
R9757:Rad54l2
|
UTSW |
9 |
106,595,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGACTCAAAGCCTATCTG -3'
(R):5'- CACAGAGAGCAAAGCTTCTGAG -3'
Sequencing Primer
(F):5'- GTGACTCAAAGCCTATCTGTGTTC -3'
(R):5'- GCAAAGCTTCTGAGGAAACC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation