Incidental Mutation 'R8952:Rad54l2'
| ID |
681712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
068714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8952 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 106566050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133194
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
[ENSMUST00000046735]
[ENSMUST00000163441]
[ENSMUST00000169068]
|
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046735
|
| SMART Domains |
Protein: ENSMUSP00000044654
Gene: ENSMUSG00000040813
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:GyrI-like
|
41 |
185 |
1e-12 |
PFAM |
|
low complexity region
|
208 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163441
|
| SMART Domains |
Protein: ENSMUSP00000132247
Gene: ENSMUSG00000040813
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
SCOP:d1jyha_
|
46 |
133 |
7e-3 |
SMART |
|
low complexity region
|
208 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
258 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169068
|
| SMART Domains |
Protein: ENSMUSP00000133194
Gene: ENSMUSG00000040813
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:GyrI-like
|
41 |
176 |
4.2e-11 |
PFAM |
|
low complexity region
|
220 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actmap |
T |
A |
7: 26,900,025 (GRCm39) |
S134T |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,065 (GRCm39) |
N758S |
probably damaging |
Het |
| Asb3 |
C |
A |
11: 31,008,959 (GRCm39) |
Q287K |
probably damaging |
Het |
| Bach1 |
T |
A |
16: 87,512,353 (GRCm39) |
N25K |
probably damaging |
Het |
| Carmil2 |
T |
A |
8: 106,417,398 (GRCm39) |
V552E |
possibly damaging |
Het |
| Cyth4 |
A |
G |
15: 78,486,937 (GRCm39) |
I22V |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,850,958 (GRCm39) |
F848S |
probably benign |
Het |
| Dytn |
G |
A |
1: 63,698,111 (GRCm39) |
R299C |
|
Het |
| Fbxl18 |
C |
T |
5: 142,871,502 (GRCm39) |
A578T |
probably damaging |
Het |
| Galr1 |
C |
T |
18: 82,411,909 (GRCm39) |
C319Y |
probably damaging |
Het |
| Gstm7 |
T |
C |
3: 107,838,757 (GRCm39) |
|
probably benign |
Het |
| Hspa1l |
G |
T |
17: 35,196,946 (GRCm39) |
M328I |
probably benign |
Het |
| Itgad |
A |
T |
7: 127,789,324 (GRCm39) |
Y596F |
probably damaging |
Het |
| Krt19 |
T |
A |
11: 100,031,768 (GRCm39) |
N395Y |
possibly damaging |
Het |
| Lrit1 |
G |
A |
14: 36,783,664 (GRCm39) |
A331T |
probably damaging |
Het |
| Mmp1b |
C |
T |
9: 7,386,346 (GRCm39) |
V192I |
possibly damaging |
Het |
| Mrc1 |
C |
T |
2: 14,253,735 (GRCm39) |
A252V |
probably damaging |
Het |
| Mucl2 |
C |
T |
15: 103,929,445 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,299,459 (GRCm39) |
D1265G |
probably benign |
Het |
| Ndc1 |
T |
C |
4: 107,247,623 (GRCm39) |
I477T |
probably benign |
Het |
| Neo1 |
A |
G |
9: 58,897,545 (GRCm39) |
F137S |
probably benign |
Het |
| Nos2 |
A |
G |
11: 78,836,089 (GRCm39) |
N384S |
probably benign |
Het |
| Nup133 |
T |
C |
8: 124,634,500 (GRCm39) |
I1031V |
probably damaging |
Het |
| Nup98 |
A |
G |
7: 101,835,859 (GRCm39) |
Y195H |
probably damaging |
Het |
| Obscn |
C |
T |
11: 59,026,960 (GRCm39) |
C81Y |
probably damaging |
Het |
| Or1j10 |
A |
G |
2: 36,267,402 (GRCm39) |
I205V |
probably benign |
Het |
| Pfn2 |
T |
C |
3: 57,752,756 (GRCm39) |
D55G |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,499 (GRCm39) |
K485R |
probably damaging |
Het |
| Polr1e |
A |
G |
4: 45,018,727 (GRCm39) |
E19G |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,491,624 (GRCm39) |
|
probably benign |
Het |
| Proca1 |
A |
C |
11: 78,095,773 (GRCm39) |
H135P |
probably benign |
Het |
| Psd |
T |
C |
19: 46,310,900 (GRCm39) |
K383R |
probably damaging |
Het |
| Ptcd1 |
A |
G |
5: 145,091,944 (GRCm39) |
L385P |
probably damaging |
Het |
| Ptpra |
T |
G |
2: 130,386,969 (GRCm39) |
I620S |
probably damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,432,861 (GRCm39) |
N262K |
probably damaging |
Het |
| Stat1 |
G |
T |
1: 52,187,042 (GRCm39) |
V450F |
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,524 (GRCm39) |
T919I |
probably benign |
Het |
| Thsd7a |
A |
T |
6: 12,468,992 (GRCm39) |
L529I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,748,863 (GRCm39) |
V4062A |
probably benign |
Het |
| Usp9y |
A |
C |
Y: 1,332,662 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,531 (GRCm39) |
Y117C |
possibly damaging |
Het |
| Wdr33 |
A |
T |
18: 31,960,393 (GRCm39) |
H19L |
possibly damaging |
Het |
| Wdr76 |
C |
A |
2: 121,372,899 (GRCm39) |
H575Q |
probably benign |
Het |
| Xab2 |
A |
G |
8: 3,663,875 (GRCm39) |
V348A |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,310,207 (GRCm39) |
Y780N |
possibly damaging |
Het |
| Zmynd12 |
T |
C |
4: 119,302,081 (GRCm39) |
|
probably null |
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 |
|
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'- TGCCCTGAGTTACAACCAGATAAC -3'
(R):5'- ATCGGTGTAATCCCTCAACGTC -3'
Sequencing Primer
(F):5'- TTCACTCAAACACAGCTGGG -3'
(R):5'- AACGTCTGTTCTGTGCCACTAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation