Incidental Mutation 'R9757:Rad54l2'
| ID |
732802 |
| 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 # |
R9757 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106595120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 279
(I279N)
|
| 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: I279N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: I279N
| 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: ENSMUST00000190363
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.6%
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
T |
C |
5: 81,613,086 (GRCm39) |
V105A |
probably benign |
Het |
| Agrn |
C |
A |
4: 156,261,235 (GRCm39) |
V621L |
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,517,676 (GRCm39) |
S323P |
probably damaging |
Het |
| Anxa6 |
T |
A |
11: 54,885,182 (GRCm39) |
K456* |
probably null |
Het |
| C7 |
G |
T |
15: 5,075,134 (GRCm39) |
T186K |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,609,113 (GRCm39) |
E396G |
probably damaging |
Het |
| Ccdc191 |
C |
T |
16: 43,762,170 (GRCm39) |
T20I |
|
Het |
| Ces1b |
G |
T |
8: 93,806,501 (GRCm39) |
P15Q |
probably benign |
Het |
| Dnah14 |
G |
T |
1: 181,513,349 (GRCm39) |
A1901S |
probably benign |
Het |
| Dock3 |
T |
C |
9: 106,901,035 (GRCm39) |
H310R |
possibly damaging |
Het |
| Eif2ak4 |
T |
G |
2: 118,269,398 (GRCm39) |
S23R |
probably benign |
Het |
| Gli2 |
A |
G |
1: 118,773,652 (GRCm39) |
C485R |
probably damaging |
Het |
| Gm17093 |
T |
A |
14: 44,758,990 (GRCm39) |
W171R |
|
Het |
| Ing2 |
G |
A |
8: 48,128,075 (GRCm39) |
|
probably benign |
Het |
| Itpkb |
T |
C |
1: 180,160,372 (GRCm39) |
I166T |
probably benign |
Het |
| Kcnj8 |
T |
A |
6: 142,515,805 (GRCm39) |
I101F |
probably benign |
Het |
| Krtap6-2 |
C |
T |
16: 89,216,958 (GRCm39) |
C3Y |
unknown |
Het |
| Lep |
A |
G |
6: 29,069,083 (GRCm39) |
I45V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,695,229 (GRCm39) |
I2355L |
probably benign |
Het |
| Mettl3 |
C |
A |
14: 52,537,361 (GRCm39) |
A174S |
probably benign |
Het |
| Mmp23 |
T |
C |
4: 155,735,515 (GRCm39) |
N317S |
probably damaging |
Het |
| Mybpc1 |
A |
T |
10: 88,372,257 (GRCm39) |
V777E |
probably damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,617 (GRCm39) |
C844S |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,892,338 (GRCm39) |
E6823G |
probably benign |
Het |
| Or6y1 |
A |
T |
1: 174,276,866 (GRCm39) |
I226F |
probably damaging |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,302 (GRCm39) |
Q751L |
probably benign |
Het |
| Pdgfrl |
T |
A |
8: 41,379,454 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Pdzph1 |
A |
C |
17: 59,281,898 (GRCm39) |
L128* |
probably null |
Het |
| Pramel24 |
A |
G |
4: 143,454,992 (GRCm39) |
D430G |
probably benign |
Het |
| Prr36 |
A |
T |
8: 4,260,998 (GRCm39) |
S940T |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,807,719 (GRCm39) |
T259S |
probably damaging |
Het |
| Rrn3 |
T |
A |
16: 13,628,433 (GRCm39) |
I538N |
probably damaging |
Het |
| Sdf2l1 |
A |
T |
16: 16,948,398 (GRCm39) |
D213E |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,711,363 (GRCm39) |
Y643H |
probably damaging |
Het |
| Sval2 |
G |
T |
6: 41,838,774 (GRCm39) |
C4F |
possibly damaging |
Het |
| Taldo1 |
A |
G |
7: 140,980,263 (GRCm39) |
E131G |
probably benign |
Het |
| Tas2r130 |
T |
C |
6: 131,607,296 (GRCm39) |
I166M |
probably benign |
Het |
| Tmem178 |
A |
G |
17: 81,308,289 (GRCm39) |
Y228C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,612,423 (GRCm39) |
L17188* |
probably null |
Het |
| Unc45b |
A |
G |
11: 82,810,558 (GRCm39) |
K273E |
probably damaging |
Het |
| Usp32 |
A |
C |
11: 84,968,155 (GRCm39) |
Y169* |
probably null |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,908 (GRCm39) |
Y247N |
possibly damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,079,310 (GRCm39) |
C882* |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGTTAAGAGCTCTTACCGGC -3'
(R):5'- TGTCACCAAGATGACTGTCAC -3'
Sequencing Primer
(F):5'- GTTAAGAGCTCTTACCGGCACAATG -3'
(R):5'- TGACTGTCACTAGCCAGAGTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation