Incidental Mutation 'R8552:Rad54l2'
| ID |
659913 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8552 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106570777 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1181
(Q1181L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046502
AA Change: Q1181L
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: Q1181L
| 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: ENSMUST00000189553
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg2 |
A |
G |
6: 58,646,210 (GRCm39) |
H242R |
possibly damaging |
Het |
| Adam1b |
G |
T |
5: 121,639,504 (GRCm39) |
R514S |
probably benign |
Het |
| Adprs |
A |
G |
4: 126,210,368 (GRCm39) |
*371Q |
probably null |
Het |
| Arid4a |
T |
C |
12: 71,106,849 (GRCm39) |
L307P |
probably benign |
Het |
| Armc12 |
C |
T |
17: 28,757,675 (GRCm39) |
A269V |
probably benign |
Het |
| Asb1 |
T |
A |
1: 91,480,078 (GRCm39) |
V259E |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,435,797 (GRCm39) |
Y171C |
probably damaging |
Het |
| Atp8a2 |
A |
T |
14: 60,011,431 (GRCm39) |
F959L |
probably benign |
Het |
| B4galt3 |
G |
T |
1: 171,101,917 (GRCm39) |
E34D |
possibly damaging |
Het |
| Cacna1i |
A |
G |
15: 80,204,598 (GRCm39) |
N90S |
possibly damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,060 (GRCm39) |
*215L |
probably null |
Het |
| Cep162 |
C |
T |
9: 87,126,361 (GRCm39) |
E184K |
probably benign |
Het |
| Cnga3 |
C |
T |
1: 37,284,060 (GRCm39) |
P121L |
probably benign |
Het |
| Cpt1b |
G |
A |
15: 89,306,524 (GRCm39) |
R285C |
probably damaging |
Het |
| Defb18 |
T |
C |
1: 18,306,791 (GRCm39) |
Y55C |
probably damaging |
Het |
| Depdc1b |
C |
T |
13: 108,493,959 (GRCm39) |
P116S |
probably damaging |
Het |
| Dhx16 |
C |
T |
17: 36,192,183 (GRCm39) |
A74V |
possibly damaging |
Het |
| Dnajc21 |
A |
T |
15: 10,464,005 (GRCm39) |
Y53* |
probably null |
Het |
| Dse |
T |
C |
10: 34,028,316 (GRCm39) |
R925G |
possibly damaging |
Het |
| Dsp |
C |
T |
13: 38,369,117 (GRCm39) |
L738F |
probably damaging |
Het |
| Erv3 |
T |
C |
2: 131,698,261 (GRCm39) |
K33E |
possibly damaging |
Het |
| Gas2l2 |
T |
A |
11: 83,312,907 (GRCm39) |
T802S |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,324,378 (GRCm39) |
L49S |
possibly damaging |
Het |
| Gigyf1 |
G |
T |
5: 137,521,401 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
T |
A |
10: 94,131,061 (GRCm39) |
I83L |
unknown |
Het |
| Ighv9-3 |
A |
G |
12: 114,104,349 (GRCm39) |
L105P |
probably damaging |
Het |
| Krtap5-1 |
C |
A |
7: 141,850,160 (GRCm39) |
W189L |
probably null |
Het |
| Krtap5-3 |
T |
A |
7: 141,756,089 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
T |
A |
2: 41,298,993 (GRCm39) |
E108D |
probably benign |
Het |
| Lrrc66 |
G |
A |
5: 73,768,228 (GRCm39) |
P238S |
probably benign |
Het |
| Ms4a4c |
C |
T |
19: 11,392,196 (GRCm39) |
Q6* |
probably null |
Het |
| Or5b97 |
A |
G |
19: 12,879,096 (GRCm39) |
L16P |
probably damaging |
Het |
| Or6d14 |
G |
T |
6: 116,534,289 (GRCm39) |
R301L |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pinx1 |
A |
G |
14: 64,156,972 (GRCm39) |
R300G |
probably benign |
Het |
| Pkd1 |
T |
A |
17: 24,810,443 (GRCm39) |
H92Q |
probably damaging |
Het |
| Rbl1 |
A |
T |
2: 157,038,174 (GRCm39) |
V131E |
probably damaging |
Het |
| Rbp3 |
A |
G |
14: 33,677,621 (GRCm39) |
E523G |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,035,698 (GRCm39) |
C130F |
probably damaging |
Het |
| Smcr8 |
T |
C |
11: 60,670,979 (GRCm39) |
L709S |
probably damaging |
Het |
| Spef2 |
A |
G |
15: 9,600,765 (GRCm39) |
|
probably benign |
Het |
| Teddm1b |
T |
A |
1: 153,750,194 (GRCm39) |
M1K |
probably null |
Het |
| Tes |
A |
G |
6: 17,097,327 (GRCm39) |
Y60C |
probably damaging |
Het |
| Tmem104 |
T |
C |
11: 115,088,144 (GRCm39) |
L43P |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,213 (GRCm39) |
E618G |
probably damaging |
Het |
| Tnfaip3 |
T |
C |
10: 18,880,414 (GRCm39) |
D551G |
probably damaging |
Het |
| Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
| Trim30b |
T |
A |
7: 104,015,236 (GRCm39) |
T51S |
probably benign |
Het |
| Trmt44 |
G |
T |
5: 35,722,744 (GRCm39) |
H441Q |
probably benign |
Het |
| Tshr |
C |
A |
12: 91,504,059 (GRCm39) |
D332E |
probably benign |
Het |
| Usp10 |
C |
T |
8: 120,683,367 (GRCm39) |
T746M |
possibly damaging |
Het |
| Vmn1r8 |
A |
T |
6: 57,013,138 (GRCm39) |
D63V |
possibly damaging |
Het |
| Vps13a |
A |
C |
19: 16,731,684 (GRCm39) |
L143V |
probably damaging |
Het |
| Wnt3a |
T |
A |
11: 59,166,043 (GRCm39) |
H79L |
probably damaging |
Het |
| Zbtb7a |
C |
T |
10: 80,980,141 (GRCm39) |
R112W |
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 |
|
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'- TTATGGCCCCTTAAGTCCAGC -3'
(R):5'- CAGCAGCGTTGTTATCTCTTG -3'
Sequencing Primer
(F):5'- ACTGGGCTGGCCAGTCAC -3'
(R):5'- AGCGTTGTTATCTCTTGATGCTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation