Incidental Mutation 'R7327:Rad54l2'
| ID |
568996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
045420-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7327 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106570660 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1220
(L1220P)
|
| 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: L1220P
PolyPhen 2
Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: L1220P
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (63/63) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
C |
T |
16: 20,367,430 (GRCm39) |
T3I |
probably benign |
Het |
| Ahi1 |
T |
A |
10: 20,862,976 (GRCm39) |
V717E |
probably damaging |
Het |
| Anapc4 |
A |
G |
5: 53,002,672 (GRCm39) |
T238A |
probably damaging |
Het |
| Arhgap27 |
A |
T |
11: 103,251,367 (GRCm39) |
C120* |
probably null |
Het |
| Bdp1 |
A |
T |
13: 100,178,040 (GRCm39) |
V1943D |
probably damaging |
Het |
| Cdc14b |
A |
G |
13: 64,373,461 (GRCm39) |
V141A |
probably damaging |
Het |
| Cfap46 |
G |
T |
7: 139,215,062 (GRCm39) |
|
probably null |
Het |
| Cgnl1 |
C |
A |
9: 71,633,165 (GRCm39) |
R62L |
possibly damaging |
Het |
| Chaf1a |
A |
G |
17: 56,369,573 (GRCm39) |
S522G |
probably benign |
Het |
| Cox19 |
A |
G |
5: 139,328,402 (GRCm39) |
F37S |
probably damaging |
Het |
| Csmd1 |
G |
A |
8: 16,108,721 (GRCm39) |
S1894L |
probably damaging |
Het |
| Cyp4a12a |
A |
T |
4: 115,184,756 (GRCm39) |
R346W |
probably damaging |
Het |
| Dip2a |
A |
C |
10: 76,108,396 (GRCm39) |
C1315G |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,308,869 (GRCm39) |
W1961G |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,240,486 (GRCm39) |
L1945P |
probably damaging |
Het |
| Efr3a |
A |
G |
15: 65,691,627 (GRCm39) |
S92G |
probably damaging |
Het |
| Ep300 |
C |
T |
15: 81,511,515 (GRCm39) |
T865I |
unknown |
Het |
| Ercc6 |
A |
G |
14: 32,248,361 (GRCm39) |
E304G |
probably benign |
Het |
| Filip1l |
A |
C |
16: 57,391,300 (GRCm39) |
E629D |
probably damaging |
Het |
| Frem1 |
G |
A |
4: 82,938,992 (GRCm39) |
T30I |
possibly damaging |
Het |
| Glb1 |
T |
C |
9: 114,246,126 (GRCm39) |
F59S |
probably benign |
Het |
| Gli3 |
T |
C |
13: 15,900,144 (GRCm39) |
L1177P |
probably benign |
Het |
| Gpatch2l |
A |
G |
12: 86,303,646 (GRCm39) |
T223A |
probably damaging |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,479,565 (GRCm39) |
M4633K |
probably benign |
Het |
| Hoxc8 |
T |
A |
15: 102,899,542 (GRCm39) |
Y111N |
probably damaging |
Het |
| Ifi207 |
A |
G |
1: 173,556,581 (GRCm39) |
L726P |
probably benign |
Het |
| Iqcn |
T |
A |
8: 71,169,453 (GRCm39) |
M1181K |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,772,163 (GRCm39) |
M1339L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,087,387 (GRCm39) |
Q901R |
possibly damaging |
Het |
| Krtap4-8 |
C |
A |
11: 99,671,234 (GRCm39) |
C79F |
unknown |
Het |
| Ldb3 |
T |
C |
14: 34,293,759 (GRCm39) |
N155S |
probably damaging |
Het |
| Mad2l1 |
T |
A |
6: 66,516,794 (GRCm39) |
V162E |
probably benign |
Het |
| Map7 |
T |
A |
10: 20,109,208 (GRCm39) |
V87E |
unknown |
Het |
| Mndal |
A |
T |
1: 173,703,185 (GRCm39) |
D73E |
unknown |
Het |
| Msantd1 |
T |
C |
5: 35,075,039 (GRCm39) |
S34P |
probably damaging |
Het |
| Myh14 |
T |
C |
7: 44,260,977 (GRCm39) |
Q1838R |
possibly damaging |
Het |
| Myh15 |
G |
T |
16: 48,993,369 (GRCm39) |
R1668L |
possibly damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,796 (GRCm39) |
M666T |
probably damaging |
Het |
| Nol6 |
A |
T |
4: 41,116,686 (GRCm39) |
L944Q |
probably benign |
Het |
| Or5h27 |
A |
T |
16: 59,006,376 (GRCm39) |
F157I |
unknown |
Het |
| Orc1 |
A |
G |
4: 108,445,911 (GRCm39) |
T10A |
probably benign |
Het |
| Pcp4l1 |
G |
A |
1: 171,002,034 (GRCm39) |
A42V |
possibly damaging |
Het |
| Pglyrp2 |
C |
T |
17: 32,634,893 (GRCm39) |
A490T |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,720,187 (GRCm39) |
C395* |
probably null |
Het |
| Ppp1r11 |
T |
C |
17: 37,261,900 (GRCm39) |
R12G |
possibly damaging |
Het |
| Prlr |
A |
G |
15: 10,346,524 (GRCm39) |
D290G |
probably benign |
Het |
| Ptpn21 |
G |
T |
12: 98,646,360 (GRCm39) |
R1033S |
probably damaging |
Het |
| Rufy3 |
G |
A |
5: 88,790,811 (GRCm39) |
R504H |
probably damaging |
Het |
| Scgb2b21 |
C |
T |
7: 33,219,330 (GRCm39) |
V25I |
probably benign |
Het |
| Sh3bgrl2 |
T |
C |
9: 83,430,542 (GRCm39) |
S11P |
possibly damaging |
Het |
| Slain2 |
A |
T |
5: 73,132,002 (GRCm39) |
T498S |
probably benign |
Het |
| Slc12a4 |
C |
T |
8: 106,682,347 (GRCm39) |
G121S |
probably damaging |
Het |
| Slc30a9 |
A |
T |
5: 67,499,462 (GRCm39) |
I307F |
probably damaging |
Het |
| Snap91 |
C |
T |
9: 86,655,598 (GRCm39) |
G800R |
unknown |
Het |
| Tnc |
G |
T |
4: 63,882,999 (GRCm39) |
|
probably null |
Het |
| Trav21-dv12 |
T |
C |
14: 54,113,514 (GRCm39) |
|
probably benign |
Het |
| Txk |
A |
T |
5: 72,873,226 (GRCm39) |
I228N |
probably damaging |
Het |
| Vac14 |
T |
C |
8: 111,438,252 (GRCm39) |
Y622H |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wdr35 |
T |
G |
12: 9,037,312 (GRCm39) |
M306R |
probably benign |
Het |
| Zan |
A |
T |
5: 137,463,494 (GRCm39) |
S562T |
probably benign |
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 |
|
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'- ATGTTCATAGGGCTGCACGG -3'
(R):5'- GCAGACATAGTGCCTCATCACC -3'
Sequencing Primer
(F):5'- ACGGGGGCTGGCAGATG -3'
(R):5'- TAGTGCCTCATCACCCAAAG -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation