Incidental Mutation 'R1701:Rad54l2'
| ID |
189733 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
039734-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1701 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 106577692 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
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 |
|
| Meta Mutation Damage Score |
0.9485 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.8%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
A |
G |
4: 144,190,142 (GRCm39) |
L53P |
probably damaging |
Het |
| Acadsb |
T |
A |
7: 131,026,213 (GRCm39) |
F19I |
probably benign |
Het |
| Aldh3a2 |
C |
T |
11: 61,147,598 (GRCm39) |
G303S |
probably damaging |
Het |
| Anks1b |
T |
C |
10: 89,885,816 (GRCm39) |
Y171H |
probably damaging |
Het |
| Anxa7 |
A |
T |
14: 20,510,229 (GRCm39) |
I385N |
probably damaging |
Het |
| Astn1 |
A |
T |
1: 158,331,877 (GRCm39) |
T324S |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,427,427 (GRCm39) |
V235A |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,076,255 (GRCm39) |
K258R |
probably damaging |
Het |
| Ctnnd1 |
T |
C |
2: 84,439,335 (GRCm39) |
E786G |
probably damaging |
Het |
| Ctnnd2 |
G |
A |
15: 30,922,127 (GRCm39) |
D918N |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,802,750 (GRCm39) |
S200P |
probably damaging |
Het |
| Dot1l |
T |
C |
10: 80,626,576 (GRCm39) |
S1266P |
possibly damaging |
Het |
| Efemp1 |
A |
G |
11: 28,871,750 (GRCm39) |
T422A |
possibly damaging |
Het |
| Fam135b |
T |
C |
15: 71,331,578 (GRCm39) |
H1137R |
probably damaging |
Het |
| Flot2 |
C |
T |
11: 77,940,373 (GRCm39) |
S40L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,748,643 (GRCm39) |
S706N |
probably benign |
Het |
| Gbf1 |
T |
C |
19: 46,250,114 (GRCm39) |
L357P |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,726 (GRCm39) |
S476G |
probably benign |
Het |
| Hbb-bh2 |
T |
C |
7: 103,489,450 (GRCm39) |
T34A |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,231,656 (GRCm39) |
L443P |
probably damaging |
Het |
| Intu |
T |
A |
3: 40,618,694 (GRCm39) |
D233E |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,466,394 (GRCm39) |
K75E |
probably damaging |
Het |
| Kctd1 |
T |
A |
18: 15,102,617 (GRCm39) |
I259L |
possibly damaging |
Het |
| Lama5 |
A |
G |
2: 179,863,162 (GRCm39) |
C108R |
probably damaging |
Het |
| Lgals3bp |
T |
C |
11: 118,284,781 (GRCm39) |
Y266C |
probably damaging |
Het |
| Lrig2 |
T |
C |
3: 104,401,993 (GRCm39) |
I111V |
probably benign |
Het |
| Mtcl2 |
T |
C |
2: 156,872,539 (GRCm39) |
N936S |
probably damaging |
Het |
| Myh8 |
G |
T |
11: 67,170,964 (GRCm39) |
C125F |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,129 (GRCm39) |
C179F |
probably damaging |
Het |
| Or2h2 |
C |
T |
17: 37,396,623 (GRCm39) |
V145M |
probably benign |
Het |
| Or51a10 |
T |
C |
7: 103,699,402 (GRCm39) |
E53G |
possibly damaging |
Het |
| Or5ac21 |
T |
C |
16: 59,123,651 (GRCm39) |
I46T |
probably benign |
Het |
| Or5p76 |
T |
G |
7: 108,122,731 (GRCm39) |
Q142P |
probably benign |
Het |
| Or5w16 |
T |
A |
2: 87,576,894 (GRCm39) |
M118K |
probably damaging |
Het |
| Or6c202 |
T |
C |
10: 128,995,974 (GRCm39) |
Q293R |
probably damaging |
Het |
| Or8g4 |
A |
T |
9: 39,662,365 (GRCm39) |
I228F |
probably damaging |
Het |
| Pate8 |
A |
G |
9: 36,493,114 (GRCm39) |
|
probably benign |
Het |
| Phc2 |
C |
T |
4: 128,645,400 (GRCm39) |
P836S |
probably damaging |
Het |
| Pla2g7 |
T |
C |
17: 43,911,415 (GRCm39) |
F189S |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,342,054 (GRCm39) |
D487G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Robo4 |
G |
T |
9: 37,314,739 (GRCm39) |
V198L |
probably benign |
Het |
| Selenbp1 |
C |
A |
3: 94,844,701 (GRCm39) |
H119Q |
probably damaging |
Het |
| Slc25a13 |
T |
C |
6: 6,152,525 (GRCm39) |
|
probably null |
Het |
| Slc35f5 |
A |
G |
1: 125,498,330 (GRCm39) |
E176G |
possibly damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Tenm4 |
G |
A |
7: 96,552,096 (GRCm39) |
V2512M |
probably damaging |
Het |
| Tmc8 |
A |
G |
11: 117,682,188 (GRCm39) |
|
probably null |
Het |
| Trim30d |
C |
T |
7: 104,133,389 (GRCm39) |
W21* |
probably null |
Het |
| Ube3c |
G |
A |
5: 29,806,200 (GRCm39) |
V281I |
probably benign |
Het |
| Usp17ld |
T |
C |
7: 102,899,783 (GRCm39) |
K383R |
probably benign |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,529 (GRCm39) |
Y138F |
probably damaging |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,395 (GRCm39) |
V186A |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,828,754 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
T |
C |
7: 41,949,935 (GRCm39) |
F785S |
probably damaging |
Het |
| Zfp141 |
T |
A |
7: 42,125,470 (GRCm39) |
Y334F |
probably benign |
Het |
| Zfp609 |
T |
C |
9: 65,638,282 (GRCm39) |
I317V |
probably benign |
Het |
| Zfp879 |
A |
G |
11: 50,724,060 (GRCm39) |
I259T |
possibly 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 |
|
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 |
|
R9757:Rad54l2
|
UTSW |
9 |
106,595,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ggaacatatgAACACTGGTACACACATGA -3'
(R):5'- CAGCCAACACTGAAGGGTGATGAA -3'
Sequencing Primer
(F):5'- agaaaggaagggagggagg -3'
(R):5'- CTGAAGGGTGATGAAAAGCCTG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation