Incidental Mutation 'R4063:Rad54l2'
ID |
315968 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
041619-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4063 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 106597613 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 131
(Q131L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046502
AA Change: Q131L
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: Q131L
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
|
Meta Mutation Damage Score |
0.0766 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
97% (59/61) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700034J05Rik |
A |
T |
6: 146,854,606 (GRCm39) |
F145L |
probably benign |
Het |
Abcc9 |
T |
C |
6: 142,551,645 (GRCm39) |
D1221G |
possibly damaging |
Het |
Adamtsl4 |
T |
C |
3: 95,584,864 (GRCm39) |
K935E |
probably benign |
Het |
Ago4 |
A |
T |
4: 126,409,655 (GRCm39) |
|
probably benign |
Het |
Arhgef28 |
T |
C |
13: 98,130,575 (GRCm39) |
D421G |
probably benign |
Het |
Armh4 |
T |
A |
14: 50,011,444 (GRCm39) |
M88L |
probably benign |
Het |
Atl2 |
T |
C |
17: 80,157,588 (GRCm39) |
*413W |
probably null |
Het |
B4galt7 |
C |
A |
13: 55,756,152 (GRCm39) |
|
probably null |
Het |
Bltp3b |
A |
G |
10: 89,651,917 (GRCm39) |
N247S |
probably benign |
Het |
C8g |
A |
T |
2: 25,389,425 (GRCm39) |
S147T |
probably damaging |
Het |
Clstn3 |
A |
T |
6: 124,426,792 (GRCm39) |
Y510N |
possibly damaging |
Het |
Cnot2 |
A |
G |
10: 116,373,301 (GRCm39) |
V34A |
possibly damaging |
Het |
Cyb5d2 |
A |
T |
11: 72,686,606 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
T |
C |
15: 28,421,144 (GRCm39) |
I3827T |
probably damaging |
Het |
Dnah7a |
G |
T |
1: 53,464,376 (GRCm39) |
Q3672K |
probably benign |
Het |
Dock1 |
A |
T |
7: 134,717,021 (GRCm39) |
Y1219F |
possibly damaging |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Fat1 |
A |
T |
8: 45,478,518 (GRCm39) |
E2521D |
probably benign |
Het |
Gm10719 |
G |
T |
9: 3,019,043 (GRCm39) |
W96L |
probably damaging |
Het |
H2-M2 |
G |
A |
17: 37,792,399 (GRCm39) |
H291Y |
probably damaging |
Het |
Hmgcl |
T |
C |
4: 135,686,035 (GRCm39) |
Y167H |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,502,400 (GRCm39) |
D73V |
possibly damaging |
Het |
Incenp |
A |
T |
19: 9,861,142 (GRCm39) |
M480K |
unknown |
Het |
Irag1 |
G |
T |
7: 110,522,984 (GRCm39) |
A359D |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,117,114 (GRCm39) |
T266A |
probably benign |
Het |
Lipf |
A |
G |
19: 33,942,965 (GRCm39) |
N91S |
probably benign |
Het |
M1ap |
A |
T |
6: 82,980,756 (GRCm39) |
N214I |
probably damaging |
Het |
Mast3 |
A |
G |
8: 71,233,838 (GRCm39) |
V969A |
probably damaging |
Het |
Mdga1 |
A |
G |
17: 30,057,005 (GRCm39) |
C826R |
probably damaging |
Het |
Msx1 |
C |
A |
5: 37,981,365 (GRCm39) |
A105S |
probably benign |
Het |
Or5ac23 |
A |
C |
16: 59,149,243 (GRCm39) |
S210A |
probably benign |
Het |
Otogl |
A |
T |
10: 107,626,510 (GRCm39) |
D1451E |
probably benign |
Het |
Otop2 |
G |
A |
11: 115,220,201 (GRCm39) |
G347D |
probably damaging |
Het |
Ppp1r13l |
A |
T |
7: 19,103,978 (GRCm39) |
H153L |
probably benign |
Het |
Pramel21 |
A |
G |
4: 143,342,559 (GRCm39) |
D222G |
possibly damaging |
Het |
Pramel29 |
T |
C |
4: 143,935,265 (GRCm39) |
K161E |
possibly damaging |
Het |
Proz |
A |
G |
8: 13,114,621 (GRCm39) |
Y85C |
probably damaging |
Het |
Prss50 |
A |
G |
9: 110,687,480 (GRCm39) |
D141G |
probably benign |
Het |
Sdha |
A |
G |
13: 74,472,077 (GRCm39) |
|
probably benign |
Het |
Sema3d |
T |
A |
5: 12,635,091 (GRCm39) |
I719N |
probably benign |
Het |
Slc18b1 |
A |
T |
10: 23,681,879 (GRCm39) |
I148L |
probably benign |
Het |
Tacc2 |
G |
T |
7: 130,330,852 (GRCm39) |
D2086Y |
probably damaging |
Het |
Tchh |
T |
C |
3: 93,354,298 (GRCm39) |
L1246P |
unknown |
Het |
Tmprss11d |
T |
C |
5: 86,457,177 (GRCm39) |
I161V |
probably benign |
Het |
Trpc3 |
T |
C |
3: 36,725,172 (GRCm39) |
D268G |
probably damaging |
Het |
Trpm8 |
G |
A |
1: 88,289,727 (GRCm39) |
R895H |
probably damaging |
Het |
Txndc2 |
A |
G |
17: 65,945,079 (GRCm39) |
I366T |
possibly damaging |
Het |
Ugt2a3 |
T |
C |
5: 87,484,725 (GRCm39) |
I100V |
probably benign |
Het |
Upp1 |
C |
A |
11: 9,081,709 (GRCm39) |
P82Q |
probably damaging |
Het |
Vim |
A |
G |
2: 13,584,827 (GRCm39) |
|
probably null |
Het |
Vmn2r12 |
A |
T |
5: 109,240,058 (GRCm39) |
N168K |
possibly damaging |
Het |
Zdhhc14 |
G |
T |
17: 5,802,983 (GRCm39) |
C362F |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,810,863 (GRCm39) |
V727A |
probably damaging |
Het |
Zswim5 |
G |
A |
4: 116,735,177 (GRCm39) |
G174D |
unknown |
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 |
|
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'- AGACCTATCTGACCACTCTGC -3'
(R):5'- TTCAGAACCATTGAGCTTTACCC -3'
Sequencing Primer
(F):5'- TATCTGACCACTCTGCGAGCTAAG -3'
(R):5'- GCTGTCCTGGAACTCACTATGTAG -3'
|
Posted On |
2015-05-15 |