Incidental Mutation 'R8084:Rad54l2'
| ID |
629526 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
067517-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8084 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 106590701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 475
(T475I)
|
| 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: T475I
PolyPhen 2
Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: T475I
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (75/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca2 |
T |
A |
2: 25,323,979 (GRCm39) |
Y190N |
probably benign |
Het |
| Acsl3 |
G |
A |
1: 78,669,844 (GRCm39) |
D238N |
probably damaging |
Het |
| Acss1 |
T |
A |
2: 150,484,701 (GRCm39) |
I181F |
probably damaging |
Het |
| Ano5 |
A |
G |
7: 51,229,287 (GRCm39) |
I610V |
probably benign |
Het |
| Anxa6 |
A |
T |
11: 54,894,834 (GRCm39) |
F256I |
probably damaging |
Het |
| Ash2l |
A |
G |
8: 26,321,322 (GRCm39) |
S273P |
probably benign |
Het |
| Baz2b |
T |
G |
2: 59,792,580 (GRCm39) |
E516A |
probably benign |
Het |
| Bbs2 |
G |
T |
8: 94,814,056 (GRCm39) |
D187E |
probably damaging |
Het |
| Cacna1b |
T |
A |
2: 24,575,808 (GRCm39) |
M747L |
probably benign |
Het |
| Cacna2d4 |
C |
A |
6: 119,277,313 (GRCm39) |
D675E |
probably damaging |
Het |
| Calcr |
G |
A |
6: 3,687,615 (GRCm39) |
T461M |
probably benign |
Het |
| Catip |
A |
G |
1: 74,403,515 (GRCm39) |
K126E |
probably damaging |
Het |
| Chga |
T |
C |
12: 102,528,328 (GRCm39) |
I273T |
probably benign |
Het |
| Clasp2 |
G |
A |
9: 113,676,823 (GRCm39) |
V185I |
probably benign |
Het |
| Cracr2a |
A |
G |
6: 127,616,135 (GRCm39) |
N370S |
probably benign |
Het |
| Crygc |
A |
T |
1: 65,110,981 (GRCm39) |
V102D |
probably benign |
Het |
| Ddx23 |
A |
G |
15: 98,556,145 (GRCm39) |
S58P |
unknown |
Het |
| Dlgap5 |
C |
T |
14: 47,645,298 (GRCm39) |
G281D |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,388,099 (GRCm39) |
Y3186F |
probably damaging |
Het |
| Dpp6 |
A |
C |
5: 27,836,397 (GRCm39) |
I296L |
probably benign |
Het |
| Elfn2 |
C |
T |
15: 78,556,660 (GRCm39) |
R629H |
probably damaging |
Het |
| Eml2 |
G |
T |
7: 18,915,149 (GRCm39) |
|
probably null |
Het |
| Fitm1 |
T |
A |
14: 55,813,906 (GRCm39) |
V134E |
probably damaging |
Het |
| Flnb |
A |
G |
14: 7,907,243 (GRCm38) |
N1272S |
probably benign |
Het |
| Fuca1 |
G |
A |
4: 135,662,114 (GRCm39) |
W347* |
probably null |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gls2 |
G |
A |
10: 128,035,125 (GRCm39) |
R86H |
probably damaging |
Het |
| Grin2b |
T |
C |
6: 135,710,486 (GRCm39) |
K1020R |
probably benign |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,327 (GRCm39) |
W149R |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,217 (GRCm39) |
S3629R |
probably benign |
Het |
| Itih4 |
A |
T |
14: 30,621,400 (GRCm39) |
N821I |
possibly damaging |
Het |
| Kmt2d |
A |
T |
15: 98,739,945 (GRCm39) |
L4731Q |
unknown |
Het |
| Loxhd1 |
A |
T |
18: 77,427,845 (GRCm39) |
I472F |
possibly damaging |
Het |
| Lrp2 |
C |
A |
2: 69,339,713 (GRCm39) |
C1066F |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,114,637 (GRCm39) |
F114I |
probably damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,636 (GRCm39) |
E434G |
probably benign |
Het |
| N6amt1 |
T |
C |
16: 87,151,228 (GRCm39) |
F30L |
probably damaging |
Het |
| Naca |
G |
A |
10: 127,877,400 (GRCm39) |
V811I |
unknown |
Het |
| Nobox |
A |
C |
6: 43,282,101 (GRCm39) |
I324S |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,043,365 (GRCm39) |
S442P |
probably benign |
Het |
| Or6c2 |
A |
T |
10: 129,362,809 (GRCm39) |
T238S |
probably damaging |
Het |
| Osbpl1a |
A |
T |
18: 13,038,099 (GRCm39) |
L284Q |
probably damaging |
Het |
| Pals1 |
A |
T |
12: 78,867,625 (GRCm39) |
Q336L |
probably benign |
Het |
| Pcdhb20 |
A |
C |
18: 37,639,226 (GRCm39) |
Y584S |
possibly damaging |
Het |
| Pgpep1l |
A |
T |
7: 67,887,519 (GRCm39) |
F27Y |
probably benign |
Het |
| Pik3cg |
T |
G |
12: 32,245,687 (GRCm39) |
I854L |
probably benign |
Het |
| Pot1a |
C |
T |
6: 25,771,535 (GRCm39) |
V229M |
possibly damaging |
Het |
| Prh1 |
C |
T |
6: 132,548,822 (GRCm39) |
P110S |
unknown |
Het |
| Prkag3 |
C |
T |
1: 74,786,366 (GRCm39) |
C193Y |
probably damaging |
Het |
| Prl2c5 |
T |
C |
13: 13,360,539 (GRCm39) |
F69L |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,444,294 (GRCm39) |
T1437A |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,427,317 (GRCm39) |
Y633H |
probably damaging |
Het |
| Retreg1 |
C |
A |
15: 25,969,885 (GRCm39) |
A130E |
probably benign |
Het |
| Rps6kb1 |
G |
T |
11: 86,426,262 (GRCm39) |
H56N |
probably benign |
Het |
| Sars2 |
A |
G |
7: 28,449,710 (GRCm39) |
H385R |
probably damaging |
Het |
| Sbpl |
T |
G |
17: 24,172,244 (GRCm39) |
N225T |
unknown |
Het |
| Scml4 |
T |
C |
10: 42,806,602 (GRCm39) |
|
probably null |
Het |
| Scrib |
G |
A |
15: 75,937,940 (GRCm39) |
T302M |
probably benign |
Het |
| Sdk2 |
G |
A |
11: 113,717,915 (GRCm39) |
T1483I |
possibly damaging |
Het |
| Sh3bgrl3 |
A |
G |
4: 133,855,390 (GRCm39) |
S19P |
probably damaging |
Het |
| Slc10a6 |
C |
T |
5: 103,760,327 (GRCm39) |
V223I |
probably benign |
Het |
| Slc4a3 |
A |
G |
1: 75,532,589 (GRCm39) |
T950A |
probably benign |
Het |
| Spats2 |
A |
T |
15: 99,064,961 (GRCm39) |
D9V |
possibly damaging |
Het |
| Sphk1 |
A |
T |
11: 116,425,904 (GRCm39) |
|
probably null |
Het |
| Tex10 |
A |
T |
4: 48,431,066 (GRCm39) |
S897R |
probably benign |
Het |
| Tmco3 |
T |
C |
8: 13,353,873 (GRCm39) |
V395A |
probably damaging |
Het |
| Ttc7b |
A |
G |
12: 100,350,432 (GRCm39) |
L478P |
probably damaging |
Het |
| Ubac2 |
T |
C |
14: 122,220,717 (GRCm39) |
M184T |
probably benign |
Het |
| Wdr95 |
T |
C |
5: 149,511,598 (GRCm39) |
S433P |
probably damaging |
Het |
| Zfp202 |
T |
A |
9: 40,122,538 (GRCm39) |
H433Q |
probably benign |
Het |
| Zfp526 |
G |
T |
7: 24,924,737 (GRCm39) |
R332L |
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 |
|
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'- CCGTTTAGGATAGGGCGTTC -3'
(R):5'- GTAGGAGCTTATCTGGCTGC -3'
Sequencing Primer
(F):5'- GGGCGTTCAAACATGTTGCTAAAC -3'
(R):5'- CAATGGGGGCTGACTCTTGC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation