Incidental Mutation 'R7148:Rad54l2'
ID |
553955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l2
|
Ensembl Gene |
ENSMUSG00000040661 |
Gene Name |
RAD54 like 2 (S. cerevisiae) |
Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
MMRRC Submission |
045225-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7148 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 106596318 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Stop codon
at position 207
(G207*)
|
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
AA Change: G207*
|
SMART Domains |
Protein: ENSMUSP00000045454 Gene: ENSMUSG00000040661 AA Change: G207*
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
T |
A |
14: 32,110,269 (GRCm39) |
Y14F |
probably damaging |
Het |
Acly |
A |
G |
11: 100,374,608 (GRCm39) |
V805A |
possibly damaging |
Het |
Apcdd1 |
T |
C |
18: 63,084,916 (GRCm39) |
V371A |
probably damaging |
Het |
Cacna1g |
A |
T |
11: 94,356,756 (GRCm39) |
F127I |
probably benign |
Het |
Ccdc138 |
T |
C |
10: 58,374,102 (GRCm39) |
L374P |
probably damaging |
Het |
Ces2b |
A |
G |
8: 105,564,928 (GRCm39) |
Y504C |
probably damaging |
Het |
Ces5a |
C |
T |
8: 94,228,950 (GRCm39) |
G427S |
probably damaging |
Het |
Chd1l |
C |
T |
3: 97,498,632 (GRCm39) |
V256M |
probably damaging |
Het |
Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
Dmbt1 |
T |
A |
7: 130,668,464 (GRCm39) |
C573* |
probably null |
Het |
Emcn |
A |
T |
3: 137,122,855 (GRCm39) |
Y188F |
possibly damaging |
Het |
Eva1a |
T |
G |
6: 82,048,125 (GRCm39) |
M1R |
probably null |
Het |
Fam243 |
T |
C |
16: 92,117,875 (GRCm39) |
K138E |
probably benign |
Het |
Fam83h |
C |
A |
15: 75,877,016 (GRCm39) |
D194Y |
probably damaging |
Het |
Flywch1 |
T |
C |
17: 23,974,649 (GRCm39) |
K664E |
probably benign |
Het |
Fzd9 |
A |
G |
5: 135,278,544 (GRCm39) |
V447A |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,138,863 (GRCm39) |
D93G |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,562,605 (GRCm39) |
I2318V |
probably benign |
Het |
Hyal5 |
T |
A |
6: 24,876,901 (GRCm39) |
L258Q |
probably damaging |
Het |
Itprid1 |
T |
C |
6: 55,874,671 (GRCm39) |
I207T |
probably damaging |
Het |
Kmo |
T |
A |
1: 175,479,168 (GRCm39) |
C235S |
probably damaging |
Het |
Lamc2 |
G |
A |
1: 153,061,730 (GRCm39) |
P2S |
probably benign |
Het |
Lman2 |
G |
A |
13: 55,500,762 (GRCm39) |
P146S |
probably benign |
Het |
Mars2 |
T |
C |
1: 55,276,673 (GRCm39) |
I92T |
probably damaging |
Het |
Msh3 |
A |
G |
13: 92,491,330 (GRCm39) |
F27L |
probably benign |
Het |
Myom2 |
T |
C |
8: 15,134,577 (GRCm39) |
V460A |
possibly damaging |
Het |
Nicn1 |
T |
A |
9: 108,172,306 (GRCm39) |
*214R |
probably null |
Het |
Nsd2 |
T |
C |
5: 34,042,855 (GRCm39) |
F1040L |
possibly damaging |
Het |
Or1ab2 |
T |
A |
8: 72,864,001 (GRCm39) |
I197N |
possibly damaging |
Het |
Osm |
T |
A |
11: 4,189,936 (GRCm39) |
I240N |
probably benign |
Het |
Pard3b |
T |
A |
1: 62,479,191 (GRCm39) |
D884E |
probably benign |
Het |
Pex5 |
T |
G |
6: 124,382,231 (GRCm39) |
D150A |
probably benign |
Het |
Pfkfb4 |
T |
C |
9: 108,856,676 (GRCm39) |
V394A |
probably damaging |
Het |
Pjvk |
A |
G |
2: 76,488,831 (GRCm39) |
K334R |
possibly damaging |
Het |
Pkd1l2 |
T |
C |
8: 117,807,525 (GRCm39) |
D171G |
probably benign |
Het |
Prpf4b |
T |
G |
13: 35,078,455 (GRCm39) |
N688K |
probably benign |
Het |
R3hcc1 |
T |
C |
14: 69,943,001 (GRCm39) |
E192G |
possibly damaging |
Het |
Rhobtb3 |
G |
T |
13: 76,059,006 (GRCm39) |
T264K |
probably benign |
Het |
Rpl27 |
A |
G |
11: 101,333,232 (GRCm39) |
|
probably benign |
Het |
Rxfp3 |
C |
T |
15: 11,036,863 (GRCm39) |
V170I |
possibly damaging |
Het |
Samd4 |
T |
A |
14: 47,254,140 (GRCm39) |
S201R |
probably benign |
Het |
Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
Semp2l2a |
T |
A |
8: 13,887,996 (GRCm39) |
I32L |
probably benign |
Het |
Sirpb1c |
A |
T |
3: 15,887,223 (GRCm39) |
Y205* |
probably null |
Het |
Smc3 |
A |
T |
19: 53,630,326 (GRCm39) |
E1111V |
possibly damaging |
Het |
Sowaha |
C |
A |
11: 53,370,182 (GRCm39) |
V185L |
probably benign |
Het |
Spata4 |
A |
C |
8: 55,055,585 (GRCm39) |
I159L |
probably benign |
Het |
Spring1 |
A |
G |
5: 118,393,759 (GRCm39) |
N46D |
probably benign |
Het |
Tekt2 |
A |
G |
4: 126,216,174 (GRCm39) |
I373T |
probably benign |
Het |
Tle7 |
G |
T |
8: 110,836,048 (GRCm39) |
R119I |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,164,313 (GRCm39) |
V65A |
probably benign |
Het |
Trabd2b |
A |
G |
4: 114,266,547 (GRCm39) |
D187G |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,758,613 (GRCm39) |
I2147V |
possibly damaging |
Het |
Tsc22d2 |
T |
A |
3: 58,324,429 (GRCm39) |
C440* |
probably null |
Het |
Ube3b |
A |
C |
5: 114,544,313 (GRCm39) |
N570T |
probably damaging |
Het |
Uevld |
A |
G |
7: 46,600,724 (GRCm39) |
I70T |
probably damaging |
Het |
Usp10 |
C |
T |
8: 120,663,289 (GRCm39) |
T37I |
possibly damaging |
Het |
Vmn2r23 |
T |
A |
6: 123,689,981 (GRCm39) |
F286I |
probably benign |
Het |
Vmn2r62 |
A |
G |
7: 42,414,640 (GRCm39) |
V601A |
probably benign |
Het |
Wdr81 |
G |
C |
11: 75,336,828 (GRCm39) |
N401K |
|
Het |
Ythdc2 |
G |
T |
18: 44,966,189 (GRCm39) |
V142F |
probably benign |
Het |
Zfp346 |
T |
C |
13: 55,253,263 (GRCm39) |
F36S |
possibly damaging |
Het |
Zfp748 |
C |
T |
13: 67,690,358 (GRCm39) |
V301M |
possibly damaging |
Het |
Zim1 |
T |
C |
7: 6,681,220 (GRCm39) |
K148E |
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 |
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 |
|
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'- TGATGAGGTTTCACAGCCC -3'
(R):5'- TGGAGTCTACCTCTAGCACG -3'
Sequencing Primer
(F):5'- GTTTCACAGCCCGTGCCAAC -3'
(R):5'- AGCACGTATCCCTGTGTTAACTTAG -3'
|
Posted On |
2019-05-15 |