Incidental Mutation 'R4872:Rad54l2'
| ID |
376666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l2
|
| Ensembl Gene |
ENSMUSG00000040661 |
| Gene Name |
RAD54 like 2 (S. cerevisiae) |
| Synonyms |
Srisnf2l, G630026H09Rik, Arip4 |
| MMRRC Submission |
042482-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4872 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
106565281-106666393 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106595091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 289
(S289P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046502]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046502
AA Change: S289P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045454
Gene: ENSMUSG00000040661
AA Change: S289P
| 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 |
0.6954 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
C |
A |
15: 91,075,514 (GRCm39) |
V100L |
probably benign |
Het |
| Acad11 |
G |
A |
9: 103,963,465 (GRCm39) |
|
probably benign |
Het |
| Actb |
C |
T |
5: 142,891,307 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,773,103 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
G |
T |
17: 28,109,110 (GRCm39) |
D1110Y |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,155,551 (GRCm39) |
L350Q |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,281 (GRCm39) |
|
probably null |
Het |
| Cd72 |
A |
G |
4: 43,449,563 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,801,973 (GRCm39) |
S516T |
probably benign |
Het |
| Chst5 |
T |
A |
8: 112,617,192 (GRCm39) |
I143F |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,639,156 (GRCm39) |
V452A |
possibly damaging |
Het |
| Cox11 |
C |
A |
11: 90,535,229 (GRCm39) |
Q227K |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,665,843 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpm2 |
T |
C |
2: 32,461,203 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Frem1 |
A |
C |
4: 82,881,387 (GRCm39) |
N1273K |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,317,704 (GRCm39) |
|
probably null |
Het |
| Gm10306 |
G |
T |
4: 94,445,069 (GRCm39) |
|
probably benign |
Het |
| Gm5565 |
T |
C |
5: 146,094,913 (GRCm39) |
T278A |
probably benign |
Het |
| Gm8180 |
A |
G |
14: 44,019,802 (GRCm39) |
I40T |
probably benign |
Het |
| Iah1 |
T |
C |
12: 21,367,426 (GRCm39) |
V44A |
probably benign |
Het |
| Iqgap3 |
C |
T |
3: 88,020,435 (GRCm39) |
P360S |
probably damaging |
Het |
| Klhl28 |
T |
A |
12: 65,003,896 (GRCm39) |
I206F |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,012,332 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,726,914 (GRCm39) |
D41V |
probably benign |
Het |
| Lrig2 |
C |
G |
3: 104,398,842 (GRCm39) |
V229L |
possibly damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,147,727 (GRCm39) |
T169I |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,014,649 (GRCm39) |
N1053S |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgat4c |
G |
C |
10: 102,224,599 (GRCm39) |
R271P |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,735,360 (GRCm39) |
N780S |
possibly damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,676 (GRCm39) |
T421A |
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,295 (GRCm39) |
T222A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,992 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
A |
5: 120,876,599 (GRCm39) |
D448V |
probably damaging |
Het |
| Or10al7 |
C |
A |
17: 38,366,467 (GRCm39) |
V6F |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,383 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,772 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pgm2l1 |
T |
A |
7: 99,877,204 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pigp |
A |
T |
16: 94,166,309 (GRCm39) |
V133D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,156,881 (GRCm39) |
D752N |
possibly damaging |
Het |
| Ppat |
T |
C |
5: 77,074,640 (GRCm39) |
K65E |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,125,314 (GRCm39) |
L616P |
probably damaging |
Het |
| Rbm39 |
G |
A |
2: 156,019,266 (GRCm39) |
R31C |
possibly damaging |
Het |
| Rhbdf2 |
C |
A |
11: 116,492,771 (GRCm39) |
V417L |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,246,298 (GRCm39) |
E255D |
possibly damaging |
Het |
| Rpl6l |
A |
T |
10: 110,962,304 (GRCm39) |
|
noncoding transcript |
Het |
| Sec24c |
A |
G |
14: 20,743,813 (GRCm39) |
D1006G |
probably damaging |
Het |
| Sh3bp1 |
G |
T |
15: 78,792,237 (GRCm39) |
A401S |
probably benign |
Het |
| Slc17a8 |
A |
T |
10: 89,412,367 (GRCm39) |
D539E |
probably benign |
Het |
| Slc38a9 |
T |
A |
13: 112,826,098 (GRCm39) |
S136R |
probably damaging |
Het |
| Smoc2 |
A |
C |
17: 14,589,295 (GRCm39) |
T255P |
probably benign |
Het |
| Smyd2 |
T |
C |
1: 189,628,847 (GRCm39) |
D152G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,862,350 (GRCm39) |
V2328A |
probably damaging |
Het |
| Taar2 |
A |
G |
10: 23,816,591 (GRCm39) |
I44V |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,682,144 (GRCm39) |
K1251E |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,027 (GRCm39) |
L315F |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,259 (GRCm39) |
S19P |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,820,173 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,527 (GRCm39) |
I395M |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,548,728 (GRCm39) |
E31891G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,800,527 (GRCm39) |
V950A |
probably damaging |
Het |
| Usp9y |
T |
A |
Y: 1,307,920 (GRCm39) |
K2305N |
probably damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,490,179 (GRCm39) |
T10I |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r78 |
T |
A |
7: 86,603,916 (GRCm39) |
I698K |
possibly damaging |
Het |
| Vmn2r86 |
G |
T |
10: 130,289,460 (GRCm39) |
T145K |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,684,933 (GRCm39) |
V516A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,145 (GRCm39) |
S686T |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,502,111 (GRCm39) |
C55S |
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 |
|
|
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'- ACCCAGAGATGTTCAAAGGG -3'
(R):5'- ACTAGCCAGAGTGACAAAATTCTG -3'
Sequencing Primer
(F):5'- AGGGTGAGTTAAGAGCTCTTACC -3'
(R):5'- ATTCTGTAGACCAGTCAGGGTATAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation