Incidental Mutation 'R8707:Rad54l'
| ID |
669297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l
|
| Ensembl Gene |
ENSMUSG00000028702 |
| Gene Name |
RAD54 like (S. cerevisiae) |
| Synonyms |
RAD54 |
| MMRRC Submission |
068561-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8707 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115954533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 690
(V690A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099765
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030471]
[ENSMUST00000102704]
[ENSMUST00000102705]
|
| AlphaFold |
P70270 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030471
|
| SMART Domains |
Protein: ENSMUSP00000030471
Gene: ENSMUSG00000028703
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
382 |
N/A |
INTRINSIC |
|
low complexity region
|
417 |
429 |
N/A |
INTRINSIC |
|
SCOP:d1yrga_
|
449 |
742 |
4e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102704
AA Change: V690A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: V690A
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
149 |
357 |
1.66e-41 |
SMART |
|
Blast:DEXDc
|
391 |
427 |
5e-13 |
BLAST |
|
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
|
HELICc
|
527 |
611 |
1.39e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102705
AA Change: V690A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: V690A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad54_N
|
10 |
138 |
7.8e-9 |
PFAM |
|
DEXDc
|
149 |
357 |
1.66e-41 |
SMART |
|
Blast:DEXDc
|
391 |
427 |
5e-13 |
BLAST |
|
low complexity region
|
441 |
456 |
N/A |
INTRINSIC |
|
HELICc
|
527 |
611 |
1.39e-20 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (35/35) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily, and shares similarity with Saccharomyces cerevisiae Rad54, a protein known to be involved in the homologous recombination and repair of DNA. This protein has been shown to play a role in homologous recombination related repair of DNA double-strand breaks. The binding of this protein to double-strand DNA induces a DNA topological change, which is thought to facilitate homologous DNA paring, and stimulate DNA recombination. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are sensitive to DNA crosslinking agents and to ionizing radiation and show abnormal definitive hematopoiesis following X-ray treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb18 |
A |
G |
1: 89,920,857 (GRCm39) |
L140P |
probably damaging |
Het |
| Ccdc8 |
C |
T |
7: 16,729,975 (GRCm39) |
A488V |
unknown |
Het |
| Cfap57 |
C |
A |
4: 118,450,203 (GRCm39) |
V640F |
probably benign |
Het |
| Cx3cl1 |
A |
T |
8: 95,506,375 (GRCm39) |
T127S |
probably benign |
Het |
| Dars2 |
A |
G |
1: 160,884,081 (GRCm39) |
C263R |
probably damaging |
Het |
| Dnajc13 |
T |
C |
9: 104,069,847 (GRCm39) |
M1135V |
probably damaging |
Het |
| Echdc2 |
G |
A |
4: 108,031,028 (GRCm39) |
R169Q |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,819,920 (GRCm39) |
A2549V |
probably benign |
Het |
| Fermt1 |
G |
A |
2: 132,766,881 (GRCm39) |
T362I |
probably benign |
Het |
| Fev |
A |
G |
1: 74,924,316 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,073,070 (GRCm39) |
D404V |
probably damaging |
Het |
| Idh2 |
GGTCCCAG |
GG |
7: 79,748,077 (GRCm39) |
|
probably benign |
Het |
| Igfals |
C |
A |
17: 25,099,185 (GRCm39) |
A92E |
possibly damaging |
Het |
| Inppl1 |
G |
A |
7: 101,478,903 (GRCm39) |
A33V |
|
Het |
| Kcnc4 |
A |
G |
3: 107,355,449 (GRCm39) |
V333A |
possibly damaging |
Het |
| Lgr5 |
A |
G |
10: 115,288,610 (GRCm39) |
L678P |
probably benign |
Het |
| Lmntd2 |
G |
A |
7: 140,791,234 (GRCm39) |
R393* |
probably null |
Het |
| Lrrc14 |
T |
A |
15: 76,597,416 (GRCm39) |
C109S |
probably benign |
Het |
| Ms4a12 |
A |
G |
19: 11,192,736 (GRCm39) |
V200A |
possibly damaging |
Het |
| Mtnr1b |
C |
A |
9: 15,785,809 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
G |
A |
16: 48,973,450 (GRCm39) |
C1240Y |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,552,875 (GRCm39) |
Y199C |
probably damaging |
Het |
| Pars2 |
T |
C |
4: 106,510,359 (GRCm39) |
L47P |
probably damaging |
Het |
| Pik3ap1 |
G |
A |
19: 41,313,039 (GRCm39) |
T358I |
probably damaging |
Het |
| Pop1 |
C |
T |
15: 34,529,349 (GRCm39) |
T823I |
probably benign |
Het |
| Setdb2 |
G |
A |
14: 59,660,907 (GRCm39) |
Q79* |
probably null |
Het |
| Svep1 |
C |
A |
4: 58,070,197 (GRCm39) |
E2530* |
probably null |
Het |
| Synj1 |
T |
C |
16: 90,752,319 (GRCm39) |
D1012G |
probably benign |
Het |
| Thbs2 |
C |
T |
17: 14,911,645 (GRCm39) |
G11D |
probably damaging |
Het |
| Tmem177 |
G |
A |
1: 119,838,070 (GRCm39) |
A203V |
probably benign |
Het |
| Trappc3l |
A |
G |
10: 33,978,727 (GRCm39) |
Y177C |
unknown |
Het |
| Ube2d1 |
T |
C |
10: 71,092,478 (GRCm39) |
D122G |
probably benign |
Het |
| Vwa5b2 |
A |
G |
16: 20,412,965 (GRCm39) |
T116A |
probably benign |
Het |
| Wasf2 |
T |
A |
4: 132,917,540 (GRCm39) |
V213E |
unknown |
Het |
|
| Other mutations in Rad54l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01409:Rad54l
|
APN |
4 |
115,963,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01569:Rad54l
|
APN |
4 |
115,956,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02120:Rad54l
|
APN |
4 |
115,956,181 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02587:Rad54l
|
APN |
4 |
115,962,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02728:Rad54l
|
APN |
4 |
115,980,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03114:Rad54l
|
APN |
4 |
115,955,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Rad54l
|
UTSW |
4 |
115,956,947 (GRCm39) |
splice site |
probably benign |
|
|
R1179:Rad54l
|
UTSW |
4 |
115,968,517 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1956:Rad54l
|
UTSW |
4 |
115,967,554 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2875:Rad54l
|
UTSW |
4 |
115,959,050 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2936:Rad54l
|
UTSW |
4 |
115,980,076 (GRCm39) |
intron |
probably benign |
|
|
R4237:Rad54l
|
UTSW |
4 |
115,956,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4344:Rad54l
|
UTSW |
4 |
115,954,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Rad54l
|
UTSW |
4 |
115,980,121 (GRCm39) |
missense |
probably null |
0.12 |
|
R4802:Rad54l
|
UTSW |
4 |
115,980,121 (GRCm39) |
missense |
probably null |
0.12 |
|
R5106:Rad54l
|
UTSW |
4 |
115,956,961 (GRCm39) |
intron |
probably benign |
|
|
R5644:Rad54l
|
UTSW |
4 |
115,956,144 (GRCm39) |
missense |
probably benign |
|
|
R5684:Rad54l
|
UTSW |
4 |
115,957,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Rad54l
|
UTSW |
4 |
115,956,243 (GRCm39) |
intron |
probably benign |
|
|
R5963:Rad54l
|
UTSW |
4 |
115,967,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Rad54l
|
UTSW |
4 |
115,954,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Rad54l
|
UTSW |
4 |
115,954,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6369:Rad54l
|
UTSW |
4 |
115,968,386 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6863:Rad54l
|
UTSW |
4 |
115,956,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Rad54l
|
UTSW |
4 |
115,963,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7318:Rad54l
|
UTSW |
4 |
115,967,906 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7767:Rad54l
|
UTSW |
4 |
115,956,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9156:Rad54l
|
UTSW |
4 |
115,980,349 (GRCm39) |
splice site |
probably benign |
|
|
R9207:Rad54l
|
UTSW |
4 |
115,967,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9274:Rad54l
|
UTSW |
4 |
115,967,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTATCAGTGAAGACCGCGCTG -3'
(R):5'- AGATCTTTCAGCGGCAGAGC -3'
Sequencing Primer
(F):5'- TGCTCCTCATGAGAACGCTG -3'
(R):5'- CACTTTTCTCTTGGTGAGCTTAAAG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation