Incidental Mutation 'R2936:Rad54l'
| ID |
256308 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l
|
| Ensembl Gene |
ENSMUSG00000028702 |
| Gene Name |
RAD54 like (S. cerevisiae) |
| Synonyms |
RAD54 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2936 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 115980076 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102704]
[ENSMUST00000102704]
[ENSMUST00000102705]
[ENSMUST00000102705]
|
| AlphaFold |
P70270 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102704
|
| SMART Domains |
Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
| 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: ENSMUST00000102704
|
| SMART Domains |
Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
| 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
|
| SMART Domains |
Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102705
|
| SMART Domains |
Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143089
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144311
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152741
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
A |
T |
18: 70,601,519 (GRCm39) |
M121K |
probably damaging |
Het |
| Cacybp |
A |
T |
1: 160,035,947 (GRCm39) |
|
probably null |
Het |
| Cd6 |
T |
C |
19: 10,773,686 (GRCm39) |
|
probably null |
Het |
| Cep162 |
T |
C |
9: 87,109,467 (GRCm39) |
T379A |
probably benign |
Het |
| Gaa |
T |
C |
11: 119,174,550 (GRCm39) |
V799A |
probably benign |
Het |
| Gm16503 |
A |
G |
4: 147,625,704 (GRCm39) |
D66G |
unknown |
Het |
| Hspa9 |
T |
C |
18: 35,081,067 (GRCm39) |
T205A |
probably damaging |
Het |
| Ihh |
A |
G |
1: 74,985,705 (GRCm39) |
I260T |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,675,153 (GRCm39) |
Y972N |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Mmp12 |
A |
G |
9: 7,357,819 (GRCm39) |
Q341R |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,172,533 (GRCm39) |
S840P |
possibly damaging |
Het |
| Or4l15 |
A |
T |
14: 50,197,611 (GRCm39) |
V306E |
probably benign |
Het |
| Pde4b |
C |
T |
4: 102,458,742 (GRCm39) |
A466V |
probably damaging |
Het |
| Pde5a |
A |
G |
3: 122,587,968 (GRCm39) |
E378G |
probably damaging |
Het |
| Stbd1 |
C |
T |
5: 92,751,119 (GRCm39) |
P51L |
possibly damaging |
Het |
| Tent4a |
G |
A |
13: 69,650,446 (GRCm39) |
T621I |
possibly damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,887,357 (GRCm39) |
F56S |
probably damaging |
Het |
| Tnr |
A |
C |
1: 159,715,932 (GRCm39) |
Y898S |
probably damaging |
Het |
| Trav6n-6 |
A |
G |
14: 53,370,341 (GRCm39) |
T31A |
probably benign |
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 |
|
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 |
|
R8707:Rad54l
|
UTSW |
4 |
115,954,533 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2014-12-31 |
Incidental Mutation