Incidental Mutation 'IGL02587:Rad54l'
| ID |
299579 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02587
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115962994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 335
(Y335H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102704]
[ENSMUST00000102705]
|
| AlphaFold |
P70270 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102704
AA Change: Y335H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: Y335H
| 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 damaging
Transcript: ENSMUST00000102705
AA Change: Y335H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: Y335H
| 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: ENSMUST00000152741
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
G |
A |
4: 144,429,969 (GRCm39) |
T340I |
possibly damaging |
Het |
| Acot10 |
A |
T |
15: 20,665,883 (GRCm39) |
V286E |
possibly damaging |
Het |
| Bpifa6 |
T |
C |
2: 153,831,130 (GRCm39) |
L232P |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,096,134 (GRCm39) |
N104S |
possibly damaging |
Het |
| Cdc42bpa |
A |
G |
1: 179,921,510 (GRCm39) |
E550G |
possibly damaging |
Het |
| Cfhr4 |
G |
A |
1: 139,629,668 (GRCm39) |
T712I |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,708,287 (GRCm39) |
N141K |
probably benign |
Het |
| Emilin2 |
A |
G |
17: 71,587,851 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,734,236 (GRCm39) |
E1168G |
possibly damaging |
Het |
| Fbxo48 |
T |
C |
11: 16,903,659 (GRCm39) |
I95T |
probably benign |
Het |
| Fpr3 |
A |
T |
17: 18,190,953 (GRCm39) |
T75S |
probably benign |
Het |
| Gm5145 |
A |
G |
17: 20,791,452 (GRCm39) |
K277E |
probably damaging |
Het |
| Gnao1 |
A |
G |
8: 94,677,067 (GRCm39) |
|
probably benign |
Het |
| Krt8 |
G |
A |
15: 101,907,367 (GRCm39) |
R239C |
probably benign |
Het |
| Lrrc17 |
A |
T |
5: 21,766,078 (GRCm39) |
N187Y |
probably damaging |
Het |
| Neil1 |
C |
T |
9: 57,052,263 (GRCm39) |
R195H |
probably damaging |
Het |
| Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
| Pi4ka |
C |
A |
16: 17,135,217 (GRCm39) |
G946W |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,284,852 (GRCm39) |
N159I |
possibly damaging |
Het |
| Rgsl1 |
C |
T |
1: 153,675,684 (GRCm39) |
R159H |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,634,750 (GRCm39) |
D357G |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Timeless |
A |
G |
10: 128,075,785 (GRCm39) |
M6V |
probably damaging |
Het |
| Vps16 |
T |
C |
2: 130,281,636 (GRCm39) |
|
probably null |
Het |
| Zfp955b |
C |
A |
17: 33,519,624 (GRCm39) |
Q31K |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation