Incidental Mutation 'R1179:Rad54l'
ID |
100214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rad54l
|
Ensembl Gene |
ENSMUSG00000028702 |
Gene Name |
RAD54 like (S. cerevisiae) |
Synonyms |
RAD54 |
MMRRC Submission |
039251-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1179 (G1)
|
Quality Score |
180 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 115968517 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 93
(L93Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099766
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102704]
[ENSMUST00000102705]
|
AlphaFold |
P70270 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000102704
AA Change: L93Q
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099765 Gene: ENSMUSG00000028702 AA Change: L93Q
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: L93Q
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099766 Gene: ENSMUSG00000028702 AA Change: L93Q
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: ENSMUST00000138320
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152741
|
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.5%
- 10x: 93.7%
- 20x: 84.3%
|
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
T |
A |
11: 7,117,054 (GRCm39) |
|
probably null |
Het |
Aknad1 |
T |
C |
3: 108,659,783 (GRCm39) |
S266P |
possibly damaging |
Het |
Gaa |
A |
T |
11: 119,171,954 (GRCm39) |
R686W |
probably damaging |
Het |
Gls2 |
A |
T |
10: 128,035,103 (GRCm39) |
T79S |
probably damaging |
Het |
Golga2 |
G |
T |
2: 32,193,707 (GRCm39) |
R511L |
possibly damaging |
Het |
Hrnr |
T |
C |
3: 93,239,850 (GRCm39) |
S3363P |
unknown |
Het |
Ift81 |
T |
C |
5: 122,740,773 (GRCm39) |
K187R |
probably benign |
Het |
Kcnj1 |
T |
A |
9: 32,308,062 (GRCm39) |
I162N |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mc5r |
C |
G |
18: 68,471,741 (GRCm39) |
|
probably null |
Het |
Naga |
T |
A |
15: 82,214,357 (GRCm39) |
N385Y |
probably benign |
Het |
Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nrip3 |
A |
G |
7: 109,362,762 (GRCm39) |
V163A |
probably damaging |
Het |
Or6c202 |
A |
C |
10: 128,995,927 (GRCm39) |
S309A |
probably benign |
Het |
Or8g55 |
T |
C |
9: 39,785,371 (GRCm39) |
S267P |
possibly damaging |
Het |
Pacsin3 |
A |
G |
2: 91,094,205 (GRCm39) |
E378G |
probably damaging |
Het |
Pnisr |
A |
G |
4: 21,865,937 (GRCm39) |
T309A |
possibly damaging |
Het |
Ralgps2 |
G |
T |
1: 156,729,369 (GRCm39) |
P50Q |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,786,165 (GRCm39) |
V594A |
probably damaging |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Tmem17 |
A |
T |
11: 22,468,454 (GRCm39) |
N131I |
probably damaging |
Het |
Trrap |
G |
A |
5: 144,714,749 (GRCm39) |
R107H |
possibly damaging |
Het |
Vmp1 |
T |
C |
11: 86,498,055 (GRCm39) |
T287A |
probably damaging |
Het |
Zfp423 |
T |
A |
8: 88,414,700 (GRCm39) |
H1185L |
probably damaging |
Het |
Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |