Incidental Mutation 'R5883:Rad54l'
| ID |
454512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad54l
|
| Ensembl Gene |
ENSMUSG00000028702 |
| Gene Name |
RAD54 like (S. cerevisiae) |
| Synonyms |
RAD54 |
| MMRRC Submission |
044086-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5883 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to G
at 115956243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099766
(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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000139147
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 95.9%
- 20x: 83.7%
|
| Validation Efficiency |
100% (70/70) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6430548M08Rik |
G |
A |
8: 120,872,380 (GRCm39) |
V103I |
possibly damaging |
Het |
| Aass |
G |
A |
6: 23,072,993 (GRCm39) |
T920I |
probably benign |
Het |
| Akirin2 |
A |
G |
4: 34,565,256 (GRCm39) |
I168V |
possibly damaging |
Het |
| Ambn |
T |
A |
5: 88,615,688 (GRCm39) |
Y372* |
probably null |
Het |
| Ano3 |
T |
A |
2: 110,711,209 (GRCm39) |
E85V |
probably null |
Het |
| Bmf |
C |
T |
2: 118,377,447 (GRCm39) |
|
silent |
Het |
| Bmper |
T |
A |
9: 23,317,970 (GRCm39) |
S530T |
probably benign |
Het |
| Bop1 |
T |
C |
15: 76,339,049 (GRCm39) |
D383G |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,440,363 (GRCm39) |
Y156N |
probably damaging |
Het |
| Cacna1h |
A |
G |
17: 25,595,896 (GRCm39) |
V1987A |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,700,405 (GRCm39) |
V174A |
possibly damaging |
Het |
| Cep290 |
T |
A |
10: 100,359,261 (GRCm39) |
L997Q |
probably benign |
Het |
| Chil4 |
C |
T |
3: 106,117,886 (GRCm39) |
R128H |
possibly damaging |
Het |
| Cpne3 |
A |
T |
4: 19,552,314 (GRCm39) |
V106D |
possibly damaging |
Het |
| D6Wsu163e |
A |
G |
6: 126,943,879 (GRCm39) |
E425G |
probably damaging |
Het |
| Dlgap1 |
A |
T |
17: 70,824,008 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,369,711 (GRCm39) |
H4379N |
probably damaging |
Het |
| Gm10309 |
A |
G |
17: 86,806,185 (GRCm39) |
|
probably benign |
Het |
| Gm6264 |
G |
A |
1: 85,148,903 (GRCm39) |
|
probably benign |
Het |
| Has2 |
T |
A |
15: 56,531,459 (GRCm39) |
I419F |
possibly damaging |
Het |
| Hscb |
A |
G |
5: 110,987,444 (GRCm39) |
C51R |
probably benign |
Het |
| Ighv1-61 |
T |
C |
12: 115,323,183 (GRCm39) |
S4G |
probably benign |
Het |
| Islr2 |
G |
T |
9: 58,105,998 (GRCm39) |
Q465K |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,715,059 (GRCm39) |
I156V |
possibly damaging |
Het |
| Klk1b24 |
A |
G |
7: 43,839,787 (GRCm39) |
I49V |
probably benign |
Het |
| Krt90 |
C |
T |
15: 101,461,654 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
C |
T |
11: 57,933,125 (GRCm39) |
S243F |
probably damaging |
Het |
| Lrp4 |
T |
C |
2: 91,318,778 (GRCm39) |
Y872H |
probably benign |
Het |
| Maip1 |
T |
C |
1: 57,446,260 (GRCm39) |
M110T |
probably damaging |
Het |
| Marchf7 |
G |
A |
2: 60,064,786 (GRCm39) |
R354Q |
probably damaging |
Het |
| Med12l |
G |
T |
3: 58,998,889 (GRCm39) |
E605D |
probably damaging |
Het |
| Nt5c1a |
T |
A |
4: 123,110,049 (GRCm39) |
|
probably null |
Het |
| Or2j6 |
T |
A |
7: 139,980,101 (GRCm39) |
Y286F |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,182,078 (GRCm39) |
C168S |
probably damaging |
Het |
| Or5p66 |
C |
T |
7: 107,885,451 (GRCm39) |
S294N |
probably damaging |
Het |
| Pdzd9 |
T |
A |
7: 120,267,776 (GRCm39) |
E13V |
possibly damaging |
Het |
| Ppip5k2 |
C |
T |
1: 97,635,535 (GRCm39) |
A1100T |
possibly damaging |
Het |
| Prkdc |
C |
A |
16: 15,533,778 (GRCm39) |
Q1539K |
probably benign |
Het |
| Ric1 |
T |
A |
19: 29,573,389 (GRCm39) |
I943N |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 51,995,651 (GRCm39) |
|
probably null |
Het |
| Rpl12 |
T |
C |
2: 32,852,536 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,860,637 (GRCm39) |
|
probably benign |
Het |
| Scarb1 |
C |
A |
5: 125,417,971 (GRCm39) |
|
probably benign |
Het |
| Sox10 |
T |
C |
15: 79,040,463 (GRCm39) |
E359G |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,056,228 (GRCm39) |
T9A |
unknown |
Het |
| Tmem128 |
C |
T |
5: 38,423,885 (GRCm39) |
A33V |
possibly damaging |
Het |
| Tox |
A |
C |
4: 6,697,444 (GRCm39) |
V453G |
probably benign |
Het |
| Ubxn4 |
T |
A |
1: 128,183,867 (GRCm39) |
C76S |
probably damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,743,786 (GRCm39) |
Y483F |
probably benign |
Het |
| Xkr5 |
A |
G |
8: 18,990,806 (GRCm39) |
S154P |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
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 |
|
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 |
|
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 |
PCR Primer
(F):5'- ACACTGAGGACCACAGGTTG -3'
(R):5'- TCAAGGTGTGGCTATATGAGGAC -3'
Sequencing Primer
(F):5'- AGTCAGTTCCTAAGCCAGATTC -3'
(R):5'- GGCTATATGAGGACTTTCTCTTACC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation