Incidental Mutation 'IGL02120:Rad54l'
| ID |
280560 |
| 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 # |
IGL02120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
115951461-115980887 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 115956181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 549
(I549V)
|
| 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
AA Change: I549V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099765
Gene: ENSMUSG00000028702
AA Change: I549V
| 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: I549V
PolyPhen 2
Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000099766
Gene: ENSMUSG00000028702
AA Change: I549V
| 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 |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,087,654 (GRCm39) |
Y1037C |
probably damaging |
Het |
| Aldh16a1 |
G |
A |
7: 44,795,459 (GRCm39) |
P400L |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,367,202 (GRCm39) |
T113A |
possibly damaging |
Het |
| Aox3 |
T |
A |
1: 58,166,809 (GRCm39) |
N177K |
probably benign |
Het |
| Arhgap29 |
T |
A |
3: 121,797,906 (GRCm39) |
V532E |
probably benign |
Het |
| Brd8 |
C |
T |
18: 34,735,780 (GRCm39) |
S899N |
probably damaging |
Het |
| Caskin1 |
G |
T |
17: 24,719,916 (GRCm39) |
G401V |
probably damaging |
Het |
| Cemip |
A |
T |
7: 83,600,771 (GRCm39) |
M950K |
probably damaging |
Het |
| Cfap107 |
C |
T |
4: 144,144,981 (GRCm39) |
R195H |
probably benign |
Het |
| Chrd |
T |
C |
16: 20,553,291 (GRCm39) |
V211A |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,542 (GRCm39) |
N212S |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,785,946 (GRCm39) |
D246G |
probably damaging |
Het |
| Dlst |
T |
C |
12: 85,165,342 (GRCm39) |
S82P |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,027,245 (GRCm39) |
L2118M |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,534,876 (GRCm39) |
K2795E |
possibly damaging |
Het |
| Enpp5 |
T |
A |
17: 44,391,736 (GRCm39) |
M55K |
probably benign |
Het |
| Epdr1 |
A |
T |
13: 19,778,641 (GRCm39) |
S50T |
probably damaging |
Het |
| Gm7808 |
T |
A |
9: 19,839,313 (GRCm39) |
|
probably benign |
Het |
| Huwe1 |
T |
A |
X: 150,690,386 (GRCm39) |
F2485I |
possibly damaging |
Het |
| Kcnb2 |
C |
T |
1: 15,780,085 (GRCm39) |
T319M |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,023,784 (GRCm39) |
V60M |
probably damaging |
Het |
| Lingo3 |
A |
T |
10: 80,671,693 (GRCm39) |
L79Q |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,433,451 (GRCm39) |
|
probably null |
Het |
| Mob2 |
C |
A |
7: 141,564,035 (GRCm39) |
V33L |
possibly damaging |
Het |
| Mus81 |
G |
A |
19: 5,535,661 (GRCm39) |
|
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,044,169 (GRCm39) |
G490D |
probably damaging |
Het |
| Or13n4 |
A |
C |
7: 106,422,905 (GRCm39) |
V276G |
possibly damaging |
Het |
| Pbp2 |
A |
G |
6: 135,286,816 (GRCm39) |
V177A |
probably damaging |
Het |
| Pomt2 |
T |
C |
12: 87,158,326 (GRCm39) |
D656G |
probably benign |
Het |
| Ppp2r1b |
A |
G |
9: 50,773,069 (GRCm39) |
|
probably benign |
Het |
| Prp2rt |
G |
T |
13: 97,235,285 (GRCm39) |
|
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,503,333 (GRCm39) |
E775G |
probably damaging |
Het |
| Ranbp10 |
T |
C |
8: 106,532,214 (GRCm39) |
Y145C |
probably damaging |
Het |
| Runx1t1 |
A |
T |
4: 13,846,884 (GRCm39) |
T223S |
probably benign |
Het |
| Stxbp6 |
G |
T |
12: 44,948,831 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,993,480 (GRCm39) |
D2085G |
probably damaging |
Het |
| Szt2 |
C |
T |
4: 118,245,761 (GRCm39) |
R1064Q |
probably benign |
Het |
| Taar3 |
A |
G |
10: 23,826,065 (GRCm39) |
T204A |
probably benign |
Het |
| Tdpoz1 |
A |
G |
3: 93,577,750 (GRCm39) |
S345P |
probably damaging |
Het |
| Tgm4 |
T |
A |
9: 122,875,594 (GRCm39) |
I149N |
probably damaging |
Het |
| Tubal3 |
T |
A |
13: 3,980,675 (GRCm39) |
I129N |
probably damaging |
Het |
| Vegfc |
T |
C |
8: 54,634,436 (GRCm39) |
F372L |
possibly damaging |
Het |
| Vmn2r9 |
G |
A |
5: 108,991,502 (GRCm39) |
L620F |
probably damaging |
Het |
| Vwf |
C |
A |
6: 125,592,997 (GRCm39) |
L786M |
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 |
|
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 |
|
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