Incidental Mutation 'IGL02058:Rad1'
ID |
185288 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rad1
|
Ensembl Gene |
ENSMUSG00000022248 |
Gene Name |
RAD1 checkpoint DNA exonuclease |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.942)
|
Stock # |
IGL02058
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 10493361 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 263
(Q263K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022856
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022856]
[ENSMUST00000100775]
[ENSMUST00000168408]
[ENSMUST00000169519]
[ENSMUST00000170100]
|
AlphaFold |
Q9QWZ1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022856
AA Change: Q263K
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000022856 Gene: ENSMUSG00000022248 AA Change: Q263K
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
257 |
2.2e-85 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000100775
|
SMART Domains |
Protein: ENSMUSP00000098338 Gene: ENSMUSG00000022248
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
235 |
5.5e-69 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168408
|
SMART Domains |
Protein: ENSMUSP00000132747 Gene: ENSMUSG00000022248
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
67 |
1.7e-17 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169519
|
SMART Domains |
Protein: ENSMUSP00000126645 Gene: ENSMUSG00000022248
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
16 |
133 |
9e-36 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170100
|
SMART Domains |
Protein: ENSMUSP00000128601 Gene: ENSMUSG00000022248
Domain | Start | End | E-Value | Type |
Pfam:Rad1
|
1 |
161 |
1.3e-51 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170531
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of a heterotrimeric cell cycle checkpoint complex, known as the 9-1-1 complex, that is activated to stop cell cycle progression in response to DNA damage or incomplete DNA replication. The 9-1-1 complex is recruited by RAD17 to affected sites where it may attract specialized DNA polymerases and other DNA repair effectors. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jan 2009] PHENOTYPE: Mice homozygous for a knock-in allele exhibit normal B cell DNA damage sensitivity, somatic hypermutation, and class switch recombination. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
C |
A |
2: 69,073,842 (GRCm39) |
A1228S |
probably damaging |
Het |
Adamts12 |
G |
A |
15: 11,215,696 (GRCm39) |
R239K |
probably benign |
Het |
Akap6 |
A |
G |
12: 53,187,338 (GRCm39) |
D1584G |
probably damaging |
Het |
Asns |
A |
G |
6: 7,685,184 (GRCm39) |
C158R |
probably damaging |
Het |
Atr |
T |
C |
9: 95,753,540 (GRCm39) |
L714P |
probably damaging |
Het |
Ccdc126 |
G |
T |
6: 49,311,134 (GRCm39) |
E47D |
probably benign |
Het |
Cemip |
T |
C |
7: 83,646,500 (GRCm39) |
S183G |
probably damaging |
Het |
Cntn3 |
A |
G |
6: 102,176,321 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
G |
T |
15: 74,725,038 (GRCm39) |
N270K |
probably benign |
Het |
Ephx2 |
A |
G |
14: 66,341,173 (GRCm39) |
|
probably null |
Het |
Fcho2 |
G |
A |
13: 98,867,414 (GRCm39) |
T683I |
probably damaging |
Het |
Grm7 |
G |
A |
6: 111,335,278 (GRCm39) |
C563Y |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,579,932 (GRCm39) |
N1935S |
probably benign |
Het |
Hus1b |
A |
G |
13: 31,130,900 (GRCm39) |
L253S |
probably benign |
Het |
Kmt5b |
T |
C |
19: 3,843,181 (GRCm39) |
Y93H |
probably damaging |
Het |
Krt73 |
A |
T |
15: 101,710,456 (GRCm39) |
S93T |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,727,306 (GRCm39) |
V917A |
probably benign |
Het |
Map2k6 |
C |
T |
11: 110,383,409 (GRCm39) |
T106M |
probably damaging |
Het |
Ncor1 |
A |
G |
11: 62,235,463 (GRCm39) |
S664P |
probably damaging |
Het |
Nmt1 |
C |
T |
11: 102,943,116 (GRCm39) |
T157I |
probably benign |
Het |
Nup160 |
T |
C |
2: 90,560,051 (GRCm39) |
S1259P |
probably damaging |
Het |
Pak1 |
C |
T |
7: 97,560,322 (GRCm39) |
A523V |
probably damaging |
Het |
Parpbp |
A |
C |
10: 87,979,898 (GRCm39) |
S19R |
probably benign |
Het |
Pdzd2 |
G |
T |
15: 12,376,382 (GRCm39) |
T1251N |
possibly damaging |
Het |
Phaf1 |
T |
A |
8: 105,966,341 (GRCm39) |
I105N |
probably damaging |
Het |
Pitpnm3 |
A |
T |
11: 72,010,965 (GRCm39) |
N22K |
probably benign |
Het |
Pkn1 |
G |
T |
8: 84,407,854 (GRCm39) |
C418* |
probably null |
Het |
Pkn2 |
A |
G |
3: 142,509,424 (GRCm39) |
F723L |
probably damaging |
Het |
Pkp4 |
C |
T |
2: 59,142,073 (GRCm39) |
R459* |
probably null |
Het |
Prex1 |
A |
C |
2: 166,427,103 (GRCm39) |
S871A |
probably benign |
Het |
Ptprz1 |
A |
G |
6: 23,002,502 (GRCm39) |
T1531A |
probably benign |
Het |
Sh2d6 |
C |
A |
6: 72,490,961 (GRCm39) |
G307* |
probably null |
Het |
Slc52a3 |
T |
A |
2: 151,847,811 (GRCm39) |
N306K |
probably damaging |
Het |
Spock3 |
A |
T |
8: 63,698,232 (GRCm39) |
R195* |
probably null |
Het |
Stil |
A |
G |
4: 114,871,359 (GRCm39) |
S310G |
probably benign |
Het |
Wbp1l |
T |
A |
19: 46,640,959 (GRCm39) |
C80* |
probably null |
Het |
Wnt2b |
A |
G |
3: 104,854,408 (GRCm39) |
V350A |
probably benign |
Het |
|
Other mutations in Rad1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00662:Rad1
|
APN |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01536:Rad1
|
APN |
15 |
10,493,286 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01544:Rad1
|
APN |
15 |
10,490,465 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02368:Rad1
|
APN |
15 |
10,493,337 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02793:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02875:Rad1
|
APN |
15 |
10,493,365 (GRCm39) |
missense |
probably benign |
0.00 |
R0271:Rad1
|
UTSW |
15 |
10,490,543 (GRCm39) |
splice site |
probably null |
|
R1874:Rad1
|
UTSW |
15 |
10,488,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R2154:Rad1
|
UTSW |
15 |
10,486,721 (GRCm39) |
missense |
possibly damaging |
0.77 |
R2318:Rad1
|
UTSW |
15 |
10,490,495 (GRCm39) |
missense |
probably benign |
0.06 |
R2369:Rad1
|
UTSW |
15 |
10,486,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R2875:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
R2876:Rad1
|
UTSW |
15 |
10,490,417 (GRCm39) |
missense |
probably benign |
0.09 |
R2915:Rad1
|
UTSW |
15 |
10,486,728 (GRCm39) |
missense |
probably damaging |
0.99 |
R3721:Rad1
|
UTSW |
15 |
10,488,112 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Rad1
|
UTSW |
15 |
10,493,212 (GRCm39) |
intron |
probably benign |
|
R4931:Rad1
|
UTSW |
15 |
10,492,848 (GRCm39) |
intron |
probably benign |
|
R5274:Rad1
|
UTSW |
15 |
10,488,059 (GRCm39) |
splice site |
probably null |
|
R5640:Rad1
|
UTSW |
15 |
10,496,009 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5885:Rad1
|
UTSW |
15 |
10,488,143 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Rad1
|
UTSW |
15 |
10,488,160 (GRCm39) |
missense |
probably damaging |
0.99 |
R6341:Rad1
|
UTSW |
15 |
10,492,907 (GRCm39) |
missense |
probably damaging |
0.99 |
R6420:Rad1
|
UTSW |
15 |
10,488,098 (GRCm39) |
missense |
probably benign |
0.00 |
R7068:Rad1
|
UTSW |
15 |
10,490,379 (GRCm39) |
nonsense |
probably null |
|
R7205:Rad1
|
UTSW |
15 |
10,493,343 (GRCm39) |
missense |
probably benign |
0.00 |
R7312:Rad1
|
UTSW |
15 |
10,493,367 (GRCm39) |
missense |
probably benign |
0.00 |
R7817:Rad1
|
UTSW |
15 |
10,493,404 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-05-07 |