Incidental Mutation 'IGL02368:Rad1'
| ID |
290802 |
| 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: 0.936)
|
| Stock # |
IGL02368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 10493337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 255
(Y255H)
|
| 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: Y255H
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000022856
Gene: ENSMUSG00000022248
AA Change: Y255H
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930546C10Rik |
A |
G |
18: 69,083,060 (GRCm39) |
|
probably benign |
Het |
| Abca17 |
C |
A |
17: 24,506,767 (GRCm39) |
V1196L |
probably benign |
Het |
| Aldh4a1 |
G |
A |
4: 139,375,511 (GRCm39) |
W540* |
probably null |
Het |
| Antxr2 |
G |
A |
5: 98,097,057 (GRCm39) |
P352L |
probably damaging |
Het |
| Atic |
C |
T |
1: 71,603,724 (GRCm39) |
|
probably benign |
Het |
| Cfhr1 |
A |
G |
1: 139,475,551 (GRCm39) |
|
probably benign |
Het |
| Clspn |
T |
C |
4: 126,459,900 (GRCm39) |
S207P |
probably benign |
Het |
| Depdc1b |
A |
C |
13: 108,500,113 (GRCm39) |
T209P |
probably benign |
Het |
| Exosc3 |
A |
G |
4: 45,319,671 (GRCm39) |
I117T |
probably damaging |
Het |
| Eya2 |
T |
A |
2: 165,605,638 (GRCm39) |
D347E |
probably damaging |
Het |
| Gm10748 |
G |
T |
3: 5,280,061 (GRCm39) |
|
probably benign |
Het |
| Gm17079 |
T |
C |
14: 51,930,524 (GRCm39) |
N107S |
possibly damaging |
Het |
| Gpr68 |
A |
G |
12: 100,845,026 (GRCm39) |
F173L |
probably damaging |
Het |
| Hgf |
G |
T |
5: 16,769,792 (GRCm39) |
V89F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,652 (GRCm39) |
S1510T |
probably benign |
Het |
| Il4 |
A |
T |
11: 53,503,463 (GRCm39) |
N22K |
probably damaging |
Het |
| Izumo2 |
T |
G |
7: 44,358,261 (GRCm39) |
L32R |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,261,855 (GRCm39) |
L359P |
probably damaging |
Het |
| Myo15b |
A |
G |
11: 115,767,828 (GRCm39) |
K1376R |
probably benign |
Het |
| Ncam1 |
G |
A |
9: 49,454,383 (GRCm39) |
R543* |
probably null |
Het |
| Pax2 |
A |
G |
19: 44,823,848 (GRCm39) |
N347S |
possibly damaging |
Het |
| Ppargc1a |
A |
G |
5: 51,631,498 (GRCm39) |
L377P |
probably benign |
Het |
| Pum3 |
A |
G |
19: 27,403,357 (GRCm39) |
V48A |
probably benign |
Het |
| Rimbp2 |
C |
T |
5: 128,865,218 (GRCm39) |
|
probably null |
Het |
| Rpn2 |
A |
G |
2: 157,144,328 (GRCm39) |
N330S |
probably benign |
Het |
| Rptn |
A |
G |
3: 93,304,478 (GRCm39) |
S604G |
probably benign |
Het |
| Rragc |
A |
G |
4: 123,814,904 (GRCm39) |
D200G |
probably benign |
Het |
| Slco4a1 |
T |
G |
2: 180,114,921 (GRCm39) |
F615V |
probably damaging |
Het |
| Snx2 |
T |
C |
18: 53,322,793 (GRCm39) |
S59P |
probably benign |
Het |
| Timp4 |
A |
T |
6: 115,223,360 (GRCm39) |
|
probably null |
Het |
| Tln2 |
A |
G |
9: 67,148,092 (GRCm39) |
|
probably benign |
Het |
| Txnrd1 |
C |
A |
10: 82,731,808 (GRCm39) |
|
probably null |
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 |
|
IGL02058:Rad1
|
APN |
15 |
10,493,361 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2015-04-16 |
Incidental Mutation