Incidental Mutation 'IGL02793:Rad1'
ID |
359834 |
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 # |
IGL02793
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
10486104-10499149 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 10493365 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 264
(I264T)
|
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: I264T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000022856 Gene: ENSMUSG00000022248 AA Change: I264T
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,122,293 (GRCm39) |
I397V |
possibly damaging |
Het |
Bco2 |
A |
T |
9: 50,455,834 (GRCm39) |
V173E |
probably damaging |
Het |
Bdnf |
T |
C |
2: 109,554,196 (GRCm39) |
V150A |
probably damaging |
Het |
Cdh15 |
T |
A |
8: 123,587,721 (GRCm39) |
V215E |
probably damaging |
Het |
Col6a2 |
A |
T |
10: 76,432,144 (GRCm39) |
I1003N |
possibly damaging |
Het |
Daam2 |
A |
C |
17: 49,771,056 (GRCm39) |
I887S |
probably damaging |
Het |
Dnajb13 |
C |
T |
7: 100,156,648 (GRCm39) |
D143N |
probably damaging |
Het |
Fabp3-ps1 |
T |
A |
10: 86,567,943 (GRCm39) |
|
probably benign |
Het |
Gid4 |
G |
A |
11: 60,323,256 (GRCm39) |
R116Q |
probably benign |
Het |
Hectd2 |
A |
G |
19: 36,564,821 (GRCm39) |
E34G |
probably damaging |
Het |
Hyal6 |
A |
T |
6: 24,734,378 (GRCm39) |
K104* |
probably null |
Het |
Il1b |
A |
G |
2: 129,209,171 (GRCm39) |
I153T |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,962,072 (GRCm39) |
M1499V |
probably damaging |
Het |
Kntc1 |
C |
A |
5: 123,916,340 (GRCm39) |
|
probably null |
Het |
Lmbr1 |
A |
G |
5: 29,497,186 (GRCm39) |
S72P |
probably damaging |
Het |
Lrrc2 |
T |
C |
9: 110,808,695 (GRCm39) |
|
probably null |
Het |
Map2k5 |
T |
C |
9: 63,164,321 (GRCm39) |
I328V |
probably benign |
Het |
Mphosph9 |
T |
A |
5: 124,421,800 (GRCm39) |
|
probably null |
Het |
Mpp4 |
C |
T |
1: 59,175,993 (GRCm39) |
|
probably null |
Het |
Ndrg3 |
A |
G |
2: 156,791,952 (GRCm39) |
|
probably null |
Het |
Ndufa10 |
A |
C |
1: 92,397,639 (GRCm39) |
Y136D |
probably damaging |
Het |
Or10ak9 |
A |
T |
4: 118,726,794 (GRCm39) |
D271V |
probably damaging |
Het |
Or2b7 |
T |
A |
13: 21,740,172 (GRCm39) |
S7C |
probably damaging |
Het |
Or4a72 |
T |
C |
2: 89,405,896 (GRCm39) |
Y58C |
probably damaging |
Het |
Or8g34 |
A |
G |
9: 39,372,802 (GRCm39) |
E22G |
probably benign |
Het |
Rab18 |
T |
C |
18: 6,788,474 (GRCm39) |
|
probably benign |
Het |
Rhbdf1 |
A |
G |
11: 32,163,293 (GRCm39) |
V393A |
possibly damaging |
Het |
Rrp12 |
A |
G |
19: 41,860,005 (GRCm39) |
L1025P |
probably damaging |
Het |
Rtca |
A |
G |
3: 116,286,726 (GRCm39) |
F302S |
probably damaging |
Het |
Slc9b1 |
T |
A |
3: 135,080,167 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
T |
6: 48,464,828 (GRCm39) |
|
probably benign |
Het |
Ssrp1 |
T |
A |
2: 84,871,264 (GRCm39) |
I257N |
probably damaging |
Het |
Sval2 |
A |
C |
6: 41,838,795 (GRCm39) |
Y11S |
probably benign |
Het |
Tcl1b2 |
T |
C |
12: 105,120,358 (GRCm39) |
*118Q |
probably null |
Het |
Thsd7b |
A |
G |
1: 129,879,130 (GRCm39) |
Y989C |
probably damaging |
Het |
Tlr4 |
A |
C |
4: 66,757,681 (GRCm39) |
H158P |
probably damaging |
Het |
Vmn2r42 |
T |
C |
7: 8,197,852 (GRCm39) |
T256A |
probably benign |
Het |
Xdh |
T |
C |
17: 74,207,576 (GRCm39) |
E927G |
probably damaging |
Het |
Yap1 |
T |
C |
9: 7,973,907 (GRCm39) |
N178S |
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 |
IGL02058:Rad1
|
APN |
15 |
10,493,361 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02368:Rad1
|
APN |
15 |
10,493,337 (GRCm39) |
missense |
probably benign |
0.19 |
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 |
2015-12-18 |