Incidental Mutation 'IGL00780:Rad9b'
| ID |
13733 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rad9b
|
| Ensembl Gene |
ENSMUSG00000038569 |
| Gene Name |
RAD9 checkpoint clamp component B |
| Synonyms |
A630082N15Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
122461286-122492296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122482310 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 142
(I142V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049009]
[ENSMUST00000117263]
|
| AlphaFold |
Q6WBX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049009
AA Change: I142V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: I142V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
14 |
271 |
1.8e-91 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000117263
AA Change: I86V
|
| SMART Domains |
Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
14 |
271 |
1.1e-93 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149600
AA Change: I29V
|
| SMART Domains |
Protein: ENSMUSP00000120843
Gene: ENSMUSG00000038569
AA Change: I29V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
1 |
85 |
4.3e-25 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, decreased forebrain and somite cell proliferation, and increased cellular sensitivity to gamma irradiation and mitomycin C. Mice heterozygous for a knock-out allele exhibit reduced embryonic, fetal, and early postnatal survival. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,423,168 (GRCm39) |
D440G |
probably null |
Het |
| Acvrl1 |
T |
A |
15: 101,035,248 (GRCm39) |
F258Y |
probably damaging |
Het |
| Ano1 |
A |
G |
7: 144,209,367 (GRCm39) |
S278P |
probably damaging |
Het |
| Aoc1l3 |
A |
G |
6: 48,964,673 (GRCm39) |
D227G |
probably damaging |
Het |
| AW146154 |
T |
C |
7: 41,129,883 (GRCm39) |
Y411C |
probably damaging |
Het |
| Blnk |
T |
A |
19: 40,922,890 (GRCm39) |
K412M |
probably benign |
Het |
| Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
| Dach1 |
A |
T |
14: 98,138,858 (GRCm39) |
N528K |
possibly damaging |
Het |
| Dag1 |
A |
T |
9: 108,086,818 (GRCm39) |
W108R |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,472,367 (GRCm39) |
T355A |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,229,060 (GRCm39) |
T717A |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,342,898 (GRCm39) |
D394G |
possibly damaging |
Het |
| Gaa |
T |
A |
11: 119,165,117 (GRCm39) |
|
probably null |
Het |
| Gpr158 |
A |
T |
2: 21,831,629 (GRCm39) |
K910* |
probably null |
Het |
| Grb14 |
G |
A |
2: 64,745,062 (GRCm39) |
P99S |
probably damaging |
Het |
| Gtf2h2 |
T |
C |
13: 100,615,729 (GRCm39) |
D264G |
probably benign |
Het |
| Heatr3 |
A |
G |
8: 88,897,568 (GRCm39) |
I667V |
probably benign |
Het |
| Hsp90ab1 |
T |
C |
17: 45,880,490 (GRCm39) |
N407S |
probably damaging |
Het |
| Htr2a |
A |
T |
14: 74,943,645 (GRCm39) |
L408F |
possibly damaging |
Het |
| Itgb5 |
G |
A |
16: 33,705,345 (GRCm39) |
V212I |
probably damaging |
Het |
| Kmt2c |
G |
A |
5: 25,516,049 (GRCm39) |
T2598I |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,904,637 (GRCm39) |
N137S |
probably damaging |
Het |
| Lef1 |
T |
C |
3: 130,986,779 (GRCm39) |
F212L |
possibly damaging |
Het |
| Map2k5 |
T |
C |
9: 63,188,359 (GRCm39) |
|
probably benign |
Het |
| Med15 |
G |
A |
16: 17,471,351 (GRCm39) |
T642I |
probably damaging |
Het |
| Nasp |
C |
A |
4: 116,461,196 (GRCm39) |
E274* |
probably null |
Het |
| Nup210l |
A |
T |
3: 90,098,156 (GRCm39) |
|
probably benign |
Het |
| Pgghg |
T |
C |
7: 140,525,264 (GRCm39) |
|
probably null |
Het |
| Plpp1 |
A |
G |
13: 112,988,040 (GRCm39) |
I54M |
probably damaging |
Het |
| Poldip3 |
C |
T |
15: 83,022,680 (GRCm39) |
G35R |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,563,268 (GRCm39) |
E81D |
possibly damaging |
Het |
| Ptpn21 |
G |
T |
12: 98,646,630 (GRCm39) |
T999K |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,163,639 (GRCm39) |
H139Q |
probably damaging |
Het |
| Rdh16f2 |
T |
C |
10: 127,710,961 (GRCm39) |
|
probably null |
Het |
| Sema3d |
G |
A |
5: 12,574,293 (GRCm39) |
R265Q |
probably damaging |
Het |
| Tdp1 |
T |
C |
12: 99,859,907 (GRCm39) |
V198A |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,909 (GRCm39) |
D145V |
probably benign |
Het |
| Trpc4 |
C |
T |
3: 54,209,596 (GRCm39) |
P654S |
probably damaging |
Het |
| Yy1 |
T |
G |
12: 108,781,463 (GRCm39) |
I376S |
probably damaging |
Het |
| Zfp773 |
T |
A |
7: 7,136,113 (GRCm39) |
Q161L |
probably benign |
Het |
|
| Other mutations in Rad9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02375:Rad9b
|
APN |
5 |
122,471,405 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0027:Rad9b
|
UTSW |
5 |
122,489,786 (GRCm39) |
unclassified |
probably benign |
|
|
R0027:Rad9b
|
UTSW |
5 |
122,489,786 (GRCm39) |
unclassified |
probably benign |
|
|
R0103:Rad9b
|
UTSW |
5 |
122,469,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0103:Rad9b
|
UTSW |
5 |
122,469,590 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0975:Rad9b
|
UTSW |
5 |
122,472,320 (GRCm39) |
splice site |
probably null |
|
|
R2006:Rad9b
|
UTSW |
5 |
122,477,842 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2265:Rad9b
|
UTSW |
5 |
122,489,405 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4818:Rad9b
|
UTSW |
5 |
122,477,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5392:Rad9b
|
UTSW |
5 |
122,489,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6041:Rad9b
|
UTSW |
5 |
122,489,415 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6109:Rad9b
|
UTSW |
5 |
122,482,360 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6133:Rad9b
|
UTSW |
5 |
122,477,831 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6566:Rad9b
|
UTSW |
5 |
122,490,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6695:Rad9b
|
UTSW |
5 |
122,489,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Rad9b
|
UTSW |
5 |
122,472,341 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7299:Rad9b
|
UTSW |
5 |
122,490,677 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7301:Rad9b
|
UTSW |
5 |
122,490,677 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8495:Rad9b
|
UTSW |
5 |
122,471,096 (GRCm39) |
splice site |
probably null |
|
|
R8954:Rad9b
|
UTSW |
5 |
122,482,293 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1088:Rad9b
|
UTSW |
5 |
122,471,435 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2012-12-06 |
Incidental Mutation