Incidental Mutation 'R4468:Rad9a'
| ID |
329297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad9a
|
| Ensembl Gene |
ENSMUSG00000024824 |
| Gene Name |
RAD9 checkpoint clamp component A |
| Synonyms |
Rad9 |
| MMRRC Submission |
041725-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4468 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
4245195-4251661 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4250293 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 143
(H143Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025740
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025740]
[ENSMUST00000046094]
|
| AlphaFold |
Q9Z0F6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025740
AA Change: H143Y
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000025740
Gene: ENSMUSG00000024824
AA Change: H143Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
13 |
265 |
6.6e-101 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046094
|
| SMART Domains |
Protein: ENSMUSP00000039109
Gene: ENSMUSG00000040385
| Domain | Start | End | E-Value | Type |
|---|
|
PP2Ac
|
30 |
300 |
1.4e-164 |
SMART |
|
| Meta Mutation Damage Score |
0.2713 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a knock-out allele are consistently smaller and display abnormal embryonic development and midgestational lethality associated with increased apoptosis and reduced cellular proliferation. Mutant mouse embryonic fibroblasts are not viable. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
A |
T |
11: 116,487,781 (GRCm39) |
D160V |
possibly damaging |
Het |
| Abca2 |
A |
G |
2: 25,334,914 (GRCm39) |
Y1962C |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,522,375 (GRCm39) |
M5921L |
probably benign |
Het |
| Bmp2 |
T |
C |
2: 133,396,374 (GRCm39) |
V10A |
probably benign |
Het |
| Ccdc33 |
A |
G |
9: 57,937,235 (GRCm39) |
S655P |
possibly damaging |
Het |
| Ccdc33 |
G |
T |
9: 57,977,155 (GRCm39) |
T282K |
possibly damaging |
Het |
| Chd1 |
T |
C |
17: 15,980,657 (GRCm39) |
I1308T |
probably damaging |
Het |
| Clec4f |
A |
G |
6: 83,629,415 (GRCm39) |
I381T |
probably damaging |
Het |
| Ifit1bl2 |
G |
A |
19: 34,596,468 (GRCm39) |
Q383* |
probably null |
Het |
| Igkv6-15 |
A |
G |
6: 70,383,957 (GRCm39) |
V7A |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lancl2 |
T |
A |
6: 57,690,019 (GRCm39) |
L75H |
probably damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,075,207 (GRCm39) |
|
probably benign |
Het |
| Or12d14-ps1 |
A |
G |
17: 37,673,528 (GRCm39) |
I170M |
possibly damaging |
Het |
| Or13c7 |
G |
A |
4: 43,854,737 (GRCm39) |
V143M |
probably benign |
Het |
| Or7g29 |
C |
T |
9: 19,286,944 (GRCm39) |
V78I |
probably benign |
Het |
| Pcdha5 |
T |
C |
18: 37,095,233 (GRCm39) |
S581P |
probably benign |
Het |
| Phf10 |
T |
C |
17: 15,173,037 (GRCm39) |
|
probably null |
Het |
| Ppp2r3c |
C |
T |
12: 55,344,668 (GRCm39) |
W100* |
probably null |
Het |
| Prxl2b |
T |
G |
4: 154,981,507 (GRCm39) |
K190T |
probably benign |
Het |
| Pwwp3a |
C |
T |
10: 80,076,570 (GRCm39) |
|
probably benign |
Het |
| Riox2 |
T |
A |
16: 59,296,357 (GRCm39) |
|
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,994,452 (GRCm39) |
Y1276F |
probably damaging |
Het |
| Rps12-ps24 |
A |
G |
8: 36,493,268 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6-ps2 |
A |
G |
8: 89,533,319 (GRCm39) |
|
noncoding transcript |
Het |
| Scn11a |
G |
A |
9: 119,584,053 (GRCm39) |
L1521F |
probably damaging |
Het |
| Shoc2 |
A |
G |
19: 54,014,845 (GRCm39) |
Y346C |
probably damaging |
Het |
| Skp1 |
C |
T |
11: 52,135,905 (GRCm39) |
T138I |
probably benign |
Het |
| Snx29 |
T |
A |
16: 11,238,565 (GRCm39) |
|
probably null |
Het |
| Sos1 |
A |
G |
17: 80,761,240 (GRCm39) |
I152T |
probably damaging |
Het |
| Spag17 |
A |
T |
3: 99,992,682 (GRCm39) |
D1726V |
probably damaging |
Het |
| Tns4 |
A |
T |
11: 98,961,241 (GRCm39) |
C646S |
probably benign |
Het |
| Txndc11 |
T |
C |
16: 10,893,087 (GRCm39) |
H881R |
probably benign |
Het |
| Wls |
C |
A |
3: 159,578,564 (GRCm39) |
A42E |
probably damaging |
Het |
|
| Other mutations in Rad9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01411:Rad9a
|
APN |
19 |
4,251,336 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0690:Rad9a
|
UTSW |
19 |
4,247,359 (GRCm39) |
splice site |
probably null |
|
|
R1167:Rad9a
|
UTSW |
19 |
4,247,501 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1823:Rad9a
|
UTSW |
19 |
4,247,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Rad9a
|
UTSW |
19 |
4,247,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4694:Rad9a
|
UTSW |
19 |
4,250,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4695:Rad9a
|
UTSW |
19 |
4,250,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4742:Rad9a
|
UTSW |
19 |
4,250,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4743:Rad9a
|
UTSW |
19 |
4,250,560 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4765:Rad9a
|
UTSW |
19 |
4,250,488 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4824:Rad9a
|
UTSW |
19 |
4,250,536 (GRCm39) |
missense |
probably benign |
|
|
R4902:Rad9a
|
UTSW |
19 |
4,251,552 (GRCm39) |
start gained |
probably benign |
|
|
R5037:Rad9a
|
UTSW |
19 |
4,247,173 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5346:Rad9a
|
UTSW |
19 |
4,251,517 (GRCm39) |
splice site |
probably null |
|
|
R7532:Rad9a
|
UTSW |
19 |
4,251,522 (GRCm39) |
start gained |
probably benign |
|
|
R9490:Rad9a
|
UTSW |
19 |
4,247,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTGATGCTGCGTCTCAG -3'
(R):5'- CTCCACTGCAAGTATGGTGAG -3'
Sequencing Primer
(F):5'- GAAAGAGTCTCACTGCTTAGGCTAC -3'
(R):5'- TATGGTGAGCAAGCGGCCTG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation