Incidental Mutation 'R6695:Rad9b'
| ID |
528533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad9b
|
| Ensembl Gene |
ENSMUSG00000038569 |
| Gene Name |
RAD9 checkpoint clamp component B |
| Synonyms |
A630082N15Rik |
| MMRRC Submission |
044813-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6695 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
122461286-122492296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 122489754 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 43
(N43S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036177
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049009]
[ENSMUST00000111729]
[ENSMUST00000117263]
[ENSMUST00000117868]
[ENSMUST00000118765]
[ENSMUST00000118830]
[ENSMUST00000144268]
[ENSMUST00000155671]
[ENSMUST00000145821]
[ENSMUST00000154686]
|
| AlphaFold |
Q6WBX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049009
AA Change: N43S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: N43S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
14 |
271 |
1.8e-91 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111729
|
| SMART Domains |
Protein: ENSMUSP00000107358
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
42 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117263
|
| SMART Domains |
Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
14 |
271 |
1.1e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117868
|
| SMART Domains |
Protein: ENSMUSP00000113345
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos_2
|
1 |
143 |
1.1e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118765
|
| SMART Domains |
Protein: ENSMUSP00000112579
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:1W24|A
|
1 |
65 |
7e-42 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118830
|
| SMART Domains |
Protein: ENSMUSP00000113525
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos_2
|
6 |
162 |
1.6e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132785
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144268
|
| SMART Domains |
Protein: ENSMUSP00000117334
Gene: ENSMUSG00000038569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
1 |
64 |
6.7e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149600
|
| SMART Domains |
Protein: ENSMUSP00000120843
Gene: ENSMUSG00000038569
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
1 |
85 |
4.3e-25 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155671
|
| SMART Domains |
Protein: ENSMUSP00000121020
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos_2
|
1 |
158 |
3.4e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200653
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145821
|
| SMART Domains |
Protein: ENSMUSP00000123593
Gene: ENSMUSG00000029462
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Metallophos_2
|
11 |
124 |
1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154686
|
| Meta Mutation Damage Score |
0.2105 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd9 |
A |
T |
12: 110,943,497 (GRCm39) |
L179H |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,612,714 (GRCm39) |
A370S |
probably damaging |
Het |
| Cc2d2a |
A |
T |
5: 43,876,019 (GRCm39) |
I1053F |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,721,230 (GRCm39) |
V1467A |
probably damaging |
Het |
| Cyp4f15 |
T |
A |
17: 32,911,586 (GRCm39) |
L156* |
probably null |
Het |
| Dmwd |
T |
A |
7: 18,814,652 (GRCm39) |
L434Q |
probably damaging |
Het |
| Dtx4 |
T |
A |
19: 12,450,599 (GRCm39) |
R538* |
probably null |
Het |
| Fcgbp |
T |
A |
7: 27,785,695 (GRCm39) |
C377* |
probably null |
Het |
| Galntl6 |
G |
T |
8: 58,880,804 (GRCm39) |
H116Q |
probably damaging |
Het |
| Herc1 |
T |
A |
9: 66,391,148 (GRCm39) |
|
probably null |
Het |
| Hydin |
T |
G |
8: 111,053,092 (GRCm39) |
S255A |
probably benign |
Het |
| Knstrn |
G |
A |
2: 118,644,723 (GRCm39) |
A48T |
probably damaging |
Het |
| Lonrf2 |
T |
C |
1: 38,852,470 (GRCm39) |
D127G |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,272,609 (GRCm39) |
S12P |
possibly damaging |
Het |
| Man2c1 |
A |
T |
9: 57,048,875 (GRCm39) |
H822L |
probably benign |
Het |
| Map3k13 |
G |
T |
16: 21,741,028 (GRCm39) |
G785V |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,219,366 (GRCm39) |
H454R |
probably damaging |
Het |
| Mib2 |
G |
A |
4: 155,745,629 (GRCm39) |
R61C |
probably damaging |
Het |
| Muc15 |
A |
T |
2: 110,561,616 (GRCm39) |
L17F |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,114,652 (GRCm39) |
I879V |
probably benign |
Het |
| Nomo1 |
T |
A |
7: 45,715,885 (GRCm39) |
S751T |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,117 (GRCm39) |
S110C |
probably benign |
Het |
| Or5b24 |
A |
T |
19: 12,912,764 (GRCm39) |
I221L |
possibly damaging |
Het |
| Or5g27 |
A |
G |
2: 85,409,793 (GRCm39) |
D70G |
probably damaging |
Het |
| Pcdhac2 |
A |
G |
18: 37,278,256 (GRCm39) |
N412S |
probably benign |
Het |
| Plk5 |
T |
C |
10: 80,196,035 (GRCm39) |
S235P |
probably benign |
Het |
| Ppm1j |
A |
G |
3: 104,692,802 (GRCm39) |
D437G |
probably damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,633,262 (GRCm39) |
E1148G |
probably damaging |
Het |
| Rc3h2 |
A |
C |
2: 37,304,673 (GRCm39) |
I29S |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
| Spdl1 |
T |
A |
11: 34,713,830 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
T |
1: 174,071,608 (GRCm39) |
|
probably null |
Het |
| Stk32c |
A |
T |
7: 138,702,880 (GRCm39) |
V53E |
probably damaging |
Het |
| Strc |
A |
T |
2: 121,207,705 (GRCm39) |
F555L |
probably benign |
Het |
| Sugct |
T |
G |
13: 17,497,815 (GRCm39) |
N286T |
possibly damaging |
Het |
| Swsap1 |
A |
T |
9: 21,867,971 (GRCm39) |
|
probably null |
Het |
| Thbs2 |
T |
A |
17: 14,894,426 (GRCm39) |
D807V |
possibly damaging |
Het |
| Tnrc6b |
A |
G |
15: 80,763,974 (GRCm39) |
D492G |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,514,018 (GRCm39) |
S1184T |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,022,436 (GRCm39) |
Y945N |
probably benign |
Het |
| Usp54 |
G |
T |
14: 20,610,937 (GRCm39) |
A1293D |
possibly damaging |
Het |
| Vps52 |
A |
T |
17: 34,182,173 (GRCm39) |
K516* |
probably null |
Het |
| Zbtb17 |
T |
A |
4: 141,189,110 (GRCm39) |
V10D |
probably damaging |
Het |
| Zfp607b |
T |
C |
7: 27,403,464 (GRCm39) |
V640A |
probably benign |
Het |
|
| Other mutations in Rad9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00780:Rad9b
|
APN |
5 |
122,482,310 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGTTAAGCCCTACAAAAGGAG -3'
(R):5'- TTACGGTATCAGAGCTTGAGAGTATAG -3'
Sequencing Primer
(F):5'- AGTATCACTCATCGTGGC -3'
(R):5'- CATGTGCAAGTTCAGTGC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation