Incidental Mutation 'R5392:Rad9b'
| ID |
425898 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rad9b
|
| Ensembl Gene |
ENSMUSG00000038569 |
| Gene Name |
RAD9 checkpoint clamp component B |
| Synonyms |
A630082N15Rik |
| MMRRC Submission |
042964-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
122461286-122492296 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 122489641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 25
(C25S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117334
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049009]
[ENSMUST00000111729]
[ENSMUST00000117263]
[ENSMUST00000117868]
[ENSMUST00000118765]
[ENSMUST00000118830]
[ENSMUST00000144268]
[ENSMUST00000145821]
[ENSMUST00000154686]
[ENSMUST00000155671]
|
| AlphaFold |
Q6WBX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049009
AA Change: C81S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036177
Gene: ENSMUSG00000038569
AA Change: C81S
| 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 damaging
Transcript: ENSMUST00000117263
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113868
Gene: ENSMUSG00000038569
AA Change: C25S
| 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 damaging
Transcript: ENSMUST00000144268
AA Change: C25S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117334
Gene: ENSMUSG00000038569
AA Change: C25S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Rad9
|
1 |
64 |
6.7e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200653
|
| 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: 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
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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 |
|---|
| Acoxl |
T |
C |
2: 127,852,088 (GRCm39) |
|
probably null |
Het |
| Acyp1 |
T |
C |
12: 85,325,759 (GRCm39) |
|
probably benign |
Het |
| Ces1b |
G |
A |
8: 93,798,590 (GRCm39) |
R199C |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,729,017 (GRCm39) |
R1308L |
probably benign |
Het |
| Cpa5 |
C |
T |
6: 30,630,829 (GRCm39) |
Q364* |
probably null |
Het |
| Cyth4 |
T |
A |
15: 78,491,185 (GRCm39) |
L88Q |
probably damaging |
Het |
| Dock7 |
A |
G |
4: 98,896,243 (GRCm39) |
V59A |
probably damaging |
Het |
| Drd2 |
A |
G |
9: 49,306,928 (GRCm39) |
N5D |
possibly damaging |
Het |
| Epsti1 |
T |
C |
14: 78,224,184 (GRCm39) |
I272T |
probably benign |
Het |
| Fndc3b |
A |
T |
3: 27,519,936 (GRCm39) |
C568* |
probably null |
Het |
| Frmd4a |
C |
T |
2: 4,599,384 (GRCm39) |
A161V |
probably damaging |
Het |
| Gfpt1 |
A |
G |
6: 87,054,139 (GRCm39) |
T465A |
probably damaging |
Het |
| Hecw1 |
C |
A |
13: 14,420,347 (GRCm39) |
Q1025H |
probably damaging |
Het |
| Irak4 |
A |
T |
15: 94,454,565 (GRCm39) |
M237L |
probably benign |
Het |
| Irak4 |
T |
C |
15: 94,454,566 (GRCm39) |
M237T |
probably benign |
Het |
| Kdsr |
T |
A |
1: 106,680,971 (GRCm39) |
I76F |
possibly damaging |
Het |
| Kif15 |
T |
C |
9: 122,825,360 (GRCm39) |
F533S |
probably damaging |
Het |
| Kmt5b |
T |
C |
19: 3,852,127 (GRCm39) |
F103L |
possibly damaging |
Het |
| Krtcap2 |
C |
T |
3: 89,154,186 (GRCm39) |
L36F |
probably benign |
Het |
| Mroh7 |
A |
G |
4: 106,568,448 (GRCm39) |
|
probably null |
Het |
| Mta1 |
T |
C |
12: 113,096,856 (GRCm39) |
V559A |
probably benign |
Het |
| N4bp1 |
A |
G |
8: 87,587,048 (GRCm39) |
|
probably null |
Het |
| Oas1d |
T |
C |
5: 121,055,003 (GRCm39) |
S192P |
possibly damaging |
Het |
| Or1n1b |
T |
A |
2: 36,780,686 (GRCm39) |
Y58F |
probably benign |
Het |
| Or6c76 |
A |
G |
10: 129,612,184 (GRCm39) |
I149V |
probably benign |
Het |
| Or6d15 |
A |
G |
6: 116,559,379 (GRCm39) |
F176S |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,359,501 (GRCm39) |
N21K |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,814,102 (GRCm39) |
S454P |
probably damaging |
Het |
| Spink2 |
T |
A |
5: 77,354,872 (GRCm39) |
H40L |
probably benign |
Het |
| Syne1 |
T |
A |
10: 5,298,661 (GRCm39) |
D1082V |
probably damaging |
Het |
| Syt2 |
A |
G |
1: 134,671,759 (GRCm39) |
D179G |
probably damaging |
Het |
| Tm7sf2 |
T |
C |
19: 6,113,998 (GRCm39) |
D181G |
probably damaging |
Het |
| Vmn1r174 |
A |
G |
7: 23,454,227 (GRCm39) |
I298V |
unknown |
Het |
| Vmn2r23 |
A |
T |
6: 123,681,323 (GRCm39) |
H77L |
probably benign |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Vps9d1 |
T |
C |
8: 123,980,752 (GRCm39) |
E25G |
probably damaging |
Het |
| Zfp119a |
T |
C |
17: 56,173,328 (GRCm39) |
R172G |
probably benign |
Het |
| Zfp51 |
A |
T |
17: 21,685,584 (GRCm39) |
Y733F |
possibly damaging |
Het |
| Zfp658 |
A |
C |
7: 43,222,355 (GRCm39) |
E210A |
probably benign |
Het |
| Zp2 |
C |
A |
7: 119,734,987 (GRCm39) |
E433* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAAAGATTGGCAGAACTGACTG -3'
(R):5'- TGGTCACAGCAGGATTGACTC -3'
Sequencing Primer
(F):5'- TGACTGCAATACAAACACATCG -3'
(R):5'- TTGACTCAGGATAGAAGTCGGTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation