Incidental Mutation 'R8246:Rpusd4'
| ID |
640765 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpusd4
|
| Ensembl Gene |
ENSMUSG00000032044 |
| Gene Name |
RNA pseudouridylate synthase domain containing 4 |
| Synonyms |
2410001E19Rik |
| MMRRC Submission |
067852-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
R8246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35179177-35187253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 35183876 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 202
(I202V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034543]
[ENSMUST00000059057]
[ENSMUST00000063782]
[ENSMUST00000121564]
[ENSMUST00000125087]
[ENSMUST00000217306]
|
| AlphaFold |
Q9CWX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034543
AA Change: I202V
PolyPhen 2
Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: I202V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PseudoU_synth_2
|
105 |
277 |
5.5e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059057
|
| SMART Domains |
Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
1.9e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063782
|
| SMART Domains |
Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SIR2_2
|
75 |
225 |
7.7e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121564
|
| SMART Domains |
Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
301 |
2.7e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125087
|
| SMART Domains |
Protein: ENSMUSP00000119747
Gene: ENSMUSG00000050471
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
86 |
N/A |
INTRINSIC |
|
Pfam:SIR2_2
|
157 |
268 |
3.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130552
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146571
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144582
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217306
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
C |
A |
7: 80,742,524 (GRCm39) |
D780E |
probably benign |
Het |
| Anln |
A |
C |
9: 22,262,251 (GRCm39) |
S947A |
probably benign |
Het |
| Borcs6 |
C |
T |
11: 68,951,377 (GRCm39) |
P252S |
probably benign |
Het |
| Ccdc42 |
C |
A |
11: 68,478,122 (GRCm39) |
Q28K |
probably benign |
Het |
| Cp |
A |
G |
3: 20,029,186 (GRCm39) |
I554M |
probably damaging |
Het |
| Dnm3 |
T |
G |
1: 162,135,486 (GRCm39) |
D429A |
probably damaging |
Het |
| Dok5 |
A |
G |
2: 170,642,813 (GRCm39) |
K37R |
probably benign |
Het |
| Dtwd2 |
A |
T |
18: 49,831,492 (GRCm39) |
Y268N |
probably benign |
Het |
| Eif3a |
T |
C |
19: 60,767,806 (GRCm39) |
E244G |
probably damaging |
Het |
| Elapor2 |
T |
C |
5: 9,496,966 (GRCm39) |
V810A |
probably benign |
Het |
| Fam149a |
T |
C |
8: 45,834,655 (GRCm39) |
E48G |
probably benign |
Het |
| Fam186a |
T |
A |
15: 99,838,428 (GRCm39) |
E2605D |
unknown |
Het |
| Fhip1b |
T |
C |
7: 105,038,867 (GRCm39) |
E124G |
probably damaging |
Het |
| Fyn |
T |
A |
10: 39,405,525 (GRCm39) |
W264R |
probably damaging |
Het |
| Gm10024 |
T |
A |
10: 77,547,369 (GRCm39) |
S27T |
unknown |
Het |
| Gpr157 |
C |
T |
4: 150,186,753 (GRCm39) |
L294F |
possibly damaging |
Het |
| Kif6 |
C |
T |
17: 50,065,542 (GRCm39) |
Q506* |
probably null |
Het |
| Klrh1 |
A |
G |
6: 129,752,339 (GRCm39) |
|
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,451,242 (GRCm39) |
K707R |
possibly damaging |
Het |
| Mcub |
C |
A |
3: 129,708,814 (GRCm39) |
V328L |
probably benign |
Het |
| Mdn1 |
C |
T |
4: 32,657,284 (GRCm39) |
P12S |
probably benign |
Het |
| Mrgprb3 |
T |
G |
7: 48,293,268 (GRCm39) |
L94F |
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,392,640 (GRCm39) |
P3307Q |
probably damaging |
Het |
| Nol8 |
T |
G |
13: 49,808,724 (GRCm39) |
|
probably benign |
Het |
| Or11g2 |
A |
G |
14: 50,855,841 (GRCm39) |
Y54C |
probably benign |
Het |
| Or4f57 |
T |
C |
2: 111,790,483 (GRCm39) |
I312V |
probably benign |
Het |
| Pax5 |
T |
C |
4: 44,570,027 (GRCm39) |
H286R |
probably benign |
Het |
| Rmdn2 |
T |
A |
17: 79,979,966 (GRCm39) |
C381* |
probably null |
Het |
| Shank3 |
A |
T |
15: 89,417,549 (GRCm39) |
R49W |
possibly damaging |
Het |
| Smurf2 |
T |
C |
11: 106,721,870 (GRCm39) |
T542A |
probably benign |
Het |
| Sorcs2 |
G |
A |
5: 36,219,932 (GRCm39) |
R371C |
probably damaging |
Het |
| Sqstm1 |
T |
C |
11: 50,101,388 (GRCm39) |
H66R |
probably damaging |
Het |
| Stard8 |
C |
T |
X: 98,109,570 (GRCm39) |
S155L |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,091,889 (GRCm39) |
V1582D |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,427,156 (GRCm39) |
M331V |
probably damaging |
Het |
| Tinf2 |
T |
C |
14: 55,917,042 (GRCm39) |
S368G |
probably damaging |
Het |
| Tmem184c |
A |
T |
8: 78,336,814 (GRCm39) |
I14N |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 120,985,941 (GRCm39) |
*911W |
probably null |
Het |
| Unc13b |
T |
C |
4: 43,175,954 (GRCm39) |
F2261L |
unknown |
Het |
| Vps16 |
G |
C |
2: 130,280,793 (GRCm39) |
G241R |
probably damaging |
Het |
| Ythdc1 |
C |
T |
5: 86,965,181 (GRCm39) |
T292I |
possibly damaging |
Het |
|
| Other mutations in Rpusd4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00597:Rpusd4
|
APN |
9 |
35,179,738 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL00722:Rpusd4
|
APN |
9 |
35,179,714 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01657:Rpusd4
|
APN |
9 |
35,184,757 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01780:Rpusd4
|
APN |
9 |
35,179,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03290:Rpusd4
|
APN |
9 |
35,179,273 (GRCm39) |
missense |
probably benign |
|
|
R0607:Rpusd4
|
UTSW |
9 |
35,179,289 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1081:Rpusd4
|
UTSW |
9 |
35,186,384 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1441:Rpusd4
|
UTSW |
9 |
35,184,065 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2029:Rpusd4
|
UTSW |
9 |
35,179,310 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3929:Rpusd4
|
UTSW |
9 |
35,183,876 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4107:Rpusd4
|
UTSW |
9 |
35,186,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4840:Rpusd4
|
UTSW |
9 |
35,179,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Rpusd4
|
UTSW |
9 |
35,183,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5801:Rpusd4
|
UTSW |
9 |
35,181,369 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5988:Rpusd4
|
UTSW |
9 |
35,183,816 (GRCm39) |
splice site |
probably null |
|
|
R6318:Rpusd4
|
UTSW |
9 |
35,179,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7819:Rpusd4
|
UTSW |
9 |
35,179,228 (GRCm39) |
missense |
probably benign |
|
|
R7995:Rpusd4
|
UTSW |
9 |
35,184,017 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8227:Rpusd4
|
UTSW |
9 |
35,179,831 (GRCm39) |
missense |
probably benign |
0.22 |
|
V1662:Rpusd4
|
UTSW |
9 |
35,184,057 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCTTTCACATAGAGAAGACACTG -3'
(R):5'- AAGCACCTGGTACTGCGTTAC -3'
Sequencing Primer
(F):5'- CTGTAAAAGTGTAGTAAAGATGGTCC -3'
(R):5'- GGCTGGCCCGTACCTTTAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation