Incidental Mutation 'V1662:Rpusd4'
| ID |
63487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rpusd4
|
| Ensembl Gene |
ENSMUSG00000032044 |
| Gene Name |
RNA pseudouridylate synthase domain containing 4 |
| Synonyms |
2410001E19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.921)
|
| Stock # |
V1662 ()
of strain
633
|
| Quality Score |
200 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35179177-35187253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 35184057 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 237
(S237R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034543]
[ENSMUST00000059057]
[ENSMUST00000063782]
[ENSMUST00000121564]
[ENSMUST00000125087]
|
| AlphaFold |
Q9CWX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034543
AA Change: S237R
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: S237R
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
G |
C |
5: 114,376,769 (GRCm39) |
G1951R |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,071,894 (GRCm39) |
L146Q |
probably benign |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,323,540 (GRCm39) |
V601M |
probably benign |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arhgef2 |
G |
A |
3: 88,540,636 (GRCm39) |
R154Q |
probably damaging |
Het |
| Bank1 |
T |
A |
3: 135,760,179 (GRCm39) |
D782V |
probably damaging |
Het |
| Bhlha9 |
G |
T |
11: 76,563,862 (GRCm39) |
R163L |
probably benign |
Het |
| Cacna1h |
T |
C |
17: 25,596,283 (GRCm39) |
N1913D |
possibly damaging |
Het |
| Cd7 |
T |
C |
11: 120,927,952 (GRCm39) |
I184V |
probably benign |
Het |
| Cdk2ap1 |
T |
A |
5: 124,486,739 (GRCm39) |
I68F |
possibly damaging |
Het |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| D6Ertd527e |
T |
C |
6: 87,088,874 (GRCm39) |
S346P |
unknown |
Het |
| Daam2 |
A |
G |
17: 49,771,629 (GRCm39) |
L839P |
possibly damaging |
Het |
| Gask1a |
A |
G |
9: 121,794,091 (GRCm39) |
R82G |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| H2-T9 |
A |
G |
17: 36,439,823 (GRCm39) |
Y104H |
probably benign |
Het |
| Itgav |
C |
T |
2: 83,614,198 (GRCm39) |
R519W |
possibly damaging |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Or2y8 |
T |
C |
11: 52,036,004 (GRCm39) |
M118V |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Het |
| Or5m13 |
C |
A |
2: 85,748,938 (GRCm39) |
T223K |
probably benign |
Het |
| Or6b13 |
C |
T |
7: 139,781,871 (GRCm39) |
D271N |
possibly damaging |
Het |
| Pyroxd1 |
G |
A |
6: 142,304,169 (GRCm39) |
G307S |
probably damaging |
Het |
| Rp1 |
T |
A |
1: 4,419,783 (GRCm39) |
Y443F |
probably damaging |
Het |
| Sdk2 |
A |
C |
11: 113,725,734 (GRCm39) |
W1172G |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
| Vmn1r193 |
A |
G |
13: 22,403,245 (GRCm39) |
I249T |
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 |
|
R8246:Rpusd4
|
UTSW |
9 |
35,183,876 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAAACAGCAGTCTGTGTGTCACC -3'
(R):5'- TCCCTCCTGGGCTAAGTCAATTATACC -3'
Sequencing Primer
(F):5'- ATCACGGTGCGTGTTCC -3'
(R):5'- TGGGCTAAGTCAATTATACCCACAC -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation