Incidental Mutation 'IGL01780:Rpusd4'
| ID |
154153 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rpusd4
|
| Ensembl Gene |
ENSMUSG00000032044 |
| Gene Name |
RNA pseudouridylate synthase domain containing 4 |
| Synonyms |
2410001E19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.919)
|
| Stock # |
IGL01780
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
35179177-35187253 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 35179720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 71
(R71Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034543
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034543]
[ENSMUST00000059057]
[ENSMUST00000063782]
[ENSMUST00000121564]
[ENSMUST00000125087]
[ENSMUST00000217306]
|
| AlphaFold |
Q9CWX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034543
AA Change: R71Q
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034543
Gene: ENSMUSG00000032044
AA Change: R71Q
| 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: ENSMUST00000147256
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146571
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217306
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
A |
G |
8: 71,914,121 (GRCm39) |
V169A |
probably benign |
Het |
| Aopep |
A |
G |
13: 63,357,939 (GRCm39) |
N648D |
probably benign |
Het |
| BC024139 |
C |
A |
15: 76,005,343 (GRCm39) |
L506F |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,112,474 (GRCm39) |
L1221P |
probably damaging |
Het |
| Cfap65 |
A |
T |
1: 74,967,507 (GRCm39) |
C190* |
probably null |
Het |
| Cib2 |
A |
T |
9: 54,457,170 (GRCm39) |
H31Q |
probably damaging |
Het |
| Emb |
A |
G |
13: 117,386,007 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,755,175 (GRCm39) |
M867V |
probably benign |
Het |
| Flnc |
A |
T |
6: 29,438,492 (GRCm39) |
K129* |
probably null |
Het |
| Gckr |
C |
A |
5: 31,465,134 (GRCm39) |
H368N |
possibly damaging |
Het |
| Gmds |
A |
T |
13: 32,409,145 (GRCm39) |
Y106* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,355 (GRCm39) |
T118A |
probably damaging |
Het |
| Kcnh7 |
G |
A |
2: 62,667,507 (GRCm39) |
T344I |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,279,007 (GRCm39) |
I53V |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,010,539 (GRCm39) |
L207Q |
probably damaging |
Het |
| Lipo2 |
A |
G |
19: 33,708,348 (GRCm39) |
L222P |
possibly damaging |
Het |
| Lrp2 |
A |
C |
2: 69,316,528 (GRCm39) |
V2151G |
possibly damaging |
Het |
| Mrc2 |
A |
G |
11: 105,216,547 (GRCm39) |
D112G |
probably damaging |
Het |
| Mrgpra6 |
T |
C |
7: 46,838,497 (GRCm39) |
T234A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,941,482 (GRCm39) |
N338S |
probably benign |
Het |
| Mrpl23 |
T |
A |
7: 142,089,802 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,741,073 (GRCm39) |
N1442S |
probably benign |
Het |
| Nxn |
A |
G |
11: 76,165,480 (GRCm39) |
|
probably benign |
Het |
| Or8w1 |
T |
C |
2: 87,465,424 (GRCm39) |
I222M |
possibly damaging |
Het |
| Osmr |
A |
T |
15: 6,858,144 (GRCm39) |
N441K |
probably benign |
Het |
| Patl2 |
A |
C |
2: 121,952,327 (GRCm39) |
S468R |
probably damaging |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,575 (GRCm39) |
S509P |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,049,134 (GRCm39) |
V126F |
probably benign |
Het |
| Prom1 |
A |
G |
5: 44,186,946 (GRCm39) |
|
probably benign |
Het |
| Prss1 |
C |
A |
6: 41,440,139 (GRCm39) |
Q159K |
probably damaging |
Het |
| Psd3 |
G |
T |
8: 68,416,521 (GRCm39) |
H459N |
probably benign |
Het |
| Rasgrp1 |
A |
G |
2: 117,115,359 (GRCm39) |
L743P |
probably benign |
Het |
| Rsf1 |
C |
T |
7: 97,313,977 (GRCm39) |
|
probably benign |
Het |
| Scaf11 |
T |
C |
15: 96,318,725 (GRCm39) |
T280A |
possibly damaging |
Het |
| Slc16a4 |
A |
G |
3: 107,210,415 (GRCm39) |
I362V |
probably benign |
Het |
| Syt16 |
T |
C |
12: 74,313,616 (GRCm39) |
V514A |
probably benign |
Het |
| Tdpoz2 |
A |
G |
3: 93,559,735 (GRCm39) |
V79A |
possibly damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,768 (GRCm39) |
M1635T |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,255 (GRCm39) |
T242A |
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,508,136 (GRCm39) |
V736A |
probably 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 |
|
|
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 |
|
V1662:Rpusd4
|
UTSW |
9 |
35,184,057 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Posted On |
2014-02-04 |
Incidental Mutation