Incidental Mutation 'IGL01813:Pus7'
| ID |
154329 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pus7
|
| Ensembl Gene |
ENSMUSG00000057541 |
| Gene Name |
pseudouridylate synthase 7 |
| Synonyms |
C330017I15Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.650)
|
| Stock # |
IGL01813
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 23965302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
| AlphaFold |
Q91VU7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119946
|
| SMART Domains |
Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
246 |
641 |
9e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131404
|
| SMART Domains |
Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruD
|
1 |
184 |
3e-42 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131992
|
| SMART Domains |
Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
239 |
641 |
1.3e-71 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147922
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148618
|
| SMART Domains |
Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
251 |
647 |
6.3e-69 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151449
|
| SMART Domains |
Protein: ENSMUSP00000120575
Gene: ENSMUSG00000057541
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
48 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
136 |
144 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,117,936 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,906,359 (GRCm39) |
V929A |
probably benign |
Het |
| Aldh2 |
T |
C |
5: 121,710,136 (GRCm39) |
I400V |
probably benign |
Het |
| Atxn2l |
T |
C |
7: 126,099,425 (GRCm39) |
D84G |
probably damaging |
Het |
| Avpr1a |
T |
A |
10: 122,284,916 (GRCm39) |
N69K |
probably damaging |
Het |
| BC034090 |
G |
A |
1: 155,102,085 (GRCm39) |
Q60* |
probably null |
Het |
| Bltp1 |
G |
A |
3: 36,982,669 (GRCm39) |
S778N |
possibly damaging |
Het |
| Bub3 |
T |
C |
7: 131,170,362 (GRCm39) |
S295P |
probably benign |
Het |
| Cacna1b |
T |
C |
2: 24,499,902 (GRCm39) |
S161G |
probably damaging |
Het |
| Clba1 |
C |
T |
12: 112,779,179 (GRCm39) |
T272M |
probably damaging |
Het |
| Col6a4 |
T |
A |
9: 105,954,452 (GRCm39) |
S296C |
probably damaging |
Het |
| Cyp4f15 |
G |
A |
17: 32,905,131 (GRCm39) |
R38H |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,122,799 (GRCm39) |
I2052M |
probably damaging |
Het |
| Gm11627 |
T |
C |
11: 102,469,634 (GRCm39) |
|
probably benign |
Het |
| Jmjd8 |
A |
T |
17: 26,048,212 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
A |
G |
5: 25,495,802 (GRCm39) |
V629A |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,149,667 (GRCm39) |
T335A |
probably benign |
Het |
| Oosp2 |
T |
C |
19: 11,628,847 (GRCm39) |
T85A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,649 (GRCm39) |
E184G |
probably damaging |
Het |
| Or8s10 |
A |
G |
15: 98,335,530 (GRCm39) |
Y60C |
possibly damaging |
Het |
| Pex5l |
T |
C |
3: 33,136,204 (GRCm39) |
E5G |
probably benign |
Het |
| Pigk |
A |
T |
3: 152,448,156 (GRCm39) |
Q173L |
probably damaging |
Het |
| Pik3c2g |
T |
A |
6: 139,599,407 (GRCm39) |
N174K |
possibly damaging |
Het |
| Plb1 |
C |
T |
5: 32,486,429 (GRCm39) |
H893Y |
probably damaging |
Het |
| R3hdm1 |
G |
A |
1: 128,102,970 (GRCm39) |
|
probably null |
Het |
| Samd7 |
C |
T |
3: 30,808,435 (GRCm39) |
P83S |
probably benign |
Het |
| Supt5 |
T |
A |
7: 28,023,400 (GRCm39) |
Y293F |
probably damaging |
Het |
| Tbc1d30 |
T |
C |
10: 121,102,956 (GRCm39) |
D692G |
probably benign |
Het |
| Tmpo |
G |
A |
10: 90,999,104 (GRCm39) |
R228C |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,916,008 (GRCm39) |
H1236Q |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,781,914 (GRCm39) |
I667T |
probably benign |
Het |
| Vmn1r183 |
T |
A |
7: 23,754,985 (GRCm39) |
F263I |
probably benign |
Het |
|
| Other mutations in Pus7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01301:Pus7
|
APN |
5 |
23,951,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01690:Pus7
|
APN |
5 |
23,980,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02257:Pus7
|
APN |
5 |
23,967,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02892:Pus7
|
APN |
5 |
23,959,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
pyrite
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
ANU18:Pus7
|
UTSW |
5 |
23,951,422 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0010:Pus7
|
UTSW |
5 |
23,952,843 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0139:Pus7
|
UTSW |
5 |
23,983,090 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0219:Pus7
|
UTSW |
5 |
23,980,964 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1127:Pus7
|
UTSW |
5 |
23,973,793 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1655:Pus7
|
UTSW |
5 |
23,952,798 (GRCm39) |
nonsense |
probably null |
|
|
R1795:Pus7
|
UTSW |
5 |
23,946,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1906:Pus7
|
UTSW |
5 |
23,983,209 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4379:Pus7
|
UTSW |
5 |
23,953,864 (GRCm39) |
intron |
probably benign |
|
|
R4430:Pus7
|
UTSW |
5 |
23,951,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4431:Pus7
|
UTSW |
5 |
23,951,487 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5569:Pus7
|
UTSW |
5 |
23,953,832 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6854:Pus7
|
UTSW |
5 |
23,973,845 (GRCm39) |
synonymous |
silent |
|
|
R7051:Pus7
|
UTSW |
5 |
23,980,677 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7238:Pus7
|
UTSW |
5 |
23,983,450 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7278:Pus7
|
UTSW |
5 |
23,957,342 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7297:Pus7
|
UTSW |
5 |
23,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Pus7
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7650:Pus7
|
UTSW |
5 |
23,965,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7992:Pus7
|
UTSW |
5 |
23,951,465 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8843:Pus7
|
UTSW |
5 |
23,980,754 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8887:Pus7
|
UTSW |
5 |
23,948,476 (GRCm39) |
nonsense |
probably null |
|
|
R9102:Pus7
|
UTSW |
5 |
23,957,380 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9485:Pus7
|
UTSW |
5 |
23,973,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0013:Pus7
|
UTSW |
5 |
23,957,273 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation