Incidental Mutation 'IGL02257:Pus7'
| ID |
286615 |
| 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: 0.643)
|
| Stock # |
IGL02257
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 23967459 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 247
(H247Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
| AlphaFold |
Q91VU7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119946
AA Change: H247Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: H247Q
| 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 damaging
Transcript: ENSMUST00000131992
AA Change: H247Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: H247Q
| 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
AA Change: H253Q
PolyPhen 2
Score 0.155 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: H253Q
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
C |
T |
11: 116,486,535 (GRCm39) |
Q25* |
probably null |
Het |
| Adam8 |
A |
T |
7: 139,567,561 (GRCm39) |
V394D |
possibly damaging |
Het |
| Ahnak2 |
A |
G |
12: 112,748,905 (GRCm39) |
F314S |
possibly damaging |
Het |
| Arsg |
T |
C |
11: 109,412,473 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
T |
G |
4: 140,733,400 (GRCm39) |
V958G |
probably benign |
Het |
| Ces5a |
T |
C |
8: 94,252,226 (GRCm39) |
D218G |
probably benign |
Het |
| Cntnap4 |
T |
A |
8: 113,343,126 (GRCm39) |
L63Q |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,145,606 (GRCm39) |
T655A |
possibly damaging |
Het |
| Ddc |
A |
T |
11: 11,823,171 (GRCm39) |
L133* |
probably null |
Het |
| Fat4 |
C |
T |
3: 39,055,288 (GRCm39) |
A4169V |
probably benign |
Het |
| Gnpat |
T |
C |
8: 125,613,587 (GRCm39) |
|
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,536 (GRCm39) |
D678G |
probably benign |
Het |
| Hk1 |
T |
C |
10: 62,107,422 (GRCm39) |
D851G |
probably benign |
Het |
| Hsd11b2 |
G |
A |
8: 106,249,854 (GRCm39) |
V322I |
probably benign |
Het |
| Hsd17b3 |
G |
A |
13: 64,207,276 (GRCm39) |
T255M |
probably benign |
Het |
| Hsp90b1 |
T |
C |
10: 86,534,453 (GRCm39) |
S284G |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,071,096 (GRCm39) |
I69L |
probably damaging |
Het |
| Mmut |
C |
T |
17: 41,249,625 (GRCm39) |
T200I |
possibly damaging |
Het |
| Morn3 |
T |
G |
5: 123,175,788 (GRCm39) |
D200A |
probably damaging |
Het |
| Mtss1 |
A |
G |
15: 58,828,394 (GRCm39) |
V173A |
probably damaging |
Het |
| Myl6b |
T |
C |
10: 128,333,210 (GRCm39) |
|
probably benign |
Het |
| Nin |
A |
G |
12: 70,149,465 (GRCm39) |
V48A |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,262,155 (GRCm39) |
I95N |
probably damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,629 (GRCm39) |
V279I |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Phlpp2 |
T |
A |
8: 110,646,731 (GRCm39) |
V529E |
possibly damaging |
Het |
| Pnlip |
G |
A |
19: 58,662,306 (GRCm39) |
V151I |
probably benign |
Het |
| Setd6 |
T |
C |
8: 96,443,320 (GRCm39) |
Y188H |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,061,328 (GRCm39) |
S444P |
probably benign |
Het |
| Sox9 |
C |
A |
11: 112,675,811 (GRCm39) |
H333Q |
possibly damaging |
Het |
| Specc1 |
T |
A |
11: 62,009,243 (GRCm39) |
I333N |
probably damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,872,039 (GRCm39) |
T59I |
probably damaging |
Het |
| Vmn2r93 |
A |
C |
17: 18,545,770 (GRCm39) |
|
probably benign |
Het |
| Vrk2 |
A |
T |
11: 26,484,266 (GRCm39) |
V163D |
probably damaging |
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 |
|
IGL01813:Pus7
|
APN |
5 |
23,965,302 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation