Incidental Mutation 'IGL01690:Pus7'
ID |
104079 |
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 # |
IGL01690
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23980962 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 134
(S134P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
AlphaFold |
Q91VU7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119946
AA Change: S134P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113801 Gene: ENSMUSG00000057541 AA Change: S134P
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
Pfam:TruD
|
246 |
641 |
9e-69 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131992
AA Change: S134P
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000123129 Gene: ENSMUSG00000057541 AA Change: S134P
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
Pfam:TruD
|
239 |
641 |
1.3e-71 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148618
AA Change: S134P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000114588 Gene: ENSMUSG00000057541 AA Change: S134P
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
Pfam:TruD
|
251 |
647 |
6.3e-69 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000151449
AA Change: S104P
|
SMART Domains |
Protein: ENSMUSP00000120575 Gene: ENSMUSG00000057541 AA Change: S104P
Domain | Start | End | E-Value | Type |
low complexity region
|
48 |
70 |
N/A |
INTRINSIC |
low complexity region
|
136 |
144 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195909
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931429P17Rik |
A |
G |
13: 48,114,446 (GRCm39) |
|
noncoding transcript |
Het |
Agap2 |
T |
C |
10: 126,918,827 (GRCm39) |
|
probably benign |
Het |
Bicra |
G |
A |
7: 15,721,678 (GRCm39) |
T613I |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,284,277 (GRCm39) |
S150P |
possibly damaging |
Het |
Cfap107 |
G |
A |
4: 144,165,098 (GRCm39) |
T26M |
probably damaging |
Het |
F830045P16Rik |
T |
G |
2: 129,314,614 (GRCm39) |
Q221P |
probably damaging |
Het |
Fam135b |
T |
A |
15: 71,328,784 (GRCm39) |
M1172L |
probably benign |
Het |
Fbxo2 |
G |
T |
4: 148,249,581 (GRCm39) |
|
probably null |
Het |
Frem1 |
C |
T |
4: 82,877,533 (GRCm39) |
|
probably benign |
Het |
Galnt17 |
C |
T |
5: 131,114,734 (GRCm39) |
|
probably null |
Het |
Gipc2 |
A |
G |
3: 151,833,771 (GRCm39) |
I170T |
probably damaging |
Het |
Gm2399 |
C |
T |
13: 12,717,417 (GRCm39) |
|
noncoding transcript |
Het |
Hdac10 |
T |
A |
15: 89,010,194 (GRCm39) |
M283L |
probably benign |
Het |
Icam5 |
A |
G |
9: 20,946,095 (GRCm39) |
E309G |
possibly damaging |
Het |
Ift70a1 |
A |
G |
2: 75,810,277 (GRCm39) |
V602A |
probably benign |
Het |
Igkv3-5 |
T |
A |
6: 70,640,865 (GRCm39) |
S115R |
probably benign |
Het |
Impg2 |
A |
G |
16: 56,025,568 (GRCm39) |
R67G |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,232 (GRCm39) |
Y356C |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,168,655 (GRCm39) |
D751G |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,917,831 (GRCm39) |
D3297G |
probably damaging |
Het |
Mall |
A |
G |
2: 127,571,699 (GRCm39) |
F30L |
probably benign |
Het |
Map1b |
C |
T |
13: 99,571,512 (GRCm39) |
G403D |
probably damaging |
Het |
Mmp11 |
T |
C |
10: 75,762,730 (GRCm39) |
Y241C |
probably damaging |
Het |
Niban1 |
C |
A |
1: 151,579,555 (GRCm39) |
R425S |
probably damaging |
Het |
Or4a72 |
A |
G |
2: 89,405,557 (GRCm39) |
V171A |
probably benign |
Het |
Pcnt |
C |
T |
10: 76,228,609 (GRCm39) |
A1519T |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,529,490 (GRCm39) |
M96V |
probably benign |
Het |
Piwil4 |
T |
C |
9: 14,614,391 (GRCm39) |
D124G |
probably damaging |
Het |
Plb1 |
A |
T |
5: 32,471,041 (GRCm39) |
I538F |
probably damaging |
Het |
Polq |
A |
G |
16: 36,883,200 (GRCm39) |
D1788G |
probably damaging |
Het |
Sec61a2 |
G |
A |
2: 5,891,363 (GRCm39) |
S56L |
possibly damaging |
Het |
Sel1l |
G |
T |
12: 91,810,033 (GRCm39) |
D26E |
probably benign |
Het |
Slc25a48 |
G |
A |
13: 56,612,758 (GRCm39) |
|
probably benign |
Het |
Tas2r126 |
T |
C |
6: 42,412,241 (GRCm39) |
F258S |
probably benign |
Het |
Tnfrsf13b |
G |
A |
11: 61,032,146 (GRCm39) |
V59I |
possibly damaging |
Het |
Usp6nl |
G |
A |
2: 6,445,879 (GRCm39) |
V619M |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,180,767 (GRCm39) |
I10M |
possibly damaging |
Het |
Vmn2r71 |
A |
G |
7: 85,264,782 (GRCm39) |
D38G |
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 |
|
IGL01813:Pus7
|
APN |
5 |
23,965,302 (GRCm39) |
splice site |
probably benign |
|
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 |
2014-01-21 |