Incidental Mutation 'R4431:Pus7'
ID |
328605 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus7
|
Ensembl Gene |
ENSMUSG00000057541 |
Gene Name |
pseudouridylate synthase 7 |
Synonyms |
C330017I15Rik |
MMRRC Submission |
041146-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.650)
|
Stock # |
R4431 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 23951487 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 521
(Y521H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123129
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
AlphaFold |
Q91VU7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119946
AA Change: Y521H
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000113801 Gene: ENSMUSG00000057541 AA Change: Y521H
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
Pfam:TruD
|
246 |
641 |
9e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129848
|
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
AA Change: Y521H
PolyPhen 2
Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000123129 Gene: ENSMUSG00000057541 AA Change: Y521H
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: Y527H
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000114588 Gene: ENSMUSG00000057541 AA Change: Y527H
Domain | Start | End | E-Value | Type |
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
Pfam:TruD
|
251 |
647 |
6.3e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148921
|
Meta Mutation Damage Score |
0.0873 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
2510039O18Rik |
T |
C |
4: 148,026,022 (GRCm39) |
S181P |
probably benign |
Het |
4930522L14Rik |
A |
T |
5: 109,884,440 (GRCm39) |
C473S |
possibly damaging |
Het |
4930523C07Rik |
A |
T |
1: 159,872,149 (GRCm39) |
|
noncoding transcript |
Het |
Aak1 |
A |
G |
6: 86,963,300 (GRCm39) |
K910R |
unknown |
Het |
Abca2 |
A |
G |
2: 25,332,864 (GRCm39) |
D1521G |
probably benign |
Het |
Adamts20 |
C |
A |
15: 94,241,924 (GRCm39) |
D695Y |
probably damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,104,905 (GRCm39) |
N533S |
probably damaging |
Het |
Bspry |
T |
A |
4: 62,400,904 (GRCm39) |
I132N |
possibly damaging |
Het |
Cfap300 |
A |
G |
9: 8,027,178 (GRCm39) |
V120A |
probably damaging |
Het |
Cfh |
T |
C |
1: 140,064,004 (GRCm39) |
Y424C |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,085,709 (GRCm39) |
R1642G |
possibly damaging |
Het |
Chrm2 |
A |
G |
6: 36,501,097 (GRCm39) |
D318G |
probably benign |
Het |
Chrna4 |
A |
G |
2: 180,670,413 (GRCm39) |
S448P |
probably damaging |
Het |
Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
Dock8 |
T |
C |
19: 25,042,754 (GRCm39) |
V112A |
probably benign |
Het |
Fbxo42 |
C |
A |
4: 140,927,861 (GRCm39) |
R714S |
probably damaging |
Het |
Fmo1 |
G |
A |
1: 162,661,281 (GRCm39) |
A334V |
possibly damaging |
Het |
Gpr68 |
A |
T |
12: 100,865,650 (GRCm39) |
|
probably benign |
Het |
Gramd4 |
A |
G |
15: 86,014,361 (GRCm39) |
K345R |
probably damaging |
Het |
Gtpbp1 |
T |
G |
15: 79,600,398 (GRCm39) |
S444A |
probably damaging |
Het |
Ints12 |
T |
C |
3: 132,808,242 (GRCm39) |
Y207H |
probably damaging |
Het |
Kat2b-ps |
A |
T |
5: 93,540,443 (GRCm39) |
|
noncoding transcript |
Het |
Klhl25 |
T |
A |
7: 75,515,162 (GRCm39) |
F23I |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,097,274 (GRCm39) |
I1590T |
probably damaging |
Het |
Lhfpl4 |
A |
G |
6: 113,170,805 (GRCm39) |
I127T |
possibly damaging |
Het |
Lrrc71 |
A |
G |
3: 87,650,143 (GRCm39) |
S286P |
possibly damaging |
Het |
Man1c1 |
A |
T |
4: 134,430,329 (GRCm39) |
V151D |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,350,310 (GRCm39) |
R36Q |
possibly damaging |
Het |
Nuggc |
T |
A |
14: 65,848,659 (GRCm39) |
W187R |
probably benign |
Het |
Or4a71 |
A |
G |
2: 89,357,987 (GRCm39) |
Y256H |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,593,538 (GRCm39) |
T1525I |
probably damaging |
Het |
Pomp |
A |
G |
5: 147,812,289 (GRCm39) |
E125G |
probably damaging |
Het |
Ptar1 |
G |
T |
19: 23,671,695 (GRCm39) |
G33C |
probably damaging |
Het |
Ptpn3 |
A |
G |
4: 57,235,355 (GRCm39) |
S335P |
probably damaging |
Het |
Shank1 |
C |
T |
7: 43,969,076 (GRCm39) |
R324* |
probably null |
Het |
Slc12a3 |
A |
T |
8: 95,069,713 (GRCm39) |
I541F |
probably damaging |
Het |
Slc12a9 |
G |
A |
5: 137,319,775 (GRCm39) |
P580L |
probably benign |
Het |
Spz1 |
A |
G |
13: 92,711,837 (GRCm39) |
L213P |
probably damaging |
Het |
Strn |
A |
G |
17: 79,043,891 (GRCm39) |
V9A |
probably damaging |
Het |
Sytl5 |
A |
T |
X: 9,826,262 (GRCm39) |
N412Y |
probably damaging |
Het |
Tert |
T |
A |
13: 73,775,594 (GRCm39) |
F115Y |
probably damaging |
Het |
Tmem67 |
T |
A |
4: 12,051,473 (GRCm39) |
N785I |
possibly damaging |
Het |
Trf |
T |
C |
9: 103,089,075 (GRCm39) |
N243S |
possibly damaging |
Het |
Ttc3 |
T |
C |
16: 94,211,817 (GRCm39) |
|
probably null |
Het |
Vmn2r22 |
T |
C |
6: 123,614,817 (GRCm39) |
T258A |
possibly damaging |
Het |
Vps13b |
A |
C |
15: 35,770,899 (GRCm39) |
Q2114P |
probably damaging |
Het |
Wdfy1 |
T |
A |
1: 79,691,583 (GRCm39) |
R275* |
probably null |
Het |
Wnt2b |
A |
G |
3: 104,860,256 (GRCm39) |
L217S |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTAAGATTAGCCTTCAAGTACCGC -3'
(R):5'- AGTACTGCTGGGAAGTCTTCTG -3'
Sequencing Primer
(F):5'- AAGTACCGCTTCCCACTCTG -3'
(R):5'- CACGGTTCCTCAGCTAATTAAAG -3'
|
Posted On |
2015-07-21 |