Incidental Mutation 'R1127:Pus7'
ID |
96288 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pus7
|
Ensembl Gene |
ENSMUSG00000057541 |
Gene Name |
pseudouridylate synthase 7 |
Synonyms |
C330017I15Rik |
MMRRC Submission |
039200-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.650)
|
Stock # |
R1127 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 23973793 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Tyrosine
at position 234
(H234Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114588
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000119946]
[ENSMUST00000131992]
[ENSMUST00000148618]
|
AlphaFold |
Q91VU7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000119946
AA Change: H234Y
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000113801 Gene: ENSMUSG00000057541 AA Change: H234Y
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: ENSMUST00000131992
AA Change: H234Y
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000123129 Gene: ENSMUSG00000057541 AA Change: H234Y
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 benign
Transcript: ENSMUST00000148618
AA Change: H234Y
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000114588 Gene: ENSMUSG00000057541 AA Change: H234Y
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195909
|
Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.5%
- 10x: 93.1%
- 20x: 80.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700088E04Rik |
T |
C |
15: 79,019,403 (GRCm39) |
D179G |
probably benign |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,314 (GRCm39) |
E256K |
probably benign |
Het |
Adh7 |
C |
T |
3: 137,927,490 (GRCm39) |
A12V |
probably benign |
Het |
Ankhd1 |
T |
A |
18: 36,767,399 (GRCm39) |
N1179K |
probably damaging |
Het |
Ankrd50 |
T |
C |
3: 38,511,336 (GRCm39) |
T344A |
probably benign |
Het |
Aplf |
T |
C |
6: 87,623,273 (GRCm39) |
T269A |
probably benign |
Het |
Cavin4 |
T |
C |
4: 48,663,637 (GRCm39) |
S6P |
probably damaging |
Het |
Ces2g |
T |
C |
8: 105,694,094 (GRCm39) |
|
probably null |
Het |
Cyp2c66 |
A |
T |
19: 39,151,812 (GRCm39) |
N176Y |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,522,253 (GRCm39) |
D3980V |
probably damaging |
Het |
Drc7 |
G |
T |
8: 95,799,416 (GRCm39) |
E530D |
probably damaging |
Het |
Dst |
A |
G |
1: 34,314,358 (GRCm39) |
T6434A |
probably damaging |
Het |
Dtx3l |
A |
G |
16: 35,759,127 (GRCm39) |
S41P |
possibly damaging |
Het |
Eef1b2 |
G |
A |
1: 63,218,616 (GRCm39) |
|
probably null |
Het |
Eml3 |
C |
T |
19: 8,913,672 (GRCm39) |
T43I |
probably damaging |
Het |
Fam110b |
T |
A |
4: 5,799,434 (GRCm39) |
L284Q |
probably damaging |
Het |
Gpr33 |
A |
C |
12: 52,070,252 (GRCm39) |
H262Q |
probably damaging |
Het |
Igfals |
T |
G |
17: 25,099,455 (GRCm39) |
L182R |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,126,205 (GRCm39) |
F496L |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,569,343 (GRCm39) |
H134Q |
possibly damaging |
Het |
Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
Nxn |
A |
T |
11: 76,164,895 (GRCm39) |
C205* |
probably null |
Het |
Oga |
G |
A |
19: 45,740,594 (GRCm39) |
R914* |
probably null |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or52h9 |
C |
A |
7: 104,202,293 (GRCm39) |
H56N |
possibly damaging |
Het |
Pamr1 |
A |
T |
2: 102,469,698 (GRCm39) |
I415F |
possibly damaging |
Het |
Ppp4r4 |
G |
A |
12: 103,545,327 (GRCm39) |
G200E |
probably damaging |
Het |
Pramel29 |
G |
A |
4: 143,933,694 (GRCm39) |
T471I |
probably damaging |
Het |
Prdm16 |
C |
A |
4: 154,613,256 (GRCm39) |
S57I |
probably damaging |
Het |
Psmd11 |
A |
G |
11: 80,362,410 (GRCm39) |
K157R |
possibly damaging |
Het |
Ptprn2 |
G |
A |
12: 117,175,628 (GRCm39) |
|
probably null |
Het |
Rd3l |
A |
G |
12: 111,946,717 (GRCm39) |
Y20H |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,386,141 (GRCm39) |
D160G |
probably damaging |
Het |
Sycp2 |
C |
T |
2: 178,016,159 (GRCm39) |
E768K |
possibly damaging |
Het |
Tango6 |
T |
C |
8: 107,415,527 (GRCm39) |
V116A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,697,574 (GRCm39) |
|
probably benign |
Het |
Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
Xylb |
T |
C |
9: 119,212,443 (GRCm39) |
I427T |
probably damaging |
Het |
Zc3h7a |
T |
G |
16: 10,956,939 (GRCm39) |
D890A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCAGACAGACTTCAGTCCTACTCC -3'
(R):5'- TCTCAAGCACTAGGCAAGCGTTC -3'
Sequencing Primer
(F):5'- CTCCACATCTGAGATGACTATTGAC -3'
(R):5'- CACTAGGCAAGCGTTCTTGTTG -3'
|
Posted On |
2014-01-05 |