Incidental Mutation 'R7540:Pus7'
| ID |
583834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pus7
|
| Ensembl Gene |
ENSMUSG00000057541 |
| Gene Name |
pseudouridylate synthase 7 |
| Synonyms |
C330017I15Rik |
| MMRRC Submission |
045612-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.650)
|
| Stock # |
R7540 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
23945646-23988709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23965244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 304
(T304I)
|
| 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: T298I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113801
Gene: ENSMUSG00000057541
AA Change: T298I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
77 |
99 |
N/A |
INTRINSIC |
|
Pfam:TruD
|
246 |
641 |
9e-69 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131404
AA Change: T35I
PolyPhen 2
Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000122033
Gene: ENSMUSG00000057541
AA Change: T35I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TruD
|
1 |
184 |
3e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131992
AA Change: T298I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000123129
Gene: ENSMUSG00000057541
AA Change: T298I
| 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: T304I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114588
Gene: ENSMUSG00000057541
AA Change: T304I
| 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 |
|
| Meta Mutation Damage Score |
0.6874 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
T |
C |
7: 103,708,470 (GRCm39) |
E113G |
probably damaging |
Het |
| Adamts8 |
A |
G |
9: 30,870,360 (GRCm39) |
E650G |
probably damaging |
Het |
| Adgrg7 |
G |
A |
16: 56,570,792 (GRCm39) |
T412M |
probably damaging |
Het |
| Ank2 |
C |
T |
3: 126,781,808 (GRCm39) |
V7I |
possibly damaging |
Het |
| Bpifb1 |
G |
A |
2: 154,055,031 (GRCm39) |
V308M |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,513,220 (GRCm39) |
S1476P |
probably benign |
Het |
| Dgkb |
A |
T |
12: 38,031,789 (GRCm39) |
|
probably benign |
Het |
| Fmn1 |
A |
G |
2: 113,359,655 (GRCm39) |
|
probably null |
Het |
| Foxb1 |
G |
A |
9: 69,667,141 (GRCm39) |
Q130* |
probably null |
Het |
| Gemin5 |
C |
T |
11: 58,021,228 (GRCm39) |
|
probably null |
Het |
| Ghr |
T |
A |
15: 3,349,396 (GRCm39) |
D594V |
possibly damaging |
Het |
| Gm10272 |
A |
C |
10: 77,542,460 (GRCm39) |
M1L |
unknown |
Het |
| Gpr161 |
G |
A |
1: 165,146,404 (GRCm39) |
V447M |
probably damaging |
Het |
| Hspg2 |
T |
A |
4: 137,268,751 (GRCm39) |
S2157T |
possibly damaging |
Het |
| Irs1 |
A |
G |
1: 82,265,723 (GRCm39) |
V831A |
not run |
Het |
| Itga8 |
T |
A |
2: 12,115,848 (GRCm39) |
I1014L |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,213,536 (GRCm39) |
S321R |
possibly damaging |
Het |
| Kctd19 |
G |
T |
8: 106,113,567 (GRCm39) |
P702Q |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,047,559 (GRCm39) |
D739N |
probably damaging |
Het |
| Mboat4 |
T |
A |
8: 34,591,178 (GRCm39) |
L205Q |
probably damaging |
Het |
| Meis3 |
C |
A |
7: 15,911,418 (GRCm39) |
Y38* |
probably null |
Het |
| Mroh7 |
G |
T |
4: 106,577,595 (GRCm39) |
T361K |
possibly damaging |
Het |
| Msantd5f2 |
C |
T |
4: 73,586,648 (GRCm39) |
|
probably benign |
Het |
| Myl6b |
T |
A |
10: 128,332,149 (GRCm39) |
K106* |
probably null |
Het |
| Naaa |
T |
A |
5: 92,411,583 (GRCm39) |
T241S |
probably benign |
Het |
| Neurog3 |
T |
G |
10: 61,969,756 (GRCm39) |
I172S |
probably benign |
Het |
| Nub1 |
T |
G |
5: 24,906,527 (GRCm39) |
I351R |
probably damaging |
Het |
| Or2t47 |
C |
A |
11: 58,442,457 (GRCm39) |
V203L |
possibly damaging |
Het |
| Or3a1c |
A |
T |
11: 74,046,414 (GRCm39) |
R145W |
probably benign |
Het |
| Or6c207 |
A |
T |
10: 129,105,003 (GRCm39) |
F63Y |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,667,944 (GRCm39) |
K18E |
probably damaging |
Het |
| Pcdh8 |
A |
T |
14: 80,008,543 (GRCm39) |
W7R |
probably benign |
Het |
| Pcsk7 |
G |
T |
9: 45,838,971 (GRCm39) |
|
probably null |
Het |
| Plin4 |
G |
A |
17: 56,411,883 (GRCm39) |
T716I |
probably damaging |
Het |
| Prkcb |
G |
A |
7: 122,167,357 (GRCm39) |
V356I |
probably damaging |
Het |
| Rmnd1 |
A |
G |
10: 4,353,989 (GRCm39) |
V402A |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,181,346 (GRCm39) |
E329G |
probably damaging |
Het |
| Sytl3 |
T |
C |
17: 6,949,346 (GRCm39) |
|
probably benign |
Het |
| Tg |
A |
G |
15: 66,561,776 (GRCm39) |
I1087V |
probably benign |
Het |
| Tmco1 |
A |
G |
1: 167,153,572 (GRCm39) |
T162A |
|
Het |
| Tti1 |
G |
A |
2: 157,849,916 (GRCm39) |
T441I |
probably benign |
Het |
| Tubgcp6 |
G |
T |
15: 88,986,526 (GRCm39) |
Q1366K |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,399 (GRCm39) |
K265R |
probably benign |
Het |
| Zdhhc8 |
A |
G |
16: 18,045,674 (GRCm39) |
V209A |
probably damaging |
Het |
| Zfp160 |
T |
A |
17: 21,245,922 (GRCm39) |
Y157* |
probably null |
Het |
| Zfp423 |
A |
T |
8: 88,414,695 (GRCm39) |
C1208S |
possibly damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,315,450 (GRCm39) |
V1342E |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,942,550 (GRCm39) |
C613S |
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 |
|
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 |
|
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'- CTGTTTCCTAGGTGAATGTTAAAGGAC -3'
(R):5'- AAAGGCTCTGACTCAAGCCC -3'
Sequencing Primer
(F):5'- TTTCTGAGTCCAATCCAAAGGAGG -3'
(R):5'- ACTCAAGCCCTGCCGAGAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation