Incidental Mutation 'R2901:Zup1'
| ID |
261471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zup1
|
| Ensembl Gene |
ENSMUSG00000039531 |
| Gene Name |
zinc finger containing ubiquitin peptidase 1 |
| Synonyms |
2700019D07Rik, Zufsp |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33803608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 492
(R492Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048222]
[ENSMUST00000218055]
[ENSMUST00000218275]
[ENSMUST00000218880]
[ENSMUST00000219457]
[ENSMUST00000219878]
|
| AlphaFold |
Q3T9Z9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048222
AA Change: R492Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037121
Gene: ENSMUSG00000039531
AA Change: R492Q
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
2 |
24 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
29 |
52 |
1.13e1 |
SMART |
|
ZnF_C2H2
|
153 |
176 |
2.47e1 |
SMART |
|
ZnF_C2H2
|
192 |
214 |
6.23e-2 |
SMART |
|
coiled coil region
|
236 |
267 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C78
|
334 |
550 |
1.2e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218055
AA Change: R492Q
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218275
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218880
AA Change: R492Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219457
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219878
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219935
|
| Meta Mutation Damage Score |
0.3057 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Nme8 |
A |
T |
13: 19,859,834 (GRCm39) |
V23E |
probably benign |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
|
| Other mutations in Zup1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02510:Zup1
|
APN |
10 |
33,806,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02586:Zup1
|
APN |
10 |
33,811,261 (GRCm39) |
intron |
probably benign |
|
|
IGL03350:Zup1
|
APN |
10 |
33,804,107 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0145:Zup1
|
UTSW |
10 |
33,819,709 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1156:Zup1
|
UTSW |
10 |
33,825,222 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1523:Zup1
|
UTSW |
10 |
33,803,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1769:Zup1
|
UTSW |
10 |
33,811,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1802:Zup1
|
UTSW |
10 |
33,819,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2013:Zup1
|
UTSW |
10 |
33,805,820 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2014:Zup1
|
UTSW |
10 |
33,805,820 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2015:Zup1
|
UTSW |
10 |
33,805,820 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R2017:Zup1
|
UTSW |
10 |
33,803,460 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2342:Zup1
|
UTSW |
10 |
33,804,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Zup1
|
UTSW |
10 |
33,804,059 (GRCm39) |
missense |
probably benign |
|
|
R3813:Zup1
|
UTSW |
10 |
33,816,218 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4488:Zup1
|
UTSW |
10 |
33,824,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Zup1
|
UTSW |
10 |
33,824,980 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4883:Zup1
|
UTSW |
10 |
33,825,038 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4926:Zup1
|
UTSW |
10 |
33,825,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Zup1
|
UTSW |
10 |
33,825,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5373:Zup1
|
UTSW |
10 |
33,803,462 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5374:Zup1
|
UTSW |
10 |
33,803,462 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5924:Zup1
|
UTSW |
10 |
33,803,543 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5929:Zup1
|
UTSW |
10 |
33,825,043 (GRCm39) |
nonsense |
probably null |
|
|
R5941:Zup1
|
UTSW |
10 |
33,825,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6337:Zup1
|
UTSW |
10 |
33,825,252 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6663:Zup1
|
UTSW |
10 |
33,825,431 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6753:Zup1
|
UTSW |
10 |
33,804,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Zup1
|
UTSW |
10 |
33,806,151 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7772:Zup1
|
UTSW |
10 |
33,797,698 (GRCm39) |
splice site |
probably null |
|
|
R7836:Zup1
|
UTSW |
10 |
33,795,315 (GRCm39) |
missense |
unknown |
|
|
R7919:Zup1
|
UTSW |
10 |
33,825,108 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8054:Zup1
|
UTSW |
10 |
33,816,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8943:Zup1
|
UTSW |
10 |
33,795,301 (GRCm39) |
makesense |
probably null |
|
|
R9433:Zup1
|
UTSW |
10 |
33,795,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Zup1
|
UTSW |
10 |
33,819,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGAAAGAACACCCTCTACTG -3'
(R):5'- TGCACAGTTTCTAGTTCACTGC -3'
Sequencing Primer
(F):5'- ACTGCTACTATCTGGTACTGCTTATG -3'
(R):5'- TGCCCTGTTGTCACTTATGCTAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation