Incidental Mutation 'R3813:Zup1'
ID |
274155 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zup1
|
Ensembl Gene |
ENSMUSG00000039531 |
Gene Name |
zinc finger containing ubiquitin peptidase 1 |
Synonyms |
2700019D07Rik, Zufsp |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R3813 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33816218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 242
(E242G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151455
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048222]
[ENSMUST00000218055]
[ENSMUST00000218275]
[ENSMUST00000218880]
[ENSMUST00000219457]
[ENSMUST00000219878]
|
AlphaFold |
Q3T9Z9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048222
AA Change: E242G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000037121 Gene: ENSMUSG00000039531 AA Change: E242G
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 |
possibly damaging
Transcript: ENSMUST00000218055
AA Change: E242G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218275
AA Change: E242G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218880
AA Change: E242G
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219457
AA Change: E242G
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219878
|
Meta Mutation Damage Score |
0.1143 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts3 |
T |
C |
5: 89,825,785 (GRCm39) |
D1018G |
possibly damaging |
Het |
Adgrg1 |
T |
A |
8: 95,738,193 (GRCm39) |
L562Q |
probably benign |
Het |
Ankrd11 |
T |
C |
8: 123,618,117 (GRCm39) |
T1891A |
probably benign |
Het |
Arid2 |
A |
G |
15: 96,267,831 (GRCm39) |
N648S |
probably benign |
Het |
B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
Cacna1s |
A |
T |
1: 136,013,085 (GRCm39) |
I312F |
probably damaging |
Het |
Cenpj |
A |
G |
14: 56,790,679 (GRCm39) |
S457P |
probably benign |
Het |
Cep120 |
G |
A |
18: 53,873,284 (GRCm39) |
|
probably benign |
Het |
Cfap70 |
T |
A |
14: 20,471,190 (GRCm39) |
I493L |
possibly damaging |
Het |
Cfap97d1 |
A |
T |
11: 101,882,314 (GRCm39) |
R106S |
probably benign |
Het |
Csmd3 |
T |
C |
15: 48,655,209 (GRCm39) |
D31G |
possibly damaging |
Het |
Cstf3 |
T |
C |
2: 104,439,466 (GRCm39) |
Y54H |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,299,136 (GRCm39) |
Y3179F |
probably damaging |
Het |
Cyp2s1 |
C |
T |
7: 25,505,291 (GRCm39) |
|
probably null |
Het |
Dll4 |
C |
A |
2: 119,161,510 (GRCm39) |
T364N |
possibly damaging |
Het |
Doc2g |
C |
T |
19: 4,054,466 (GRCm39) |
|
probably null |
Het |
Etl4 |
A |
G |
2: 20,793,246 (GRCm39) |
E657G |
probably damaging |
Het |
Fhdc1 |
A |
G |
3: 84,371,577 (GRCm39) |
|
probably null |
Het |
Fndc1 |
T |
C |
17: 7,992,154 (GRCm39) |
H514R |
unknown |
Het |
Gpat3 |
A |
G |
5: 101,039,505 (GRCm39) |
|
probably benign |
Het |
H2-Q4 |
A |
G |
17: 35,602,071 (GRCm39) |
H311R |
possibly damaging |
Het |
Hipk4 |
T |
C |
7: 27,223,372 (GRCm39) |
L144S |
probably damaging |
Het |
Hspa4 |
G |
A |
11: 53,161,806 (GRCm39) |
P449S |
probably benign |
Het |
Kif7 |
A |
G |
7: 79,363,638 (GRCm39) |
V90A |
probably damaging |
Het |
Klhl38 |
T |
C |
15: 58,185,953 (GRCm39) |
I259V |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,080,503 (GRCm39) |
E414D |
probably damaging |
Het |
Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,294,923 (GRCm39) |
P3465L |
probably damaging |
Het |
Lrriq1 |
T |
C |
10: 103,051,972 (GRCm39) |
E260G |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,268,560 (GRCm39) |
S4689P |
probably damaging |
Het |
Manba |
G |
A |
3: 135,269,023 (GRCm39) |
E643K |
possibly damaging |
Het |
Mc3r |
T |
A |
2: 172,090,799 (GRCm39) |
L7Q |
probably benign |
Het |
Mdga1 |
G |
A |
17: 30,057,453 (GRCm39) |
P788S |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,105 (GRCm39) |
F13S |
probably damaging |
Het |
Or6c70 |
T |
A |
10: 129,709,855 (GRCm39) |
Y257F |
probably damaging |
Het |
Pcdh12 |
G |
A |
18: 38,416,667 (GRCm39) |
R153* |
probably null |
Het |
Plk3 |
T |
C |
4: 116,990,647 (GRCm39) |
Y89C |
probably damaging |
Het |
Prss41 |
G |
A |
17: 24,056,596 (GRCm39) |
R160* |
probably null |
Het |
Rae1 |
T |
A |
2: 172,848,666 (GRCm39) |
|
probably benign |
Het |
Rbm17 |
T |
A |
2: 11,600,246 (GRCm39) |
|
probably benign |
Het |
Recql4 |
A |
T |
15: 76,588,694 (GRCm39) |
M1039K |
possibly damaging |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Slit3 |
A |
G |
11: 35,566,806 (GRCm39) |
Y1026C |
probably damaging |
Het |
Tbl2 |
T |
A |
5: 135,185,375 (GRCm39) |
|
probably null |
Het |
Tex2 |
G |
A |
11: 106,402,770 (GRCm39) |
T1034I |
unknown |
Het |
Tmem241 |
A |
T |
18: 12,200,167 (GRCm39) |
|
probably benign |
Het |
Tmtc1 |
T |
C |
6: 148,256,389 (GRCm39) |
|
probably benign |
Het |
Trappc9 |
A |
T |
15: 72,930,242 (GRCm39) |
I38N |
probably damaging |
Het |
Trmt1 |
T |
A |
8: 85,421,846 (GRCm39) |
|
probably benign |
Het |
Vps37d |
G |
A |
5: 135,103,304 (GRCm39) |
Q113* |
probably null |
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 |
|
R2901:Zup1
|
UTSW |
10 |
33,803,608 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- CTGTGAACCTTAGCTTTTAATGGC -3'
(R):5'- AGTTGTTTTCAGAGACACCAATGAC -3'
Sequencing Primer
(F):5'- GAACCTTAGCTTTTAATGGCAGACCC -3'
(R):5'- TTTTCAGAGACACCAATGACAAGAG -3'
|
Posted On |
2015-04-02 |