Incidental Mutation 'R4488:Zup1'
ID |
330601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zup1
|
Ensembl Gene |
ENSMUSG00000039531 |
Gene Name |
zinc finger containing ubiquitin peptidase 1 |
Synonyms |
2700019D07Rik, Zufsp |
MMRRC Submission |
041744-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R4488 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33824960 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 174
(T174I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151662
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048222]
[ENSMUST00000218055]
[ENSMUST00000218222]
[ENSMUST00000218275]
[ENSMUST00000218880]
[ENSMUST00000218892]
[ENSMUST00000219457]
[ENSMUST00000219878]
|
AlphaFold |
Q3T9Z9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048222
AA Change: T174I
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037121 Gene: ENSMUSG00000039531 AA Change: T174I
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: T174I
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218222
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218275
AA Change: T174I
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000218880
AA Change: T174I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218892
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219457
AA Change: T174I
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219878
AA Change: T174I
PolyPhen 2
Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.2213 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
95% (38/40) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alkal1 |
A |
T |
1: 6,429,631 (GRCm39) |
Q26L |
probably benign |
Het |
Bltp1 |
A |
T |
3: 37,058,082 (GRCm39) |
Q3224L |
probably null |
Het |
Brox |
A |
G |
1: 183,062,514 (GRCm39) |
L280S |
probably benign |
Het |
Cep41 |
A |
T |
6: 30,655,688 (GRCm39) |
|
probably benign |
Het |
Cryz |
C |
A |
3: 154,324,094 (GRCm39) |
|
probably benign |
Het |
Cyp26c1 |
T |
C |
19: 37,681,658 (GRCm39) |
V487A |
probably benign |
Het |
Dlx6 |
T |
C |
6: 6,867,207 (GRCm39) |
M270T |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,272,182 (GRCm39) |
I273T |
probably damaging |
Het |
Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
Grm6 |
T |
C |
11: 50,750,816 (GRCm39) |
S660P |
probably damaging |
Het |
Hao2 |
T |
A |
3: 98,789,341 (GRCm39) |
I116F |
probably damaging |
Het |
Hcrtr1 |
A |
G |
4: 130,029,556 (GRCm39) |
V175A |
probably benign |
Het |
Homer3 |
G |
A |
8: 70,742,793 (GRCm39) |
|
probably null |
Het |
Kifbp |
A |
G |
10: 62,398,806 (GRCm39) |
|
probably benign |
Het |
Mki67 |
G |
A |
7: 135,299,400 (GRCm39) |
T1878I |
probably benign |
Het |
Ncoa6 |
A |
G |
2: 155,249,396 (GRCm39) |
F1303L |
possibly damaging |
Het |
Ngf |
G |
A |
3: 102,428,015 (GRCm39) |
D255N |
probably damaging |
Het |
Nutf2 |
T |
A |
8: 106,603,059 (GRCm39) |
|
probably null |
Het |
Or52e7 |
T |
C |
7: 104,684,510 (GRCm39) |
F35S |
probably benign |
Het |
Rbm45 |
T |
C |
2: 76,206,740 (GRCm39) |
S251P |
probably damaging |
Het |
Rnaset2b |
A |
G |
17: 7,265,469 (GRCm39) |
Y155C |
probably damaging |
Het |
Rnf122 |
A |
G |
8: 31,618,283 (GRCm39) |
T92A |
probably damaging |
Het |
Rnf220 |
A |
G |
4: 117,347,011 (GRCm39) |
S134P |
probably damaging |
Het |
Shprh |
A |
T |
10: 11,036,215 (GRCm39) |
I351F |
probably benign |
Het |
Smchd1 |
T |
C |
17: 71,714,230 (GRCm39) |
T878A |
probably benign |
Het |
Sulf1 |
G |
T |
1: 12,856,739 (GRCm39) |
|
probably benign |
Het |
Svil |
T |
C |
18: 5,049,067 (GRCm39) |
Y202H |
probably damaging |
Het |
Tek |
A |
G |
4: 94,737,993 (GRCm39) |
D681G |
possibly damaging |
Het |
Tra2a |
A |
G |
6: 49,229,428 (GRCm39) |
|
probably benign |
Het |
Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,799,819 (GRCm39) |
I841N |
probably damaging |
Het |
Zfp949 |
T |
C |
9: 88,452,142 (GRCm39) |
S571P |
probably damaging |
Het |
Zkscan16 |
A |
G |
4: 58,957,431 (GRCm39) |
E571G |
possibly 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 |
|
R2901:Zup1
|
UTSW |
10 |
33,803,608 (GRCm39) |
missense |
probably damaging |
1.00 |
R3813:Zup1
|
UTSW |
10 |
33,816,218 (GRCm39) |
missense |
possibly damaging |
0.63 |
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'- TGGGCTAGTGGTAGTACAAATG -3'
(R):5'- AAGAGTCATCTGAAAGCCTTCC -3'
Sequencing Primer
(F):5'- GCTAGTGGTAGTACAAATGCTCTC -3'
(R):5'- GAGTCATCTGAAAGCCTTCCTAAAG -3'
|
Posted On |
2015-07-21 |