Incidental Mutation 'R6663:Zup1'
ID |
526876 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zup1
|
Ensembl Gene |
ENSMUSG00000039531 |
Gene Name |
zinc finger containing ubiquitin peptidase 1 |
Synonyms |
2700019D07Rik, Zufsp |
MMRRC Submission |
044783-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R6663 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 33825431 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 17
(M17T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151455
(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: M17T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000037121 Gene: ENSMUSG00000039531 AA Change: M17T
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: M17T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218222
AA Change: M17T
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218275
AA Change: M17T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218880
AA Change: M17T
PolyPhen 2
Score 0.392 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218892
AA Change: M17T
PolyPhen 2
Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219457
AA Change: M17T
PolyPhen 2
Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219878
AA Change: M17T
PolyPhen 2
Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.6028 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
A |
G |
5: 90,411,923 (GRCm39) |
S1314P |
probably damaging |
Het |
Btbd3 |
T |
A |
2: 138,121,003 (GRCm39) |
I59K |
probably benign |
Het |
Clcn2 |
A |
G |
16: 20,521,995 (GRCm39) |
*865R |
probably null |
Het |
Col22a1 |
T |
C |
15: 71,691,908 (GRCm39) |
Q749R |
unknown |
Het |
Cpsf2 |
T |
C |
12: 101,965,852 (GRCm39) |
Y606H |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,823,599 (GRCm39) |
V154A |
probably benign |
Het |
Cux1 |
T |
A |
5: 136,514,701 (GRCm39) |
E23V |
probably damaging |
Het |
Cyp2j9 |
C |
A |
4: 96,467,679 (GRCm39) |
W269L |
probably benign |
Het |
Dbf4 |
T |
C |
5: 8,453,184 (GRCm39) |
M273V |
probably benign |
Het |
Dnhd1 |
A |
G |
7: 105,334,899 (GRCm39) |
|
probably null |
Het |
Fezf1 |
A |
G |
6: 23,247,527 (GRCm39) |
S183P |
probably damaging |
Het |
Irx2 |
A |
G |
13: 72,777,248 (GRCm39) |
Y23C |
probably damaging |
Het |
Itga1 |
A |
T |
13: 115,110,641 (GRCm39) |
N983K |
probably benign |
Het |
Kifc1 |
A |
G |
17: 34,100,430 (GRCm39) |
|
probably benign |
Het |
Lrrc14b |
T |
C |
13: 74,509,480 (GRCm39) |
N309S |
probably damaging |
Het |
Lyst |
A |
T |
13: 13,838,701 (GRCm39) |
|
probably null |
Het |
Map1b |
T |
C |
13: 99,566,530 (GRCm39) |
T2064A |
unknown |
Het |
Mark3 |
T |
A |
12: 111,541,517 (GRCm39) |
N11K |
probably benign |
Het |
Med6 |
T |
A |
12: 81,628,649 (GRCm39) |
D80V |
possibly damaging |
Het |
Mfhas1 |
A |
G |
8: 36,056,272 (GRCm39) |
E249G |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,977,417 (GRCm39) |
I1256M |
probably benign |
Het |
Nkx2-9 |
G |
T |
12: 56,658,723 (GRCm39) |
R164S |
probably benign |
Het |
Or4p20 |
T |
A |
2: 88,253,694 (GRCm39) |
N225I |
probably benign |
Het |
Phf10 |
T |
C |
17: 15,179,774 (GRCm39) |
D33G |
probably null |
Het |
Plekha5 |
A |
G |
6: 140,523,016 (GRCm39) |
M719V |
probably damaging |
Het |
Pln |
A |
G |
10: 53,219,792 (GRCm39) |
|
probably benign |
Het |
Prg4 |
G |
A |
1: 150,330,852 (GRCm39) |
|
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,138,112 (GRCm39) |
L99P |
probably damaging |
Het |
Tbccd1 |
AT |
ATGT |
16: 22,652,778 (GRCm39) |
|
probably null |
Het |
Ube2j1 |
C |
T |
4: 33,045,198 (GRCm39) |
S157L |
probably damaging |
Het |
Zfp462 |
A |
G |
4: 55,008,933 (GRCm39) |
T300A |
possibly damaging |
Het |
Zfp668 |
G |
A |
7: 127,466,941 (GRCm39) |
R212C |
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 |
|
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 |
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 |
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'- CGGTCTGAATGTCCATATTGCAC -3'
(R):5'- CCTGTAGCTAGGCTTTCTTAGG -3'
Sequencing Primer
(F):5'- GAATGTCCATATTGCACTGCAGC -3'
(R):5'- CAGTGAATTTTTCTTTGCCAAAGC -3'
|
Posted On |
2018-07-23 |