Incidental Mutation 'IGL02586:Zup1'
ID |
299567 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02586
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to T
at 33811261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151477
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048222]
[ENSMUST00000218055]
[ENSMUST00000218275]
[ENSMUST00000218880]
[ENSMUST00000219457]
[ENSMUST00000219878]
|
AlphaFold |
Q3T9Z9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048222
|
SMART Domains |
Protein: ENSMUSP00000037121 Gene: ENSMUSG00000039531
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 benign
Transcript: ENSMUST00000218055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218275
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218880
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219878
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219935
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,243,983 (GRCm39) |
I1949V |
possibly damaging |
Het |
Anapc2 |
T |
A |
2: 25,175,108 (GRCm39) |
M742K |
probably benign |
Het |
Arhgef12 |
T |
A |
9: 42,917,200 (GRCm39) |
K380* |
probably null |
Het |
Armc1 |
G |
T |
3: 19,188,192 (GRCm39) |
|
probably benign |
Het |
Bltp1 |
G |
A |
3: 37,098,757 (GRCm39) |
W4626* |
probably null |
Het |
Diaph3 |
A |
T |
14: 87,223,512 (GRCm39) |
L323* |
probably null |
Het |
Fbxo11 |
C |
T |
17: 88,318,711 (GRCm39) |
|
probably benign |
Het |
Flywch1 |
C |
T |
17: 23,974,676 (GRCm39) |
A655T |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,285,160 (GRCm39) |
D1327G |
probably damaging |
Het |
Ggact |
G |
A |
14: 123,128,942 (GRCm39) |
T91I |
possibly damaging |
Het |
Gm10250 |
T |
A |
15: 5,150,412 (GRCm39) |
|
probably benign |
Het |
Gsdmc4 |
T |
C |
15: 63,765,641 (GRCm39) |
S303G |
probably damaging |
Het |
Helt |
T |
C |
8: 46,746,276 (GRCm39) |
E15G |
probably damaging |
Het |
Kcnf1 |
T |
A |
12: 17,226,144 (GRCm39) |
S26C |
probably benign |
Het |
Lilra6 |
T |
C |
7: 3,911,819 (GRCm39) |
T280A |
probably benign |
Het |
Lipo3 |
A |
T |
19: 33,559,539 (GRCm39) |
D110E |
possibly damaging |
Het |
Mepe |
C |
A |
5: 104,485,316 (GRCm39) |
T152N |
probably benign |
Het |
Nr2f1 |
C |
A |
13: 78,343,275 (GRCm39) |
|
probably benign |
Het |
Or5ak24 |
T |
C |
2: 85,260,810 (GRCm39) |
D121G |
possibly damaging |
Het |
Or6c214 |
A |
G |
10: 129,590,524 (GRCm39) |
I265T |
possibly damaging |
Het |
Peg3 |
T |
C |
7: 6,713,068 (GRCm39) |
D718G |
probably benign |
Het |
Phf2 |
A |
T |
13: 48,967,334 (GRCm39) |
|
probably benign |
Het |
Pigc |
A |
T |
1: 161,798,503 (GRCm39) |
I162F |
probably benign |
Het |
Raf1 |
A |
G |
6: 115,597,267 (GRCm39) |
L11P |
probably damaging |
Het |
Rlf |
T |
C |
4: 121,007,261 (GRCm39) |
Y573C |
probably damaging |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Rnf149 |
T |
G |
1: 39,604,296 (GRCm39) |
Q189P |
probably benign |
Het |
Slc11a1 |
T |
C |
1: 74,424,291 (GRCm39) |
|
probably benign |
Het |
Slc22a12 |
C |
T |
19: 6,590,487 (GRCm39) |
M234I |
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,814,167 (GRCm39) |
I455F |
probably benign |
Het |
Slc35f5 |
T |
G |
1: 125,512,273 (GRCm39) |
L358V |
probably damaging |
Het |
Slc47a1 |
A |
T |
11: 61,235,147 (GRCm39) |
V562D |
probably benign |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Ushbp1 |
T |
C |
8: 71,841,394 (GRCm39) |
|
probably benign |
Het |
Vmn1r88 |
T |
A |
7: 12,911,735 (GRCm39) |
Y30* |
probably null |
Het |
Vmn2r27 |
A |
T |
6: 124,201,434 (GRCm39) |
Y174* |
probably null |
Het |
Wwox |
T |
C |
8: 115,438,947 (GRCm39) |
Y338H |
possibly damaging |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |