Incidental Mutation 'IGL02510:Zup1'
| ID |
296522 |
| 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 # |
IGL02510
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
33795138-33827265 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 33806150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151662
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048222]
[ENSMUST00000048222]
[ENSMUST00000048222]
[ENSMUST00000218055]
[ENSMUST00000218055]
[ENSMUST00000218055]
[ENSMUST00000218275]
[ENSMUST00000218880]
[ENSMUST00000218880]
[ENSMUST00000218880]
[ENSMUST00000219457]
[ENSMUST00000219878]
|
| AlphaFold |
Q3T9Z9 |
| Predicted Effect |
probably null
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 null
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 null
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 null
Transcript: ENSMUST00000218055
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218055
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218055
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218275
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218880
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000218880
|
| Predicted Effect |
probably null
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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts4 |
G |
A |
1: 171,078,959 (GRCm39) |
S193N |
probably benign |
Het |
| Arrdc1 |
C |
A |
2: 24,825,112 (GRCm39) |
V16F |
probably damaging |
Het |
| Bhmt1b |
A |
G |
18: 87,775,653 (GRCm39) |
Q392R |
probably benign |
Het |
| Bsx |
A |
T |
9: 40,785,517 (GRCm39) |
Q15L |
possibly damaging |
Het |
| Casp8ap2 |
A |
G |
4: 32,639,704 (GRCm39) |
T253A |
probably benign |
Het |
| Cdkl3 |
T |
C |
11: 51,902,097 (GRCm39) |
L102P |
probably damaging |
Het |
| Cgnl1 |
G |
T |
9: 71,632,639 (GRCm39) |
N237K |
probably benign |
Het |
| Cldn14 |
T |
A |
16: 93,716,844 (GRCm39) |
M1L |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,516,398 (GRCm39) |
R171C |
unknown |
Het |
| Col7a1 |
C |
A |
9: 108,802,299 (GRCm39) |
|
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Dhrs2 |
G |
A |
14: 55,473,532 (GRCm39) |
V64M |
probably damaging |
Het |
| Disp3 |
G |
A |
4: 148,337,158 (GRCm39) |
H886Y |
probably benign |
Het |
| Dst |
G |
A |
1: 34,268,332 (GRCm39) |
|
probably null |
Het |
| Fnbp4 |
T |
C |
2: 90,581,819 (GRCm39) |
V215A |
probably benign |
Het |
| Fzd9 |
A |
G |
5: 135,278,469 (GRCm39) |
L472P |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,319,973 (GRCm39) |
R15Q |
possibly damaging |
Het |
| Htra2 |
A |
G |
6: 83,028,592 (GRCm39) |
V412A |
probably damaging |
Het |
| Ift80 |
A |
G |
3: 68,805,876 (GRCm39) |
F722S |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,723,154 (GRCm39) |
T741A |
probably benign |
Het |
| Kl |
A |
C |
5: 150,912,466 (GRCm39) |
E738D |
probably damaging |
Het |
| Klra4 |
T |
A |
6: 130,036,506 (GRCm39) |
I178L |
probably damaging |
Het |
| Klra9 |
T |
C |
6: 130,168,185 (GRCm39) |
E27G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,957,125 (GRCm39) |
Y2145H |
probably benign |
Het |
| Mbd5 |
T |
A |
2: 49,147,041 (GRCm39) |
M417K |
probably benign |
Het |
| Med31 |
C |
T |
11: 72,102,882 (GRCm39) |
M75I |
probably benign |
Het |
| Mpeg1 |
A |
T |
19: 12,438,788 (GRCm39) |
D82V |
probably damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,652 (GRCm39) |
Y439H |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,831 (GRCm39) |
G253E |
probably damaging |
Het |
| Or1j15 |
T |
C |
2: 36,458,693 (GRCm39) |
S28P |
possibly damaging |
Het |
| Or2av9 |
T |
C |
11: 58,381,365 (GRCm39) |
Y72C |
probably damaging |
Het |
| Or5p64 |
T |
A |
7: 107,855,348 (GRCm39) |
|
probably benign |
Het |
| Prtg |
G |
A |
9: 72,798,151 (GRCm39) |
V706M |
probably damaging |
Het |
| Sfxn2 |
G |
T |
19: 46,576,711 (GRCm39) |
A186S |
probably benign |
Het |
| Slc12a5 |
A |
T |
2: 164,824,728 (GRCm39) |
|
probably benign |
Het |
| Slc7a3 |
T |
C |
X: 100,126,439 (GRCm39) |
E222G |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,826 (GRCm39) |
H911Q |
probably benign |
Het |
| Sult3a2 |
A |
T |
10: 33,642,435 (GRCm39) |
N289K |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,622,945 (GRCm39) |
|
probably benign |
Het |
| Tchh |
A |
G |
3: 93,351,385 (GRCm39) |
E275G |
unknown |
Het |
| Tectb |
A |
T |
19: 55,179,943 (GRCm39) |
N263I |
probably damaging |
Het |
| Tsga10 |
C |
T |
1: 37,800,066 (GRCm39) |
R608Q |
possibly damaging |
Het |
| Ttyh3 |
A |
G |
5: 140,615,219 (GRCm39) |
Y390H |
probably damaging |
Het |
| Utf1 |
C |
A |
7: 139,523,929 (GRCm39) |
S48* |
probably null |
Het |
| Zfp358 |
G |
A |
8: 3,546,786 (GRCm39) |
G456D |
probably benign |
Het |
|
| Other mutations in Zup1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
Incidental Mutation