Incidental Mutation 'IGL00088:Usp42'
| ID |
1601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143702897 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 575
(S575P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053287
AA Change: S575P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: S575P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
65 |
77 |
N/A |
INTRINSIC |
|
Pfam:UCH
|
109 |
408 |
1.4e-46 |
PFAM |
|
Pfam:UCH_1
|
110 |
391 |
1.4e-18 |
PFAM |
|
low complexity region
|
470 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
567 |
579 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
645 |
N/A |
INTRINSIC |
|
low complexity region
|
954 |
962 |
N/A |
INTRINSIC |
|
low complexity region
|
1016 |
1031 |
N/A |
INTRINSIC |
|
low complexity region
|
1201 |
1219 |
N/A |
INTRINSIC |
|
low complexity region
|
1239 |
1255 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129606
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155408
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit fecundity and behavioral abnormalities, hyperactivity, increased T cell number, abnormal lens morphology, and cataracts. Males display oligozoospermia and testis degeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
A |
G |
18: 36,798,512 (GRCm39) |
|
probably benign |
Het |
| Anpep |
A |
G |
7: 79,475,484 (GRCm39) |
V879A |
possibly damaging |
Het |
| Asb13 |
T |
G |
13: 3,693,476 (GRCm39) |
V78G |
probably null |
Het |
| Atad2b |
A |
G |
12: 5,074,593 (GRCm39) |
R1051G |
probably damaging |
Het |
| Bdp1 |
T |
C |
13: 100,235,018 (GRCm39) |
Y192C |
probably damaging |
Het |
| C1ql2 |
G |
T |
1: 120,269,399 (GRCm39) |
G185C |
probably damaging |
Het |
| Catsperg2 |
A |
G |
7: 29,404,829 (GRCm39) |
S745P |
possibly damaging |
Het |
| Col19a1 |
A |
T |
1: 24,600,387 (GRCm39) |
S52T |
unknown |
Het |
| Col4a2 |
G |
T |
8: 11,493,685 (GRCm39) |
G1418V |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,760,388 (GRCm39) |
D677N |
possibly damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,392,079 (GRCm39) |
N125I |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,854,723 (GRCm39) |
M68L |
probably benign |
Het |
| Dclk2 |
T |
A |
3: 86,706,397 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,308,988 (GRCm39) |
D1921G |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,905,667 (GRCm39) |
G4104S |
probably damaging |
Het |
| Echdc2 |
T |
C |
4: 108,036,108 (GRCm39) |
I273T |
probably damaging |
Het |
| Extl1 |
T |
C |
4: 134,085,330 (GRCm39) |
K596E |
probably damaging |
Het |
| Fads3 |
A |
T |
19: 10,029,663 (GRCm39) |
D108V |
probably null |
Het |
| Fam135b |
A |
G |
15: 71,322,343 (GRCm39) |
L1274P |
probably damaging |
Het |
| Fat1 |
T |
A |
8: 45,477,639 (GRCm39) |
H2228Q |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,128,502 (GRCm39) |
H1341Y |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,036,840 (GRCm39) |
|
probably null |
Het |
| Gpr137 |
A |
C |
19: 6,917,072 (GRCm39) |
V139G |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,197,749 (GRCm39) |
|
probably null |
Het |
| Irak2 |
A |
T |
6: 113,655,636 (GRCm39) |
N285Y |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,387,884 (GRCm39) |
C566Y |
probably benign |
Het |
| Klhl29 |
G |
A |
12: 5,190,705 (GRCm39) |
P97S |
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,941,591 (GRCm39) |
|
probably benign |
Het |
| Lhx6 |
G |
A |
2: 35,981,728 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,723,651 (GRCm39) |
L2529P |
probably damaging |
Het |
| Muc4 |
G |
A |
16: 32,754,086 (GRCm38) |
G1321R |
probably benign |
Het |
| Naa15 |
T |
A |
3: 51,345,826 (GRCm39) |
V19D |
probably damaging |
Het |
| Ncbp3 |
A |
T |
11: 72,964,355 (GRCm39) |
|
probably benign |
Het |
| Nckipsd |
G |
A |
9: 108,692,168 (GRCm39) |
V530I |
probably benign |
Het |
| Neb |
A |
G |
2: 52,198,759 (GRCm39) |
I394T |
possibly damaging |
Het |
| Nnmt |
A |
T |
9: 48,503,224 (GRCm39) |
|
probably benign |
Het |
| Nup58 |
T |
A |
14: 60,480,026 (GRCm39) |
I207L |
probably benign |
Het |
| Or14j2 |
A |
T |
17: 37,885,808 (GRCm39) |
C169S |
probably damaging |
Het |
| Or5ae1 |
T |
A |
7: 84,565,578 (GRCm39) |
M197K |
probably damaging |
Het |
| Or5k16 |
C |
T |
16: 58,736,213 (GRCm39) |
E264K |
probably benign |
Het |
| Otud4 |
T |
A |
8: 80,399,510 (GRCm39) |
N741K |
probably damaging |
Het |
| Pard6a |
T |
A |
8: 106,429,833 (GRCm39) |
C264S |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,091,099 (GRCm39) |
N276S |
probably damaging |
Het |
| Pramel31 |
T |
A |
4: 144,089,100 (GRCm39) |
H139Q |
possibly damaging |
Het |
| Pramel32 |
T |
A |
4: 88,547,307 (GRCm39) |
K121N |
probably benign |
Het |
| Racgap1 |
T |
C |
15: 99,534,003 (GRCm39) |
|
probably benign |
Het |
| Rad51d |
T |
C |
11: 82,780,572 (GRCm39) |
D70G |
probably damaging |
Het |
| Recql4 |
C |
T |
15: 76,591,536 (GRCm39) |
A484T |
possibly damaging |
Het |
| Reg3g |
A |
T |
6: 78,443,762 (GRCm39) |
S149T |
probably benign |
Het |
| Rpl13a |
C |
A |
7: 44,776,495 (GRCm39) |
|
probably null |
Het |
| Scn10a |
T |
C |
9: 119,501,292 (GRCm39) |
Y164C |
probably damaging |
Het |
| Scn2a |
A |
G |
2: 65,594,784 (GRCm39) |
I1878V |
probably benign |
Het |
| Sgcg |
T |
A |
14: 61,477,796 (GRCm39) |
R98* |
probably null |
Het |
| Speer4c2 |
C |
A |
5: 15,861,884 (GRCm39) |
|
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 40,468,274 (GRCm39) |
I35F |
probably benign |
Het |
| Tex19.2 |
A |
G |
11: 121,007,638 (GRCm39) |
F270S |
possibly damaging |
Het |
| Traip |
C |
T |
9: 107,847,749 (GRCm39) |
R391W |
probably benign |
Het |
| Trim7 |
A |
G |
11: 48,736,398 (GRCm39) |
N251D |
probably damaging |
Het |
| Trmt2a |
T |
A |
16: 18,067,351 (GRCm39) |
V8D |
probably benign |
Het |
| Tut7 |
T |
C |
13: 59,964,512 (GRCm39) |
E221G |
probably damaging |
Het |
| Ubr3 |
A |
C |
2: 69,819,154 (GRCm39) |
I9L |
probably benign |
Het |
| Vmn2r52 |
G |
T |
7: 9,903,023 (GRCm39) |
H468Q |
probably benign |
Het |
| Vmn2r59 |
T |
A |
7: 41,661,488 (GRCm39) |
T776S |
possibly damaging |
Het |
|
| Other mutations in Usp42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00902:Usp42
|
APN |
5 |
143,705,629 (GRCm39) |
splice site |
probably benign |
|
|
IGL01326:Usp42
|
APN |
5 |
143,706,970 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01985:Usp42
|
APN |
5 |
143,700,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02629:Usp42
|
APN |
5 |
143,708,909 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02683:Usp42
|
APN |
5 |
143,701,101 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL02700:Usp42
|
APN |
5 |
143,702,883 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02965:Usp42
|
APN |
5 |
143,713,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4468001:Usp42
|
UTSW |
5 |
143,700,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0043:Usp42
|
UTSW |
5 |
143,700,465 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0043:Usp42
|
UTSW |
5 |
143,700,465 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0420:Usp42
|
UTSW |
5 |
143,700,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1066:Usp42
|
UTSW |
5 |
143,703,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1345:Usp42
|
UTSW |
5 |
143,703,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1628:Usp42
|
UTSW |
5 |
143,703,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1728:Usp42
|
UTSW |
5 |
143,700,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1729:Usp42
|
UTSW |
5 |
143,700,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1767:Usp42
|
UTSW |
5 |
143,700,621 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1772:Usp42
|
UTSW |
5 |
143,702,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1784:Usp42
|
UTSW |
5 |
143,700,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1916:Usp42
|
UTSW |
5 |
143,700,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2425:Usp42
|
UTSW |
5 |
143,701,594 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2867:Usp42
|
UTSW |
5 |
143,701,219 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2867:Usp42
|
UTSW |
5 |
143,701,219 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2886:Usp42
|
UTSW |
5 |
143,707,384 (GRCm39) |
splice site |
probably benign |
|
|
R3195:Usp42
|
UTSW |
5 |
143,702,954 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3737:Usp42
|
UTSW |
5 |
143,701,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3738:Usp42
|
UTSW |
5 |
143,701,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4034:Usp42
|
UTSW |
5 |
143,701,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Usp42
|
UTSW |
5 |
143,709,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4940:Usp42
|
UTSW |
5 |
143,705,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4967:Usp42
|
UTSW |
5 |
143,701,119 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5282:Usp42
|
UTSW |
5 |
143,707,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5773:Usp42
|
UTSW |
5 |
143,699,467 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5778:Usp42
|
UTSW |
5 |
143,705,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5933:Usp42
|
UTSW |
5 |
143,701,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6192:Usp42
|
UTSW |
5 |
143,702,942 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6275:Usp42
|
UTSW |
5 |
143,700,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6496:Usp42
|
UTSW |
5 |
143,700,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6825:Usp42
|
UTSW |
5 |
143,713,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6939:Usp42
|
UTSW |
5 |
143,713,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Usp42
|
UTSW |
5 |
143,712,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7356:Usp42
|
UTSW |
5 |
143,702,842 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7876:Usp42
|
UTSW |
5 |
143,707,426 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8243:Usp42
|
UTSW |
5 |
143,700,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8554:Usp42
|
UTSW |
5 |
143,706,137 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8716:Usp42
|
UTSW |
5 |
143,703,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Usp42
|
UTSW |
5 |
143,702,632 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8886:Usp42
|
UTSW |
5 |
143,700,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8917:Usp42
|
UTSW |
5 |
143,701,695 (GRCm39) |
missense |
|
|
|
R9027:Usp42
|
UTSW |
5 |
143,708,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9062:Usp42
|
UTSW |
5 |
143,703,740 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9283:Usp42
|
UTSW |
5 |
143,705,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9354:Usp42
|
UTSW |
5 |
143,701,027 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9524:Usp42
|
UTSW |
5 |
143,702,704 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9620:Usp42
|
UTSW |
5 |
143,703,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9748:Usp42
|
UTSW |
5 |
143,713,533 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9789:Usp42
|
UTSW |
5 |
143,706,060 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
X0022:Usp42
|
UTSW |
5 |
143,701,815 (GRCm39) |
frame shift |
probably null |
|
|
X0027:Usp42
|
UTSW |
5 |
143,702,833 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Posted On |
2011-07-12 |
Incidental Mutation