Incidental Mutation 'IGL02965:Usp42'
| ID |
365548 |
| 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 # |
IGL02965
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143713769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 2
(T2A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: T2A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: T2A
| 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: 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,071,439 (GRCm39) |
K1471R |
probably benign |
Het |
| Add1 |
A |
G |
5: 34,777,467 (GRCm39) |
S77G |
probably damaging |
Het |
| Atm |
G |
T |
9: 53,364,863 (GRCm39) |
N2642K |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,767,267 (GRCm39) |
M10K |
possibly damaging |
Het |
| Btd |
T |
A |
14: 31,389,193 (GRCm39) |
S305T |
probably damaging |
Het |
| Cmya5 |
C |
T |
13: 93,229,065 (GRCm39) |
V2008I |
probably benign |
Het |
| Cpd |
T |
G |
11: 76,681,814 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,217,766 (GRCm39) |
F772L |
probably damaging |
Het |
| Dlg5 |
A |
T |
14: 24,222,091 (GRCm39) |
I517N |
probably damaging |
Het |
| Fig4 |
G |
A |
10: 41,161,661 (GRCm39) |
T34M |
probably damaging |
Het |
| Flna |
C |
T |
X: 73,270,816 (GRCm39) |
V2235I |
probably damaging |
Het |
| Flot2 |
T |
C |
11: 77,950,031 (GRCm39) |
I371T |
possibly damaging |
Het |
| Fsip2 |
G |
A |
2: 82,813,398 (GRCm39) |
S3239N |
probably benign |
Het |
| Gbp3 |
A |
G |
3: 142,273,343 (GRCm39) |
I297V |
probably benign |
Het |
| Gcnt3 |
T |
C |
9: 69,942,235 (GRCm39) |
E111G |
probably benign |
Het |
| Gdi1 |
G |
T |
X: 73,351,331 (GRCm39) |
A148S |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,060,502 (GRCm39) |
H2058Y |
probably benign |
Het |
| Hsp90aa1 |
A |
G |
12: 110,662,113 (GRCm39) |
M1T |
probably null |
Het |
| Il22b |
A |
G |
10: 118,130,762 (GRCm39) |
S45P |
probably damaging |
Het |
| Inppl1 |
C |
A |
7: 101,477,478 (GRCm39) |
V715F |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,225,991 (GRCm39) |
Y975C |
probably damaging |
Het |
| Kif18b |
A |
G |
11: 102,807,338 (GRCm39) |
|
probably benign |
Het |
| Krt40 |
T |
A |
11: 99,432,492 (GRCm39) |
R175W |
probably damaging |
Het |
| Map3k19 |
T |
C |
1: 127,751,803 (GRCm39) |
D516G |
probably damaging |
Het |
| Mfsd3 |
A |
G |
15: 76,587,352 (GRCm39) |
H345R |
probably benign |
Het |
| Mlkl |
A |
T |
8: 112,058,469 (GRCm39) |
I162N |
probably benign |
Het |
| Mtnr1a |
A |
T |
8: 45,522,419 (GRCm39) |
N58I |
probably damaging |
Het |
| Nsmf |
T |
C |
2: 24,951,774 (GRCm39) |
V499A |
probably damaging |
Het |
| Nudt6 |
A |
G |
3: 37,473,655 (GRCm39) |
L22P |
probably damaging |
Het |
| Nxf7 |
T |
G |
X: 134,490,159 (GRCm39) |
E35A |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,653 (GRCm39) |
I289L |
probably damaging |
Het |
| Paf1 |
T |
C |
7: 28,095,629 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
T |
18: 37,557,021 (GRCm39) |
V784L |
probably benign |
Het |
| Pglyrp2 |
T |
C |
17: 32,637,560 (GRCm39) |
D156G |
probably benign |
Het |
| Pnpt1 |
A |
G |
11: 29,106,939 (GRCm39) |
D670G |
probably damaging |
Het |
| Polr1b |
T |
A |
2: 128,967,443 (GRCm39) |
H945Q |
probably benign |
Het |
| Ptk6 |
C |
T |
2: 180,840,861 (GRCm39) |
|
probably benign |
Het |
| Rftn1 |
C |
T |
17: 50,362,280 (GRCm39) |
E273K |
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,116,168 (GRCm39) |
I117V |
probably benign |
Het |
| Robo4 |
A |
G |
9: 37,321,765 (GRCm39) |
K742R |
possibly damaging |
Het |
| Sez6l |
T |
C |
5: 112,623,440 (GRCm39) |
E37G |
probably damaging |
Het |
| Skint4 |
A |
T |
4: 111,993,218 (GRCm39) |
I306L |
probably benign |
Het |
| Sntb1 |
A |
T |
15: 55,506,081 (GRCm39) |
Y497* |
probably null |
Het |
| Snx27 |
C |
A |
3: 94,489,733 (GRCm39) |
V42L |
probably damaging |
Het |
| Sorbs1 |
T |
A |
19: 40,365,187 (GRCm39) |
T199S |
probably benign |
Het |
| Sorcs2 |
A |
G |
5: 36,235,301 (GRCm39) |
Y72H |
probably benign |
Het |
| Spef2 |
G |
T |
15: 9,725,192 (GRCm39) |
|
probably benign |
Het |
| Sucla2 |
G |
T |
14: 73,816,871 (GRCm39) |
V204L |
probably benign |
Het |
| Tescl |
C |
A |
7: 24,033,098 (GRCm39) |
V76F |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,928,628 (GRCm39) |
Y2681N |
possibly damaging |
Het |
| Vdac3-ps1 |
T |
A |
13: 18,205,431 (GRCm39) |
|
noncoding transcript |
Het |
| Wapl |
T |
A |
14: 34,461,181 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Usp42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Usp42
|
APN |
5 |
143,702,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation