Incidental Mutation 'R6939:Usp42'
ID |
540421 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp42
|
Ensembl Gene |
ENSMUSG00000051306 |
Gene Name |
ubiquitin specific peptidase 42 |
Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
MMRRC Submission |
045053-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6939 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 143713724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 17
(N17D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
AlphaFold |
B2RQC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: N17D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053955 Gene: ENSMUSG00000051306 AA Change: N17D
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.9%
|
Validation Efficiency |
99% (66/67) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
G |
A |
15: 60,792,244 (GRCm39) |
P128L |
probably damaging |
Het |
Acsm3 |
T |
C |
7: 119,377,678 (GRCm39) |
V401A |
probably damaging |
Het |
Arhgef11 |
C |
A |
3: 87,594,227 (GRCm39) |
N93K |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,489,760 (GRCm39) |
|
probably null |
Het |
Camk2a |
A |
G |
18: 61,091,226 (GRCm39) |
E236G |
probably damaging |
Het |
Cav2 |
C |
A |
6: 17,281,410 (GRCm39) |
D17E |
possibly damaging |
Het |
Ccdc149 |
T |
C |
5: 52,533,607 (GRCm39) |
S520G |
probably benign |
Het |
Chd4 |
C |
A |
6: 125,083,501 (GRCm39) |
H674Q |
probably damaging |
Het |
Clrn2 |
A |
T |
5: 45,611,096 (GRCm39) |
|
probably benign |
Het |
Cntnap1 |
A |
C |
11: 101,077,337 (GRCm39) |
I1000L |
probably damaging |
Het |
Cyp2c67 |
T |
C |
19: 39,631,778 (GRCm39) |
T140A |
possibly damaging |
Het |
D7Ertd443e |
T |
C |
7: 133,966,208 (GRCm39) |
|
probably null |
Het |
Dcdc2c |
G |
T |
12: 28,591,496 (GRCm39) |
Q131K |
probably benign |
Het |
Dmpk |
T |
A |
7: 18,822,149 (GRCm39) |
V369E |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,070,297 (GRCm39) |
W1503R |
probably damaging |
Het |
Dnai7 |
A |
G |
6: 145,120,945 (GRCm39) |
F625L |
possibly damaging |
Het |
Dok2 |
T |
C |
14: 71,013,045 (GRCm39) |
V71A |
probably benign |
Het |
Dqx1 |
A |
T |
6: 83,036,446 (GRCm39) |
Q150L |
probably damaging |
Het |
Extl3 |
A |
G |
14: 65,304,189 (GRCm39) |
I740T |
possibly damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,143,300 (GRCm39) |
W4183* |
probably null |
Het |
Fkrp |
C |
T |
7: 16,545,751 (GRCm39) |
R37Q |
probably benign |
Het |
Frem3 |
A |
G |
8: 81,341,774 (GRCm39) |
K1356E |
probably benign |
Het |
Fus |
A |
T |
7: 127,571,741 (GRCm39) |
|
probably benign |
Het |
Gabarapl2 |
C |
A |
8: 112,669,201 (GRCm39) |
S53* |
probably null |
Het |
Gjd3 |
A |
C |
11: 102,691,733 (GRCm39) |
M90R |
probably damaging |
Het |
Gm30083 |
C |
T |
14: 33,725,557 (GRCm39) |
|
probably null |
Het |
Gm7356 |
T |
A |
17: 14,221,387 (GRCm39) |
Y214F |
probably benign |
Het |
Hexd |
A |
T |
11: 121,113,164 (GRCm39) |
D533V |
probably benign |
Het |
Ift172 |
G |
A |
5: 31,414,930 (GRCm39) |
A1364V |
probably damaging |
Het |
Ighmbp2 |
A |
T |
19: 3,326,907 (GRCm39) |
F186Y |
probably damaging |
Het |
Inpp5e |
C |
A |
2: 26,297,774 (GRCm39) |
|
probably null |
Het |
Iqcb1 |
A |
G |
16: 36,660,274 (GRCm39) |
T146A |
possibly damaging |
Het |
Kcnmb2 |
A |
G |
3: 32,252,465 (GRCm39) |
Y222C |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,297,588 (GRCm39) |
W284R |
probably damaging |
Het |
Khdc4 |
T |
A |
3: 88,593,824 (GRCm39) |
M71K |
probably damaging |
Het |
Ksr2 |
T |
A |
5: 117,903,626 (GRCm39) |
*952R |
probably null |
Het |
Ldlrap1 |
C |
A |
4: 134,495,285 (GRCm39) |
|
probably benign |
Het |
Mpdu1 |
G |
A |
11: 69,548,881 (GRCm39) |
|
probably benign |
Het |
Mrgprh |
A |
T |
17: 13,095,822 (GRCm39) |
T21S |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,549,833 (GRCm39) |
T5487S |
probably benign |
Het |
Mydgf |
A |
G |
17: 56,490,737 (GRCm39) |
|
probably null |
Het |
Napa |
T |
C |
7: 15,849,182 (GRCm39) |
C241R |
possibly damaging |
Het |
Or10ab4 |
C |
A |
7: 107,654,312 (GRCm39) |
A41E |
possibly damaging |
Het |
Or10n7-ps1 |
T |
C |
9: 39,598,187 (GRCm39) |
T18A |
possibly damaging |
Het |
Or5k17 |
A |
T |
16: 58,746,648 (GRCm39) |
Y95* |
probably null |
Het |
Pla2g4f |
A |
T |
2: 120,137,782 (GRCm39) |
L326Q |
probably damaging |
Het |
Pramel16 |
T |
C |
4: 143,675,366 (GRCm39) |
T487A |
probably benign |
Het |
Psme4 |
T |
A |
11: 30,787,291 (GRCm39) |
Y1029N |
probably damaging |
Het |
Ptprj |
T |
C |
2: 90,289,858 (GRCm39) |
T707A |
possibly damaging |
Het |
Raet1e |
T |
A |
10: 22,050,256 (GRCm39) |
M13K |
possibly damaging |
Het |
Rftn2 |
T |
C |
1: 55,233,508 (GRCm39) |
|
probably null |
Het |
Rmi1 |
A |
G |
13: 58,557,169 (GRCm39) |
I473V |
probably benign |
Het |
Rps6ka4 |
A |
G |
19: 6,815,437 (GRCm39) |
F186L |
probably damaging |
Het |
Ryr1 |
T |
A |
7: 28,751,751 (GRCm39) |
M3672L |
possibly damaging |
Het |
Smarca5 |
A |
T |
8: 81,431,949 (GRCm39) |
C890S |
possibly damaging |
Het |
Spata31d1e |
T |
A |
13: 59,889,872 (GRCm39) |
K231N |
possibly damaging |
Het |
Tdrd12 |
C |
T |
7: 35,185,024 (GRCm39) |
|
probably null |
Het |
Tecta |
T |
C |
9: 42,259,293 (GRCm39) |
N1530S |
probably damaging |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Tmem94 |
A |
G |
11: 115,676,656 (GRCm39) |
S54G |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,482,696 (GRCm39) |
V41A |
probably damaging |
Het |
Trpm1 |
A |
G |
7: 63,918,045 (GRCm39) |
T462A |
probably benign |
Het |
Tsg101 |
T |
C |
7: 46,556,847 (GRCm39) |
T61A |
probably benign |
Het |
Zfp607a |
T |
A |
7: 27,578,473 (GRCm39) |
C514* |
probably null |
Het |
Zfp866 |
G |
T |
8: 70,218,871 (GRCm39) |
Q250K |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCATACCTTGATCCTTTGGTGG -3'
(R):5'- AAGACCTCTACCACTGGAGC -3'
Sequencing Primer
(F):5'- CATACCTTGATCCTTTGGTGGTGATG -3'
(R):5'- ACCACTGGAGCTACATTCCTG -3'
|
Posted On |
2018-11-06 |