Incidental Mutation 'R5778:Usp42'
| ID |
446808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| MMRRC Submission |
043376-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143705331 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 383
(Y383N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: Y383N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: Y383N
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
A |
G |
8: 124,618,864 (GRCm39) |
S340P |
probably benign |
Het |
| Anpep |
T |
C |
7: 79,486,139 (GRCm39) |
T528A |
probably benign |
Het |
| Apob |
T |
A |
12: 8,065,074 (GRCm39) |
D4014E |
probably benign |
Het |
| Atp23 |
A |
G |
10: 126,735,451 (GRCm39) |
C78R |
probably damaging |
Het |
| Atp8b3 |
A |
G |
10: 80,356,007 (GRCm39) |
F1235S |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,582 (GRCm39) |
D262G |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,012,863 (GRCm39) |
I1848F |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,416,127 (GRCm39) |
A669V |
possibly damaging |
Het |
| Caprin2 |
A |
T |
6: 148,770,820 (GRCm39) |
S391R |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,583,326 (GRCm39) |
R43Q |
possibly damaging |
Het |
| Celsr1 |
A |
T |
15: 85,917,156 (GRCm39) |
N272K |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Dsg1b |
A |
T |
18: 20,542,279 (GRCm39) |
T929S |
possibly damaging |
Het |
| Dusp16 |
G |
T |
6: 134,695,277 (GRCm39) |
T518N |
probably benign |
Het |
| Eno2 |
A |
T |
6: 124,743,261 (GRCm39) |
H158Q |
probably damaging |
Het |
| Ep400 |
T |
C |
5: 110,867,450 (GRCm39) |
D954G |
unknown |
Het |
| Erg28 |
T |
C |
12: 85,866,254 (GRCm39) |
T75A |
possibly damaging |
Het |
| Fam135b |
T |
A |
15: 71,350,881 (GRCm39) |
T332S |
probably damaging |
Het |
| Fam221b |
A |
G |
4: 43,660,683 (GRCm39) |
F357L |
probably damaging |
Het |
| Fcgr2b |
C |
T |
1: 170,790,957 (GRCm39) |
G279R |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,230,121 (GRCm39) |
L1679M |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,435,146 (GRCm39) |
M1K |
probably null |
Het |
| Gsg1 |
A |
T |
6: 135,221,348 (GRCm39) |
I17N |
possibly damaging |
Het |
| Hif3a |
A |
T |
7: 16,785,909 (GRCm39) |
I129N |
probably damaging |
Het |
| Ighv1-11 |
A |
T |
12: 114,576,051 (GRCm39) |
W55R |
probably damaging |
Het |
| Ighv1-20 |
C |
A |
12: 114,687,497 (GRCm39) |
K82N |
probably benign |
Het |
| Igsf21 |
C |
T |
4: 139,764,832 (GRCm39) |
E148K |
probably benign |
Het |
| Il22b |
C |
A |
10: 118,130,768 (GRCm39) |
E43* |
probably null |
Het |
| Klhdc7b |
A |
T |
15: 89,271,523 (GRCm39) |
R802W |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,912,374 (GRCm39) |
I101V |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,876,380 (GRCm39) |
L570P |
probably damaging |
Het |
| Map4k1 |
C |
G |
7: 28,693,646 (GRCm39) |
N412K |
probably benign |
Het |
| Metrnl |
A |
T |
11: 121,605,564 (GRCm39) |
I118F |
possibly damaging |
Het |
| Mmp12 |
T |
A |
9: 7,350,106 (GRCm39) |
D202E |
probably damaging |
Het |
| Mpp2 |
A |
T |
11: 101,955,269 (GRCm39) |
S119T |
probably benign |
Het |
| Ncoa6 |
T |
C |
2: 155,248,688 (GRCm39) |
T1539A |
probably benign |
Het |
| Nlrc5 |
A |
G |
8: 95,206,154 (GRCm39) |
T715A |
possibly damaging |
Het |
| Nsd1 |
T |
A |
13: 55,454,792 (GRCm39) |
N1963K |
probably damaging |
Het |
| Nsd3 |
T |
C |
8: 26,149,834 (GRCm39) |
Y340H |
probably damaging |
Het |
| Nwd1 |
T |
A |
8: 73,419,745 (GRCm39) |
S977T |
probably damaging |
Het |
| Or5d39 |
T |
A |
2: 87,979,961 (GRCm39) |
Y134F |
probably damaging |
Het |
| Or7d10 |
G |
T |
9: 19,832,337 (GRCm39) |
M277I |
probably benign |
Het |
| Pcdh8 |
T |
C |
14: 80,008,197 (GRCm39) |
E122G |
probably damaging |
Het |
| Pcmtd2 |
A |
C |
2: 181,496,991 (GRCm39) |
T323P |
probably benign |
Het |
| Pign |
C |
A |
1: 105,519,447 (GRCm39) |
G492C |
probably damaging |
Het |
| Plppr3 |
A |
G |
10: 79,702,337 (GRCm39) |
V245A |
possibly damaging |
Het |
| Prl7a2 |
C |
T |
13: 27,844,983 (GRCm39) |
W134* |
probably null |
Het |
| Prom1 |
A |
T |
5: 44,164,389 (GRCm39) |
N722K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,988,860 (GRCm39) |
N663K |
probably damaging |
Het |
| Rgl1 |
G |
T |
1: 152,428,172 (GRCm39) |
H315Q |
probably benign |
Het |
| Smpdl3a |
C |
A |
10: 57,677,097 (GRCm39) |
A65E |
probably damaging |
Het |
| Spdye4b |
G |
A |
5: 143,188,142 (GRCm39) |
D212N |
probably damaging |
Het |
| Tafa3 |
T |
A |
3: 104,679,505 (GRCm39) |
K126N |
probably damaging |
Het |
| Tanc1 |
G |
T |
2: 59,529,691 (GRCm39) |
|
probably null |
Het |
| Trio |
A |
G |
15: 27,856,250 (GRCm39) |
V706A |
probably benign |
Het |
| Tshz1 |
T |
A |
18: 84,033,805 (GRCm39) |
Q201L |
probably damaging |
Het |
| Ubqln1 |
C |
T |
13: 58,331,131 (GRCm39) |
M365I |
probably benign |
Het |
| Vmn1r189 |
A |
G |
13: 22,286,552 (GRCm39) |
I95T |
probably damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,274 (GRCm39) |
S819R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCAGAAAGGCCTCCTTGTG -3'
(R):5'- GGCCACTACTTTTGCTACATCAAG -3'
Sequencing Primer
(F):5'- GGTGCATGGCAACTCATGTTTAAC -3'
(R):5'- GCTACATCAAGGTAAGCTGTTG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation