Incidental Mutation 'R9062:Usp42'
| ID |
689029 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| MMRRC Submission |
068888-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9062 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 143703740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 441
(V441A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053287
AA Change: V441A
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: V441A
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (52/52) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ambra1 |
A |
G |
2: 91,740,662 (GRCm39) |
E1047G |
possibly damaging |
Het |
| Ankfn1 |
T |
G |
11: 89,325,583 (GRCm39) |
I530L |
probably benign |
Het |
| Apob |
A |
T |
12: 8,058,046 (GRCm39) |
Y2176F |
possibly damaging |
Het |
| Atp5f1a |
C |
T |
18: 77,866,459 (GRCm39) |
R171* |
probably null |
Het |
| Atxn10 |
T |
C |
15: 85,275,918 (GRCm39) |
V325A |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,890 (GRCm39) |
Y202H |
|
Het |
| Calhm1 |
A |
T |
19: 47,129,828 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cel |
C |
A |
2: 28,451,214 (GRCm39) |
V48F |
probably benign |
Het |
| Cep78 |
T |
A |
19: 15,956,318 (GRCm39) |
Y207F |
probably benign |
Het |
| Cnst |
T |
C |
1: 179,434,100 (GRCm39) |
|
probably null |
Het |
| Cpeb2 |
C |
A |
5: 43,391,171 (GRCm39) |
N122K |
|
Het |
| Cyth1 |
T |
C |
11: 118,023,142 (GRCm39) |
Q432R |
unknown |
Het |
| Eif2ak1 |
T |
C |
5: 143,803,548 (GRCm39) |
|
probably benign |
Het |
| Eif6 |
T |
C |
2: 155,665,928 (GRCm39) |
T76A |
probably benign |
Het |
| Etfrf1 |
A |
T |
6: 145,161,153 (GRCm39) |
N41I |
probably damaging |
Het |
| Etl4 |
T |
G |
2: 20,748,616 (GRCm39) |
L318R |
probably damaging |
Het |
| Fam151a |
G |
T |
4: 106,605,306 (GRCm39) |
W556L |
probably benign |
Het |
| Gas2l1 |
A |
G |
11: 5,011,497 (GRCm39) |
V444A |
probably benign |
Het |
| Gbp8 |
A |
G |
5: 105,179,124 (GRCm39) |
I125T |
possibly damaging |
Het |
| Jrkl |
A |
G |
9: 13,245,338 (GRCm39) |
F108L |
probably benign |
Het |
| Kif13a |
G |
T |
13: 46,941,536 (GRCm39) |
D980E |
possibly damaging |
Het |
| Leng9 |
C |
T |
7: 4,151,666 (GRCm39) |
A337T |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,757,714 (GRCm39) |
C252G |
probably damaging |
Het |
| Lrp4 |
C |
A |
2: 91,303,925 (GRCm39) |
D113E |
possibly damaging |
Het |
| Mapk8ip1 |
T |
C |
2: 92,217,527 (GRCm39) |
Y265C |
probably damaging |
Het |
| Mios |
A |
T |
6: 8,233,221 (GRCm39) |
I790F |
probably benign |
Het |
| Mlf2 |
G |
A |
6: 124,911,334 (GRCm39) |
|
silent |
Het |
| Mycbp2 |
T |
A |
14: 103,479,796 (GRCm39) |
Y1226F |
probably benign |
Het |
| Ncoa6 |
T |
A |
2: 155,263,348 (GRCm39) |
Q362L |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,341,692 (GRCm39) |
D2020G |
possibly damaging |
Het |
| Or4a73 |
T |
C |
2: 89,420,923 (GRCm39) |
M179V |
probably benign |
Het |
| Or4c111 |
T |
A |
2: 88,843,548 (GRCm39) |
T287S |
probably damaging |
Het |
| Or52z1 |
T |
A |
7: 103,437,155 (GRCm39) |
I110L |
probably benign |
Het |
| Or8d1b |
A |
T |
9: 38,887,421 (GRCm39) |
I150F |
probably benign |
Het |
| Otop2 |
C |
A |
11: 115,214,465 (GRCm39) |
A74E |
probably benign |
Het |
| Pgm1 |
T |
C |
4: 99,843,954 (GRCm39) |
I579T |
probably damaging |
Het |
| Preb |
A |
G |
5: 31,116,196 (GRCm39) |
V137A |
probably benign |
Het |
| Psap |
G |
T |
10: 60,131,738 (GRCm39) |
V244L |
possibly damaging |
Het |
| Setbp1 |
A |
G |
18: 78,900,266 (GRCm39) |
S1134P |
probably benign |
Het |
| Skp2 |
G |
T |
15: 9,113,821 (GRCm39) |
P399Q |
probably damaging |
Het |
| Slc47a1 |
T |
G |
11: 61,253,924 (GRCm39) |
I222L |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,126,945 (GRCm39) |
W2022R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,601,717 (GRCm39) |
L1515S |
unknown |
Het |
| Sri |
T |
C |
5: 8,106,625 (GRCm39) |
Y13H |
unknown |
Het |
| Tcf25 |
T |
C |
8: 124,116,448 (GRCm39) |
F248L |
|
Het |
| Tdrd12 |
T |
C |
7: 35,179,694 (GRCm39) |
T885A |
unknown |
Het |
| Ttn |
T |
C |
2: 76,600,944 (GRCm39) |
T18813A |
probably damaging |
Het |
| Vwa1 |
A |
T |
4: 155,854,820 (GRCm39) |
S405T |
probably benign |
Het |
| Zbbx |
A |
T |
3: 74,989,124 (GRCm39) |
H326Q |
possibly damaging |
Het |
| Zfp64 |
T |
C |
2: 168,767,747 (GRCm39) |
T622A |
probably benign |
Het |
| Zfp677 |
T |
G |
17: 21,612,815 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGGCCTCTGTAATAACGGGC -3'
(R):5'- TGTGCAGCTCTGAGTTGTCC -3'
Sequencing Primer
(F):5'- CTCTGTAATAACGGGCTGCAG -3'
(R):5'- CTCTGAGTTGTCCGGAGCTC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation