Incidental Mutation 'R9620:Usp42'
ID |
724703 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp42
|
Ensembl Gene |
ENSMUSG00000051306 |
Gene Name |
ubiquitin specific peptidase 42 |
Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9620 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143703154 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 489
(V489A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
AlphaFold |
B2RQC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: V489A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053955 Gene: ENSMUSG00000051306 AA Change: V489A
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: 99.2%
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
G |
T |
18: 10,704,605 (GRCm39) |
T151K |
possibly damaging |
Het |
Acsf2 |
C |
T |
11: 94,463,412 (GRCm39) |
W130* |
probably null |
Het |
Aldh16a1 |
G |
A |
7: 44,797,413 (GRCm39) |
R132* |
probably null |
Het |
Amer3 |
C |
T |
1: 34,628,043 (GRCm39) |
P761S |
probably benign |
Het |
Amotl1 |
G |
T |
9: 14,459,969 (GRCm39) |
D886E |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,035,909 (GRCm39) |
F1383S |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,225,781 (GRCm39) |
V148E |
unknown |
Het |
Col9a2 |
T |
A |
4: 120,910,403 (GRCm39) |
|
probably null |
Het |
Cyp2a5 |
T |
A |
7: 26,536,636 (GRCm39) |
M205K |
possibly damaging |
Het |
Dcst2 |
A |
T |
3: 89,277,825 (GRCm39) |
Q466L |
possibly damaging |
Het |
Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
Enthd1 |
G |
A |
15: 80,336,901 (GRCm39) |
T511I |
probably benign |
Het |
Exoc6b |
T |
A |
6: 84,988,302 (GRCm39) |
K92* |
probably null |
Het |
Fam181a |
T |
G |
12: 103,282,591 (GRCm39) |
Y165* |
probably null |
Het |
Fbxo34 |
A |
G |
14: 47,768,725 (GRCm39) |
Y746C |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,308,994 (GRCm39) |
S372T |
possibly damaging |
Het |
Fmo1 |
A |
G |
1: 162,661,390 (GRCm39) |
F298L |
probably benign |
Het |
Gad1 |
A |
C |
2: 70,404,620 (GRCm39) |
D170A |
possibly damaging |
Het |
Garin2 |
A |
C |
12: 78,762,077 (GRCm39) |
D247A |
probably damaging |
Het |
Golgb1 |
T |
C |
16: 36,739,811 (GRCm39) |
S2758P |
probably benign |
Het |
Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
H2az2 |
A |
T |
11: 6,379,094 (GRCm39) |
|
probably null |
Het |
Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
Krt9 |
A |
T |
11: 100,079,186 (GRCm39) |
D735E |
unknown |
Het |
Lipo3 |
A |
T |
19: 33,559,629 (GRCm39) |
C80* |
probably null |
Het |
Lpcat3 |
C |
T |
6: 124,680,543 (GRCm39) |
P478L |
probably damaging |
Het |
Luc7l3 |
G |
A |
11: 94,212,545 (GRCm39) |
R24C |
unknown |
Het |
Mafa |
T |
A |
15: 75,619,161 (GRCm39) |
H204L |
probably benign |
Het |
Mapk10 |
A |
C |
5: 103,114,473 (GRCm39) |
V305G |
probably damaging |
Het |
Mgat1 |
T |
C |
11: 49,152,122 (GRCm39) |
F202L |
probably benign |
Het |
Mical2 |
A |
T |
7: 111,980,403 (GRCm39) |
T126S |
probably benign |
Het |
Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
Nlrc5 |
A |
T |
8: 95,203,034 (GRCm39) |
Y378F |
probably benign |
Het |
Nlrp9a |
G |
T |
7: 26,250,469 (GRCm39) |
R78L |
probably damaging |
Het |
Or10b1 |
G |
T |
10: 78,356,128 (GRCm39) |
A229S |
probably benign |
Het |
Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
Or8g50 |
A |
T |
9: 39,648,287 (GRCm39) |
M59L |
|
Het |
Orc6 |
A |
T |
8: 86,026,430 (GRCm39) |
|
probably benign |
Het |
Pate14 |
A |
G |
9: 36,548,498 (GRCm39) |
|
probably null |
Het |
Pcdhgb5 |
C |
T |
18: 37,864,486 (GRCm39) |
Q94* |
probably null |
Het |
Pcnx1 |
A |
G |
12: 81,996,960 (GRCm39) |
D952G |
probably damaging |
Het |
Ppfia2 |
A |
T |
10: 106,749,519 (GRCm39) |
H1135L |
|
Het |
Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
Rapgef4 |
A |
G |
2: 72,036,051 (GRCm39) |
T515A |
probably benign |
Het |
Rgmb |
G |
A |
17: 16,041,279 (GRCm39) |
R103* |
probably null |
Het |
Ripk1 |
T |
G |
13: 34,210,806 (GRCm39) |
S334A |
possibly damaging |
Het |
Rnf5 |
C |
T |
17: 34,820,721 (GRCm39) |
G147S |
possibly damaging |
Het |
Ryr1 |
T |
C |
7: 28,715,138 (GRCm39) |
Y4662C |
unknown |
Het |
Secisbp2l |
A |
G |
2: 125,589,394 (GRCm39) |
M718T |
probably damaging |
Het |
Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
Slc27a6 |
T |
A |
18: 58,742,887 (GRCm39) |
M525K |
probably damaging |
Het |
Slco2a1 |
G |
C |
9: 102,962,065 (GRCm39) |
C579S |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,263,794 (GRCm39) |
S864P |
probably damaging |
Het |
Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
Tlr6 |
A |
T |
5: 65,112,146 (GRCm39) |
S254T |
possibly damaging |
Het |
Trap1 |
A |
T |
16: 3,858,083 (GRCm39) |
Y675* |
probably null |
Het |
Ttc9b |
C |
A |
7: 27,353,512 (GRCm39) |
A54E |
probably damaging |
Het |
Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
Usp17ld |
A |
G |
7: 102,900,179 (GRCm39) |
L251P |
possibly damaging |
Het |
Vars1 |
A |
G |
17: 35,235,001 (GRCm39) |
T1277A |
unknown |
Het |
Vmn2r117 |
A |
G |
17: 23,697,450 (GRCm39) |
S81P |
probably damaging |
Het |
Vmn2r69 |
T |
A |
7: 85,061,504 (GRCm39) |
I157F |
probably benign |
Het |
Zfp697 |
A |
G |
3: 98,335,182 (GRCm39) |
S316G |
probably damaging |
Het |
Zfp729b |
T |
A |
13: 67,739,787 (GRCm39) |
H826L |
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 |
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 |
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'- ACTAGGAGCCTCCAGACAAG -3'
(R):5'- GGCTTGGGCTCATCAGTAGATG -3'
Sequencing Primer
(F):5'- TCCAGACAAGGGCCATGG -3'
(R):5'- GTGAAGCTTGTTAGTCACCAAG -3'
|
Posted On |
2022-09-12 |