Incidental Mutation 'R4940:Usp42'
| ID |
382993 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4940 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143705517 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 365
(N365D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: N365D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: N365D
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,828,782 (GRCm39) |
T240A |
probably benign |
Het |
| Abca15 |
T |
C |
7: 119,931,917 (GRCm39) |
Y57H |
probably benign |
Het |
| Adgrf4 |
A |
G |
17: 42,977,420 (GRCm39) |
I641T |
possibly damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,616,560 (GRCm39) |
Y2410H |
probably damaging |
Het |
| Apbb2 |
C |
A |
5: 66,609,604 (GRCm39) |
L14F |
probably null |
Het |
| Arhgdia |
T |
C |
11: 120,470,061 (GRCm39) |
D204G |
probably damaging |
Het |
| Armh4 |
A |
T |
14: 50,010,939 (GRCm39) |
M256K |
probably benign |
Het |
| Catsperd |
A |
T |
17: 56,969,736 (GRCm39) |
Y610F |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 51,853,466 (GRCm39) |
D27E |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,917,453 (GRCm39) |
I893F |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,917,508 (GRCm39) |
H911R |
probably damaging |
Het |
| Cdh23 |
T |
A |
10: 60,143,714 (GRCm39) |
I2966F |
probably damaging |
Het |
| Cfap299 |
A |
G |
5: 98,885,495 (GRCm39) |
H134R |
possibly damaging |
Het |
| Chat |
G |
A |
14: 32,141,062 (GRCm39) |
P445L |
probably damaging |
Het |
| Chdh |
G |
T |
14: 29,754,809 (GRCm39) |
R273L |
possibly damaging |
Het |
| Clic3 |
T |
C |
2: 25,347,929 (GRCm39) |
V72A |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,251 (GRCm39) |
D244E |
probably benign |
Het |
| Ddr1 |
T |
A |
17: 36,001,022 (GRCm39) |
D241V |
probably damaging |
Het |
| Dock7 |
T |
A |
4: 98,908,314 (GRCm39) |
K605N |
probably damaging |
Het |
| Dsg2 |
T |
A |
18: 20,712,487 (GRCm39) |
F164I |
probably damaging |
Het |
| Dstyk |
T |
A |
1: 132,380,844 (GRCm39) |
N446K |
probably damaging |
Het |
| Epb42 |
A |
T |
2: 120,864,932 (GRCm39) |
L53Q |
probably damaging |
Het |
| Extl2 |
G |
C |
3: 115,820,841 (GRCm39) |
K229N |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,275,051 (GRCm39) |
S617C |
probably damaging |
Het |
| Fscb |
C |
T |
12: 64,520,588 (GRCm39) |
V293I |
probably benign |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gm4978 |
A |
C |
9: 69,358,154 (GRCm39) |
|
probably benign |
Het |
| Gm6729 |
A |
G |
10: 86,376,252 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
A |
C |
3: 108,007,932 (GRCm39) |
N293T |
probably benign |
Het |
| Herpud1 |
T |
C |
8: 95,117,470 (GRCm39) |
I142T |
probably benign |
Het |
| Irak2 |
G |
A |
6: 113,670,691 (GRCm39) |
V536I |
probably benign |
Het |
| Kcnu1 |
A |
T |
8: 26,387,890 (GRCm39) |
|
probably null |
Het |
| Kdm4a |
A |
G |
4: 118,018,951 (GRCm39) |
S422P |
probably benign |
Het |
| Lair1 |
T |
A |
7: 4,031,948 (GRCm39) |
D53V |
probably benign |
Het |
| Lhx1 |
G |
T |
11: 84,410,735 (GRCm39) |
Y196* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,388,438 (GRCm39) |
T2329I |
unknown |
Het |
| Mag |
T |
C |
7: 30,608,625 (GRCm39) |
D163G |
probably damaging |
Het |
| Magi3 |
A |
G |
3: 103,958,708 (GRCm39) |
V459A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,178,944 (GRCm39) |
Y1451H |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,060,131 (GRCm39) |
C2341S |
probably damaging |
Het |
| Mppe1 |
A |
G |
18: 67,361,095 (GRCm39) |
C221R |
probably damaging |
Het |
| Mtus1 |
T |
A |
8: 41,494,515 (GRCm39) |
H39L |
possibly damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,257,498 (GRCm39) |
Q276* |
probably null |
Het |
| Nkx3-1 |
G |
A |
14: 69,428,367 (GRCm39) |
G72S |
probably benign |
Het |
| Nutm2 |
T |
C |
13: 50,628,909 (GRCm39) |
C658R |
possibly damaging |
Het |
| Olfm1 |
T |
C |
2: 28,112,602 (GRCm39) |
V239A |
possibly damaging |
Het |
| Pcnx1 |
C |
T |
12: 81,964,567 (GRCm39) |
H245Y |
possibly damaging |
Het |
| Pgm3 |
A |
G |
9: 86,441,529 (GRCm39) |
L356S |
probably damaging |
Het |
| Pik3r4 |
C |
G |
9: 105,546,193 (GRCm39) |
H207D |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,794,585 (GRCm39) |
T1859A |
probably benign |
Het |
| Pon3 |
A |
T |
6: 5,221,625 (GRCm39) |
V335E |
possibly damaging |
Het |
| Ppp4r3b |
A |
G |
11: 29,161,740 (GRCm39) |
T705A |
probably benign |
Het |
| Prmt7 |
T |
C |
8: 106,963,910 (GRCm39) |
V268A |
probably benign |
Het |
| Psd |
C |
T |
19: 46,310,856 (GRCm39) |
G398R |
probably damaging |
Het |
| Pygl |
A |
G |
12: 70,253,155 (GRCm39) |
V188A |
probably damaging |
Het |
| Rnf13 |
T |
A |
3: 57,703,627 (GRCm39) |
N110K |
probably damaging |
Het |
| Rnf170 |
C |
T |
8: 26,615,939 (GRCm39) |
Q77* |
probably null |
Het |
| Rrp8 |
A |
T |
7: 105,383,284 (GRCm39) |
Y327* |
probably null |
Het |
| Ruvbl2 |
T |
C |
7: 45,074,150 (GRCm39) |
D228G |
probably damaging |
Het |
| Scgn |
T |
A |
13: 24,173,807 (GRCm39) |
T35S |
probably benign |
Het |
| Scyl3 |
C |
T |
1: 163,762,316 (GRCm39) |
P74S |
probably damaging |
Het |
| Sec61b |
T |
G |
4: 47,483,074 (GRCm39) |
S123A |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,597,899 (GRCm39) |
S32P |
possibly damaging |
Het |
| Slc23a3 |
T |
C |
1: 75,110,447 (GRCm39) |
|
probably null |
Het |
| Sult2a2 |
T |
G |
7: 13,472,223 (GRCm39) |
V140G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,667 (GRCm39) |
S320T |
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,141 (GRCm39) |
Y52H |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,300 (GRCm39) |
E183G |
probably null |
Het |
| Trip10 |
G |
T |
17: 57,570,017 (GRCm39) |
V561F |
possibly damaging |
Het |
| Ttc7 |
G |
T |
17: 87,614,386 (GRCm39) |
V184F |
probably benign |
Het |
| Ubc |
A |
G |
5: 125,463,293 (GRCm39) |
V678A |
probably benign |
Het |
| Unk |
A |
G |
11: 115,944,491 (GRCm39) |
E414G |
possibly damaging |
Het |
| Zbtb26 |
A |
T |
2: 37,326,781 (GRCm39) |
I85K |
probably damaging |
Het |
| Zfhx2 |
A |
T |
14: 55,303,891 (GRCm39) |
H1364Q |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTAGCCTGCAAAGAGATGG -3'
(R):5'- TTGTAGGTCCTGCAAGTCCC -3'
Sequencing Primer
(F):5'- CTGCAAAGAGATGGAGGGTG -3'
(R):5'- CCTTAGGAGTTATGCCAGTAGC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation