Incidental Mutation 'R1628:Usp42'
ID |
172601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp42
|
Ensembl Gene |
ENSMUSG00000051306 |
Gene Name |
ubiquitin specific peptidase 42 |
Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
MMRRC Submission |
039665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1628 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 143703122 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 500
(S500P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
AlphaFold |
B2RQC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: S500P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000053955 Gene: ENSMUSG00000051306 AA Change: S500P
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
|
Meta Mutation Damage Score |
0.0755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
Validation Efficiency |
99% (75/76) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
Il23r |
A |
G |
6: 67,400,593 (GRCm39) |
L579S |
probably damaging |
Het |
Itsn2 |
A |
C |
12: 4,679,652 (GRCm39) |
M154L |
probably benign |
Het |
Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
Pecam1 |
A |
T |
11: 106,573,786 (GRCm39) |
|
probably null |
Het |
Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
Ralgapb |
A |
G |
2: 158,272,383 (GRCm39) |
R146G |
probably benign |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
Skic3 |
A |
G |
13: 76,259,910 (GRCm39) |
E70G |
possibly damaging |
Het |
Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
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 |
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 |
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'- GTCACTGTCTGCGCTATTAGCACC -3'
(R):5'- AGCCATTGTGCGTCTTGTGTCC -3'
Sequencing Primer
(F):5'- GCGCTATTAGCACCATTTAGCAG -3'
(R):5'- TGTGTCCAAAGTGCTGACC -3'
|
Posted On |
2014-04-24 |