Incidental Mutation 'R7099:Usp42'
ID |
550695 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Usp42
|
Ensembl Gene |
ENSMUSG00000051306 |
Gene Name |
ubiquitin specific peptidase 42 |
Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
MMRRC Submission |
045191-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7099 (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 T
at 143712400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 95
(S95T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
AlphaFold |
B2RQC2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: S95T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000053955 Gene: ENSMUSG00000051306 AA Change: S95T
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 |
|
Meta Mutation Damage Score |
0.0737 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (65/65) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930453N24Rik |
C |
T |
16: 64,591,151 (GRCm39) |
A26T |
probably benign |
Het |
Acly |
T |
C |
11: 100,383,117 (GRCm39) |
|
probably null |
Het |
Adam29 |
A |
C |
8: 56,324,439 (GRCm39) |
L672V |
probably benign |
Het |
Adgrf1 |
T |
C |
17: 43,621,493 (GRCm39) |
S577P |
probably benign |
Het |
Ankar |
T |
C |
1: 72,682,452 (GRCm39) |
K1371R |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,934,009 (GRCm39) |
D631G |
probably damaging |
Het |
Brpf3 |
T |
C |
17: 29,025,611 (GRCm39) |
V228A |
probably benign |
Het |
C3 |
T |
C |
17: 57,513,276 (GRCm39) |
D1457G |
probably benign |
Het |
Calr4 |
A |
T |
4: 109,099,426 (GRCm39) |
N143I |
probably benign |
Het |
Catsperd |
T |
G |
17: 56,935,811 (GRCm39) |
|
probably null |
Het |
Cobl |
T |
A |
11: 12,246,540 (GRCm39) |
H154L |
|
Het |
Cryzl2 |
G |
A |
1: 157,316,154 (GRCm39) |
|
probably benign |
Het |
Dennd1c |
A |
G |
17: 57,374,915 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,923,698 (GRCm39) |
D1222V |
possibly damaging |
Het |
Errfi1 |
T |
C |
4: 150,951,225 (GRCm39) |
S218P |
probably benign |
Het |
Fbxw27 |
G |
T |
9: 109,599,223 (GRCm39) |
T398N |
probably damaging |
Het |
Fhod3 |
A |
G |
18: 25,223,219 (GRCm39) |
D855G |
probably benign |
Het |
Flii |
A |
G |
11: 60,611,481 (GRCm39) |
V410A |
probably benign |
Het |
Fsip2 |
C |
A |
2: 82,817,968 (GRCm39) |
P4567Q |
probably benign |
Het |
Fxyd1 |
T |
G |
7: 30,752,458 (GRCm39) |
Q66H |
probably damaging |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gramd2b |
C |
T |
18: 56,625,017 (GRCm39) |
T370I |
probably benign |
Het |
Kdr |
A |
G |
5: 76,104,993 (GRCm39) |
V1079A |
probably damaging |
Het |
Lmx1a |
G |
A |
1: 167,658,115 (GRCm39) |
G166D |
probably damaging |
Het |
Lrrfip2 |
A |
G |
9: 111,002,176 (GRCm39) |
R92G |
probably benign |
Het |
Map1a |
T |
A |
2: 121,130,998 (GRCm39) |
S605T |
probably benign |
Het |
Megf8 |
A |
T |
7: 25,045,945 (GRCm39) |
D1496V |
probably damaging |
Het |
Mgam |
T |
C |
6: 40,638,650 (GRCm39) |
V461A |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,539,195 (GRCm39) |
T2069A |
probably benign |
Het |
Nbeal2 |
A |
T |
9: 110,474,506 (GRCm39) |
|
probably null |
Het |
Ndst1 |
A |
G |
18: 60,828,572 (GRCm39) |
F661L |
possibly damaging |
Het |
Neu3 |
G |
A |
7: 99,463,027 (GRCm39) |
T232M |
possibly damaging |
Het |
Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
Nr5a1 |
G |
T |
2: 38,584,148 (GRCm39) |
L424M |
probably damaging |
Het |
Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
Or4d10c |
A |
G |
19: 12,065,530 (GRCm39) |
F209L |
possibly damaging |
Het |
Or4k51 |
A |
T |
2: 111,585,421 (GRCm39) |
T276S |
probably benign |
Het |
Or6d12 |
T |
A |
6: 116,493,721 (GRCm39) |
*328R |
probably null |
Het |
Or8g33 |
G |
A |
9: 39,337,599 (GRCm39) |
T256I |
probably benign |
Het |
Otud7a |
A |
G |
7: 63,407,203 (GRCm39) |
E502G |
possibly damaging |
Het |
Otulin |
A |
G |
15: 27,608,832 (GRCm39) |
L237S |
probably damaging |
Het |
Pias1 |
A |
G |
9: 62,788,427 (GRCm39) |
M79T |
|
Het |
Prom2 |
T |
C |
2: 127,381,698 (GRCm39) |
E206G |
probably benign |
Het |
Scarb1 |
A |
T |
5: 125,381,414 (GRCm39) |
N43K |
probably damaging |
Het |
Sdad1 |
A |
G |
5: 92,441,832 (GRCm39) |
V365A |
possibly damaging |
Het |
Sdk2 |
T |
C |
11: 113,725,731 (GRCm39) |
T1173A |
probably damaging |
Het |
Sidt1 |
A |
G |
16: 44,063,860 (GRCm39) |
S803P |
probably damaging |
Het |
Slc45a1 |
A |
T |
4: 150,714,030 (GRCm39) |
D738E |
probably benign |
Het |
Slc4a7 |
T |
A |
14: 14,733,750 (GRCm38) |
H53Q |
probably damaging |
Het |
Spata22 |
T |
C |
11: 73,231,225 (GRCm39) |
F160L |
probably benign |
Het |
Stag1 |
G |
A |
9: 100,826,879 (GRCm39) |
V949I |
probably benign |
Het |
Syne1 |
T |
C |
10: 5,073,744 (GRCm39) |
S1200G |
probably benign |
Het |
Tbc1d9 |
A |
G |
8: 83,981,520 (GRCm39) |
E729G |
probably damaging |
Het |
Tcaf2 |
C |
T |
6: 42,607,275 (GRCm39) |
M226I |
probably benign |
Het |
Tep1 |
T |
C |
14: 51,081,944 (GRCm39) |
|
probably null |
Het |
Tigd2 |
C |
A |
6: 59,187,166 (GRCm39) |
T11K |
probably damaging |
Het |
Trappc9 |
A |
G |
15: 72,565,468 (GRCm39) |
V941A |
probably benign |
Het |
Ugt2b37 |
A |
G |
5: 87,388,848 (GRCm39) |
M455T |
probably benign |
Het |
Usp44 |
T |
C |
10: 93,686,049 (GRCm39) |
I488T |
possibly damaging |
Het |
Vmn1r73 |
T |
C |
7: 11,490,320 (GRCm39) |
I46T |
probably damaging |
Het |
Vmn2r34 |
A |
T |
7: 7,675,540 (GRCm39) |
I616N |
probably damaging |
Het |
Zfp352 |
A |
G |
4: 90,113,117 (GRCm39) |
K419R |
probably benign |
Het |
Zfp595 |
T |
A |
13: 67,465,711 (GRCm39) |
H187L |
probably damaging |
Het |
Zfp804b |
A |
T |
5: 6,822,161 (GRCm39) |
S301T |
probably benign |
Het |
Zzef1 |
T |
C |
11: 72,763,475 (GRCm39) |
V1374A |
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 |
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 |
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'- AGGTTCTCAAGAGCATGAGGC -3'
(R):5'- TCCTTGAAGATGATTTGTTGAAGCC -3'
Sequencing Primer
(F):5'- AGGCACTCACATGTCTTGGAG -3'
(R):5'- GGAGTTAATGTCACCCTAGGC -3'
|
Posted On |
2019-05-15 |