Incidental Mutation 'R7876:Usp42'
| ID |
608429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| MMRRC Submission |
045928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7876 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 143707426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 252
(T252A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: T252A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: T252A
| 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% (56/56) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,439 (GRCm39) |
K65R |
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,273,509 (GRCm39) |
D1083G |
probably benign |
Het |
| Aox1 |
C |
T |
1: 58,101,330 (GRCm39) |
Q434* |
probably null |
Het |
| Atp13a5 |
T |
A |
16: 29,140,566 (GRCm39) |
N330I |
possibly damaging |
Het |
| Brd8 |
A |
G |
18: 34,739,740 (GRCm39) |
F678L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
| C87436 |
T |
A |
6: 86,423,411 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
A |
T |
17: 25,594,225 (GRCm39) |
I2311K |
probably benign |
Het |
| Ccng2 |
C |
G |
5: 93,421,202 (GRCm39) |
S237R |
probably benign |
Het |
| Cux1 |
T |
C |
5: 136,392,161 (GRCm39) |
T187A |
probably benign |
Het |
| Dip2b |
A |
G |
15: 100,088,922 (GRCm39) |
I1031V |
probably benign |
Het |
| Efna5 |
T |
C |
17: 62,957,929 (GRCm39) |
N109S |
possibly damaging |
Het |
| Fat2 |
A |
T |
11: 55,202,046 (GRCm39) |
S343T |
probably benign |
Het |
| Fubp1 |
T |
C |
3: 151,937,928 (GRCm39) |
Y654H |
unknown |
Het |
| Gbe1 |
G |
A |
16: 70,238,059 (GRCm39) |
V282I |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,720,121 (GRCm39) |
K719E |
|
Het |
| Grm6 |
A |
T |
11: 50,750,457 (GRCm39) |
Y540F |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,620,722 (GRCm39) |
V1163I |
probably benign |
Het |
| Igkv4-53 |
T |
A |
6: 69,625,987 (GRCm39) |
Q60L |
possibly damaging |
Het |
| Igkv4-59 |
A |
T |
6: 69,415,337 (GRCm39) |
S73T |
probably damaging |
Het |
| Il1a |
A |
C |
2: 129,142,762 (GRCm39) |
W228G |
probably damaging |
Het |
| Klk13 |
A |
G |
7: 43,370,403 (GRCm39) |
D22G |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,913,850 (GRCm39) |
C602S |
probably damaging |
Het |
| Kras |
T |
C |
6: 145,170,848 (GRCm39) |
K176E |
probably benign |
Het |
| Krtap5-4 |
G |
A |
7: 141,857,585 (GRCm39) |
C85Y |
unknown |
Het |
| Map3k13 |
A |
G |
16: 21,741,069 (GRCm39) |
T799A |
probably benign |
Het |
| Mfhas1 |
T |
C |
8: 36,056,697 (GRCm39) |
Y391H |
probably damaging |
Het |
| Morf4l1 |
G |
A |
9: 89,975,859 (GRCm39) |
A311V |
possibly damaging |
Het |
| Ms4a8a |
T |
A |
19: 11,056,848 (GRCm39) |
Q78L |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nav3 |
T |
C |
10: 109,689,359 (GRCm39) |
N306S |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,956,519 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
A |
18: 36,330,140 (GRCm39) |
Y25F |
unknown |
Het |
| Nup153 |
C |
T |
13: 46,835,084 (GRCm39) |
S1407N |
probably benign |
Het |
| Or2c1 |
T |
A |
16: 3,656,658 (GRCm39) |
|
probably null |
Het |
| Or4c99 |
A |
G |
2: 88,329,999 (GRCm39) |
Y190C |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,628 (GRCm39) |
Y34C |
probably damaging |
Het |
| Pcf11 |
A |
C |
7: 92,310,534 (GRCm39) |
S485A |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 80,973,819 (GRCm39) |
D592G |
probably damaging |
Het |
| Perm1 |
G |
A |
4: 156,302,046 (GRCm39) |
G197R |
probably damaging |
Het |
| Pigo |
A |
T |
4: 43,020,671 (GRCm39) |
M757K |
probably benign |
Het |
| Pls1 |
G |
A |
9: 95,667,558 (GRCm39) |
Q117* |
probably null |
Het |
| Plscr2 |
T |
C |
9: 92,169,781 (GRCm39) |
V77A |
probably benign |
Het |
| Polm |
T |
C |
11: 5,781,695 (GRCm39) |
E267G |
probably benign |
Het |
| Pomgnt1 |
A |
T |
4: 116,015,106 (GRCm39) |
K519M |
probably damaging |
Het |
| Ralyl |
G |
A |
3: 14,104,850 (GRCm39) |
|
probably null |
Het |
| Rhbdd3 |
C |
T |
11: 5,055,832 (GRCm39) |
T338I |
possibly damaging |
Het |
| Rnf31 |
T |
C |
14: 55,830,534 (GRCm39) |
|
probably null |
Het |
| Slc51a |
A |
T |
16: 32,297,601 (GRCm39) |
S99T |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,285,032 (GRCm39) |
L700H |
probably damaging |
Het |
| Tdrd7 |
G |
A |
4: 46,025,684 (GRCm39) |
V835I |
probably benign |
Het |
| Tmcc3 |
T |
C |
10: 94,414,397 (GRCm39) |
V64A |
probably benign |
Het |
| Tmprss5 |
A |
G |
9: 49,020,391 (GRCm39) |
S140G |
probably benign |
Het |
| Tspan11 |
G |
T |
6: 127,900,629 (GRCm39) |
V67F |
possibly damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,326 (GRCm39) |
E238V |
probably damaging |
Het |
| Wdpcp |
T |
A |
11: 21,661,486 (GRCm39) |
W253R |
probably benign |
Het |
| Zdhhc23 |
A |
T |
16: 43,789,663 (GRCm39) |
V375E |
probably damaging |
Het |
| Zkscan5 |
A |
C |
5: 145,157,676 (GRCm39) |
H726P |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,941,496 (GRCm39) |
M964K |
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 |
|
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'- ATGAACTCTGAGAGGCAAGTTTTG -3'
(R):5'- AGGCTCATCGCACTTCTACC -3'
Sequencing Primer
(F):5'- TCTATAATCAGAAAAGCAAAAGCTCC -3'
(R):5'- CTTCTACCCACAGTACAGAGTATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation