Incidental Mutation 'PIT4468001:Usp42'
| ID |
555635 |
| 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 # |
PIT4468001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 143700399 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 1208
(K1208M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
[ENSMUST00000116456]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053287
AA Change: K1208M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: K1208M
| 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 |
probably benign
Transcript: ENSMUST00000116456
|
| SMART Domains |
Protein: ENSMUSP00000112157
Gene: ENSMUSG00000018001
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
|
low complexity region
|
14 |
35 |
N/A |
INTRINSIC |
|
Sec7
|
63 |
248 |
3.21e-104 |
SMART |
|
PH
|
265 |
382 |
2.36e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
| Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
| Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
| Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
| Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
| Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
| Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
| Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
| Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
| Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
| Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
| Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
| Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
| Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
| Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
| Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
| Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
| Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
| Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
| Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
| Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
| Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
| Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
| Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
| Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
| Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
| Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
| Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
| Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
| Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
| Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
| Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
| Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
| Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
| Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
| Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
| Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
| Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
| Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
| Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
| Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
| Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
| Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
| Vmn2r83 |
T |
G |
10: 79,313,884 (GRCm39) |
L164R |
probably damaging |
Het |
| Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
| Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
probably benign |
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 |
|
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 |
|
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'- TGTGTGATAGGCCTGGAAGAAC -3'
(R):5'- CATCTCCAAGAGAAGGCTGC -3'
Sequencing Primer
(F):5'- CTGTGAGGGACCAACAACTTC -3'
(R):5'- CTGAGTGTGCAGGACAGC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation