Incidental Mutation 'R5773:Usp42'
| ID |
445498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| MMRRC Submission |
043372-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5773 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 143699467 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1264
(M1264K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000053955
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053287]
[ENSMUST00000116456]
|
| AlphaFold |
B2RQC2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053287
AA Change: M1264K
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: M1264K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141225
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141396
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155408
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,416,614 (GRCm39) |
|
probably null |
Het |
| Akna |
C |
T |
4: 63,313,307 (GRCm39) |
S272N |
probably benign |
Het |
| Ap2m1 |
T |
C |
16: 20,362,140 (GRCm39) |
V416A |
probably damaging |
Het |
| Atp7b |
A |
G |
8: 22,517,879 (GRCm39) |
F320L |
probably benign |
Het |
| Brd1 |
T |
C |
15: 88,573,752 (GRCm39) |
K1116E |
probably benign |
Het |
| Ccdc186 |
T |
C |
19: 56,801,919 (GRCm39) |
D66G |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,527,789 (GRCm39) |
Y503C |
probably damaging |
Het |
| Cfb |
C |
A |
17: 35,076,248 (GRCm39) |
E166* |
probably null |
Het |
| Cmtm1 |
A |
T |
8: 105,031,808 (GRCm39) |
F90I |
probably damaging |
Het |
| Col1a1 |
A |
T |
11: 94,830,255 (GRCm39) |
K160N |
probably benign |
Het |
| Cradd |
T |
C |
10: 95,011,823 (GRCm39) |
I106V |
probably benign |
Het |
| Defa17 |
A |
G |
8: 22,146,574 (GRCm39) |
R67G |
probably damaging |
Het |
| Dgkh |
T |
C |
14: 78,832,895 (GRCm39) |
N765S |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,033,507 (GRCm39) |
V954A |
possibly damaging |
Het |
| Eif2d |
A |
G |
1: 131,086,040 (GRCm39) |
|
probably null |
Het |
| Epg5 |
T |
A |
18: 78,004,040 (GRCm39) |
F683I |
probably damaging |
Het |
| Fhad1 |
T |
G |
4: 141,656,881 (GRCm39) |
K91T |
probably damaging |
Het |
| Fut11 |
A |
T |
14: 20,748,383 (GRCm39) |
D476V |
probably damaging |
Het |
| Gldn |
T |
C |
9: 54,241,775 (GRCm39) |
|
probably null |
Het |
| Gm7247 |
C |
T |
14: 51,601,805 (GRCm39) |
S26F |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,912 (GRCm39) |
|
noncoding transcript |
Het |
| Gtpbp6 |
C |
A |
5: 110,254,757 (GRCm39) |
E168D |
possibly damaging |
Het |
| Hinfp |
T |
A |
9: 44,210,533 (GRCm39) |
H163L |
probably benign |
Het |
| Igkv6-29 |
C |
A |
6: 70,115,584 (GRCm39) |
G70V |
possibly damaging |
Het |
| Ing3 |
T |
A |
6: 21,971,834 (GRCm39) |
C368S |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,356 (GRCm39) |
V489A |
possibly damaging |
Het |
| Itsn2 |
T |
C |
12: 4,757,089 (GRCm39) |
L1393P |
probably damaging |
Het |
| Kcnj13 |
T |
C |
1: 87,314,389 (GRCm39) |
T278A |
probably damaging |
Het |
| Kntc1 |
G |
A |
5: 123,932,220 (GRCm39) |
R1338Q |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,813 (GRCm39) |
T135S |
probably damaging |
Het |
| Map7 |
A |
G |
10: 20,122,390 (GRCm39) |
K152R |
probably benign |
Het |
| Mmp24 |
A |
G |
2: 155,641,829 (GRCm39) |
Y219C |
probably damaging |
Het |
| Nup188 |
T |
C |
2: 30,212,208 (GRCm39) |
V565A |
possibly damaging |
Het |
| Nup210 |
T |
C |
6: 91,062,865 (GRCm39) |
K265E |
probably damaging |
Het |
| Or10ak9 |
A |
G |
4: 118,726,718 (GRCm39) |
T247A |
probably damaging |
Het |
| Pcdha6 |
A |
T |
18: 37,102,643 (GRCm39) |
H612L |
probably benign |
Het |
| Pgpep1 |
G |
A |
8: 71,105,101 (GRCm39) |
T53M |
probably damaging |
Het |
| Pld2 |
G |
T |
11: 70,446,758 (GRCm39) |
S778I |
probably damaging |
Het |
| Ppef2 |
A |
C |
5: 92,398,420 (GRCm39) |
Y33D |
probably damaging |
Het |
| Ppfibp2 |
A |
T |
7: 107,285,079 (GRCm39) |
T129S |
possibly damaging |
Het |
| Prickle1 |
G |
T |
15: 93,406,478 (GRCm39) |
H182N |
probably damaging |
Het |
| R3hdm2 |
T |
A |
10: 127,280,172 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
T |
4: 12,145,765 (GRCm39) |
E579V |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCGGCGGCTGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
T |
G |
10: 78,629,111 (GRCm39) |
|
probably null |
Het |
| Slc27a6 |
G |
T |
18: 58,715,245 (GRCm39) |
A283S |
probably damaging |
Het |
| Spats2l |
T |
A |
1: 57,918,708 (GRCm39) |
N27K |
possibly damaging |
Het |
| Srgap1 |
T |
C |
10: 121,732,614 (GRCm39) |
M155V |
probably benign |
Het |
| Stxbp5l |
C |
A |
16: 37,028,459 (GRCm39) |
A535S |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,099,985 (GRCm39) |
C1353F |
possibly damaging |
Het |
| Taar4 |
T |
A |
10: 23,837,056 (GRCm39) |
I222N |
probably damaging |
Het |
| Tlr6 |
A |
G |
5: 65,111,846 (GRCm39) |
F354L |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,395 (GRCm39) |
S452P |
probably damaging |
Het |
| Ttll5 |
GCCCTGCGGGGCTGCCACGCTGTCGATCCGGCAGCTAC |
G |
12: 85,980,329 (GRCm39) |
|
probably null |
Het |
| Zfp865 |
A |
T |
7: 5,037,693 (GRCm39) |
|
probably benign |
Het |
| Zfyve26 |
A |
T |
12: 79,334,511 (GRCm39) |
L169Q |
probably damaging |
Het |
| Zmym4 |
A |
T |
4: 126,799,163 (GRCm39) |
N383K |
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 |
|
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'- CTTTCCCAAAGTACTTGACTCAGAG -3'
(R):5'- AGCGTAGATGGCAGTTTCCC -3'
Sequencing Primer
(F):5'- CCAAAGTACTTGACTCAGAGCTGTG -3'
(R):5'- GCAGTTTCCCTCGGTGCTAAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation