Incidental Mutation 'R6275:Usp42'
| ID |
507571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp42
|
| Ensembl Gene |
ENSMUSG00000051306 |
| Gene Name |
ubiquitin specific peptidase 42 |
| Synonyms |
3110031A07Rik, 2410140K03Rik, A630018G05Rik, D5Ertd591e |
| MMRRC Submission |
044445-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
143696080-143718035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 143700727 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 1099
(R1099W)
|
| 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: R1099W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000053955
Gene: ENSMUSG00000051306
AA Change: R1099W
| 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
|
| Meta Mutation Damage Score |
0.5169 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (56/57) |
| 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 |
|---|
| Abca7 |
T |
A |
10: 79,833,625 (GRCm39) |
L30H |
probably damaging |
Het |
| Abcb6 |
T |
C |
1: 75,149,195 (GRCm39) |
|
probably null |
Het |
| Acsbg1 |
T |
A |
9: 54,517,056 (GRCm39) |
M586L |
probably benign |
Het |
| Ano6 |
A |
T |
15: 95,811,314 (GRCm39) |
Y159F |
probably damaging |
Het |
| C1ql1 |
A |
G |
11: 102,830,575 (GRCm39) |
I254T |
probably damaging |
Het |
| Ccdc81 |
T |
C |
7: 89,531,519 (GRCm39) |
D318G |
possibly damaging |
Het |
| Ccr7 |
C |
T |
11: 99,036,489 (GRCm39) |
M144I |
probably damaging |
Het |
| Cdca3 |
C |
T |
6: 124,809,627 (GRCm39) |
|
probably null |
Het |
| Ces1h |
A |
T |
8: 94,099,274 (GRCm39) |
L93I |
probably benign |
Het |
| Cntfr |
T |
C |
4: 41,663,216 (GRCm39) |
D197G |
possibly damaging |
Het |
| Cyp2d12 |
C |
A |
15: 82,440,859 (GRCm39) |
P126T |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,862,248 (GRCm39) |
T2225A |
probably damaging |
Het |
| Edrf1 |
A |
T |
7: 133,269,311 (GRCm39) |
N1147Y |
possibly damaging |
Het |
| Eif1ad15 |
T |
C |
12: 88,287,995 (GRCm39) |
D86G |
possibly damaging |
Het |
| Eif1ad16 |
T |
C |
12: 87,985,255 (GRCm39) |
N96S |
probably benign |
Het |
| Ermap |
C |
T |
4: 119,035,747 (GRCm39) |
V414M |
probably damaging |
Het |
| Fam13a |
A |
G |
6: 58,931,242 (GRCm39) |
I446T |
probably damaging |
Het |
| Fgfbp3 |
T |
C |
19: 36,896,153 (GRCm39) |
H155R |
possibly damaging |
Het |
| Folr1 |
T |
A |
7: 101,508,742 (GRCm39) |
N61I |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,035,583 (GRCm39) |
I431V |
probably benign |
Het |
| Gm5493 |
A |
T |
17: 22,969,043 (GRCm39) |
E74D |
probably benign |
Het |
| H2-Oa |
A |
G |
17: 34,313,540 (GRCm39) |
D197G |
probably benign |
Het |
| Hps1 |
T |
C |
19: 42,758,046 (GRCm39) |
E169G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,457,308 (GRCm39) |
M372L |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,565,501 (GRCm39) |
S1042G |
probably benign |
Het |
| Jchain |
A |
T |
5: 88,669,212 (GRCm39) |
V147E |
probably damaging |
Het |
| Laptm4b |
A |
G |
15: 34,283,473 (GRCm39) |
T211A |
probably benign |
Het |
| Mal2 |
T |
C |
15: 54,435,035 (GRCm39) |
|
probably null |
Het |
| Mov10l1 |
T |
A |
15: 88,910,823 (GRCm39) |
I1071N |
probably damaging |
Het |
| Mpp2 |
T |
A |
11: 101,951,795 (GRCm39) |
Y401F |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,965,610 (GRCm39) |
T1172A |
probably benign |
Het |
| Or51q1 |
T |
A |
7: 103,629,181 (GRCm39) |
S261T |
probably damaging |
Het |
| Pcnx1 |
G |
T |
12: 81,965,381 (GRCm39) |
S516I |
probably benign |
Het |
| Pidd1 |
C |
T |
7: 141,019,708 (GRCm39) |
A685T |
probably damaging |
Het |
| Psg28 |
A |
C |
7: 18,164,365 (GRCm39) |
Y116D |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,329,458 (GRCm39) |
|
probably benign |
Het |
| Rapgefl1 |
T |
A |
11: 98,741,946 (GRCm39) |
Y637N |
probably damaging |
Het |
| Rbm25 |
T |
A |
12: 83,691,206 (GRCm39) |
M66K |
probably damaging |
Het |
| Rnf38 |
T |
A |
4: 44,152,408 (GRCm39) |
H52L |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,130 (GRCm39) |
|
probably benign |
Het |
| Sec62 |
A |
G |
3: 30,863,985 (GRCm39) |
Q89R |
probably damaging |
Het |
| Serpina6 |
T |
A |
12: 103,614,979 (GRCm39) |
Q289L |
probably benign |
Het |
| Sf3b2 |
A |
C |
19: 5,333,678 (GRCm39) |
I640S |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc26a11 |
T |
C |
11: 119,250,125 (GRCm39) |
F127L |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,121,202 (GRCm39) |
D3936G |
probably damaging |
Het |
| Stac3 |
T |
A |
10: 127,343,615 (GRCm39) |
Y252* |
probably null |
Het |
| Stoml3 |
G |
A |
3: 53,414,927 (GRCm39) |
A240T |
probably damaging |
Het |
| Tanc1 |
A |
T |
2: 59,673,854 (GRCm39) |
H1653L |
probably benign |
Het |
| Tll1 |
A |
T |
8: 64,504,401 (GRCm39) |
L665* |
probably null |
Het |
| Tnr |
A |
C |
1: 159,688,840 (GRCm39) |
Q434P |
probably damaging |
Het |
| Tpgs1 |
C |
A |
10: 79,511,354 (GRCm39) |
D165E |
probably benign |
Het |
| Tsc2 |
A |
G |
17: 24,819,394 (GRCm39) |
V1185A |
probably benign |
Het |
| Tulp4 |
A |
G |
17: 6,249,011 (GRCm39) |
H203R |
probably damaging |
Het |
| Txnl4a |
T |
A |
18: 80,261,980 (GRCm39) |
M72K |
possibly damaging |
Het |
| Zfp292 |
G |
A |
4: 34,808,883 (GRCm39) |
A1387V |
possibly damaging |
Het |
| Zfp994 |
A |
T |
17: 22,418,972 (GRCm39) |
L659* |
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 |
|
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 |
|
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'- GTTCATGAAAGCGCTCAGGG -3'
(R):5'- CCACTCACGGATTAGGAGTG -3'
Sequencing Primer
(F):5'- GAGACTGTGGCTGCTGTCC -3'
(R):5'- AGCCGGTACCACCATTTG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation