Incidental Mutation 'R8119:Usp40'
| ID |
643838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
067548-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8119 (G1)
|
| Quality Score |
210.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to T
at 87895400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040783
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
344 |
1.1e-31 |
PFAM |
|
Pfam:UCH_1
|
41 |
320 |
1.2e-20 |
PFAM |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000187758
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
346 |
8.7e-41 |
PFAM |
|
Pfam:UCH_1
|
41 |
319 |
2.4e-22 |
PFAM |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188332
|
| SMART Domains |
Protein: ENSMUSP00000140574
Gene: ENSMUSG00000005501
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
40 |
70 |
5.9e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189409
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.7%
- 20x: 95.2%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP40 belongs to a large family of cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 [PubMed 14715245]).[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
All alleles(4) : Targeted, other(2) Gene trapped(2) |
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
C |
11: 110,087,930 (GRCm39) |
I1066V |
probably benign |
Het |
| Abcd2 |
T |
C |
15: 91,033,197 (GRCm39) |
T740A |
probably benign |
Het |
| Amigo1 |
T |
C |
3: 108,094,852 (GRCm39) |
L117P |
probably damaging |
Het |
| Ankar |
A |
T |
1: 72,686,160 (GRCm39) |
S1347T |
probably damaging |
Het |
| Apol7e |
T |
C |
15: 77,601,956 (GRCm39) |
S185P |
probably damaging |
Het |
| Ash1l |
G |
A |
3: 88,942,734 (GRCm39) |
C2088Y |
probably damaging |
Het |
| Atrnl1 |
A |
G |
19: 57,630,895 (GRCm39) |
T221A |
probably benign |
Het |
| Caln1 |
A |
G |
5: 130,851,825 (GRCm39) |
S205G |
probably damaging |
Het |
| Cfap54 |
T |
C |
10: 92,704,672 (GRCm39) |
I2803V |
unknown |
Het |
| Cfh |
A |
C |
1: 140,047,753 (GRCm39) |
F477V |
possibly damaging |
Het |
| Cldn23 |
A |
G |
8: 36,293,056 (GRCm39) |
V144A |
probably damaging |
Het |
| Csmd1 |
A |
G |
8: 17,077,310 (GRCm39) |
S116P |
probably damaging |
Het |
| Dgkd |
A |
T |
1: 87,845,689 (GRCm39) |
T299S |
possibly damaging |
Het |
| Fam20b |
T |
G |
1: 156,518,072 (GRCm39) |
T241P |
probably damaging |
Het |
| Fndc3b |
A |
T |
3: 27,505,493 (GRCm39) |
M925K |
probably benign |
Het |
| Ftdc1 |
C |
A |
16: 58,437,211 (GRCm39) |
M32I |
probably benign |
Het |
| Ints3 |
C |
T |
3: 90,299,607 (GRCm39) |
R987Q |
probably damaging |
Het |
| Kctd10 |
A |
G |
5: 114,505,316 (GRCm39) |
V226A |
probably damaging |
Het |
| Lypd2 |
A |
G |
15: 74,604,881 (GRCm39) |
V38A |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,909,156 (GRCm39) |
R265G |
possibly damaging |
Het |
| Mcc |
C |
T |
18: 44,601,500 (GRCm39) |
V610M |
possibly damaging |
Het |
| Mocs1 |
C |
T |
17: 49,756,547 (GRCm39) |
R244C |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,103,232 (GRCm39) |
T677A |
probably damaging |
Het |
| Ngp |
A |
G |
9: 110,251,421 (GRCm39) |
N150D |
probably benign |
Het |
| Nipbl |
C |
T |
15: 8,388,696 (GRCm39) |
R308Q |
probably benign |
Het |
| Nsrp1 |
A |
G |
11: 76,939,177 (GRCm39) |
|
probably null |
Het |
| Or2y16 |
A |
T |
11: 49,334,953 (GRCm39) |
I92F |
probably damaging |
Het |
| Or4f47 |
T |
A |
2: 111,972,908 (GRCm39) |
I206N |
probably damaging |
Het |
| Or52n20 |
A |
T |
7: 104,320,061 (GRCm39) |
I51F |
probably damaging |
Het |
| Pbld2 |
A |
T |
10: 62,889,656 (GRCm39) |
D146V |
probably benign |
Het |
| Prss22 |
T |
A |
17: 24,213,701 (GRCm39) |
K197* |
probably null |
Het |
| Ptprd |
G |
T |
4: 76,047,263 (GRCm39) |
S87R |
probably benign |
Het |
| Rictor |
C |
T |
15: 6,801,635 (GRCm39) |
S441L |
probably benign |
Het |
| Slc25a35 |
T |
C |
11: 68,862,798 (GRCm39) |
L251S |
probably benign |
Het |
| Slx4 |
A |
T |
16: 3,803,136 (GRCm39) |
L1226* |
probably null |
Het |
| Smarca4 |
T |
C |
9: 21,558,922 (GRCm39) |
V651A |
possibly damaging |
Het |
| Smarcad1 |
T |
C |
6: 65,071,303 (GRCm39) |
F583L |
probably benign |
Het |
| Taf2 |
T |
C |
15: 54,894,526 (GRCm39) |
K932E |
probably benign |
Het |
| Trav8d-1 |
A |
T |
14: 53,016,425 (GRCm39) |
T104S |
probably benign |
Het |
| Trmt9b |
G |
A |
8: 36,965,576 (GRCm39) |
W32* |
probably null |
Het |
| Trpm4 |
A |
T |
7: 44,976,552 (GRCm39) |
V155D |
probably damaging |
Het |
| Ttc6 |
A |
T |
12: 57,752,429 (GRCm39) |
Y1445F |
possibly damaging |
Het |
| Ttll5 |
C |
A |
12: 86,067,322 (GRCm39) |
N1270K |
probably damaging |
Het |
| Vmn2r74 |
T |
C |
7: 85,610,690 (GRCm39) |
M1V |
probably null |
Het |
| Wwox |
T |
C |
8: 115,433,108 (GRCm39) |
V258A |
probably damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp770 |
G |
A |
2: 114,027,508 (GRCm39) |
T187I |
probably damaging |
Het |
| Zranb2 |
A |
G |
3: 157,241,969 (GRCm39) |
|
probably null |
Het |
| Zscan4-ps3 |
A |
G |
7: 11,344,267 (GRCm39) |
Q75R |
probably damaging |
Het |
|
| Other mutations in Usp40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Usp40
|
APN |
1 |
87,931,960 (GRCm39) |
splice site |
probably benign |
|
|
IGL00828:Usp40
|
APN |
1 |
87,906,028 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01090:Usp40
|
APN |
1 |
87,890,187 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01123:Usp40
|
APN |
1 |
87,913,845 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01401:Usp40
|
APN |
1 |
87,921,920 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Usp40
|
APN |
1 |
87,909,738 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02580:Usp40
|
APN |
1 |
87,908,688 (GRCm39) |
splice site |
probably null |
|
|
IGL02625:Usp40
|
APN |
1 |
87,877,739 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02811:Usp40
|
APN |
1 |
87,923,458 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02958:Usp40
|
APN |
1 |
87,906,207 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Brink
|
UTSW |
1 |
87,908,755 (GRCm39) |
missense |
probably benign |
0.11 |
|
void
|
UTSW |
1 |
87,923,435 (GRCm39) |
nonsense |
probably null |
|
|
G5030:Usp40
|
UTSW |
1 |
87,921,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0019:Usp40
|
UTSW |
1 |
87,906,133 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0282:Usp40
|
UTSW |
1 |
87,908,680 (GRCm39) |
splice site |
probably benign |
|
|
R0453:Usp40
|
UTSW |
1 |
87,874,320 (GRCm39) |
makesense |
probably null |
|
|
R0646:Usp40
|
UTSW |
1 |
87,906,244 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Usp40
|
UTSW |
1 |
87,909,808 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1490:Usp40
|
UTSW |
1 |
87,916,687 (GRCm39) |
nonsense |
probably null |
|
|
R1620:Usp40
|
UTSW |
1 |
87,921,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1881:Usp40
|
UTSW |
1 |
87,921,993 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1903:Usp40
|
UTSW |
1 |
87,909,778 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1912:Usp40
|
UTSW |
1 |
87,874,368 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1919:Usp40
|
UTSW |
1 |
87,923,564 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1976:Usp40
|
UTSW |
1 |
87,906,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2111:Usp40
|
UTSW |
1 |
87,877,936 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2112:Usp40
|
UTSW |
1 |
87,877,936 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2163:Usp40
|
UTSW |
1 |
87,923,580 (GRCm39) |
splice site |
probably benign |
|
|
R2432:Usp40
|
UTSW |
1 |
87,909,804 (GRCm39) |
missense |
probably benign |
|
|
R2865:Usp40
|
UTSW |
1 |
87,877,701 (GRCm39) |
nonsense |
probably null |
|
|
R3885:Usp40
|
UTSW |
1 |
87,894,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4360:Usp40
|
UTSW |
1 |
87,880,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Usp40
|
UTSW |
1 |
87,925,597 (GRCm39) |
missense |
probably benign |
|
|
R4496:Usp40
|
UTSW |
1 |
87,923,459 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4714:Usp40
|
UTSW |
1 |
87,894,901 (GRCm39) |
splice site |
probably null |
|
|
R4888:Usp40
|
UTSW |
1 |
87,913,923 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4944:Usp40
|
UTSW |
1 |
87,880,077 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5269:Usp40
|
UTSW |
1 |
87,923,504 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5629:Usp40
|
UTSW |
1 |
87,908,731 (GRCm39) |
missense |
probably benign |
|
|
R5696:Usp40
|
UTSW |
1 |
87,923,474 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5756:Usp40
|
UTSW |
1 |
87,879,413 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5887:Usp40
|
UTSW |
1 |
87,927,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Usp40
|
UTSW |
1 |
87,896,122 (GRCm39) |
nonsense |
probably null |
|
|
R6014:Usp40
|
UTSW |
1 |
87,907,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Usp40
|
UTSW |
1 |
87,917,872 (GRCm39) |
missense |
probably benign |
|
|
R6083:Usp40
|
UTSW |
1 |
87,906,281 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6299:Usp40
|
UTSW |
1 |
87,925,649 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6625:Usp40
|
UTSW |
1 |
87,894,935 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6757:Usp40
|
UTSW |
1 |
87,907,759 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6810:Usp40
|
UTSW |
1 |
87,908,755 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7110:Usp40
|
UTSW |
1 |
87,913,884 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7573:Usp40
|
UTSW |
1 |
87,913,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7575:Usp40
|
UTSW |
1 |
87,877,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7634:Usp40
|
UTSW |
1 |
87,890,152 (GRCm39) |
nonsense |
probably null |
|
|
R7756:Usp40
|
UTSW |
1 |
87,894,922 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7767:Usp40
|
UTSW |
1 |
87,909,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7861:Usp40
|
UTSW |
1 |
87,909,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7881:Usp40
|
UTSW |
1 |
87,923,435 (GRCm39) |
nonsense |
probably null |
|
|
R7896:Usp40
|
UTSW |
1 |
87,906,201 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8354:Usp40
|
UTSW |
1 |
87,908,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8358:Usp40
|
UTSW |
1 |
87,908,770 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R8425:Usp40
|
UTSW |
1 |
87,887,558 (GRCm39) |
missense |
probably benign |
|
|
R8446:Usp40
|
UTSW |
1 |
87,906,190 (GRCm39) |
missense |
probably benign |
|
|
R8454:Usp40
|
UTSW |
1 |
87,908,694 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8744:Usp40
|
UTSW |
1 |
87,911,491 (GRCm39) |
missense |
probably benign |
|
|
R9002:Usp40
|
UTSW |
1 |
87,935,063 (GRCm39) |
missense |
probably benign |
|
|
R9033:Usp40
|
UTSW |
1 |
87,923,499 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R9210:Usp40
|
UTSW |
1 |
87,885,035 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9245:Usp40
|
UTSW |
1 |
87,878,009 (GRCm39) |
missense |
probably benign |
|
|
R9331:Usp40
|
UTSW |
1 |
87,901,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9378:Usp40
|
UTSW |
1 |
87,885,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Usp40
|
UTSW |
1 |
87,881,889 (GRCm39) |
missense |
probably benign |
|
|
R9501:Usp40
|
UTSW |
1 |
87,925,557 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Usp40
|
UTSW |
1 |
87,935,161 (GRCm39) |
start gained |
probably benign |
|
|
R9537:Usp40
|
UTSW |
1 |
87,935,117 (GRCm39) |
missense |
probably benign |
0.01 |
|
RF006:Usp40
|
UTSW |
1 |
87,894,917 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1177:Usp40
|
UTSW |
1 |
87,896,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGAGAGGAAGTTGGTGC -3'
(R):5'- CTTAGCATTGTGGTACAAGGTAATGAG -3'
Sequencing Primer
(F):5'- GAAGTTGGTGCTTTTCCCAGACAC -3'
(R):5'- TTGTGGTACAAGGTAATGAGAGTAC -3'
|
| Posted On |
2020-08-28 |
Incidental Mutation