Incidental Mutation 'R9501:Usp40'
| ID |
717541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9501 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87925557 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 224
(D224G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040783
AA Change: D224G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: D224G
| 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 benign
Transcript: ENSMUST00000187758
AA Change: D224G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: D224G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,214,853 (GRCm39) |
V439D |
probably damaging |
Het |
| Abcf3 |
T |
C |
16: 20,379,125 (GRCm39) |
S664P |
probably damaging |
Het |
| Anp32a |
A |
G |
9: 62,282,019 (GRCm39) |
S202G |
unknown |
Het |
| Aste1 |
G |
A |
9: 105,273,880 (GRCm39) |
C40Y |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,735,032 (GRCm39) |
K782R |
probably benign |
Het |
| Bach1 |
A |
G |
16: 87,515,999 (GRCm39) |
Q180R |
probably benign |
Het |
| Ccdc149 |
A |
G |
5: 52,542,477 (GRCm39) |
S372P |
probably benign |
Het |
| Chd2 |
T |
C |
7: 73,091,481 (GRCm39) |
S1587G |
possibly damaging |
Het |
| Chd2 |
A |
T |
7: 73,130,294 (GRCm39) |
I787N |
probably damaging |
Het |
| Chd8 |
T |
A |
14: 52,452,045 (GRCm39) |
I1317L |
probably benign |
Het |
| Clca3a2 |
C |
A |
3: 144,777,322 (GRCm39) |
E850* |
probably null |
Het |
| Clpb |
G |
A |
7: 101,427,780 (GRCm39) |
G375D |
probably damaging |
Het |
| Cobl |
T |
A |
11: 12,328,235 (GRCm39) |
I124F |
possibly damaging |
Het |
| Cope |
A |
G |
8: 70,765,363 (GRCm39) |
N271S |
probably benign |
Het |
| Cyp11b2 |
T |
C |
15: 74,722,961 (GRCm39) |
D479G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,419,041 (GRCm39) |
C611S |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,928,992 (GRCm39) |
V1299L |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,227,849 (GRCm39) |
Y1814C |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,209,130 (GRCm39) |
C1082R |
probably damaging |
Het |
| Fbxw22 |
A |
T |
9: 109,207,920 (GRCm39) |
N450K |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,470,990 (GRCm39) |
I4925F |
possibly damaging |
Het |
| Iho1 |
A |
T |
9: 108,282,500 (GRCm39) |
V396E |
probably benign |
Het |
| Kin |
G |
T |
2: 10,085,478 (GRCm39) |
A13S |
probably benign |
Het |
| Lrp1b |
G |
A |
2: 41,172,247 (GRCm39) |
R1581C |
|
Het |
| Myl2 |
T |
C |
5: 122,241,921 (GRCm39) |
I66T |
probably benign |
Het |
| Npy5r |
A |
G |
8: 67,134,137 (GRCm39) |
C219R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oosp1 |
A |
T |
19: 11,664,757 (GRCm39) |
Y100N |
probably damaging |
Het |
| Pdk4 |
A |
G |
6: 5,491,084 (GRCm39) |
L227P |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,177 (GRCm39) |
E240D |
probably benign |
Het |
| Pi4ka |
A |
G |
16: 17,204,156 (GRCm39) |
L46P |
|
Het |
| Pik3ca |
A |
G |
3: 32,504,062 (GRCm39) |
Y584C |
probably damaging |
Het |
| Prnp |
T |
C |
2: 131,779,037 (GRCm39) |
S230P |
probably benign |
Het |
| Rftn2 |
A |
G |
1: 55,241,355 (GRCm39) |
F315S |
possibly damaging |
Het |
| Rp1l1 |
A |
G |
14: 64,266,039 (GRCm39) |
R542G |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,582,579 (GRCm39) |
N106S |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,603,122 (GRCm39) |
N775K |
probably damaging |
Het |
| Slc13a2 |
G |
A |
11: 78,291,633 (GRCm39) |
T340M |
probably damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,875,257 (GRCm39) |
Y438C |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,617,977 (GRCm39) |
Q336R |
probably benign |
Het |
| Snx7 |
A |
G |
3: 117,632,611 (GRCm39) |
V160A |
possibly damaging |
Het |
| Stim1 |
A |
T |
7: 102,060,506 (GRCm39) |
D183V |
possibly damaging |
Het |
| Strn3 |
A |
T |
12: 51,696,956 (GRCm39) |
D258E |
probably damaging |
Het |
| Stxbp1 |
G |
A |
2: 32,692,825 (GRCm39) |
A397V |
probably benign |
Het |
| Tacr3 |
A |
G |
3: 134,535,092 (GRCm39) |
H20R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,718,923 (GRCm39) |
D2626E |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,858,265 (GRCm39) |
M694T |
possibly damaging |
Het |
| Tpp1 |
G |
A |
7: 105,398,464 (GRCm39) |
A284V |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,176,943 (GRCm39) |
T327S |
probably benign |
Het |
| Trim14 |
A |
G |
4: 46,510,404 (GRCm39) |
W274R |
unknown |
Het |
| Tshz2 |
A |
T |
2: 169,725,759 (GRCm39) |
E118D |
probably benign |
Het |
| Tshz3 |
A |
G |
7: 36,470,980 (GRCm39) |
T990A |
probably damaging |
Het |
| Vmn2r130 |
A |
G |
17: 23,282,650 (GRCm39) |
Q110R |
probably benign |
Het |
| Zscan2 |
A |
G |
7: 80,525,890 (GRCm39) |
K537R |
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 |
|
R8119:Usp40
|
UTSW |
1 |
87,895,400 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
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'- CACTCTTCCATGAAAAGTCACTG -3'
(R):5'- CATGAGGTTTTATTGCATCTACGTC -3'
Sequencing Primer
(F):5'- CTCTTCCATGAAAAGTCACTGTTACG -3'
(R):5'- TGCATCTACGTCTAAACTCATAAAC -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation