Incidental Mutation 'R9331:Usp40'
| ID |
706823 |
| 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 # |
R9331 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87901828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 785
(I785T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040783]
[ENSMUST00000187758]
[ENSMUST00000188332]
|
| AlphaFold |
Q8BWR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040783
AA Change: I785T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: I785T
| 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 damaging
Transcript: ENSMUST00000187758
AA Change: I785T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: I785T
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
A |
G |
17: 24,616,324 (GRCm39) |
E922G |
probably benign |
Het |
| Abca8a |
A |
G |
11: 109,917,154 (GRCm39) |
L1615P |
probably damaging |
Het |
| Actrt3 |
T |
C |
3: 30,652,050 (GRCm39) |
D348G |
probably damaging |
Het |
| Adam3 |
A |
G |
8: 25,177,951 (GRCm39) |
M654T |
probably benign |
Het |
| Adamts8 |
A |
T |
9: 30,862,770 (GRCm39) |
H325L |
probably damaging |
Het |
| Agpat2 |
A |
G |
2: 26,487,318 (GRCm39) |
Y72H |
probably benign |
Het |
| Ap3m1 |
A |
G |
14: 21,095,666 (GRCm39) |
Y55H |
possibly damaging |
Het |
| Cacna1a |
C |
T |
8: 85,142,446 (GRCm39) |
A58V |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 119,084,909 (GRCm39) |
V10I |
|
Het |
| Ccnt1 |
T |
A |
15: 98,441,097 (GRCm39) |
K724* |
probably null |
Het |
| Cd72 |
T |
A |
4: 43,454,320 (GRCm39) |
T38S |
possibly damaging |
Het |
| Crispld1 |
T |
A |
1: 17,832,454 (GRCm39) |
I480K |
probably damaging |
Het |
| Diaph3 |
G |
T |
14: 87,378,461 (GRCm39) |
Y30* |
probably null |
Het |
| Ei24 |
A |
G |
9: 36,701,217 (GRCm39) |
I34T |
possibly damaging |
Het |
| Fdxacb1 |
G |
A |
9: 50,681,511 (GRCm39) |
S144N |
probably damaging |
Het |
| Fgf21 |
G |
T |
7: 45,263,614 (GRCm39) |
Q155K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,295,664 (GRCm39) |
R310S |
probably benign |
Het |
| Gm44501 |
G |
A |
17: 40,889,620 (GRCm39) |
V45I |
probably benign |
Het |
| Gne |
A |
G |
4: 44,066,845 (GRCm39) |
L56P |
probably damaging |
Het |
| Hcn4 |
T |
C |
9: 58,767,705 (GRCm39) |
S1089P |
probably damaging |
Het |
| Hexim1 |
C |
T |
11: 103,007,974 (GRCm39) |
T76M |
probably damaging |
Het |
| Hkdc1 |
A |
T |
10: 62,236,114 (GRCm39) |
L476* |
probably null |
Het |
| Hoxd8 |
CGCGGCGGCGGCGGCGGC |
CGCGGCGGCGGCGGC |
2: 74,535,942 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
A |
T |
6: 24,765,866 (GRCm39) |
I407L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,699,878 (GRCm39) |
Y78C |
possibly damaging |
Het |
| Kif20a |
T |
A |
18: 34,762,562 (GRCm39) |
C478* |
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,922,965 (GRCm39) |
R34Q |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,014,238 (GRCm39) |
V693A |
probably damaging |
Het |
| Muc5b |
C |
A |
7: 141,411,475 (GRCm39) |
Q1474K |
unknown |
Het |
| Nos1 |
T |
C |
5: 118,038,589 (GRCm39) |
V474A |
possibly damaging |
Het |
| Nprl2 |
G |
A |
9: 107,421,955 (GRCm39) |
V244M |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,448,068 (GRCm39) |
S236P |
probably damaging |
Het |
| Or8b9 |
G |
A |
9: 37,766,710 (GRCm39) |
V199I |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,279,003 (GRCm39) |
S44G |
probably benign |
Het |
| P2rx7 |
T |
C |
5: 122,818,961 (GRCm39) |
L461P |
probably benign |
Het |
| Pacc1 |
T |
C |
1: 191,077,318 (GRCm39) |
|
probably null |
Het |
| Pde12 |
T |
C |
14: 26,389,828 (GRCm39) |
I294V |
probably benign |
Het |
| Plcl1 |
T |
C |
1: 55,736,030 (GRCm39) |
L457P |
possibly damaging |
Het |
| Plekho2 |
C |
A |
9: 65,463,866 (GRCm39) |
A328S |
probably benign |
Het |
| Polg |
T |
C |
7: 79,108,148 (GRCm39) |
K556E |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,062 (GRCm39) |
S76P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,671,707 (GRCm39) |
C37S |
probably benign |
Het |
| Pwwp2b |
G |
A |
7: 138,835,357 (GRCm39) |
G266D |
probably damaging |
Het |
| Pygm |
T |
C |
19: 6,448,129 (GRCm39) |
F812L |
probably damaging |
Het |
| Smarcc2 |
A |
T |
10: 128,323,310 (GRCm39) |
T982S |
unknown |
Het |
| Spata31e2 |
T |
C |
1: 26,722,790 (GRCm39) |
R797G |
probably benign |
Het |
| Syne1 |
C |
G |
10: 5,073,666 (GRCm39) |
V1226L |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
T |
C |
5: 24,650,985 (GRCm39) |
T225A |
probably damaging |
Het |
| Trmo |
A |
C |
4: 46,387,642 (GRCm39) |
C59W |
possibly damaging |
Het |
| Ttc6 |
C |
A |
12: 57,720,509 (GRCm39) |
A925D |
probably damaging |
Het |
| Tubb1 |
A |
G |
2: 174,297,472 (GRCm39) |
E27G |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,450,723 (GRCm39) |
C503Y |
probably damaging |
Het |
| Vmn2r32 |
G |
A |
7: 7,467,402 (GRCm39) |
Q709* |
probably null |
Het |
| Xaf1 |
T |
C |
11: 72,197,470 (GRCm39) |
S149P |
probably damaging |
Het |
| Ythdc2 |
T |
A |
18: 44,970,499 (GRCm39) |
V271E |
possibly damaging |
Het |
| Zfp386 |
C |
T |
12: 116,011,433 (GRCm39) |
|
probably benign |
Het |
| Zfp456 |
T |
A |
13: 67,514,389 (GRCm39) |
E439V |
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 |
|
|
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'- TGAATACAGCTGAGTCAGACAG -3'
(R):5'- GTCTTACAGAATAATGTCAGGGATGGC -3'
Sequencing Primer
(F):5'- CTGAGTCAGACAGCGCAC -3'
(R):5'- TGTCAGGGATGGCTAATAAACTCTG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation