Incidental Mutation 'R5910:Usp40'
| ID |
460889 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
044107-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5910 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 87896122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 811
(C811*)
|
| 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
AA Change: C811*
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: C811*
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190446
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
| Validation Efficiency |
95% (93/98) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,076 (GRCm39) |
N976D |
probably damaging |
Het |
| Adamts1 |
G |
A |
16: 85,599,037 (GRCm39) |
R188W |
probably benign |
Het |
| Adcy4 |
A |
T |
14: 56,016,470 (GRCm39) |
V327D |
probably damaging |
Het |
| Alg8 |
T |
C |
7: 97,039,493 (GRCm39) |
I408T |
possibly damaging |
Het |
| Ankib1 |
T |
C |
5: 3,743,217 (GRCm39) |
S933G |
probably benign |
Het |
| Ap2a2 |
A |
G |
7: 141,178,691 (GRCm39) |
D106G |
probably damaging |
Het |
| Arhgap22 |
A |
T |
14: 33,088,572 (GRCm39) |
H351L |
probably damaging |
Het |
| Arhgef2 |
A |
G |
3: 88,542,327 (GRCm39) |
Y310C |
probably damaging |
Het |
| Atm |
A |
T |
9: 53,359,380 (GRCm39) |
S2804R |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,807,770 (GRCm39) |
L163P |
possibly damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,645,967 (GRCm39) |
|
probably null |
Het |
| Cdh23 |
A |
G |
10: 60,213,600 (GRCm39) |
V1495A |
possibly damaging |
Het |
| Cep78 |
A |
G |
19: 15,946,492 (GRCm39) |
S447P |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,768,710 (GRCm39) |
T778I |
possibly damaging |
Het |
| Cfap54 |
A |
T |
10: 92,901,043 (GRCm39) |
N170K |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,229,151 (GRCm39) |
L1979Q |
probably damaging |
Het |
| Col15a1 |
A |
T |
4: 47,289,514 (GRCm39) |
E846D |
probably damaging |
Het |
| Col5a1 |
A |
G |
2: 27,926,900 (GRCm39) |
K308E |
possibly damaging |
Het |
| Dcst1 |
T |
A |
3: 89,257,731 (GRCm39) |
T680S |
possibly damaging |
Het |
| Dsp |
T |
C |
13: 38,376,445 (GRCm39) |
L1410P |
possibly damaging |
Het |
| Edem3 |
T |
A |
1: 151,646,578 (GRCm39) |
|
probably null |
Het |
| Efcab3 |
A |
T |
11: 104,581,760 (GRCm39) |
E34V |
probably benign |
Het |
| Eif4e2 |
T |
A |
1: 87,148,696 (GRCm39) |
Y64N |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,784,928 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
T |
16: 47,893,826 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3b |
G |
T |
10: 79,808,855 (GRCm39) |
V202L |
probably benign |
Het |
| Gsdmc4 |
G |
A |
15: 63,767,101 (GRCm39) |
S223F |
possibly damaging |
Het |
| H2bc14 |
A |
G |
13: 21,906,470 (GRCm39) |
N68S |
probably benign |
Het |
| Hbp1 |
T |
C |
12: 31,987,651 (GRCm39) |
H183R |
probably benign |
Het |
| Hectd3 |
A |
G |
4: 116,859,331 (GRCm39) |
M652V |
probably benign |
Het |
| Hmgxb4 |
T |
C |
8: 75,726,193 (GRCm39) |
F13L |
probably benign |
Het |
| Hnrnpab |
T |
C |
11: 51,492,281 (GRCm39) |
K271R |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,412,947 (GRCm39) |
K156N |
probably benign |
Het |
| Iqce |
A |
T |
5: 140,687,973 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
C |
A |
6: 146,231,069 (GRCm39) |
V1194L |
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,804,370 (GRCm39) |
F384L |
probably benign |
Het |
| Klf14 |
A |
G |
6: 30,934,774 (GRCm39) |
Y287H |
probably benign |
Het |
| Klhl6 |
A |
G |
16: 19,775,844 (GRCm39) |
M238T |
probably benign |
Het |
| Lbp |
G |
A |
2: 158,166,477 (GRCm39) |
V344I |
probably benign |
Het |
| Lrp12 |
T |
C |
15: 39,739,439 (GRCm39) |
|
probably null |
Het |
| Mapk7 |
T |
A |
11: 61,384,447 (GRCm39) |
M1L |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,048 (GRCm39) |
T2665A |
possibly damaging |
Het |
| Ncln |
A |
T |
10: 81,331,912 (GRCm39) |
|
probably null |
Het |
| Nfxl1 |
T |
C |
5: 72,697,708 (GRCm39) |
R347G |
probably benign |
Het |
| Npnt |
C |
A |
3: 132,612,179 (GRCm39) |
C231F |
probably damaging |
Het |
| Nrap |
T |
A |
19: 56,330,743 (GRCm39) |
H1070L |
probably benign |
Het |
| Nrxn1 |
G |
T |
17: 91,011,746 (GRCm39) |
Y294* |
probably null |
Het |
| Or4c126 |
A |
G |
2: 89,823,782 (GRCm39) |
D15G |
probably benign |
Het |
| Or9s27 |
T |
C |
1: 92,516,429 (GRCm39) |
Y126H |
probably damaging |
Het |
| Otog |
A |
G |
7: 45,948,022 (GRCm39) |
H2341R |
possibly damaging |
Het |
| Paqr3 |
T |
C |
5: 97,243,887 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
T |
C |
18: 37,556,796 (GRCm39) |
F709L |
probably benign |
Het |
| Phf12 |
G |
A |
11: 77,918,224 (GRCm39) |
R812Q |
probably damaging |
Het |
| Polr2a |
A |
T |
11: 69,637,696 (GRCm39) |
L216Q |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,579,331 (GRCm39) |
L140P |
probably benign |
Het |
| Pou2f3 |
C |
T |
9: 43,045,769 (GRCm39) |
|
probably null |
Het |
| Prkcd |
A |
T |
14: 30,317,938 (GRCm39) |
N548K |
probably benign |
Het |
| Pygb |
A |
G |
2: 150,657,620 (GRCm39) |
D361G |
probably benign |
Het |
| Rpl9 |
A |
T |
5: 65,546,044 (GRCm39) |
|
probably benign |
Het |
| Rubcnl |
A |
T |
14: 75,272,912 (GRCm39) |
T211S |
probably benign |
Het |
| Rusc1 |
C |
T |
3: 88,999,027 (GRCm39) |
G252S |
probably benign |
Het |
| Scnn1g |
A |
G |
7: 121,337,318 (GRCm39) |
T60A |
probably damaging |
Het |
| Sipa1l2 |
T |
G |
8: 126,218,423 (GRCm39) |
T305P |
probably benign |
Het |
| Slc18b1 |
T |
A |
10: 23,700,565 (GRCm39) |
|
probably benign |
Het |
| Sp100 |
G |
A |
1: 85,608,861 (GRCm39) |
|
probably null |
Het |
| Tekt5 |
A |
T |
16: 10,205,017 (GRCm39) |
|
probably null |
Het |
| Tlnrd1 |
T |
A |
7: 83,533,693 (GRCm39) |
|
probably benign |
Het |
| Tpcn1 |
A |
G |
5: 120,685,462 (GRCm39) |
|
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,814,719 (GRCm39) |
I461V |
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,467 (GRCm39) |
K643E |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,251,892 (GRCm39) |
C914R |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,849,738 (GRCm39) |
T1442I |
probably damaging |
Het |
| Ttll6 |
A |
G |
11: 96,026,415 (GRCm39) |
M107V |
possibly damaging |
Het |
| Uap1l1 |
A |
G |
2: 25,253,445 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
T |
A |
5: 114,553,370 (GRCm39) |
I914N |
possibly damaging |
Het |
| Usp24 |
A |
G |
4: 106,237,665 (GRCm39) |
T1107A |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,270,432 (GRCm39) |
|
probably null |
Het |
| Wdr91 |
A |
T |
6: 34,868,422 (GRCm39) |
I433N |
possibly damaging |
Het |
| Zfp770 |
G |
C |
2: 114,026,713 (GRCm39) |
S452* |
probably null |
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 |
|
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 |
|
|
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'- GAGGTCAAGCTACAAAGACCCTAG -3'
(R):5'- CATCTGGAGCTTTGCCTTGG -3'
Sequencing Primer
(F):5'- CACAACAAGGTCGGAGGCATC -3'
(R):5'- AGCTTTGCCTTGGGGACG -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation