Incidental Mutation 'R7110:Usp40'
| ID |
551426 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp40
|
| Ensembl Gene |
ENSMUSG00000005501 |
| Gene Name |
ubiquitin specific peptidase 40 |
| Synonyms |
B230215L03Rik |
| MMRRC Submission |
045202-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7110 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87872841-87936273 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87913884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 403
(T403K)
|
| 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: T403K
PolyPhen 2
Score 0.282 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038533
Gene: ENSMUSG00000005501
AA Change: T403K
| 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: T403K
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000140107
Gene: ENSMUSG00000005501
AA Change: T403K
| 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 |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810065E05Rik |
A |
G |
11: 58,316,571 (GRCm39) |
T184A |
possibly damaging |
Het |
| Abca4 |
T |
A |
3: 121,926,292 (GRCm39) |
Y1243N |
probably damaging |
Het |
| Adamts7 |
A |
G |
9: 90,076,017 (GRCm39) |
T1250A |
possibly damaging |
Het |
| Adgrg3 |
T |
C |
8: 95,761,591 (GRCm39) |
V118A |
possibly damaging |
Het |
| Agrn |
A |
G |
4: 156,263,332 (GRCm39) |
V364A |
possibly damaging |
Het |
| Cacna2d1 |
C |
A |
5: 16,562,782 (GRCm39) |
L853I |
probably damaging |
Het |
| Ccdc25 |
A |
G |
14: 66,094,165 (GRCm39) |
K124R |
probably benign |
Het |
| Ccdc73 |
A |
G |
2: 104,803,569 (GRCm39) |
M236V |
probably benign |
Het |
| Cdh1 |
G |
A |
8: 107,395,176 (GRCm39) |
D862N |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,867,400 (GRCm39) |
D559G |
probably damaging |
Het |
| Celsr2 |
C |
A |
3: 108,305,181 (GRCm39) |
G2133C |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,469,896 (GRCm39) |
N1823S |
probably damaging |
Het |
| Cog7 |
T |
C |
7: 121,534,999 (GRCm39) |
N562S |
probably damaging |
Het |
| Dcaf6 |
A |
T |
1: 165,179,537 (GRCm39) |
S534R |
probably benign |
Het |
| Donson |
G |
A |
16: 91,479,009 (GRCm39) |
R436* |
probably null |
Het |
| Fam53c |
T |
A |
18: 34,895,523 (GRCm39) |
|
probably null |
Het |
| Foxi3 |
A |
G |
6: 70,937,730 (GRCm39) |
T321A |
probably benign |
Het |
| Frmd4b |
A |
T |
6: 97,273,192 (GRCm39) |
Y733* |
probably null |
Het |
| Fscn2 |
A |
T |
11: 120,257,580 (GRCm39) |
T314S |
probably benign |
Het |
| Gfral |
A |
G |
9: 76,072,112 (GRCm39) |
I386T |
possibly damaging |
Het |
| Gm21698 |
T |
C |
5: 26,190,175 (GRCm39) |
E174G |
probably damaging |
Het |
| Gm40460 |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,554 (GRCm39) |
|
probably benign |
Het |
| Gprin1 |
T |
C |
13: 54,887,056 (GRCm39) |
D406G |
probably benign |
Het |
| Habp2 |
A |
T |
19: 56,299,596 (GRCm39) |
R128* |
probably null |
Het |
| Hoxc10 |
A |
T |
15: 102,879,356 (GRCm39) |
Y292F |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,081,583 (GRCm39) |
|
probably null |
Het |
| Igkv12-89 |
T |
C |
6: 68,812,115 (GRCm39) |
D18G |
probably damaging |
Het |
| Jhy |
T |
C |
9: 40,828,556 (GRCm39) |
N450S |
probably damaging |
Het |
| Klhl18 |
T |
A |
9: 110,279,833 (GRCm39) |
Q119L |
probably damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Lsmem1 |
A |
T |
12: 40,235,272 (GRCm39) |
|
probably null |
Het |
| Ly75 |
A |
G |
2: 60,206,528 (GRCm39) |
I47T |
probably benign |
Het |
| Med12l |
C |
A |
3: 59,169,645 (GRCm39) |
T1603K |
possibly damaging |
Het |
| Mgat5 |
A |
G |
1: 127,310,716 (GRCm39) |
D210G |
possibly damaging |
Het |
| Mgmt |
G |
T |
7: 136,687,715 (GRCm39) |
G55W |
probably damaging |
Het |
| Mrpl57 |
G |
A |
14: 58,063,754 (GRCm39) |
|
probably benign |
Het |
| Mtg1 |
G |
A |
7: 139,726,779 (GRCm39) |
R209Q |
probably benign |
Het |
| Muc21 |
CGGGGTGGGTGTAGATCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT |
CGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGATGCAGGGGTGGTCGGGGTAGGTGTAGATCCTGAGGCAGTGCT |
17: 35,933,510 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
T |
G |
7: 141,353,559 (GRCm39) |
C826W |
possibly damaging |
Het |
| Myot |
A |
G |
18: 44,474,453 (GRCm39) |
D146G |
probably damaging |
Het |
| Nlrp4f |
T |
A |
13: 65,347,160 (GRCm39) |
I11F |
probably damaging |
Het |
| Nsun5 |
T |
A |
5: 135,400,104 (GRCm39) |
Y76N |
probably damaging |
Het |
| Or7a42 |
A |
T |
10: 78,791,284 (GRCm39) |
M82L |
possibly damaging |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,975 (GRCm39) |
N647S |
possibly damaging |
Het |
| Pdgfra |
T |
A |
5: 75,349,895 (GRCm39) |
Y926* |
probably null |
Het |
| Pdzd2 |
A |
T |
15: 12,368,099 (GRCm39) |
L2630H |
probably damaging |
Het |
| Phox2b |
G |
A |
5: 67,253,505 (GRCm39) |
S297L |
unknown |
Het |
| Polr3e |
T |
A |
7: 120,539,510 (GRCm39) |
|
probably null |
Het |
| Ppp4r2 |
T |
A |
6: 100,842,823 (GRCm39) |
V238E |
probably damaging |
Het |
| Proc |
A |
T |
18: 32,266,441 (GRCm39) |
F129I |
probably benign |
Het |
| Sgca |
T |
A |
11: 94,854,227 (GRCm39) |
|
probably null |
Het |
| Slc7a10 |
A |
G |
7: 34,899,009 (GRCm39) |
H360R |
probably benign |
Het |
| Slurp2 |
G |
A |
15: 74,614,964 (GRCm39) |
T59I |
probably benign |
Het |
| Son |
A |
G |
16: 91,453,406 (GRCm39) |
T718A |
probably benign |
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Spink7 |
T |
C |
18: 62,727,338 (GRCm39) |
N62S |
probably damaging |
Het |
| Stxbp3 |
C |
A |
3: 108,723,649 (GRCm39) |
R195S |
probably damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Tbc1d9b |
A |
T |
11: 50,054,657 (GRCm39) |
I934F |
probably benign |
Het |
| Tecpr2 |
T |
G |
12: 110,885,406 (GRCm39) |
L195R |
probably damaging |
Het |
| Tns2 |
G |
C |
15: 102,013,801 (GRCm39) |
C71S |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vat1 |
G |
T |
11: 101,356,539 (GRCm39) |
R141S |
possibly damaging |
Het |
| Vmn2r28 |
T |
G |
7: 5,493,733 (GRCm39) |
N71T |
probably benign |
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 |
|
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'- CCCTGGAACTGCTGTGTGATATC -3'
(R):5'- GACAAGCTTTCCTGCTCACAG -3'
Sequencing Primer
(F):5'- ATATCTTTCTCTCTGATTGGATGGAC -3'
(R):5'- TGGTGAAGTTAAACACATCTAATCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation