Incidental Mutation 'IGL03340:Usp38'
| ID |
417189 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp38
|
| Ensembl Gene |
ENSMUSG00000038250 |
| Gene Name |
ubiquitin specific peptidase 38 |
| Synonyms |
4833420O05Rik, 4631402N15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03340
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 81738905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 237
(L237V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
| AlphaFold |
Q8BW70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042724
AA Change: L237V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: L237V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1gw5a_
|
1 |
365 |
5e-3 |
SMART |
|
Pfam:UCH
|
444 |
946 |
1.8e-47 |
PFAM |
|
Pfam:UCH_1
|
445 |
921 |
2.2e-23 |
PFAM |
|
low complexity region
|
995 |
1006 |
N/A |
INTRINSIC |
|
low complexity region
|
1019 |
1033 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123595
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166229
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209272
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211538
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
G |
12: 55,126,786 (GRCm39) |
L26P |
probably benign |
Het |
| Aff1 |
A |
T |
5: 103,931,670 (GRCm39) |
H104L |
possibly damaging |
Het |
| Apon |
T |
C |
10: 128,090,847 (GRCm39) |
I175T |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,115,830 (GRCm39) |
F168V |
probably benign |
Het |
| Cgn |
C |
T |
3: 94,685,405 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
G |
A |
17: 25,192,516 (GRCm39) |
P956L |
probably damaging |
Het |
| Cyp2e1 |
G |
A |
7: 140,344,767 (GRCm39) |
V78M |
probably damaging |
Het |
| Cyp4b1 |
G |
A |
4: 115,499,076 (GRCm39) |
P97S |
probably damaging |
Het |
| Fads2 |
G |
T |
19: 10,069,136 (GRCm39) |
P96Q |
possibly damaging |
Het |
| Fcer2a |
T |
C |
8: 3,738,310 (GRCm39) |
D120G |
possibly damaging |
Het |
| Fhip1b |
A |
G |
7: 105,038,517 (GRCm39) |
S241P |
probably damaging |
Het |
| Gm21972 |
G |
T |
1: 86,061,450 (GRCm39) |
A887S |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,601,003 (GRCm39) |
D295G |
probably damaging |
Het |
| Herc2 |
T |
A |
7: 55,740,668 (GRCm39) |
V270D |
possibly damaging |
Het |
| Kcnk2 |
T |
A |
1: 189,027,878 (GRCm39) |
I126F |
possibly damaging |
Het |
| Kifap3 |
T |
G |
1: 163,656,718 (GRCm39) |
V346G |
possibly damaging |
Het |
| Kpna1 |
T |
A |
16: 35,820,616 (GRCm39) |
N20K |
probably damaging |
Het |
| Krt33b |
A |
G |
11: 99,916,298 (GRCm39) |
|
probably benign |
Het |
| Krtap9-5 |
T |
C |
11: 99,839,427 (GRCm39) |
C43R |
possibly damaging |
Het |
| Lars1 |
G |
A |
18: 42,361,715 (GRCm39) |
|
probably benign |
Het |
| Lifr |
T |
C |
15: 7,207,417 (GRCm39) |
W540R |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,358,981 (GRCm39) |
S631P |
probably damaging |
Het |
| Mbd1 |
G |
T |
18: 74,407,553 (GRCm39) |
R111L |
probably benign |
Het |
| Meltf |
C |
T |
16: 31,711,602 (GRCm39) |
T576M |
probably damaging |
Het |
| Mmp20 |
G |
A |
9: 7,643,995 (GRCm39) |
G228S |
probably damaging |
Het |
| Mob4 |
A |
G |
1: 55,175,867 (GRCm39) |
D37G |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,073,048 (GRCm39) |
K234E |
possibly damaging |
Het |
| Myof |
A |
G |
19: 37,899,607 (GRCm39) |
V1764A |
probably damaging |
Het |
| Naaladl1 |
A |
G |
19: 6,156,229 (GRCm39) |
Y105C |
possibly damaging |
Het |
| Nisch |
A |
G |
14: 30,895,101 (GRCm39) |
V1065A |
probably damaging |
Het |
| Npas4 |
A |
T |
19: 5,035,094 (GRCm39) |
|
probably benign |
Het |
| Or4c124 |
T |
C |
2: 89,156,039 (GRCm39) |
T162A |
possibly damaging |
Het |
| Pdss2 |
A |
G |
10: 43,269,997 (GRCm39) |
D280G |
probably benign |
Het |
| Plk3 |
A |
G |
4: 116,990,125 (GRCm39) |
I182T |
probably damaging |
Het |
| Ppm1k |
A |
G |
6: 57,487,711 (GRCm39) |
W371R |
probably damaging |
Het |
| Samm50 |
T |
C |
15: 84,082,864 (GRCm39) |
|
probably null |
Het |
| Scaper |
G |
T |
9: 55,510,116 (GRCm39) |
T640K |
possibly damaging |
Het |
| Sun3 |
A |
C |
11: 8,973,285 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,111,451 (GRCm39) |
K1056M |
possibly damaging |
Het |
| Tgs1 |
C |
A |
4: 3,604,813 (GRCm39) |
P745Q |
probably benign |
Het |
| Tomm20l |
A |
T |
12: 71,164,388 (GRCm39) |
|
probably benign |
Het |
| Vmn1r210 |
T |
C |
13: 23,011,644 (GRCm39) |
Y214C |
probably benign |
Het |
| Zan |
G |
A |
5: 137,426,136 (GRCm39) |
P2547S |
unknown |
Het |
|
| Other mutations in Usp38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Usp38
|
APN |
8 |
81,740,469 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01373:Usp38
|
APN |
8 |
81,716,647 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02089:Usp38
|
APN |
8 |
81,712,343 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02528:Usp38
|
APN |
8 |
81,719,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02538:Usp38
|
APN |
8 |
81,712,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02615:Usp38
|
APN |
8 |
81,711,780 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0033:Usp38
|
UTSW |
8 |
81,708,525 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0313:Usp38
|
UTSW |
8 |
81,711,071 (GRCm39) |
nonsense |
probably null |
|
|
R0331:Usp38
|
UTSW |
8 |
81,722,469 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0497:Usp38
|
UTSW |
8 |
81,711,053 (GRCm39) |
splice site |
probably benign |
|
|
R0594:Usp38
|
UTSW |
8 |
81,731,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0632:Usp38
|
UTSW |
8 |
81,740,779 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1355:Usp38
|
UTSW |
8 |
81,711,662 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1500:Usp38
|
UTSW |
8 |
81,722,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1566:Usp38
|
UTSW |
8 |
81,711,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1880:Usp38
|
UTSW |
8 |
81,727,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4161:Usp38
|
UTSW |
8 |
81,719,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4176:Usp38
|
UTSW |
8 |
81,719,928 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4882:Usp38
|
UTSW |
8 |
81,708,606 (GRCm39) |
nonsense |
probably null |
|
|
R5344:Usp38
|
UTSW |
8 |
81,712,392 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5481:Usp38
|
UTSW |
8 |
81,719,952 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5564:Usp38
|
UTSW |
8 |
81,711,717 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5897:Usp38
|
UTSW |
8 |
81,732,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6111:Usp38
|
UTSW |
8 |
81,740,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6746:Usp38
|
UTSW |
8 |
81,740,920 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6912:Usp38
|
UTSW |
8 |
81,719,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Usp38
|
UTSW |
8 |
81,727,750 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7483:Usp38
|
UTSW |
8 |
81,741,190 (GRCm39) |
start gained |
probably benign |
|
|
R7525:Usp38
|
UTSW |
8 |
81,740,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Usp38
|
UTSW |
8 |
81,708,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7915:Usp38
|
UTSW |
8 |
81,727,712 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7934:Usp38
|
UTSW |
8 |
81,711,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7988:Usp38
|
UTSW |
8 |
81,740,945 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8062:Usp38
|
UTSW |
8 |
81,711,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Usp38
|
UTSW |
8 |
81,712,031 (GRCm39) |
missense |
probably benign |
|
|
R8514:Usp38
|
UTSW |
8 |
81,712,346 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8919:Usp38
|
UTSW |
8 |
81,708,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9119:Usp38
|
UTSW |
8 |
81,711,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Usp38
|
UTSW |
8 |
81,741,164 (GRCm39) |
start gained |
probably benign |
|
|
RF016:Usp38
|
UTSW |
8 |
81,740,522 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation