Incidental Mutation 'R5897:Usp38'
| ID |
457592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp38
|
| Ensembl Gene |
ENSMUSG00000038250 |
| Gene Name |
ubiquitin specific peptidase 38 |
| Synonyms |
4833420O05Rik, 4631402N15Rik |
| MMRRC Submission |
044096-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5897 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
81707362-81741557 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 81732082 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 276
(D276G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039943
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042724]
|
| AlphaFold |
Q8BW70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042724
AA Change: D276G
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000039943
Gene: ENSMUSG00000038250
AA Change: D276G
| 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: ENSMUST00000211538
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
| Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
| Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
| Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
| BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
| Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
| Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
| Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
| Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
| Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
| Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
| Fam13b |
A |
G |
18: 34,587,134 (GRCm39) |
V542A |
possibly damaging |
Het |
| Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
| Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
| Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
| Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
| Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
| Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
| Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
| Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
| Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
| Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
| Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
| Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
| Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
| Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
| Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
| Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
| Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
| Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
| Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
| Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
| Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
| Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
| Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
probably benign |
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 |
|
IGL03340:Usp38
|
APN |
8 |
81,738,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATGACTATCTCTGTCTCACTGGC -3'
(R):5'- GGCCACAGTTACATTCATTGC -3'
Sequencing Primer
(F):5'- GGCTTTGCCCCCAAAACC -3'
(R):5'- GCTCAGTAGTAAATACTGAGTC -3'
|
| Posted On |
2017-02-15 |
Incidental Mutation