Incidental Mutation 'IGL01754:Usp17ld'
| ID |
153419 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp17ld
|
| Ensembl Gene |
ENSMUSG00000057321 |
| Gene Name |
ubiquitin specific peptidase 17-like D |
| Synonyms |
Dub2a |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL01754
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102899293-102901712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 102899870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 354
(V354G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073394]
|
| AlphaFold |
G5E8G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073394
AA Change: V354G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000073107
Gene: ENSMUSG00000057321
AA Change: V354G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UCH
|
50 |
345 |
2.4e-54 |
PFAM |
|
Pfam:UCH_1
|
51 |
327 |
2e-25 |
PFAM |
|
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
|
low complexity region
|
529 |
542 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
A |
G |
8: 112,708,942 (GRCm39) |
C294R |
probably damaging |
Het |
| Afap1l1 |
A |
G |
18: 61,870,565 (GRCm39) |
|
probably null |
Het |
| Art2a |
C |
T |
7: 101,204,059 (GRCm39) |
V160M |
probably damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,366,795 (GRCm39) |
|
probably null |
Het |
| Cwc22 |
A |
G |
2: 77,754,883 (GRCm39) |
I231T |
probably damaging |
Het |
| Efr3a |
C |
A |
15: 65,726,569 (GRCm39) |
A554E |
probably damaging |
Het |
| Fads2b |
T |
C |
2: 85,348,899 (GRCm39) |
Q71R |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,277,607 (GRCm39) |
T76A |
probably benign |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm4454 |
T |
C |
7: 38,268,386 (GRCm39) |
T253A |
probably damaging |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Igkv5-39 |
A |
G |
6: 69,877,661 (GRCm39) |
S12P |
probably damaging |
Het |
| Itga10 |
G |
A |
3: 96,564,091 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
T |
16: 22,898,364 (GRCm39) |
D407V |
probably benign |
Het |
| Lrrd1 |
A |
G |
5: 3,901,432 (GRCm39) |
D579G |
probably damaging |
Het |
| Plcg1 |
C |
A |
2: 160,603,353 (GRCm39) |
Q1175K |
probably damaging |
Het |
| Scml4 |
T |
A |
10: 42,833,746 (GRCm39) |
|
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc5a4b |
A |
G |
10: 75,906,449 (GRCm39) |
L390P |
probably damaging |
Het |
| Tectb |
A |
G |
19: 55,172,445 (GRCm39) |
Q164R |
probably damaging |
Het |
| Trim52 |
C |
T |
14: 106,344,623 (GRCm39) |
Q94* |
probably null |
Het |
| Usp43 |
T |
C |
11: 67,747,007 (GRCm39) |
H895R |
probably benign |
Het |
| Vmn2r24 |
T |
C |
6: 123,781,120 (GRCm39) |
L442P |
probably damaging |
Het |
|
| Other mutations in Usp17ld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00705:Usp17ld
|
APN |
7 |
102,899,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02422:Usp17ld
|
APN |
7 |
102,899,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1701:Usp17ld
|
UTSW |
7 |
102,899,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3113:Usp17ld
|
UTSW |
7 |
102,899,870 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5057:Usp17ld
|
UTSW |
7 |
102,899,655 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5161:Usp17ld
|
UTSW |
7 |
102,899,579 (GRCm39) |
nonsense |
probably null |
|
|
R5259:Usp17ld
|
UTSW |
7 |
102,899,781 (GRCm39) |
nonsense |
probably null |
|
|
R5656:Usp17ld
|
UTSW |
7 |
102,900,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6528:Usp17ld
|
UTSW |
7 |
102,899,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Usp17ld
|
UTSW |
7 |
102,900,094 (GRCm39) |
nonsense |
probably null |
|
|
R7688:Usp17ld
|
UTSW |
7 |
102,899,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Usp17ld
|
UTSW |
7 |
102,899,489 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7800:Usp17ld
|
UTSW |
7 |
102,900,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Usp17ld
|
UTSW |
7 |
102,899,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Usp17ld
|
UTSW |
7 |
102,900,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9388:Usp17ld
|
UTSW |
7 |
102,900,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9486:Usp17ld
|
UTSW |
7 |
102,899,381 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9620:Usp17ld
|
UTSW |
7 |
102,900,179 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
RF009:Usp17ld
|
UTSW |
7 |
102,899,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation