Incidental Mutation 'IGL00705:Usp17ld'
| ID |
10415 |
| 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 # |
IGL00705
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
102899293-102901712 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 102899645 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 429
(T429I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073394]
|
| AlphaFold |
G5E8G2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073394
AA Change: T429I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000073107
Gene: ENSMUSG00000057321
AA Change: T429I
| 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: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh8 |
T |
A |
9: 3,359,588 (GRCm39) |
H257Q |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,835,366 (GRCm39) |
H725Q |
probably damaging |
Het |
| Asnsd1 |
A |
T |
1: 53,387,610 (GRCm39) |
C6S |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,986,534 (GRCm39) |
|
probably benign |
Het |
| Cep112 |
C |
A |
11: 108,362,859 (GRCm39) |
T193K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,892,484 (GRCm39) |
I720V |
possibly damaging |
Het |
| Grid1 |
T |
A |
14: 35,167,844 (GRCm39) |
I456N |
possibly damaging |
Het |
| Limch1 |
A |
T |
5: 67,150,496 (GRCm39) |
R169* |
probably null |
Het |
| Mroh9 |
A |
G |
1: 162,907,072 (GRCm39) |
S17P |
probably damaging |
Het |
| Mtpap |
A |
C |
18: 4,379,670 (GRCm39) |
N87H |
probably damaging |
Het |
| Nudt17 |
A |
G |
3: 96,614,516 (GRCm39) |
|
probably null |
Het |
| Obox6 |
A |
T |
7: 15,567,662 (GRCm39) |
S262T |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
| Rufy3 |
A |
G |
5: 88,769,209 (GRCm39) |
I226V |
probably damaging |
Het |
| Tex15 |
C |
A |
8: 34,071,620 (GRCm39) |
P2389Q |
probably damaging |
Het |
| Urb2 |
T |
A |
8: 124,763,376 (GRCm39) |
V1266D |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,583,086 (GRCm39) |
H578R |
probably benign |
Het |
| Zfp318 |
T |
A |
17: 46,723,398 (GRCm39) |
S1800R |
probably benign |
Het |
| Zfp638 |
A |
G |
6: 83,954,112 (GRCm39) |
T1406A |
probably damaging |
Het |
|
| Other mutations in Usp17ld |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01754:Usp17ld
|
APN |
7 |
102,899,870 (GRCm39) |
missense |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation