Incidental Mutation 'IGL01778:Usp6nl'
| ID |
153749 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Usp6nl
|
| Ensembl Gene |
ENSMUSG00000039046 |
| Gene Name |
USP6 N-terminal like |
| Synonyms |
TRE2NL |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL01778
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
6327478-6451201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6432381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 260
(T260A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042503]
[ENSMUST00000114937]
|
| AlphaFold |
Q80XC3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042503
AA Change: T283A
PolyPhen 2
Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: T283A
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
120 |
338 |
2.14e-78 |
SMART |
|
low complexity region
|
486 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
576 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
811 |
825 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114937
AA Change: T260A
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: T260A
| Domain | Start | End | E-Value | Type |
|---|
|
TBC
|
97 |
315 |
2.14e-78 |
SMART |
|
low complexity region
|
463 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
568 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
591 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
802 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126659
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150515
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(32) : Gene trapped(32) |
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actrt2 |
T |
C |
4: 154,751,162 (GRCm39) |
K325E |
probably benign |
Het |
| Arc |
C |
T |
15: 74,544,204 (GRCm39) |
M6I |
probably benign |
Het |
| Atp7b |
A |
T |
8: 22,484,844 (GRCm39) |
D1404E |
probably benign |
Het |
| Cdk5rap1 |
T |
A |
2: 154,207,956 (GRCm39) |
N156I |
probably damaging |
Het |
| Ctsa |
T |
C |
2: 164,676,230 (GRCm39) |
|
probably benign |
Het |
| Depdc1b |
T |
G |
13: 108,498,861 (GRCm39) |
N181K |
probably benign |
Het |
| Epg5 |
T |
C |
18: 78,062,489 (GRCm39) |
V1994A |
probably damaging |
Het |
| Epyc |
T |
A |
10: 97,517,099 (GRCm39) |
C312* |
probably null |
Het |
| Erv3 |
T |
A |
2: 131,697,877 (GRCm39) |
R161* |
probably null |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gfra3 |
T |
C |
18: 34,824,644 (GRCm39) |
T280A |
possibly damaging |
Het |
| Gldn |
A |
T |
9: 54,241,776 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
G |
A |
2: 28,725,100 (GRCm39) |
R211C |
probably damaging |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Hsh2d |
A |
G |
8: 72,947,351 (GRCm39) |
D16G |
probably damaging |
Het |
| Klk15 |
T |
A |
7: 43,588,262 (GRCm39) |
M190K |
probably damaging |
Het |
| Klri1 |
A |
G |
6: 129,694,010 (GRCm39) |
S26P |
possibly damaging |
Het |
| Krt78 |
T |
A |
15: 101,859,402 (GRCm39) |
D265V |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,298,607 (GRCm39) |
I355S |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,685,367 (GRCm39) |
V595D |
probably damaging |
Het |
| Map2k6 |
A |
C |
11: 110,403,695 (GRCm39) |
|
probably benign |
Het |
| Mdm4 |
A |
G |
1: 132,922,285 (GRCm39) |
S286P |
probably benign |
Het |
| Ncoa4-ps |
T |
C |
12: 119,226,231 (GRCm39) |
|
noncoding transcript |
Het |
| Or2ak7 |
A |
G |
11: 58,575,095 (GRCm39) |
Y132C |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,090,448 (GRCm39) |
M114K |
probably damaging |
Het |
| Rdh13 |
C |
T |
7: 4,433,388 (GRCm39) |
|
probably null |
Het |
| Reg3g |
T |
A |
6: 78,443,816 (GRCm39) |
I131F |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc8a2 |
T |
A |
7: 15,892,818 (GRCm39) |
F827I |
probably damaging |
Het |
| Slfn9 |
A |
T |
11: 82,878,200 (GRCm39) |
C310S |
probably damaging |
Het |
| Sypl1 |
A |
G |
12: 33,025,641 (GRCm39) |
Y235C |
probably damaging |
Het |
| Trav7-4 |
A |
T |
14: 53,699,098 (GRCm39) |
T82S |
possibly damaging |
Het |
| Trim28 |
T |
A |
7: 12,764,629 (GRCm39) |
V782D |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,575,242 (GRCm39) |
T25217M |
probably damaging |
Het |
| Vmn2r54 |
A |
T |
7: 12,366,009 (GRCm39) |
N308K |
probably benign |
Het |
| Xdh |
T |
C |
17: 74,207,275 (GRCm39) |
E986G |
probably benign |
Het |
| Zfp770 |
T |
C |
2: 114,026,719 (GRCm39) |
D450G |
probably damaging |
Het |
| Zw10 |
T |
G |
9: 48,980,915 (GRCm39) |
S438R |
probably benign |
Het |
|
| Other mutations in Usp6nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Usp6nl
|
APN |
2 |
6,429,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01603:Usp6nl
|
APN |
2 |
6,428,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01690:Usp6nl
|
APN |
2 |
6,445,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02799:Usp6nl
|
APN |
2 |
6,432,360 (GRCm39) |
splice site |
probably benign |
|
|
3-1:Usp6nl
|
UTSW |
2 |
6,413,828 (GRCm39) |
splice site |
probably benign |
|
|
R0060:Usp6nl
|
UTSW |
2 |
6,445,701 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0544:Usp6nl
|
UTSW |
2 |
6,425,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0550:Usp6nl
|
UTSW |
2 |
6,405,134 (GRCm39) |
splice site |
probably benign |
|
|
R0701:Usp6nl
|
UTSW |
2 |
6,419,829 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1396:Usp6nl
|
UTSW |
2 |
6,431,809 (GRCm39) |
splice site |
probably null |
|
|
R1967:Usp6nl
|
UTSW |
2 |
6,446,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2120:Usp6nl
|
UTSW |
2 |
6,445,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2215:Usp6nl
|
UTSW |
2 |
6,429,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2366:Usp6nl
|
UTSW |
2 |
6,445,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3737:Usp6nl
|
UTSW |
2 |
6,445,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4178:Usp6nl
|
UTSW |
2 |
6,445,787 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4656:Usp6nl
|
UTSW |
2 |
6,445,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Usp6nl
|
UTSW |
2 |
6,425,714 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5112:Usp6nl
|
UTSW |
2 |
6,425,714 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5621:Usp6nl
|
UTSW |
2 |
6,445,243 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5642:Usp6nl
|
UTSW |
2 |
6,435,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5999:Usp6nl
|
UTSW |
2 |
6,446,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6931:Usp6nl
|
UTSW |
2 |
6,435,269 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7188:Usp6nl
|
UTSW |
2 |
6,445,330 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7696:Usp6nl
|
UTSW |
2 |
6,429,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7973:Usp6nl
|
UTSW |
2 |
6,413,762 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8223:Usp6nl
|
UTSW |
2 |
6,435,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8321:Usp6nl
|
UTSW |
2 |
6,395,900 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8384:Usp6nl
|
UTSW |
2 |
6,432,604 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8465:Usp6nl
|
UTSW |
2 |
6,399,352 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9571:Usp6nl
|
UTSW |
2 |
6,445,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2014-02-04 |
Incidental Mutation