Incidental Mutation 'IGL01021:Usp6nl'
| ID |
53461 |
| 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: 0.087)
|
| Stock # |
IGL01021
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
6327478-6451201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6429198 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 220
(M220K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042503]
[ENSMUST00000114937]
|
| AlphaFold |
Q80XC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042503
AA Change: M243K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: M243K
| 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 |
probably damaging
Transcript: ENSMUST00000114937
AA Change: M220K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: M220K
| 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: ENSMUST00000132391
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930533L02Rik |
T |
C |
7: 124,917,848 (GRCm39) |
V80A |
unknown |
Het |
| Adam28 |
A |
G |
14: 68,879,563 (GRCm39) |
S162P |
probably benign |
Het |
| Adamts14 |
G |
T |
10: 61,061,152 (GRCm39) |
S426Y |
probably damaging |
Het |
| Ankrd24 |
A |
G |
10: 81,470,995 (GRCm39) |
|
probably null |
Het |
| B3galt5 |
C |
A |
16: 96,116,923 (GRCm39) |
H185Q |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,995,516 (GRCm39) |
|
probably benign |
Het |
| Ddx46 |
T |
A |
13: 55,814,145 (GRCm39) |
Y700* |
probably null |
Het |
| Dph7 |
T |
G |
2: 24,861,935 (GRCm39) |
|
probably null |
Het |
| Eif1ad9 |
G |
A |
12: 88,296,042 (GRCm39) |
G7R |
unknown |
Het |
| Fcho1 |
A |
T |
8: 72,166,167 (GRCm39) |
Y354* |
probably null |
Het |
| Fnbp4 |
A |
G |
2: 90,608,013 (GRCm39) |
M912V |
probably benign |
Het |
| Fpgt |
T |
A |
3: 154,797,129 (GRCm39) |
E42V |
possibly damaging |
Het |
| Frmd3 |
A |
G |
4: 73,992,357 (GRCm39) |
I75V |
possibly damaging |
Het |
| Gm3278 |
G |
T |
14: 16,082,261 (GRCm39) |
V159L |
possibly damaging |
Het |
| Gmds |
T |
C |
13: 32,311,013 (GRCm39) |
I205V |
possibly damaging |
Het |
| Gprin1 |
T |
A |
13: 54,888,182 (GRCm39) |
S31C |
probably damaging |
Het |
| Igkv4-68 |
T |
C |
6: 69,281,865 (GRCm39) |
E102G |
probably damaging |
Het |
| Itga1 |
T |
A |
13: 115,133,536 (GRCm39) |
Y458F |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,915,660 (GRCm39) |
V479A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,037,799 (GRCm39) |
W772R |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,075 (GRCm39) |
I2533F |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,050,343 (GRCm39) |
S258P |
probably damaging |
Het |
| Padi3 |
T |
C |
4: 140,523,645 (GRCm39) |
|
probably benign |
Het |
| Pmfbp1 |
G |
T |
8: 110,264,625 (GRCm39) |
R897L |
possibly damaging |
Het |
| Rims1 |
A |
T |
1: 22,525,701 (GRCm39) |
W407R |
probably damaging |
Het |
| Scnn1b |
G |
T |
7: 121,517,259 (GRCm39) |
D632Y |
probably damaging |
Het |
| Tas2r123 |
G |
A |
6: 132,824,369 (GRCm39) |
A89T |
probably benign |
Het |
| Tbk1 |
T |
C |
10: 121,387,177 (GRCm39) |
E706G |
probably benign |
Het |
| Thra |
A |
G |
11: 98,653,754 (GRCm39) |
D195G |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 43,973,347 (GRCm39) |
Y33* |
probably null |
Het |
| Vmn2r112 |
C |
T |
17: 22,837,885 (GRCm39) |
T782I |
probably damaging |
Het |
| Zbtb43 |
T |
C |
2: 33,343,771 (GRCm39) |
T485A |
probably benign |
Het |
| Zfat |
T |
C |
15: 68,042,015 (GRCm39) |
I840V |
possibly damaging |
Het |
|
| Other mutations in Usp6nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL01778:Usp6nl
|
APN |
2 |
6,432,381 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
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 |
2013-06-28 |
Incidental Mutation