Incidental Mutation 'IGL01690:Usp6nl'
| ID |
104066 |
| 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 # |
IGL01690
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
6327478-6451201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6445879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 619
(V619M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043178
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042503]
[ENSMUST00000114937]
|
| AlphaFold |
Q80XC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042503
AA Change: V619M
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: V619M
| 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 benign
Transcript: ENSMUST00000114937
AA Change: V596M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: V596M
| 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 |
|
| 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 |
|---|
| 4931429P17Rik |
A |
G |
13: 48,114,446 (GRCm39) |
|
noncoding transcript |
Het |
| Agap2 |
T |
C |
10: 126,918,827 (GRCm39) |
|
probably benign |
Het |
| Bicra |
G |
A |
7: 15,721,678 (GRCm39) |
T613I |
probably benign |
Het |
| Cd163 |
T |
C |
6: 124,284,277 (GRCm39) |
S150P |
possibly damaging |
Het |
| Cfap107 |
G |
A |
4: 144,165,098 (GRCm39) |
T26M |
probably damaging |
Het |
| F830045P16Rik |
T |
G |
2: 129,314,614 (GRCm39) |
Q221P |
probably damaging |
Het |
| Fam135b |
T |
A |
15: 71,328,784 (GRCm39) |
M1172L |
probably benign |
Het |
| Fbxo2 |
G |
T |
4: 148,249,581 (GRCm39) |
|
probably null |
Het |
| Frem1 |
C |
T |
4: 82,877,533 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
C |
T |
5: 131,114,734 (GRCm39) |
|
probably null |
Het |
| Gipc2 |
A |
G |
3: 151,833,771 (GRCm39) |
I170T |
probably damaging |
Het |
| Gm2399 |
C |
T |
13: 12,717,417 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac10 |
T |
A |
15: 89,010,194 (GRCm39) |
M283L |
probably benign |
Het |
| Icam5 |
A |
G |
9: 20,946,095 (GRCm39) |
E309G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,277 (GRCm39) |
V602A |
probably benign |
Het |
| Igkv3-5 |
T |
A |
6: 70,640,865 (GRCm39) |
S115R |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,025,568 (GRCm39) |
R67G |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,232 (GRCm39) |
Y356C |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,168,655 (GRCm39) |
D751G |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,917,831 (GRCm39) |
D3297G |
probably damaging |
Het |
| Mall |
A |
G |
2: 127,571,699 (GRCm39) |
F30L |
probably benign |
Het |
| Map1b |
C |
T |
13: 99,571,512 (GRCm39) |
G403D |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,762,730 (GRCm39) |
Y241C |
probably damaging |
Het |
| Niban1 |
C |
A |
1: 151,579,555 (GRCm39) |
R425S |
probably damaging |
Het |
| Or4a72 |
A |
G |
2: 89,405,557 (GRCm39) |
V171A |
probably benign |
Het |
| Pcnt |
C |
T |
10: 76,228,609 (GRCm39) |
A1519T |
probably damaging |
Het |
| Pcsk2 |
A |
G |
2: 143,529,490 (GRCm39) |
M96V |
probably benign |
Het |
| Piwil4 |
T |
C |
9: 14,614,391 (GRCm39) |
D124G |
probably damaging |
Het |
| Plb1 |
A |
T |
5: 32,471,041 (GRCm39) |
I538F |
probably damaging |
Het |
| Polq |
A |
G |
16: 36,883,200 (GRCm39) |
D1788G |
probably damaging |
Het |
| Pus7 |
A |
G |
5: 23,980,962 (GRCm39) |
S134P |
probably damaging |
Het |
| Sec61a2 |
G |
A |
2: 5,891,363 (GRCm39) |
S56L |
possibly damaging |
Het |
| Sel1l |
G |
T |
12: 91,810,033 (GRCm39) |
D26E |
probably benign |
Het |
| Slc25a48 |
G |
A |
13: 56,612,758 (GRCm39) |
|
probably benign |
Het |
| Tas2r126 |
T |
C |
6: 42,412,241 (GRCm39) |
F258S |
probably benign |
Het |
| Tnfrsf13b |
G |
A |
11: 61,032,146 (GRCm39) |
V59I |
possibly damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,180,767 (GRCm39) |
I10M |
possibly damaging |
Het |
| Vmn2r71 |
A |
G |
7: 85,264,782 (GRCm39) |
D38G |
probably damaging |
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 |
|
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 |
2014-01-21 |
Incidental Mutation