Incidental Mutation 'R4178:Usp6nl'
| ID |
319579 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp6nl
|
| Ensembl Gene |
ENSMUSG00000039046 |
| Gene Name |
USP6 N-terminal like |
| Synonyms |
TRE2NL |
| MMRRC Submission |
040864-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
R4178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
6327478-6451201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6445787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 588
(E588G)
|
| 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: E588G
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: E588G
| 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: E565G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: E565G
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(32) : Gene trapped(32) |
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Antxrl |
A |
G |
14: 33,776,928 (GRCm39) |
|
probably null |
Het |
| Atp2b2 |
A |
T |
6: 113,770,679 (GRCm39) |
V410E |
probably damaging |
Het |
| C6 |
G |
A |
15: 4,764,621 (GRCm39) |
V106I |
probably benign |
Het |
| Cdhr1 |
A |
C |
14: 36,804,896 (GRCm39) |
|
probably null |
Het |
| Cfap44 |
T |
A |
16: 44,272,216 (GRCm39) |
L1323Q |
possibly damaging |
Het |
| Ehd4 |
T |
A |
2: 119,984,829 (GRCm39) |
Y43F |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,328,490 (GRCm39) |
I90T |
possibly damaging |
Het |
| Epb41l1 |
A |
G |
2: 156,363,477 (GRCm39) |
Y662C |
probably benign |
Het |
| Fkbp14 |
A |
G |
6: 54,566,299 (GRCm39) |
L103P |
probably damaging |
Het |
| Gm10322 |
C |
A |
10: 59,452,052 (GRCm39) |
N56K |
probably benign |
Het |
| Iqcd |
C |
A |
5: 120,740,476 (GRCm39) |
T269K |
probably damaging |
Het |
| Kat6b |
T |
A |
14: 21,668,972 (GRCm39) |
C249* |
probably null |
Het |
| Kcnab2 |
T |
C |
4: 152,489,058 (GRCm39) |
R109G |
probably null |
Het |
| Obox7 |
A |
G |
7: 14,398,032 (GRCm39) |
Q24R |
probably damaging |
Het |
| Obox7 |
C |
A |
7: 14,398,031 (GRCm39) |
Q24K |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,565 (GRCm39) |
N155D |
probably damaging |
Het |
| Or5p68 |
G |
A |
7: 107,945,765 (GRCm39) |
T141I |
probably benign |
Het |
| Or8g18 |
A |
C |
9: 39,149,375 (GRCm39) |
L115* |
probably null |
Het |
| Rasgrf2 |
C |
T |
13: 92,038,717 (GRCm39) |
G1043D |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,191,688 (GRCm39) |
S1049P |
probably damaging |
Het |
| Smc1b |
A |
T |
15: 85,004,848 (GRCm39) |
F409I |
possibly damaging |
Het |
| Tab2 |
A |
G |
10: 7,795,123 (GRCm39) |
V453A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,120,725 (GRCm39) |
Y338C |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,666 (GRCm39) |
R63G |
probably damaging |
Het |
| Zfp775 |
A |
G |
6: 48,590,187 (GRCm39) |
|
probably null |
Het |
| Zfpm2 |
T |
C |
15: 40,966,940 (GRCm39) |
C1010R |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATCAGATGCCTCAGCTATTG -3'
(R):5'- TAGGAGGGTGGATATGCAGCTC -3'
Sequencing Primer
(F):5'- ACTACTAAATATGCCGTCGAAGG -3'
(R):5'- GATATGCAGCTCTGTGGTCCTC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation