Incidental Mutation 'R2366:Usp6nl'
| ID |
246317 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Usp6nl
|
| Ensembl Gene |
ENSMUSG00000039046 |
| Gene Name |
USP6 N-terminal like |
| Synonyms |
TRE2NL |
| MMRRC Submission |
040347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.087)
|
| Stock # |
R2366 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
6327478-6451201 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 6445770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 559
(H559Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110587
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042503]
[ENSMUST00000114937]
|
| AlphaFold |
Q80XC3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042503
AA Change: H582Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000043178
Gene: ENSMUSG00000039046
AA Change: H582Q
| 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: H559Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110587
Gene: ENSMUSG00000039046
AA Change: H559Q
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (39/39) |
| Allele List at MGI |
All alleles(32) : Gene trapped(32) |
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630091E08Rik |
G |
A |
7: 98,192,949 (GRCm39) |
|
noncoding transcript |
Het |
| Adamts5 |
C |
T |
16: 85,659,646 (GRCm39) |
G882D |
probably damaging |
Het |
| Arl6ip6 |
T |
C |
2: 53,082,379 (GRCm39) |
V82A |
probably benign |
Het |
| Brd10 |
A |
T |
19: 29,731,035 (GRCm39) |
I726N |
probably damaging |
Het |
| Cd38 |
T |
G |
5: 44,060,932 (GRCm39) |
|
probably benign |
Het |
| Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,632,893 (GRCm39) |
G1457V |
probably damaging |
Het |
| Cyp2c69 |
T |
C |
19: 39,866,038 (GRCm39) |
N185S |
probably benign |
Het |
| Cyp2d12 |
T |
A |
15: 82,439,355 (GRCm39) |
L3Q |
probably damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Drc1 |
A |
G |
5: 30,523,894 (GRCm39) |
*754W |
probably null |
Het |
| Erbin |
G |
A |
13: 103,981,417 (GRCm39) |
H503Y |
probably damaging |
Het |
| F3 |
G |
A |
3: 121,526,194 (GRCm39) |
|
probably null |
Het |
| Gm10033 |
A |
T |
8: 69,826,232 (GRCm39) |
M112K |
unknown |
Het |
| Gps1 |
A |
C |
11: 120,678,945 (GRCm39) |
I404L |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,903,648 (GRCm39) |
N1002S |
probably benign |
Het |
| Impg2 |
T |
C |
16: 56,080,236 (GRCm39) |
I571T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,451,751 (GRCm39) |
V323F |
possibly damaging |
Het |
| Kntc1 |
C |
T |
5: 123,919,255 (GRCm39) |
L845F |
probably damaging |
Het |
| Lsm5 |
T |
C |
6: 56,680,003 (GRCm39) |
D53G |
probably damaging |
Het |
| Lzts1 |
T |
C |
8: 69,593,257 (GRCm39) |
|
probably null |
Het |
| Matr3 |
A |
T |
18: 35,721,448 (GRCm39) |
N473I |
probably damaging |
Het |
| Med1 |
A |
G |
11: 98,052,008 (GRCm39) |
V452A |
probably damaging |
Het |
| Napsa |
T |
A |
7: 44,231,909 (GRCm39) |
D44E |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,290,511 (GRCm39) |
F1036S |
probably damaging |
Het |
| Ncapg2 |
G |
A |
12: 116,384,349 (GRCm39) |
W270* |
probably null |
Het |
| Nherf1 |
G |
A |
11: 115,054,454 (GRCm39) |
V35M |
probably benign |
Het |
| Or5af1 |
C |
A |
11: 58,722,039 (GRCm39) |
Q20K |
probably benign |
Het |
| Pik3ca |
G |
A |
3: 32,516,943 (GRCm39) |
W1057* |
probably null |
Het |
| Pkd1l2 |
A |
T |
8: 117,770,056 (GRCm39) |
D1133E |
probably benign |
Het |
| Pramel39-ps |
T |
C |
5: 94,450,972 (GRCm39) |
K385E |
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,894,079 (GRCm39) |
E122V |
probably damaging |
Het |
| Rest |
C |
A |
5: 77,416,034 (GRCm39) |
H83N |
probably benign |
Het |
| Rundc3a |
A |
G |
11: 102,288,491 (GRCm39) |
I68V |
probably damaging |
Het |
| Stx6 |
A |
T |
1: 155,077,706 (GRCm39) |
I238L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqln3 |
C |
A |
7: 103,790,256 (GRCm39) |
Q611H |
probably damaging |
Het |
| Vipr1 |
T |
G |
9: 121,494,250 (GRCm39) |
V277G |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,599,972 (GRCm39) |
C595S |
probably benign |
Het |
| Zfp398 |
C |
T |
6: 47,840,143 (GRCm39) |
T124I |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGAGAAAACCATCAGATGCC -3'
(R):5'- GATATGCAGCTCTGTGGTCCTC -3'
Sequencing Primer
(F):5'- CAGATGCCTCAGCTATTGAAAG -3'
(R):5'- TCCTCCTCTGGTAGCTGGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation