Incidental Mutation 'R6726:Senp8'
| ID |
529870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp8
|
| Ensembl Gene |
ENSMUSG00000051705 |
| Gene Name |
SUMO peptidase family member, NEDD8 specific |
| Synonyms |
Nedp1, Den1, 9130010J17Rik, Prsc2 |
| MMRRC Submission |
044844-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.552)
|
| Stock # |
R6726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
59641542-59657932 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 59644473 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 228
(V228L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149463
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051039]
[ENSMUST00000163586]
[ENSMUST00000177963]
[ENSMUST00000213257]
[ENSMUST00000216329]
[ENSMUST00000217093]
|
| AlphaFold |
Q9D2Z4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051039
AA Change: V215L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000054509
Gene: ENSMUSG00000051705
AA Change: V215L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
25 |
213 |
8.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163586
AA Change: V215L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000129441
Gene: ENSMUSG00000051705
AA Change: V215L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
38 |
226 |
1.3e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177963
AA Change: V215L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137228
Gene: ENSMUSG00000051705
AA Change: V215L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
25 |
213 |
8.3e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213257
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216045
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216329
AA Change: V228L
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217093
AA Change: V215L
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cysteine protease that is a member of the sentrin-specific protease family. The encoded protein is involved in processing and deconjugation of the ubiquitin-like protein termed, neural precursor cell expressed developmentally downregulated 8. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,735,540 (GRCm39) |
|
probably null |
Het |
| Arsk |
T |
C |
13: 76,222,907 (GRCm39) |
Y230C |
probably damaging |
Het |
| Atf7ip |
G |
A |
6: 136,559,389 (GRCm39) |
V737M |
probably damaging |
Het |
| Atp6v1e1 |
A |
T |
6: 120,781,011 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,557,260 (GRCm39) |
V3A |
probably benign |
Het |
| Brap |
T |
C |
5: 121,813,365 (GRCm39) |
S243P |
probably damaging |
Het |
| Camkmt |
T |
A |
17: 85,702,037 (GRCm39) |
I167N |
probably damaging |
Het |
| Ckap2l |
C |
A |
2: 129,111,114 (GRCm39) |
E694D |
probably damaging |
Het |
| Crmp1 |
G |
A |
5: 37,441,408 (GRCm39) |
V497I |
probably benign |
Het |
| Dbx2 |
A |
G |
15: 95,522,741 (GRCm39) |
V322A |
possibly damaging |
Het |
| Dll1 |
C |
A |
17: 15,590,513 (GRCm39) |
C401F |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,490,147 (GRCm39) |
T1991A |
probably damaging |
Het |
| Dock3 |
C |
T |
9: 107,036,651 (GRCm39) |
W42* |
probably null |
Het |
| Epha6 |
C |
A |
16: 60,245,198 (GRCm39) |
A334S |
possibly damaging |
Het |
| Hdac1-ps |
A |
G |
17: 78,800,287 (GRCm39) |
E426G |
probably damaging |
Het |
| Insrr |
C |
T |
3: 87,720,873 (GRCm39) |
R1044C |
probably damaging |
Het |
| Irs2 |
T |
C |
8: 11,054,961 (GRCm39) |
N1157S |
possibly damaging |
Het |
| Kndc1 |
T |
C |
7: 139,502,667 (GRCm39) |
|
probably null |
Het |
| Map3k19 |
T |
C |
1: 127,748,185 (GRCm39) |
N1241S |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,615,906 (GRCm39) |
F17S |
possibly damaging |
Het |
| Paqr5 |
C |
T |
9: 61,871,065 (GRCm39) |
R171Q |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,683,657 (GRCm39) |
D41E |
probably damaging |
Het |
| Plg |
T |
G |
17: 12,597,595 (GRCm39) |
L14R |
probably damaging |
Het |
| Prkab1 |
A |
G |
5: 116,158,092 (GRCm39) |
V168A |
probably benign |
Het |
| Prr35 |
G |
C |
17: 26,166,689 (GRCm39) |
P283A |
probably benign |
Het |
| Ptdss1 |
C |
T |
13: 67,101,595 (GRCm39) |
R95* |
probably null |
Het |
| Rab3gap2 |
T |
G |
1: 184,980,062 (GRCm39) |
S327A |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Homo |
| Sdr42e2 |
T |
C |
7: 120,425,332 (GRCm39) |
S308P |
probably damaging |
Het |
| Serpina10 |
A |
T |
12: 103,594,628 (GRCm39) |
I197K |
probably benign |
Het |
| Serpinb6d |
A |
G |
13: 33,854,718 (GRCm39) |
N231S |
probably benign |
Het |
| Sez6l2 |
T |
C |
7: 126,567,177 (GRCm39) |
V869A |
probably damaging |
Het |
| Sgo2b |
T |
A |
8: 64,380,769 (GRCm39) |
K688* |
probably null |
Het |
| Sh3kbp1 |
A |
T |
X: 158,624,176 (GRCm39) |
E39D |
probably benign |
Homo |
| Ufsp2 |
T |
C |
8: 46,438,504 (GRCm39) |
M194T |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,485,881 (GRCm39) |
I2997T |
possibly damaging |
Het |
| Vmn2r107 |
G |
A |
17: 20,595,637 (GRCm39) |
G730D |
probably damaging |
Het |
| Wdr72 |
T |
C |
9: 74,059,822 (GRCm39) |
Y411H |
possibly damaging |
Het |
| Xirp2 |
T |
C |
2: 67,343,212 (GRCm39) |
S1818P |
possibly damaging |
Het |
|
| Other mutations in Senp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03177:Senp8
|
APN |
9 |
59,644,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4458001:Senp8
|
UTSW |
9 |
59,644,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Senp8
|
UTSW |
9 |
59,644,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1984:Senp8
|
UTSW |
9 |
59,644,721 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4563:Senp8
|
UTSW |
9 |
59,657,546 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R4970:Senp8
|
UTSW |
9 |
59,644,504 (GRCm39) |
missense |
probably benign |
|
|
R7253:Senp8
|
UTSW |
9 |
59,644,478 (GRCm39) |
missense |
probably benign |
|
|
R7482:Senp8
|
UTSW |
9 |
59,644,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7706:Senp8
|
UTSW |
9 |
59,645,121 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8284:Senp8
|
UTSW |
9 |
59,644,814 (GRCm39) |
missense |
|
|
|
R8695:Senp8
|
UTSW |
9 |
59,644,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Senp8
|
UTSW |
9 |
59,645,105 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAATGTACCGCTTTCCTCAGG -3'
(R):5'- TCTTTGTGGAAGAGAAAGCCC -3'
Sequencing Primer
(F):5'- CGCTTTCCTCAGGATTACAGTGAAAC -3'
(R):5'- CCAGCTCAAGAGAACAGCTATG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation