Incidental Mutation 'R2321:Senp6'
| ID |
245644 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp6
|
| Ensembl Gene |
ENSMUSG00000034252 |
| Gene Name |
SUMO/sentrin specific peptidase 6 |
| Synonyms |
2810017C20Rik, E130319N12Rik |
| MMRRC Submission |
040313-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
79974185-80052235 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 80031022 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 575
(I575L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126777
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037484]
[ENSMUST00000164859]
[ENSMUST00000165607]
[ENSMUST00000175999]
[ENSMUST00000176360]
[ENSMUST00000176527]
|
| AlphaFold |
Q6P7W0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037484
AA Change: I568L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000047220
Gene: ENSMUSG00000034252
AA Change: I568L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
242 |
260 |
7.23e0 |
SMART |
|
Pfam:Peptidase_C48
|
700 |
826 |
3.5e-23 |
PFAM |
|
Pfam:Peptidase_C48
|
965 |
1096 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164859
AA Change: I402L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128918
Gene: ENSMUSG00000034252
AA Change: I402L
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
76 |
94 |
7.23e0 |
SMART |
|
Pfam:Peptidase_C48
|
534 |
660 |
5.2e-23 |
PFAM |
|
Pfam:Peptidase_C48
|
799 |
930 |
1.6e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165458
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165607
AA Change: I575L
PolyPhen 2
Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126777
Gene: ENSMUSG00000034252
AA Change: I575L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
12 |
N/A |
INTRINSIC |
|
ZnF_C2HC
|
249 |
267 |
7.23e0 |
SMART |
|
Pfam:Peptidase_C48
|
707 |
833 |
3.4e-23 |
PFAM |
|
Pfam:Peptidase_C48
|
972 |
1103 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175910
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000175999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176360
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176607
|
| SMART Domains |
Protein: ENSMUSP00000135231
Gene: ENSMUSG00000034252
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2HC
|
76 |
94 |
7.23e0 |
SMART |
|
Pfam:Peptidase_C48
|
534 |
660 |
4.9e-23 |
PFAM |
|
Pfam:Peptidase_C48
|
799 |
911 |
2.1e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176527
|
| SMART Domains |
Protein: ENSMUSP00000135719
Gene: ENSMUSG00000034252
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_C48
|
114 |
165 |
6.5e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176648
|
| Meta Mutation Damage Score |
0.0913 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (39/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, covalent attachment of UBLs does not result in degradation of the modified proteins. SUMO1 modification is implicated in the targeting of RANGAP1 (MIM 602362) to the nuclear pore complex, as well as in stabilization of I-kappa-B-alpha (NFKBIA; MIM 164008) from degradation by the 26S proteasome. Like ubiquitin, UBLs are synthesized as precursor proteins, with 1 or more amino acids following the C-terminal glycine-glycine residues of the mature UBL protein. Thus, the tail sequences of the UBL precursors need to be removed by UBL-specific proteases, such as SENP6, prior to their conjugation to target proteins (Kim et al., 2000 [PubMed 10799485]). SENPs also display isopeptidase activity for deconjugation of SUMO-conjugated substrates (Lima and Reverter, 2008 [PubMed 18799455]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a gene trap insertion exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abcf2 |
A |
T |
5: 24,772,251 (GRCm39) |
Y492* |
probably null |
Het |
| Adcy9 |
A |
G |
16: 4,106,132 (GRCm39) |
V994A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,231,733 (GRCm39) |
|
probably benign |
Het |
| Bhlha15 |
T |
C |
5: 144,128,014 (GRCm39) |
L42P |
probably damaging |
Het |
| Clca4b |
C |
A |
3: 144,638,134 (GRCm39) |
A43S |
probably benign |
Het |
| Cpq |
A |
G |
15: 33,594,291 (GRCm39) |
H434R |
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,801,822 (GRCm39) |
E994G |
probably benign |
Het |
| Dcaf1 |
T |
C |
9: 106,715,672 (GRCm39) |
L263S |
probably benign |
Het |
| Dnajc12 |
G |
T |
10: 63,242,990 (GRCm39) |
|
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,054,689 (GRCm39) |
I215V |
possibly damaging |
Het |
| Krtap17-1 |
T |
C |
11: 99,884,746 (GRCm39) |
D7G |
unknown |
Het |
| Men1 |
A |
G |
19: 6,389,868 (GRCm39) |
D466G |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,933,436 (GRCm39) |
F624I |
possibly damaging |
Het |
| Ncam1 |
A |
C |
9: 49,456,132 (GRCm39) |
|
probably benign |
Het |
| Or2y1d |
A |
G |
11: 49,322,107 (GRCm39) |
N268S |
probably benign |
Het |
| Otol1 |
T |
A |
3: 69,925,858 (GRCm39) |
L11* |
probably null |
Het |
| Plekhg4 |
T |
C |
8: 106,104,172 (GRCm39) |
S447P |
probably benign |
Het |
| Pnma8b |
G |
T |
7: 16,679,490 (GRCm39) |
R158L |
unknown |
Het |
| Ppp1r2 |
A |
T |
16: 31,084,121 (GRCm39) |
|
probably null |
Het |
| Rad51ap2 |
G |
A |
12: 11,507,058 (GRCm39) |
G327R |
probably damaging |
Het |
| Rbm26 |
T |
C |
14: 105,390,863 (GRCm39) |
T208A |
unknown |
Het |
| Reln |
T |
C |
5: 22,120,018 (GRCm39) |
Y2878C |
probably damaging |
Het |
| Rnps1 |
T |
A |
17: 24,641,142 (GRCm39) |
F181I |
probably damaging |
Het |
| Serpinh1 |
T |
C |
7: 98,995,592 (GRCm39) |
D330G |
probably damaging |
Het |
| Slamf9 |
G |
T |
1: 172,304,980 (GRCm39) |
C198F |
probably damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,024,694 (GRCm39) |
V261D |
possibly damaging |
Het |
| Slc26a4 |
A |
G |
12: 31,590,543 (GRCm39) |
V370A |
probably damaging |
Het |
| Tasp1 |
A |
G |
2: 139,899,332 (GRCm39) |
M7T |
probably benign |
Het |
| Tet2 |
T |
C |
3: 133,192,100 (GRCm39) |
N778S |
possibly damaging |
Het |
| Tm9sf4 |
T |
A |
2: 153,046,506 (GRCm39) |
Y582N |
probably damaging |
Het |
| Tmem131l |
T |
A |
3: 83,843,330 (GRCm39) |
H508L |
probably damaging |
Het |
| Tmem71 |
T |
G |
15: 66,423,849 (GRCm39) |
D139A |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,324,229 (GRCm39) |
R418G |
possibly damaging |
Het |
| Wdr64 |
A |
C |
1: 175,622,653 (GRCm39) |
K810T |
possibly damaging |
Het |
| Zgrf1 |
C |
A |
3: 127,356,056 (GRCm39) |
Y427* |
probably null |
Het |
|
| Other mutations in Senp6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Senp6
|
APN |
9 |
80,023,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00487:Senp6
|
APN |
9 |
80,021,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01285:Senp6
|
APN |
9 |
80,044,000 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL01337:Senp6
|
APN |
9 |
80,043,792 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01563:Senp6
|
APN |
9 |
80,029,290 (GRCm39) |
missense |
probably benign |
|
|
IGL01633:Senp6
|
APN |
9 |
79,999,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02115:Senp6
|
APN |
9 |
80,029,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02208:Senp6
|
APN |
9 |
80,021,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02378:Senp6
|
APN |
9 |
80,033,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
A4554:Senp6
|
UTSW |
9 |
80,055,740 (GRCm39) |
unclassified |
probably benign |
|
|
R0031:Senp6
|
UTSW |
9 |
80,033,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Senp6
|
UTSW |
9 |
80,023,952 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0276:Senp6
|
UTSW |
9 |
80,044,029 (GRCm39) |
missense |
probably benign |
|
|
R0294:Senp6
|
UTSW |
9 |
80,021,007 (GRCm39) |
splice site |
probably null |
|
|
R0308:Senp6
|
UTSW |
9 |
80,040,265 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0531:Senp6
|
UTSW |
9 |
80,031,166 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0743:Senp6
|
UTSW |
9 |
80,000,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0883:Senp6
|
UTSW |
9 |
80,023,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1071:Senp6
|
UTSW |
9 |
80,044,011 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1171:Senp6
|
UTSW |
9 |
80,024,007 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1340:Senp6
|
UTSW |
9 |
80,029,305 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1571:Senp6
|
UTSW |
9 |
80,000,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Senp6
|
UTSW |
9 |
80,025,911 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1909:Senp6
|
UTSW |
9 |
80,021,056 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2008:Senp6
|
UTSW |
9 |
80,033,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2067:Senp6
|
UTSW |
9 |
79,997,151 (GRCm39) |
missense |
probably benign |
0.11 |
|
R2077:Senp6
|
UTSW |
9 |
80,033,437 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2141:Senp6
|
UTSW |
9 |
80,031,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2760:Senp6
|
UTSW |
9 |
80,029,260 (GRCm39) |
missense |
probably null |
|
|
R2939:Senp6
|
UTSW |
9 |
80,051,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2940:Senp6
|
UTSW |
9 |
80,051,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3081:Senp6
|
UTSW |
9 |
80,051,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3784:Senp6
|
UTSW |
9 |
79,999,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3785:Senp6
|
UTSW |
9 |
79,999,568 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3800:Senp6
|
UTSW |
9 |
79,994,735 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R3857:Senp6
|
UTSW |
9 |
79,999,603 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4790:Senp6
|
UTSW |
9 |
79,997,140 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5117:Senp6
|
UTSW |
9 |
80,038,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5418:Senp6
|
UTSW |
9 |
80,029,151 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5477:Senp6
|
UTSW |
9 |
80,051,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Senp6
|
UTSW |
9 |
79,997,158 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5717:Senp6
|
UTSW |
9 |
79,999,594 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5800:Senp6
|
UTSW |
9 |
80,033,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5802:Senp6
|
UTSW |
9 |
80,025,926 (GRCm39) |
unclassified |
probably benign |
|
|
R5899:Senp6
|
UTSW |
9 |
80,049,352 (GRCm39) |
splice site |
probably benign |
|
|
R5918:Senp6
|
UTSW |
9 |
80,021,398 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5958:Senp6
|
UTSW |
9 |
80,049,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6360:Senp6
|
UTSW |
9 |
80,021,088 (GRCm39) |
missense |
probably benign |
|
|
R6477:Senp6
|
UTSW |
9 |
80,000,907 (GRCm39) |
nonsense |
probably null |
|
|
R6628:Senp6
|
UTSW |
9 |
80,040,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6703:Senp6
|
UTSW |
9 |
80,029,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7236:Senp6
|
UTSW |
9 |
80,040,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Senp6
|
UTSW |
9 |
80,049,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7290:Senp6
|
UTSW |
9 |
80,043,797 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7319:Senp6
|
UTSW |
9 |
80,033,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7422:Senp6
|
UTSW |
9 |
80,021,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Senp6
|
UTSW |
9 |
80,049,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Senp6
|
UTSW |
9 |
80,029,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Senp6
|
UTSW |
9 |
80,031,010 (GRCm39) |
nonsense |
probably null |
|
|
R8428:Senp6
|
UTSW |
9 |
80,025,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Senp6
|
UTSW |
9 |
79,999,561 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9158:Senp6
|
UTSW |
9 |
79,994,732 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9300:Senp6
|
UTSW |
9 |
80,049,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9347:Senp6
|
UTSW |
9 |
80,046,379 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9387:Senp6
|
UTSW |
9 |
79,999,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9521:Senp6
|
UTSW |
9 |
79,974,687 (GRCm39) |
start gained |
probably benign |
|
|
R9652:Senp6
|
UTSW |
9 |
80,021,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9794:Senp6
|
UTSW |
9 |
79,999,590 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Senp6
|
UTSW |
9 |
80,049,548 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Senp6
|
UTSW |
9 |
80,010,975 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCATACACAGATATGGACTCCAG -3'
(R):5'- CGCGCAGTTTCCTTTGATG -3'
Sequencing Primer
(F):5'- CAGTATTCATCGTGTAGCCCAGG -3'
(R):5'- GCTCTCTTCATAGCTTCTTGTACAGG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation