Incidental Mutation 'R9153:Senp7'
| ID |
695183 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
068940-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R9153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 56006486 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 964
(V964I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: V937I
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: V937I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
352 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
395 |
N/A |
INTRINSIC |
|
low complexity region
|
639 |
646 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
734 |
999 |
7.8e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089362
AA Change: V964I
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: V964I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
413 |
422 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
673 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C48
|
761 |
1026 |
8.5e-36 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
99% (73/74) |
| MGI Phenotype |
FUNCTION: This gene encodes a SUMO deconjugating enzyme of the Sentrin/SUMO-specific protease (SENP) family. The encoded protein is a protease that exhibits deSUMOylating activity towards proteins involved in chromatin remodeling and promotes chromatin relaxation for DNA repair or transcription. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
A |
T |
11: 110,107,481 (GRCm39) |
S711R |
possibly damaging |
Het |
| Adnp |
C |
A |
2: 168,026,580 (GRCm39) |
Q238H |
possibly damaging |
Het |
| Akap13 |
A |
G |
7: 75,259,229 (GRCm39) |
T618A |
probably benign |
Het |
| Ankfn1 |
G |
A |
11: 89,302,845 (GRCm39) |
R58W |
probably damaging |
Het |
| Atp8b5 |
A |
G |
4: 43,308,493 (GRCm39) |
|
probably benign |
Het |
| Borcs5 |
G |
T |
6: 134,618,108 (GRCm39) |
|
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,517,906 (GRCm39) |
M25V |
possibly damaging |
Het |
| Canx |
A |
T |
11: 50,188,162 (GRCm39) |
D527E |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,382,152 (GRCm39) |
D24N |
probably damaging |
Het |
| Ccnt1 |
G |
A |
15: 98,441,159 (GRCm39) |
T703I |
probably benign |
Het |
| Cd46 |
T |
C |
1: 194,774,479 (GRCm39) |
S19G |
possibly damaging |
Het |
| Cdc25b |
G |
A |
2: 131,034,564 (GRCm39) |
E264K |
possibly damaging |
Het |
| Cdhr17 |
A |
T |
5: 17,040,916 (GRCm39) |
|
probably null |
Het |
| Cog5 |
A |
C |
12: 31,710,810 (GRCm39) |
K63N |
possibly damaging |
Het |
| Col28a1 |
G |
A |
6: 8,022,765 (GRCm39) |
T726I |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,690,365 (GRCm39) |
S219P |
probably damaging |
Het |
| Dnah12 |
T |
A |
14: 26,536,569 (GRCm39) |
W2162R |
probably damaging |
Het |
| Eef1a2 |
A |
G |
2: 180,789,774 (GRCm39) |
*464R |
probably null |
Het |
| Eif1a |
T |
A |
18: 46,741,036 (GRCm39) |
D90E |
probably damaging |
Het |
| Fasn |
C |
T |
11: 120,706,496 (GRCm39) |
R996Q |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,787 (GRCm39) |
|
probably null |
Het |
| Frat2 |
A |
G |
19: 41,835,806 (GRCm39) |
L182P |
probably damaging |
Het |
| Fxyd2 |
G |
T |
9: 45,319,609 (GRCm39) |
V24F |
probably damaging |
Het |
| Gabrd |
C |
T |
4: 155,470,496 (GRCm39) |
V319I |
probably damaging |
Het |
| H13 |
T |
G |
2: 152,533,788 (GRCm39) |
V267G |
possibly damaging |
Het |
| Hnf4g |
T |
C |
3: 3,573,378 (GRCm39) |
|
probably benign |
Het |
| Iglon5 |
T |
A |
7: 43,125,421 (GRCm39) |
T272S |
possibly damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,844,547 (GRCm39) |
M454L |
probably benign |
Het |
| Irf8 |
T |
C |
8: 121,480,400 (GRCm39) |
C304R |
probably benign |
Het |
| Itga2 |
A |
G |
13: 115,001,941 (GRCm39) |
F614L |
probably benign |
Het |
| Itgb4 |
A |
C |
11: 115,874,879 (GRCm39) |
H412P |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,064,678 (GRCm39) |
F921S |
probably damaging |
Het |
| Kctd13 |
A |
G |
7: 126,541,327 (GRCm39) |
D189G |
probably damaging |
Het |
| Meis2 |
G |
T |
2: 115,697,756 (GRCm39) |
P381T |
probably benign |
Het |
| Mertk |
G |
T |
2: 128,624,487 (GRCm39) |
A633S |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,942,993 (GRCm39) |
Y31C |
probably damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,627 (GRCm39) |
T455S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,404,744 (GRCm39) |
N700S |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,896,782 (GRCm39) |
T807A |
unknown |
Het |
| Nkx1-1 |
A |
T |
5: 33,588,703 (GRCm39) |
V195E |
unknown |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup160 |
A |
G |
2: 90,514,429 (GRCm39) |
T126A |
possibly damaging |
Het |
| Oca2 |
C |
T |
7: 55,943,586 (GRCm39) |
T253I |
probably benign |
Het |
| Odad2 |
T |
C |
18: 7,286,733 (GRCm39) |
K166R |
possibly damaging |
Het |
| Or6c209 |
T |
A |
10: 129,483,306 (GRCm39) |
I103N |
possibly damaging |
Het |
| P4ha1 |
A |
G |
10: 59,203,112 (GRCm39) |
K435R |
probably damaging |
Het |
| Pcdhgb4 |
T |
A |
18: 37,854,131 (GRCm39) |
N175K |
possibly damaging |
Het |
| Per3 |
A |
G |
4: 151,111,796 (GRCm39) |
L396P |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,925,739 (GRCm39) |
E338V |
possibly damaging |
Het |
| Plec |
G |
T |
15: 76,064,725 (GRCm39) |
R1782S |
unknown |
Het |
| Prpf39 |
A |
T |
12: 65,106,671 (GRCm39) |
Q593L |
probably damaging |
Het |
| Ptprq |
T |
C |
10: 107,416,126 (GRCm39) |
Y1724C |
probably damaging |
Het |
| Pygo1 |
T |
A |
9: 72,852,143 (GRCm39) |
V110D |
possibly damaging |
Het |
| Rasgrf1 |
T |
A |
9: 89,826,790 (GRCm39) |
L133Q |
probably damaging |
Het |
| Rgs10 |
G |
A |
7: 127,975,733 (GRCm39) |
R145C |
probably damaging |
Het |
| Secisbp2 |
A |
G |
13: 51,833,855 (GRCm39) |
Y665C |
possibly damaging |
Het |
| Sel1l3 |
T |
A |
5: 53,293,188 (GRCm39) |
T843S |
probably benign |
Het |
| Setd4 |
T |
A |
16: 93,384,722 (GRCm39) |
D322V |
possibly damaging |
Het |
| Sftpc |
T |
A |
14: 70,759,650 (GRCm39) |
T90S |
probably benign |
Het |
| Shq1 |
A |
T |
6: 100,588,738 (GRCm39) |
D382E |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,029 (GRCm39) |
R13G |
probably damaging |
Het |
| Slc12a1 |
T |
G |
2: 125,002,989 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,805 (GRCm39) |
F385S |
probably benign |
Het |
| Stk38l |
A |
G |
6: 146,660,048 (GRCm39) |
T27A |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,899,327 (GRCm39) |
S9P |
probably damaging |
Het |
| Tcstv1a |
T |
A |
13: 120,355,290 (GRCm39) |
D114V |
probably damaging |
Het |
| Tmigd1 |
A |
T |
11: 76,795,468 (GRCm39) |
R25S |
probably benign |
Het |
| Tnrc6a |
T |
A |
7: 122,773,519 (GRCm39) |
Y1154N |
probably damaging |
Het |
| Tox2 |
T |
C |
2: 163,045,091 (GRCm39) |
V3A |
|
Het |
| Ubr1 |
A |
T |
2: 120,756,469 (GRCm39) |
D719E |
probably benign |
Het |
| Ubr3 |
A |
G |
2: 69,795,822 (GRCm39) |
K923R |
|
Het |
| Vmn2r12 |
C |
T |
5: 109,234,203 (GRCm39) |
V670M |
probably damaging |
Het |
| Zfp983 |
T |
C |
17: 21,876,522 (GRCm39) |
S9P |
probably benign |
Het |
| Zfp986 |
A |
T |
4: 145,626,030 (GRCm39) |
H230L |
probably damaging |
Het |
| Zscan4f |
G |
A |
7: 11,135,241 (GRCm39) |
E216K |
probably benign |
Het |
|
| Other mutations in Senp7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00895:Senp7
|
APN |
16 |
55,902,740 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01610:Senp7
|
APN |
16 |
55,996,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01627:Senp7
|
APN |
16 |
55,992,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02748:Senp7
|
APN |
16 |
56,006,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03031:Senp7
|
APN |
16 |
55,996,249 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03083:Senp7
|
APN |
16 |
55,992,228 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0034:Senp7
|
UTSW |
16 |
55,973,933 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0200:Senp7
|
UTSW |
16 |
55,944,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0242:Senp7
|
UTSW |
16 |
55,999,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0242:Senp7
|
UTSW |
16 |
55,999,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0547:Senp7
|
UTSW |
16 |
55,996,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0608:Senp7
|
UTSW |
16 |
55,944,236 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1595:Senp7
|
UTSW |
16 |
56,005,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1737:Senp7
|
UTSW |
16 |
55,944,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1837:Senp7
|
UTSW |
16 |
55,978,879 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1945:Senp7
|
UTSW |
16 |
55,944,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2143:Senp7
|
UTSW |
16 |
55,990,169 (GRCm39) |
missense |
probably benign |
|
|
R2275:Senp7
|
UTSW |
16 |
56,005,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2508:Senp7
|
UTSW |
16 |
55,971,725 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3404:Senp7
|
UTSW |
16 |
56,008,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3405:Senp7
|
UTSW |
16 |
56,008,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3717:Senp7
|
UTSW |
16 |
55,999,420 (GRCm39) |
splice site |
probably benign |
|
|
R3885:Senp7
|
UTSW |
16 |
56,006,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4159:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4160:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4161:Senp7
|
UTSW |
16 |
55,973,832 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4512:Senp7
|
UTSW |
16 |
55,986,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5291:Senp7
|
UTSW |
16 |
56,006,542 (GRCm39) |
nonsense |
probably null |
|
|
R5315:Senp7
|
UTSW |
16 |
56,000,889 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5390:Senp7
|
UTSW |
16 |
55,990,279 (GRCm39) |
missense |
probably benign |
|
|
R5424:Senp7
|
UTSW |
16 |
56,006,471 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5643:Senp7
|
UTSW |
16 |
56,004,512 (GRCm39) |
splice site |
silent |
|
|
R5644:Senp7
|
UTSW |
16 |
56,004,512 (GRCm39) |
splice site |
silent |
|
|
R5645:Senp7
|
UTSW |
16 |
55,993,571 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5799:Senp7
|
UTSW |
16 |
55,959,468 (GRCm39) |
splice site |
probably null |
|
|
R5860:Senp7
|
UTSW |
16 |
55,975,722 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5954:Senp7
|
UTSW |
16 |
55,990,234 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6164:Senp7
|
UTSW |
16 |
55,990,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6280:Senp7
|
UTSW |
16 |
55,982,738 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6647:Senp7
|
UTSW |
16 |
55,993,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6652:Senp7
|
UTSW |
16 |
55,944,257 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7310:Senp7
|
UTSW |
16 |
56,006,445 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7460:Senp7
|
UTSW |
16 |
55,993,545 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7480:Senp7
|
UTSW |
16 |
55,975,589 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7609:Senp7
|
UTSW |
16 |
55,932,000 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7760:Senp7
|
UTSW |
16 |
55,959,442 (GRCm39) |
missense |
probably benign |
|
|
R8171:Senp7
|
UTSW |
16 |
55,932,089 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8290:Senp7
|
UTSW |
16 |
55,974,000 (GRCm39) |
nonsense |
probably null |
|
|
R8305:Senp7
|
UTSW |
16 |
55,975,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8353:Senp7
|
UTSW |
16 |
56,008,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8394:Senp7
|
UTSW |
16 |
55,990,190 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R8428:Senp7
|
UTSW |
16 |
55,999,391 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Senp7
|
UTSW |
16 |
56,008,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8554:Senp7
|
UTSW |
16 |
55,978,973 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8669:Senp7
|
UTSW |
16 |
55,986,315 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9521:Senp7
|
UTSW |
16 |
55,992,144 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9617:Senp7
|
UTSW |
16 |
55,971,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9624:Senp7
|
UTSW |
16 |
55,990,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9631:Senp7
|
UTSW |
16 |
55,975,631 (GRCm39) |
missense |
probably benign |
0.45 |
|
R9657:Senp7
|
UTSW |
16 |
55,944,295 (GRCm39) |
nonsense |
probably null |
|
|
R9718:Senp7
|
UTSW |
16 |
55,944,277 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9727:Senp7
|
UTSW |
16 |
55,990,169 (GRCm39) |
missense |
probably benign |
|
|
U24488:Senp7
|
UTSW |
16 |
56,005,182 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTGGCATTTATGAAGGCTC -3'
(R):5'- TAGGTCACTGTGGTCTCCATG -3'
Sequencing Primer
(F):5'- TGTGAAAAATCTGTCTTTGGAAATTG -3'
(R):5'- GCCATGTCCGTGCCTAC -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation