Incidental Mutation 'R0608:Senp7'
| ID |
54449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
038797-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R0608 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55944236 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 187
(T187A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043023
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049128]
[ENSMUST00000089360]
[ENSMUST00000089362]
[ENSMUST00000201011]
[ENSMUST00000202000]
[ENSMUST00000202799]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049128
AA Change: T187A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
86 |
118 |
1.08e-5 |
PROSPERO |
|
internal_repeat_1
|
152 |
184 |
1.08e-5 |
PROSPERO |
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089360
AA Change: T160A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: T160A
| 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: T187A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: T187A
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000201011
AA Change: T160A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201915
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202000
AA Change: T187A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: T187A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202799
AA Change: T160A
PolyPhen 2
Score 0.493 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: T160A
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
59 |
91 |
2.07e-5 |
PROSPERO |
|
internal_repeat_1
|
125 |
157 |
2.07e-5 |
PROSPERO |
|
low complexity region
|
165 |
181 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.7%
|
| Validation Efficiency |
|
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
A |
G |
14: 78,748,193 (GRCm39) |
V1398A |
probably benign |
Het |
| Ampd3 |
C |
A |
7: 110,394,997 (GRCm39) |
D315E |
probably damaging |
Het |
| Ampd3 |
T |
A |
7: 110,394,998 (GRCm39) |
F316I |
probably damaging |
Het |
| Arhgef40 |
A |
C |
14: 52,234,431 (GRCm39) |
E911D |
probably damaging |
Het |
| Atxn2l |
A |
G |
7: 126,100,588 (GRCm39) |
|
probably null |
Het |
| Bckdhb |
T |
G |
9: 83,835,789 (GRCm39) |
F98V |
probably damaging |
Het |
| Calhm1 |
C |
T |
19: 47,132,280 (GRCm39) |
V112I |
probably benign |
Het |
| Ccdc28a |
G |
A |
10: 18,100,699 (GRCm39) |
R90C |
probably damaging |
Het |
| Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
| Cds1 |
G |
A |
5: 101,962,299 (GRCm39) |
V305M |
probably damaging |
Het |
| Cep128 |
T |
G |
12: 90,966,309 (GRCm39) |
|
probably benign |
Het |
| Cep72 |
A |
T |
13: 74,186,423 (GRCm39) |
H249Q |
probably damaging |
Het |
| Cfap70 |
A |
T |
14: 20,498,631 (GRCm39) |
Y19N |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 114,012,364 (GRCm39) |
|
probably benign |
Het |
| Cstdc6 |
T |
C |
16: 36,143,386 (GRCm39) |
|
probably null |
Het |
| Cysltr1 |
A |
G |
X: 105,622,261 (GRCm39) |
V75A |
possibly damaging |
Het |
| Dnaaf11 |
T |
A |
15: 66,252,323 (GRCm39) |
M448L |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,981,575 (GRCm39) |
Y1716* |
probably null |
Het |
| Dnm1 |
T |
C |
2: 32,225,836 (GRCm39) |
E383G |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,329,437 (GRCm39) |
|
probably null |
Het |
| Edil3 |
T |
C |
13: 89,332,968 (GRCm39) |
S375P |
probably damaging |
Het |
| Eme1 |
A |
G |
11: 94,540,908 (GRCm39) |
C277R |
probably damaging |
Het |
| Enam |
T |
C |
5: 88,640,886 (GRCm39) |
W183R |
possibly damaging |
Het |
| Fbxl6 |
C |
T |
15: 76,420,953 (GRCm39) |
V341M |
probably benign |
Het |
| Fgf14 |
A |
G |
14: 124,914,015 (GRCm39) |
S39P |
probably damaging |
Het |
| Fmo4 |
C |
T |
1: 162,631,220 (GRCm39) |
R249H |
possibly damaging |
Het |
| Gle1 |
T |
A |
2: 29,830,240 (GRCm39) |
D265E |
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,693,235 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
G |
T |
16: 36,736,692 (GRCm39) |
E1980* |
probably null |
Het |
| Hap1 |
A |
G |
11: 100,240,131 (GRCm39) |
L555P |
probably damaging |
Het |
| Heca |
T |
C |
10: 17,791,039 (GRCm39) |
D339G |
possibly damaging |
Het |
| Hepacam2 |
T |
C |
6: 3,483,479 (GRCm39) |
T101A |
possibly damaging |
Het |
| Ift88 |
T |
C |
14: 57,733,678 (GRCm39) |
V707A |
probably benign |
Het |
| Kdm3a |
C |
T |
6: 71,597,030 (GRCm39) |
G252D |
probably benign |
Het |
| Klhl11 |
A |
G |
11: 100,363,068 (GRCm39) |
Y163H |
probably damaging |
Het |
| Kntc1 |
A |
T |
5: 123,924,137 (GRCm39) |
N1008Y |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,316,587 (GRCm39) |
N2131K |
probably benign |
Het |
| Magi3 |
C |
G |
3: 103,924,873 (GRCm39) |
G1092A |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Minar2 |
A |
G |
18: 59,195,531 (GRCm39) |
|
probably null |
Het |
| Mrps26 |
G |
T |
2: 130,405,778 (GRCm39) |
R27L |
possibly damaging |
Het |
| Myof |
T |
C |
19: 37,904,952 (GRCm39) |
D1624G |
probably damaging |
Het |
| Naif1 |
T |
C |
2: 32,344,908 (GRCm39) |
M204T |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,784 (GRCm39) |
E179G |
possibly damaging |
Het |
| Neb |
A |
T |
2: 52,216,769 (GRCm39) |
D135E |
probably benign |
Het |
| Nlrp6 |
C |
T |
7: 140,503,399 (GRCm39) |
Q502* |
probably null |
Het |
| Nploc4 |
A |
G |
11: 120,304,507 (GRCm39) |
L238P |
probably damaging |
Het |
| Obi1 |
T |
C |
14: 104,716,963 (GRCm39) |
Y470C |
probably damaging |
Het |
| Or4d2 |
G |
A |
11: 87,784,022 (GRCm39) |
H243Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,861 (GRCm39) |
V523E |
probably damaging |
Het |
| Pdgfra |
T |
C |
5: 75,324,438 (GRCm39) |
Y98H |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,936,459 (GRCm39) |
R590H |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,726,628 (GRCm39) |
Y328* |
probably null |
Het |
| Pnpla8 |
C |
T |
12: 44,330,246 (GRCm39) |
P48L |
probably benign |
Het |
| Rab44 |
T |
A |
17: 29,366,317 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,329,720 (GRCm39) |
I3031T |
probably damaging |
Het |
| Sbno1 |
T |
C |
5: 124,522,604 (GRCm39) |
D1072G |
probably damaging |
Het |
| Serpinh1 |
A |
G |
7: 98,998,601 (GRCm39) |
C10R |
unknown |
Het |
| Sh2d4a |
A |
G |
8: 68,799,346 (GRCm39) |
Y405C |
possibly damaging |
Het |
| Slc26a7 |
T |
C |
4: 14,621,317 (GRCm39) |
D23G |
probably benign |
Het |
| Slc7a7 |
A |
G |
14: 54,615,259 (GRCm39) |
L246P |
probably damaging |
Het |
| Spire1 |
T |
C |
18: 67,661,945 (GRCm39) |
R163G |
probably damaging |
Het |
| Stxbp2 |
T |
A |
8: 3,682,559 (GRCm39) |
D49E |
probably damaging |
Het |
| Susd2 |
C |
T |
10: 75,474,069 (GRCm39) |
A509T |
probably benign |
Het |
| Sycp2 |
A |
G |
2: 178,024,197 (GRCm39) |
F396L |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,010,587 (GRCm39) |
L2499P |
probably damaging |
Het |
| Syt10 |
C |
A |
15: 89,711,144 (GRCm39) |
A130S |
probably benign |
Het |
| Sytl4 |
A |
T |
X: 132,862,936 (GRCm39) |
D16E |
probably benign |
Het |
| Tab2 |
C |
T |
10: 7,795,883 (GRCm39) |
V126I |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,148,317 (GRCm39) |
T363A |
probably damaging |
Het |
| Terb2 |
A |
G |
2: 122,016,816 (GRCm39) |
D16G |
probably benign |
Het |
| Tm2d2 |
A |
G |
8: 25,510,552 (GRCm39) |
E137G |
probably benign |
Het |
| Trim30d |
T |
A |
7: 104,121,692 (GRCm39) |
H201L |
probably damaging |
Het |
| Tspan3 |
A |
G |
9: 56,054,669 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,617,667 (GRCm39) |
L16268Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,626,529 (GRCm39) |
|
probably null |
Het |
| Ubap2 |
T |
A |
4: 41,218,319 (GRCm39) |
T263S |
probably benign |
Het |
| Vmn2r100 |
C |
A |
17: 19,742,382 (GRCm39) |
P252Q |
possibly damaging |
Het |
| Zeb2 |
A |
T |
2: 44,886,138 (GRCm39) |
M973K |
possibly damaging |
Het |
| Zfp229 |
A |
G |
17: 21,965,615 (GRCm39) |
E615G |
probably damaging |
Het |
| Zfp655 |
T |
A |
5: 145,180,867 (GRCm39) |
S242T |
possibly damaging |
Het |
| Zfp788 |
T |
A |
7: 41,297,705 (GRCm39) |
F62I |
possibly damaging |
Het |
| Zmynd8 |
A |
G |
2: 165,629,078 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R9153:Senp7
|
UTSW |
16 |
56,006,486 (GRCm39) |
missense |
probably benign |
0.34 |
|
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'- CGTTGATTCCCTGAATGCTACGATCC -3'
(R):5'- ACTGCTGCTTCCAAAAGACATCCTATG -3'
Sequencing Primer
(F):5'- CCTGAATGCTACGATCCTAATAAAG -3'
(R):5'- TATGGGCAAAAGTCACACTAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation