Incidental Mutation 'R1945:Senp7'
| ID |
216624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
039963-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R1945 (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 55944309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 211
(H211R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144116
(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: H211R
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000043023
Gene: ENSMUSG00000052917
AA Change: H211R
| 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 |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: H184R
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: H184R
| 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 |
possibly damaging
Transcript: ENSMUST00000089362
AA Change: H211R
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: H211R
| 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: H184R
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201915
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202000
AA Change: H211R
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144116
Gene: ENSMUSG00000052917
AA Change: H211R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
208 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202799
AA Change: H184R
PolyPhen 2
Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144348
Gene: ENSMUSG00000052917
AA Change: H184R
| 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: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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 |
|---|
| 4930562C15Rik |
A |
G |
16: 4,653,549 (GRCm39) |
I33V |
unknown |
Het |
| Abca1 |
ACGTCTTCACCAGGTAATC |
AC |
4: 53,061,509 (GRCm39) |
|
probably null |
Het |
| Amotl2 |
T |
C |
9: 102,597,753 (GRCm39) |
S171P |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,005,940 (GRCm39) |
E585V |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,682,710 (GRCm39) |
V34E |
probably benign |
Het |
| Atrip |
T |
A |
9: 108,900,935 (GRCm39) |
I135F |
probably damaging |
Het |
| Bglap |
A |
G |
3: 88,290,971 (GRCm39) |
Y87H |
probably damaging |
Het |
| Camk2n1 |
G |
A |
4: 138,184,094 (GRCm39) |
V78I |
possibly damaging |
Het |
| Ccdc92b |
A |
G |
11: 74,520,835 (GRCm39) |
I46V |
probably benign |
Het |
| Cdc14b |
T |
C |
13: 64,367,704 (GRCm39) |
Y208C |
probably damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,265,567 (GRCm39) |
R1455Q |
probably damaging |
Het |
| Cep170 |
C |
A |
1: 176,621,100 (GRCm39) |
G26* |
probably null |
Het |
| Cfap46 |
A |
G |
7: 139,259,819 (GRCm39) |
F217S |
probably damaging |
Het |
| Col11a2 |
A |
T |
17: 34,278,142 (GRCm39) |
D691V |
probably damaging |
Het |
| Col7a1 |
G |
A |
9: 108,789,078 (GRCm39) |
V798I |
unknown |
Het |
| Coq8b |
CGCA |
CGCAGCA |
7: 26,933,405 (GRCm39) |
|
probably benign |
Het |
| Coq8b |
GCA |
GCAACA |
7: 26,933,406 (GRCm39) |
|
probably benign |
Het |
| Dcaf5 |
T |
C |
12: 80,385,468 (GRCm39) |
D886G |
probably benign |
Het |
| Ern1 |
A |
G |
11: 106,312,776 (GRCm39) |
S202P |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,897,233 (GRCm39) |
C295R |
probably damaging |
Het |
| Ghdc |
C |
T |
11: 100,660,031 (GRCm39) |
A239T |
probably benign |
Het |
| Grik4 |
T |
C |
9: 42,432,300 (GRCm39) |
D899G |
possibly damaging |
Het |
| Hacd2 |
C |
A |
16: 34,922,354 (GRCm39) |
T181K |
possibly damaging |
Het |
| Havcr2 |
T |
C |
11: 46,345,877 (GRCm39) |
L17P |
unknown |
Het |
| Herc3 |
T |
C |
6: 58,864,424 (GRCm39) |
V686A |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,671 (GRCm39) |
L235P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,884,279 (GRCm39) |
Q988* |
probably null |
Het |
| Itprid2 |
T |
C |
2: 79,492,996 (GRCm39) |
V1181A |
probably benign |
Het |
| Krt32 |
T |
A |
11: 99,975,670 (GRCm39) |
|
probably null |
Het |
| Krt33a |
T |
C |
11: 99,903,535 (GRCm39) |
N199S |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,052,848 (GRCm39) |
S394T |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,222,545 (GRCm39) |
V243A |
probably benign |
Het |
| Loxhd1 |
A |
G |
18: 77,492,504 (GRCm39) |
Y1315C |
probably damaging |
Het |
| Macf1 |
A |
T |
4: 123,384,453 (GRCm39) |
L1148* |
probably null |
Het |
| Mill2 |
A |
G |
7: 18,575,419 (GRCm39) |
H42R |
probably benign |
Het |
| Myo15a |
T |
C |
11: 60,392,909 (GRCm39) |
F2194L |
probably damaging |
Het |
| Myo15b |
A |
T |
11: 115,769,224 (GRCm39) |
I1472F |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,479,965 (GRCm39) |
S36G |
possibly damaging |
Het |
| Nav2 |
A |
G |
7: 49,114,620 (GRCm39) |
Y868C |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,571,979 (GRCm39) |
I308T |
probably damaging |
Het |
| Nono |
T |
C |
X: 100,485,429 (GRCm39) |
|
probably null |
Het |
| Npc1l1 |
T |
A |
11: 6,164,588 (GRCm39) |
I1154F |
possibly damaging |
Het |
| Npc1l1 |
C |
T |
11: 6,175,199 (GRCm39) |
W592* |
probably null |
Het |
| Nsg2 |
T |
C |
11: 32,005,068 (GRCm39) |
V90A |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,812,983 (GRCm39) |
N225S |
possibly damaging |
Het |
| Oosp2 |
C |
T |
19: 11,626,959 (GRCm39) |
|
probably null |
Het |
| Or1j12 |
T |
C |
2: 36,343,043 (GRCm39) |
W149R |
probably damaging |
Het |
| Or4c123 |
T |
C |
2: 89,127,128 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pcdhb4 |
A |
T |
18: 37,441,921 (GRCm39) |
R410S |
probably damaging |
Het |
| Pde6c |
T |
A |
19: 38,145,967 (GRCm39) |
D418E |
probably damaging |
Het |
| Pik3ap1 |
A |
T |
19: 41,262,776 (GRCm39) |
S799T |
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,185 (GRCm39) |
N198S |
probably damaging |
Het |
| Psmb3 |
T |
C |
11: 97,601,981 (GRCm39) |
F117S |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,418,249 (GRCm39) |
M1709K |
probably benign |
Het |
| Recql5 |
G |
A |
11: 115,819,123 (GRCm39) |
R148* |
probably null |
Het |
| Reep3 |
A |
G |
10: 66,871,678 (GRCm39) |
S97P |
probably damaging |
Het |
| Rnase12 |
T |
A |
14: 51,294,463 (GRCm39) |
Q72L |
possibly damaging |
Het |
| Scd3 |
T |
C |
19: 44,224,219 (GRCm39) |
Y151H |
probably benign |
Het |
| Scn10a |
A |
T |
9: 119,520,520 (GRCm39) |
S127T |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,506,324 (GRCm39) |
W1522R |
probably damaging |
Het |
| Septin10 |
C |
T |
10: 59,016,841 (GRCm39) |
|
probably null |
Het |
| Serpinb6d |
T |
C |
13: 33,851,663 (GRCm39) |
V140A |
possibly damaging |
Het |
| Sned1 |
A |
G |
1: 93,198,960 (GRCm39) |
E457G |
probably benign |
Het |
| Spag17 |
A |
C |
3: 99,847,298 (GRCm39) |
M76L |
probably benign |
Het |
| Spata31e2 |
C |
A |
1: 26,721,395 (GRCm39) |
V1262F |
probably benign |
Het |
| Spata31e3 |
C |
T |
13: 50,399,527 (GRCm39) |
G933E |
probably damaging |
Het |
| Sspo |
A |
T |
6: 48,466,707 (GRCm39) |
E105V |
possibly damaging |
Het |
| Stoml3 |
T |
A |
3: 53,412,866 (GRCm39) |
D173E |
possibly damaging |
Het |
| Sun3 |
T |
C |
11: 8,988,296 (GRCm39) |
I9V |
probably benign |
Het |
| Svil |
T |
C |
18: 5,117,059 (GRCm39) |
W2165R |
probably damaging |
Het |
| Tbl2 |
T |
A |
5: 135,186,454 (GRCm39) |
S184T |
possibly damaging |
Het |
| Tdrd7 |
A |
T |
4: 45,965,474 (GRCm39) |
T31S |
probably benign |
Het |
| Tmeff1 |
A |
G |
4: 48,614,960 (GRCm39) |
N139S |
possibly damaging |
Het |
| Trip13 |
T |
C |
13: 74,076,043 (GRCm39) |
R199G |
probably damaging |
Het |
| Tshb |
G |
T |
3: 102,684,831 (GRCm39) |
Y124* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,560,366 (GRCm39) |
E29345G |
probably damaging |
Het |
| Usp33 |
T |
A |
3: 152,085,223 (GRCm39) |
S620T |
probably benign |
Het |
| Vipr1 |
G |
A |
9: 121,497,540 (GRCm39) |
G353R |
probably damaging |
Het |
| Vipr1 |
G |
T |
9: 121,497,541 (GRCm39) |
G353V |
probably damaging |
Het |
| Vps13c |
A |
T |
9: 67,793,558 (GRCm39) |
D437V |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,062,192 (GRCm39) |
S240T |
probably damaging |
Het |
| Zfp772 |
A |
G |
7: 7,206,629 (GRCm39) |
I354T |
probably benign |
Het |
| Zfp959 |
T |
A |
17: 56,204,231 (GRCm39) |
Y86* |
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 |
|
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 |
|
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'- CCCTGCATGAAAACTCTAGTACAG -3'
(R):5'- CTGCTGCTTCCAAAAGACATCC -3'
Sequencing Primer
(F):5'- ATTTTATGTGGCAGGACACCCAG -3'
(R):5'- TGCTTCCAAAAGACATCCTATGGG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation