Incidental Mutation 'R5645:Senp7'
| ID |
441105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
043293-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.296)
|
| Stock # |
R5645 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55993571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 724
(N724K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000089360
AA Change: N724K
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: N724K
| 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: N751K
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: N751K
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,403 (GRCm39) |
I169V |
probably damaging |
Het |
| 4930503B20Rik |
C |
T |
3: 146,356,264 (GRCm39) |
E215K |
probably damaging |
Het |
| Abca6 |
T |
C |
11: 110,141,234 (GRCm39) |
E29G |
probably damaging |
Het |
| Acsm1 |
A |
G |
7: 119,239,920 (GRCm39) |
H288R |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,277,506 (GRCm39) |
T707A |
possibly damaging |
Het |
| Adcy2 |
C |
A |
13: 68,877,321 (GRCm39) |
|
probably null |
Het |
| Agbl4 |
A |
T |
4: 111,514,527 (GRCm39) |
I513F |
possibly damaging |
Het |
| Ak5 |
A |
T |
3: 152,361,670 (GRCm39) |
M84K |
possibly damaging |
Het |
| Akap1 |
T |
C |
11: 88,736,453 (GRCm39) |
T103A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,100,590 (GRCm39) |
T2751A |
probably benign |
Het |
| Amer3 |
A |
T |
1: 34,627,462 (GRCm39) |
H567L |
possibly damaging |
Het |
| Ano6 |
A |
G |
15: 95,818,232 (GRCm39) |
Y325C |
probably benign |
Het |
| Apba2 |
A |
G |
7: 64,345,554 (GRCm39) |
E248G |
possibly damaging |
Het |
| Asap2 |
T |
A |
12: 21,315,983 (GRCm39) |
V967E |
probably damaging |
Het |
| Atosa |
T |
A |
9: 74,932,961 (GRCm39) |
V976E |
probably damaging |
Het |
| Boc |
A |
G |
16: 44,320,024 (GRCm39) |
V320A |
probably damaging |
Het |
| Car13 |
T |
A |
3: 14,710,180 (GRCm39) |
Y41N |
possibly damaging |
Het |
| Ccdc162 |
T |
C |
10: 41,428,352 (GRCm39) |
T1976A |
probably benign |
Het |
| Cep295 |
C |
A |
9: 15,246,404 (GRCm39) |
S684I |
possibly damaging |
Het |
| Cep295 |
A |
T |
9: 15,244,090 (GRCm39) |
H1455Q |
probably damaging |
Het |
| Cr2 |
G |
T |
1: 194,836,581 (GRCm39) |
H861N |
probably damaging |
Het |
| Cul5 |
T |
C |
9: 53,534,243 (GRCm39) |
I630V |
probably benign |
Het |
| Cyp2c37 |
G |
A |
19: 39,982,596 (GRCm39) |
V145I |
probably benign |
Het |
| Dnmt1 |
G |
A |
9: 20,833,443 (GRCm39) |
T500M |
probably damaging |
Het |
| Elp1 |
T |
C |
4: 56,776,920 (GRCm39) |
T626A |
possibly damaging |
Het |
| Fam161a |
T |
A |
11: 22,965,725 (GRCm39) |
I6N |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,304,332 (GRCm39) |
V574A |
probably damaging |
Het |
| Glb1l3 |
G |
T |
9: 26,736,122 (GRCm39) |
L553I |
probably benign |
Het |
| Gm1123 |
T |
C |
9: 98,896,244 (GRCm39) |
D212G |
probably benign |
Het |
| Grin2a |
T |
A |
16: 9,810,090 (GRCm39) |
D103V |
probably damaging |
Het |
| Heg1 |
A |
G |
16: 33,527,333 (GRCm39) |
I98V |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,310,824 (GRCm39) |
T3356N |
possibly damaging |
Het |
| Hpf1 |
T |
G |
8: 61,349,834 (GRCm39) |
I154S |
possibly damaging |
Het |
| Ifnar2 |
A |
G |
16: 91,201,115 (GRCm39) |
D452G |
possibly damaging |
Het |
| Iqcc |
A |
T |
4: 129,510,320 (GRCm39) |
H398Q |
possibly damaging |
Het |
| Iqgap3 |
T |
C |
3: 88,025,006 (GRCm39) |
I669T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,020,074 (GRCm39) |
T859A |
probably damaging |
Het |
| Kansl1l |
T |
C |
1: 66,840,503 (GRCm39) |
M266V |
probably benign |
Het |
| Kbtbd3 |
A |
G |
9: 4,331,426 (GRCm39) |
D600G |
possibly damaging |
Het |
| Klf13 |
G |
A |
7: 63,541,348 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,278 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,109,943 (GRCm39) |
D2188G |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,148,273 (GRCm39) |
T682A |
probably damaging |
Het |
| Mab21l4 |
T |
C |
1: 93,080,668 (GRCm39) |
T413A |
probably damaging |
Het |
| Mslnl |
G |
T |
17: 25,956,816 (GRCm39) |
G34V |
possibly damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,426,044 (GRCm39) |
S2360R |
probably damaging |
Het |
| Mycbp2 |
C |
A |
14: 103,426,051 (GRCm39) |
|
probably null |
Het |
| Nkx2-2 |
T |
C |
2: 147,026,319 (GRCm39) |
T140A |
probably damaging |
Het |
| Or11h6 |
T |
C |
14: 50,880,524 (GRCm39) |
V262A |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,049 (GRCm39) |
V199E |
possibly damaging |
Het |
| Oser1 |
C |
T |
2: 163,248,965 (GRCm39) |
R79H |
probably damaging |
Het |
| Pfas |
A |
G |
11: 68,881,958 (GRCm39) |
V909A |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,396,388 (GRCm39) |
E1970G |
probably benign |
Het |
| Prph2 |
G |
T |
17: 47,221,593 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,425,758 (GRCm39) |
A1288S |
probably benign |
Het |
| Scart2 |
G |
A |
7: 139,828,853 (GRCm39) |
V171I |
possibly damaging |
Het |
| Sdha |
A |
G |
13: 74,471,958 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
G |
2: 26,329,907 (GRCm39) |
T703P |
probably benign |
Het |
| Skint1 |
A |
G |
4: 111,882,699 (GRCm39) |
I248V |
probably benign |
Het |
| Slc9a5 |
T |
C |
8: 106,083,645 (GRCm39) |
V395A |
probably benign |
Het |
| Slco1a4 |
T |
C |
6: 141,780,385 (GRCm39) |
N135S |
possibly damaging |
Het |
| Sncaip |
A |
G |
18: 53,028,028 (GRCm39) |
I412M |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,225,781 (GRCm39) |
D841V |
possibly damaging |
Het |
| Tekt1 |
A |
T |
11: 72,242,663 (GRCm39) |
H281Q |
probably benign |
Het |
| Tex46 |
G |
T |
4: 136,340,228 (GRCm39) |
M104I |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,114,454 (GRCm39) |
|
probably null |
Het |
| Treh |
A |
G |
9: 44,593,975 (GRCm39) |
Y154C |
probably damaging |
Het |
| Trim80 |
T |
A |
11: 115,337,611 (GRCm39) |
L428Q |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,830,968 (GRCm39) |
K1278E |
probably damaging |
Het |
| Tut4 |
G |
A |
4: 108,414,570 (GRCm39) |
R49H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,325,024 (GRCm39) |
M990T |
possibly damaging |
Het |
| Vps9d1 |
A |
G |
8: 123,974,487 (GRCm39) |
S267P |
probably benign |
Het |
| Ywhae |
T |
C |
11: 75,647,750 (GRCm39) |
M160T |
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 |
|
|
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'- TGGAGCATCAGGAAATCTTTGC -3'
(R):5'- CACTGTCTGAATCTGAAATTTTGCC -3'
Sequencing Primer
(F):5'- GAGCATCAGGAAATCTTTGCTTTATG -3'
(R):5'- AGCTAAAAGGCTGAGTGCTTTCC -3'
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| Posted On |
2016-11-08 |
Incidental Mutation