Incidental Mutation 'R5291:Senp7'
| ID |
405169 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Senp7
|
| Ensembl Gene |
ENSMUSG00000052917 |
| Gene Name |
SUMO1/sentrin specific peptidase 7 |
| Synonyms |
2900036C23Rik, 6030449K19Rik, 2410152H17Rik, 2810413I22Rik |
| MMRRC Submission |
042874-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R5291 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
55869306-56010394 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 56006542 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 982
(Y982*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086779
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000089360]
[ENSMUST00000089362]
|
| AlphaFold |
Q8BUH8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000089360
AA Change: Y955*
|
| SMART Domains |
Protein: ENSMUSP00000086776
Gene: ENSMUSG00000052917
AA Change: Y955*
| 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 null
Transcript: ENSMUST00000089362
AA Change: Y982*
|
| SMART Domains |
Protein: ENSMUSP00000086779
Gene: ENSMUSG00000052917
AA Change: Y982*
| 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 |
noncoding transcript
Transcript: ENSMUST00000200714
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201391
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202108
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202159
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202272
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,823,394 (GRCm39) |
S328G |
probably damaging |
Het |
| Acot5 |
T |
G |
12: 84,120,293 (GRCm39) |
L216R |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,823,446 (GRCm39) |
L192P |
probably damaging |
Het |
| Atp6v1e1 |
C |
A |
6: 120,795,294 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
T |
C |
9: 22,540,293 (GRCm39) |
Y358H |
probably damaging |
Het |
| Bend7 |
G |
A |
2: 4,768,052 (GRCm39) |
R336Q |
probably damaging |
Het |
| Camk2a |
A |
G |
18: 61,090,236 (GRCm39) |
K192R |
probably damaging |
Het |
| Ceacam1 |
T |
A |
7: 25,171,256 (GRCm39) |
R223W |
probably damaging |
Het |
| Cntn6 |
T |
A |
6: 104,703,096 (GRCm39) |
F173I |
probably damaging |
Het |
| Cntrl |
A |
C |
2: 35,024,072 (GRCm39) |
I33L |
probably damaging |
Het |
| Crybg2 |
T |
C |
4: 133,800,738 (GRCm39) |
S633P |
probably benign |
Het |
| Cyp2j13 |
T |
C |
4: 95,956,566 (GRCm39) |
H181R |
probably damaging |
Het |
| Dlgap1 |
A |
G |
17: 71,025,205 (GRCm39) |
S542G |
probably benign |
Het |
| Dnm2 |
T |
G |
9: 21,390,203 (GRCm39) |
L402R |
probably damaging |
Het |
| Fndc3b |
C |
A |
3: 27,697,144 (GRCm39) |
V23L |
probably benign |
Het |
| Gata4 |
A |
C |
14: 63,478,048 (GRCm39) |
F184V |
probably damaging |
Het |
| Gcnt2 |
A |
G |
13: 41,072,268 (GRCm39) |
R304G |
probably damaging |
Het |
| Gm10563 |
TTTC |
TTTCCTTC |
4: 155,698,969 (GRCm39) |
|
probably benign |
Het |
| Gm26558 |
G |
A |
2: 70,491,873 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
G |
A |
10: 119,922,874 (GRCm39) |
V1107I |
probably benign |
Het |
| Herpud2 |
C |
T |
9: 25,036,256 (GRCm39) |
G135S |
probably benign |
Het |
| Lrp1 |
A |
G |
10: 127,429,747 (GRCm39) |
I441T |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,793,015 (GRCm39) |
D2553G |
probably damaging |
Het |
| Mkln1 |
T |
A |
6: 31,467,416 (GRCm39) |
N43K |
possibly damaging |
Het |
| Or4c12 |
A |
T |
2: 89,773,780 (GRCm39) |
Y226* |
probably null |
Het |
| Or5k17 |
T |
C |
16: 58,746,764 (GRCm39) |
T57A |
possibly damaging |
Het |
| Paxbp1 |
C |
T |
16: 90,841,240 (GRCm39) |
M1I |
probably null |
Het |
| Phip |
A |
G |
9: 82,827,936 (GRCm39) |
Y97H |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,058,211 (GRCm39) |
I3774F |
probably damaging |
Het |
| Pramel11 |
G |
T |
4: 143,622,237 (GRCm39) |
P373T |
probably damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,151 (GRCm39) |
|
probably benign |
Het |
| Prss12 |
T |
C |
3: 123,299,112 (GRCm39) |
L628P |
probably damaging |
Het |
| Ptpre |
G |
A |
7: 135,280,030 (GRCm39) |
V578I |
probably benign |
Het |
| Qsox2 |
A |
T |
2: 26,107,710 (GRCm39) |
L261H |
probably damaging |
Het |
| Rapgef2 |
A |
T |
3: 78,977,366 (GRCm39) |
V1327E |
possibly damaging |
Het |
| Rnf216 |
A |
G |
5: 143,075,967 (GRCm39) |
S306P |
probably benign |
Het |
| Rtel1 |
A |
G |
2: 180,993,888 (GRCm39) |
Q640R |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,815,023 (GRCm39) |
D175V |
probably benign |
Het |
| Scarf1 |
T |
C |
11: 75,414,900 (GRCm39) |
S525P |
probably damaging |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,223,446 (GRCm39) |
K1375E |
possibly damaging |
Het |
| Spats2 |
G |
T |
15: 99,076,422 (GRCm39) |
A167S |
probably benign |
Het |
| Spen |
C |
A |
4: 141,215,390 (GRCm39) |
A481S |
unknown |
Het |
| Spred3 |
T |
A |
7: 28,867,255 (GRCm39) |
H47L |
probably damaging |
Het |
| Srsf4 |
T |
A |
4: 131,613,617 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
A |
T |
14: 87,743,234 (GRCm39) |
H394L |
probably benign |
Het |
| Terf1 |
A |
G |
1: 15,889,310 (GRCm39) |
|
probably null |
Het |
| Txlnb |
A |
T |
10: 17,675,144 (GRCm39) |
D99V |
possibly damaging |
Het |
| Ugt1a7c |
A |
T |
1: 88,023,231 (GRCm39) |
N130I |
possibly damaging |
Het |
| Vmn2r50 |
T |
A |
7: 9,781,752 (GRCm39) |
D331V |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,789,139 (GRCm39) |
I744T |
probably damaging |
Het |
| Ythdc1 |
A |
G |
5: 86,983,547 (GRCm39) |
D664G |
probably damaging |
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 |
|
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'- TCACAGTGGCATTTATGAAGGCTC -3'
(R):5'- AGGTCACTGTGGTCTCCATG -3'
Sequencing Primer
(F):5'- CCTTTGTAGAAAGTGTTGCTGAC -3'
(R):5'- GGTCACTGTGGTCTCCATGTCTTC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation