Incidental Mutation 'R3114:Espl1'
| ID |
263949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Espl1
|
| Ensembl Gene |
ENSMUSG00000058290 |
| Gene Name |
extra spindle pole bodies 1, separase |
| Synonyms |
SSE, ESP1, PRCE, Cerp, PRCE, separase |
| MMRRC Submission |
040587-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3114 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
102296266-102324357 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102323204 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 1945
(F1945Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001335]
[ENSMUST00000062492]
[ENSMUST00000064924]
[ENSMUST00000165671]
[ENSMUST00000165717]
[ENSMUST00000166658]
[ENSMUST00000169637]
[ENSMUST00000170627]
[ENSMUST00000229050]
|
| AlphaFold |
P60330 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001335
|
| SMART Domains |
Protein: ENSMUSP00000001335
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
12 |
58 |
4e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000062492
|
| SMART Domains |
Protein: ENSMUSP00000126970
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
1 |
75 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064924
AA Change: F1945Y
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: F1945Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
236 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
433 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
785 |
794 |
N/A |
INTRINSIC |
|
low complexity region
|
907 |
918 |
N/A |
INTRINSIC |
|
low complexity region
|
1312 |
1317 |
N/A |
INTRINSIC |
|
low complexity region
|
1565 |
1579 |
N/A |
INTRINSIC |
|
low complexity region
|
1625 |
1636 |
N/A |
INTRINSIC |
|
Pfam:Peptidase_C50
|
1716 |
2065 |
4.2e-93 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165671
|
| SMART Domains |
Protein: ENSMUSP00000128526
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
1 |
75 |
2.2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165717
|
| SMART Domains |
Protein: ENSMUSP00000132441
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
1 |
72 |
1.4e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166658
|
| SMART Domains |
Protein: ENSMUSP00000129178
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
22 |
143 |
8.6e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168805
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169637
|
| SMART Domains |
Protein: ENSMUSP00000128263
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
1 |
58 |
3.4e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170627
|
| SMART Domains |
Protein: ENSMUSP00000131245
Gene: ENSMUSG00000001289
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Prefoldin
|
7 |
99 |
4.6e-22 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000229050
AA Change: F1945Y
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000229942
AA Change: F79Y
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230222
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231207
|
| Meta Mutation Damage Score |
0.4196 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous null mice display embryonic lethality before somite formation. Conditional null mice display abnormal mitosis during liver regeneration. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atf7 |
C |
T |
15: 102,534,423 |
S417N |
probably benign |
Het |
| Cdt1 |
C |
T |
8: 122,570,482 |
Q305* |
probably null |
Het |
| Cfap65 |
T |
A |
1: 74,927,132 |
K345N |
probably damaging |
Het |
| Chrna3 |
C |
T |
9: 55,016,050 |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 95,744,278 |
E1314G |
possibly damaging |
Het |
| Col11a2 |
T |
G |
17: 34,046,468 |
V276G |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,833,568 |
S4346G |
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,696,565 |
|
probably null |
Het |
| Fzd5 |
A |
G |
1: 64,735,580 |
F341L |
probably benign |
Het |
| Gm1587 |
T |
G |
14: 77,798,832 |
E11D |
unknown |
Het |
| Hist1h3c |
C |
A |
13: 23,745,307 |
R64L |
probably benign |
Het |
| Ighv5-1 |
A |
G |
12: 113,574,224 |
|
probably benign |
Het |
| Klhl3 |
A |
G |
13: 58,051,027 |
|
probably null |
Het |
| Klhl33 |
A |
T |
14: 50,891,515 |
D752E |
possibly damaging |
Het |
| Krt24 |
T |
A |
11: 99,282,436 |
T298S |
possibly damaging |
Het |
| March1 |
A |
C |
8: 66,387,381 |
H272P |
probably benign |
Het |
| Mei1 |
C |
T |
15: 82,124,959 |
A835V |
probably benign |
Het |
| Mier3 |
T |
A |
13: 111,706,648 |
I178N |
probably damaging |
Het |
| Mlxipl |
A |
G |
5: 135,133,662 |
|
probably benign |
Het |
| Mob3a |
A |
T |
10: 80,691,302 |
V63E |
probably damaging |
Het |
| Nos3 |
C |
T |
5: 24,372,631 |
|
probably benign |
Het |
| Olfr1239 |
T |
A |
2: 89,418,413 |
|
probably null |
Het |
| Pcdha11 |
T |
A |
18: 37,011,807 |
I317K |
probably damaging |
Het |
| Pcdha4 |
T |
C |
18: 36,953,550 |
V262A |
probably benign |
Het |
| Pde4d |
T |
A |
13: 109,948,258 |
M519K |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,618,985 |
S89P |
probably damaging |
Het |
| Ptar1 |
T |
A |
19: 23,718,095 |
C309S |
probably benign |
Het |
| Rint1 |
A |
G |
5: 23,819,420 |
N682S |
probably benign |
Het |
| Rnmt |
A |
G |
18: 68,314,008 |
E321G |
probably benign |
Het |
| Serpinb8 |
A |
G |
1: 107,607,293 |
I365V |
probably benign |
Het |
| Sik1 |
T |
C |
17: 31,848,132 |
T505A |
probably benign |
Het |
| Slfn10-ps |
T |
A |
11: 83,029,129 |
|
noncoding transcript |
Het |
| Sspn |
A |
T |
6: 145,934,369 |
I66F |
possibly damaging |
Het |
| Tepp |
T |
C |
8: 95,313,181 |
|
probably null |
Het |
| Tldc1 |
G |
A |
8: 119,768,317 |
A234V |
probably benign |
Het |
| Tsc22d1 |
T |
C |
14: 76,417,337 |
S337P |
probably damaging |
Het |
| Wdfy4 |
A |
G |
14: 33,089,903 |
S1715P |
probably damaging |
Het |
|
| Other mutations in Espl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00821:Espl1
|
APN |
15 |
102299813 |
missense |
probably damaging |
1.00 |
|
IGL00839:Espl1
|
APN |
15 |
102320547 |
unclassified |
probably benign |
|
|
IGL00919:Espl1
|
APN |
15 |
102298629 |
missense |
probably benign |
0.03 |
|
IGL01125:Espl1
|
APN |
15 |
102322938 |
missense |
probably damaging |
1.00 |
|
IGL01366:Espl1
|
APN |
15 |
102319836 |
missense |
probably benign |
0.00 |
|
IGL01488:Espl1
|
APN |
15 |
102298739 |
missense |
probably benign |
|
|
IGL01554:Espl1
|
APN |
15 |
102313225 |
missense |
probably damaging |
1.00 |
|
IGL01810:Espl1
|
APN |
15 |
102298205 |
missense |
probably benign |
|
|
IGL01959:Espl1
|
APN |
15 |
102305662 |
splice site |
probably benign |
|
|
IGL02267:Espl1
|
APN |
15 |
102315664 |
missense |
probably benign |
0.01 |
|
IGL02452:Espl1
|
APN |
15 |
102299839 |
missense |
probably damaging |
1.00 |
|
IGL02469:Espl1
|
APN |
15 |
102314025 |
missense |
probably damaging |
1.00 |
|
IGL02500:Espl1
|
APN |
15 |
102315800 |
missense |
probably benign |
|
|
IGL02630:Espl1
|
APN |
15 |
102296818 |
missense |
probably benign |
0.11 |
|
IGL02687:Espl1
|
APN |
15 |
102313178 |
splice site |
probably benign |
|
|
IGL02868:Espl1
|
APN |
15 |
102313990 |
nonsense |
probably null |
|
|
IGL02926:Espl1
|
APN |
15 |
102299855 |
missense |
probably damaging |
0.99 |
|
R0019:Espl1
|
UTSW |
15 |
102306319 |
missense |
probably null |
0.01 |
|
R0129:Espl1
|
UTSW |
15 |
102316648 |
missense |
probably benign |
0.00 |
|
R0184:Espl1
|
UTSW |
15 |
102299216 |
missense |
probably benign |
0.01 |
|
R0240:Espl1
|
UTSW |
15 |
102312541 |
missense |
probably benign |
0.00 |
|
R0240:Espl1
|
UTSW |
15 |
102312541 |
missense |
probably benign |
0.00 |
|
R0267:Espl1
|
UTSW |
15 |
102313017 |
missense |
possibly damaging |
0.89 |
|
R0423:Espl1
|
UTSW |
15 |
102303986 |
nonsense |
probably null |
|
|
R0587:Espl1
|
UTSW |
15 |
102303947 |
splice site |
probably benign |
|
|
R0726:Espl1
|
UTSW |
15 |
102322598 |
missense |
probably benign |
|
|
R1186:Espl1
|
UTSW |
15 |
102304039 |
missense |
probably benign |
0.05 |
|
R1282:Espl1
|
UTSW |
15 |
102315391 |
missense |
probably benign |
0.00 |
|
R1428:Espl1
|
UTSW |
15 |
102305685 |
missense |
probably benign |
0.06 |
|
R1467:Espl1
|
UTSW |
15 |
102319858 |
missense |
probably benign |
0.09 |
|
R1467:Espl1
|
UTSW |
15 |
102319858 |
missense |
probably benign |
0.09 |
|
R1473:Espl1
|
UTSW |
15 |
102320443 |
missense |
possibly damaging |
0.63 |
|
R1570:Espl1
|
UTSW |
15 |
102298367 |
missense |
probably damaging |
0.98 |
|
R1639:Espl1
|
UTSW |
15 |
102320714 |
missense |
probably damaging |
1.00 |
|
R1725:Espl1
|
UTSW |
15 |
102313221 |
missense |
probably benign |
0.08 |
|
R1748:Espl1
|
UTSW |
15 |
102298529 |
missense |
possibly damaging |
0.92 |
|
R1845:Espl1
|
UTSW |
15 |
102299013 |
missense |
probably benign |
|
|
R1938:Espl1
|
UTSW |
15 |
102305042 |
missense |
probably benign |
0.00 |
|
R1954:Espl1
|
UTSW |
15 |
102298388 |
missense |
probably damaging |
1.00 |
|
R2009:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R2014:Espl1
|
UTSW |
15 |
102322714 |
nonsense |
probably null |
|
|
R2067:Espl1
|
UTSW |
15 |
102299090 |
missense |
probably damaging |
0.96 |
|
R2084:Espl1
|
UTSW |
15 |
102296851 |
critical splice donor site |
probably null |
|
|
R2164:Espl1
|
UTSW |
15 |
102319588 |
missense |
probably damaging |
1.00 |
|
R2204:Espl1
|
UTSW |
15 |
102305905 |
missense |
probably damaging |
1.00 |
|
R2220:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R2237:Espl1
|
UTSW |
15 |
102315569 |
missense |
probably damaging |
0.98 |
|
R2314:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3107:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3108:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3115:Espl1
|
UTSW |
15 |
102323204 |
missense |
possibly damaging |
0.89 |
|
R3615:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3616:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3732:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3732:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3733:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3958:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3959:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R3960:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4062:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4063:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4064:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4165:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4166:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4349:Espl1
|
UTSW |
15 |
102319604 |
missense |
probably benign |
0.26 |
|
R4373:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4376:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4377:Espl1
|
UTSW |
15 |
102312989 |
missense |
probably damaging |
0.99 |
|
R4516:Espl1
|
UTSW |
15 |
102323236 |
missense |
probably benign |
0.00 |
|
R4595:Espl1
|
UTSW |
15 |
102298724 |
missense |
probably benign |
0.01 |
|
R4884:Espl1
|
UTSW |
15 |
102324070 |
missense |
possibly damaging |
0.84 |
|
R4894:Espl1
|
UTSW |
15 |
102322323 |
critical splice acceptor site |
probably null |
|
|
R4921:Espl1
|
UTSW |
15 |
102315241 |
missense |
probably damaging |
0.98 |
|
R4931:Espl1
|
UTSW |
15 |
102305730 |
missense |
probably benign |
0.02 |
|
R4936:Espl1
|
UTSW |
15 |
102304937 |
missense |
probably damaging |
1.00 |
|
R5000:Espl1
|
UTSW |
15 |
102298551 |
missense |
probably damaging |
1.00 |
|
R5220:Espl1
|
UTSW |
15 |
102298577 |
missense |
probably benign |
0.03 |
|
R5329:Espl1
|
UTSW |
15 |
102312518 |
missense |
probably damaging |
0.97 |
|
R5501:Espl1
|
UTSW |
15 |
102317130 |
missense |
possibly damaging |
0.51 |
|
R5788:Espl1
|
UTSW |
15 |
102324030 |
missense |
probably damaging |
1.00 |
|
R5848:Espl1
|
UTSW |
15 |
102322576 |
missense |
probably benign |
0.03 |
|
R5906:Espl1
|
UTSW |
15 |
102296851 |
critical splice donor site |
probably null |
|
|
R5978:Espl1
|
UTSW |
15 |
102315774 |
missense |
possibly damaging |
0.66 |
|
R6111:Espl1
|
UTSW |
15 |
102299888 |
missense |
probably damaging |
0.99 |
|
R6313:Espl1
|
UTSW |
15 |
102315812 |
missense |
probably benign |
0.00 |
|
R6414:Espl1
|
UTSW |
15 |
102315560 |
missense |
probably damaging |
0.96 |
|
R6484:Espl1
|
UTSW |
15 |
102323500 |
missense |
possibly damaging |
0.65 |
|
R6784:Espl1
|
UTSW |
15 |
102299225 |
missense |
probably benign |
|
|
R6928:Espl1
|
UTSW |
15 |
102298907 |
missense |
probably benign |
0.28 |
|
R6995:Espl1
|
UTSW |
15 |
102304100 |
missense |
possibly damaging |
0.94 |
|
R7053:Espl1
|
UTSW |
15 |
102316893 |
critical splice donor site |
probably null |
|
|
R7062:Espl1
|
UTSW |
15 |
102298896 |
missense |
probably benign |
0.00 |
|
R7135:Espl1
|
UTSW |
15 |
102319524 |
nonsense |
probably null |
|
|
R7154:Espl1
|
UTSW |
15 |
102324049 |
missense |
probably damaging |
1.00 |
|
R7164:Espl1
|
UTSW |
15 |
102313203 |
missense |
probably damaging |
1.00 |
|
R7522:Espl1
|
UTSW |
15 |
102305051 |
missense |
probably damaging |
1.00 |
|
R7848:Espl1
|
UTSW |
15 |
102316526 |
missense |
probably damaging |
1.00 |
|
R7894:Espl1
|
UTSW |
15 |
102304025 |
missense |
probably damaging |
1.00 |
|
R8275:Espl1
|
UTSW |
15 |
102302753 |
splice site |
probably benign |
|
|
R8752:Espl1
|
UTSW |
15 |
102306324 |
missense |
probably damaging |
1.00 |
|
R9160:Espl1
|
UTSW |
15 |
102298518 |
missense |
probably damaging |
1.00 |
|
R9310:Espl1
|
UTSW |
15 |
102296850 |
critical splice donor site |
probably null |
|
|
R9385:Espl1
|
UTSW |
15 |
102298750 |
missense |
probably damaging |
0.99 |
|
R9532:Espl1
|
UTSW |
15 |
102319825 |
nonsense |
probably null |
|
|
R9563:Espl1
|
UTSW |
15 |
102319798 |
missense |
possibly damaging |
0.82 |
|
R9565:Espl1
|
UTSW |
15 |
102319798 |
missense |
possibly damaging |
0.82 |
|
R9723:Espl1
|
UTSW |
15 |
102320735 |
missense |
probably benign |
0.43 |
|
X0062:Espl1
|
UTSW |
15 |
102298397 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTAAAGAGGTGGGCAAC -3'
(R):5'- AGCAGCCACTGATTCTGGAG -3'
Sequencing Primer
(F):5'- ACTGGCTGTTGGGTAAAGCCTAAG -3'
(R):5'- CTGATTCTGGAGCAAAAGCACTCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation