Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00821:Espl1'

13454

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

SSE, ESP1, PRCE, Cerp, PRCE, separase

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00821

Quality Score

Status

Chromosome

Chromosomal Location

102296266-102324357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102299813 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 418 (L418P)

Ref Sequence

ENSEMBL: ENSMUSP00000155304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064924] [ENSMUST00000229050] [ENSMUST00000230212] [ENSMUST00000231104]

AlphaFold

P60330

Predicted Effect

probably damaging
Transcript: ENSMUST00000064924
AA Change: L418P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: L418P

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 damaging
Transcript: ENSMUST00000229050
AA Change: L418P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229580

Predicted Effect

probably benign
Transcript: ENSMUST00000230212

Predicted Effect

probably benign
Transcript: ENSMUST00000231104

Coding Region Coverage

Validation Efficiency

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cad	T	C	5: 31,061,484 (GRCm38)	Y550H	probably damaging	Het
Cep350	A	G	1: 155,862,204 (GRCm38)	V2631A	probably benign	Het
Cpa2	A	G	6: 30,564,412 (GRCm38)	D414G	probably benign	Het
Dhx38	T	C	8: 109,555,654 (GRCm38)	I714V	probably benign	Het
Dis3	T	C	14: 99,091,486 (GRCm38)	I277V	probably benign	Het
F7	A	G	8: 13,028,802 (GRCm38)	T78A	probably benign	Het
Faim	G	A	9: 98,992,165 (GRCm38)	G15R	probably damaging	Het
Golga3	C	A	5: 110,204,933 (GRCm38)	H897N	possibly damaging	Het
Itgae	T	A	11: 73,123,148 (GRCm38)	D724E	probably damaging	Het
Klb	A	T	5: 65,372,149 (GRCm38)	Y340F	probably damaging	Het
Kmt2b	A	T	7: 30,570,613 (GRCm38)	L2436Q	probably damaging	Het
Krt17	A	G	11: 100,260,631 (GRCm38)	L112P	probably damaging	Het
Lrp2	T	A	2: 69,459,516 (GRCm38)	N3660Y	probably damaging	Het
Mia2	T	C	12: 59,170,320 (GRCm38)		probably null	Het
Myh2	C	T	11: 67,197,397 (GRCm38)		probably benign	Het
Nr2f1	A	G	13: 78,198,114 (GRCm38)		probably benign	Het
Odf2l	T	A	3: 145,150,987 (GRCm38)	S568T	probably damaging	Het
Parl	G	A	16: 20,298,208 (GRCm38)	P80S	probably damaging	Het
Ppfibp2	T	G	7: 107,729,876 (GRCm38)	F531V	probably damaging	Het
Prpf40b	A	G	15: 99,316,501 (GRCm38)	E854G	probably benign	Het
Rere	A	G	4: 150,619,463 (GRCm38)	K1551E	probably damaging	Het
Sacm1l	A	T	9: 123,570,549 (GRCm38)	Q302L	possibly damaging	Het
Slc41a2	A	G	10: 83,313,530 (GRCm38)		probably benign	Het
Smchd1	T	C	17: 71,398,623 (GRCm38)	T994A	possibly damaging	Het
Ubxn7	G	A	16: 32,369,398 (GRCm38)	D125N	probably damaging	Het
Zfp667	A	G	7: 6,305,397 (GRCm38)	N355D	possibly damaging	Het
Zfp839	T	C	12: 110,865,007 (GRCm38)		probably null	Het
Zfpm2	T	A	15: 41,103,387 (GRCm38)	N957K	probably damaging	Het

Other mutations in Espl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Espl1	APN	15	102,320,547 (GRCm38)	unclassified	probably benign
IGL00919:Espl1	APN	15	102,298,629 (GRCm38)	missense	probably benign	0.03
IGL01125:Espl1	APN	15	102,322,938 (GRCm38)	missense	probably damaging	1.00
IGL01366:Espl1	APN	15	102,319,836 (GRCm38)	missense	probably benign	0.00
IGL01488:Espl1	APN	15	102,298,739 (GRCm38)	missense	probably benign
IGL01554:Espl1	APN	15	102,313,225 (GRCm38)	missense	probably damaging	1.00
IGL01810:Espl1	APN	15	102,298,205 (GRCm38)	missense	probably benign
IGL01959:Espl1	APN	15	102,305,662 (GRCm38)	splice site	probably benign
IGL02267:Espl1	APN	15	102,315,664 (GRCm38)	missense	probably benign	0.01
IGL02452:Espl1	APN	15	102,299,839 (GRCm38)	missense	probably damaging	1.00
IGL02469:Espl1	APN	15	102,314,025 (GRCm38)	missense	probably damaging	1.00
IGL02500:Espl1	APN	15	102,315,800 (GRCm38)	missense	probably benign
IGL02630:Espl1	APN	15	102,296,818 (GRCm38)	missense	probably benign	0.11
IGL02687:Espl1	APN	15	102,313,178 (GRCm38)	splice site	probably benign
IGL02868:Espl1	APN	15	102,313,990 (GRCm38)	nonsense	probably null
IGL02926:Espl1	APN	15	102,299,855 (GRCm38)	missense	probably damaging	0.99
R0019:Espl1	UTSW	15	102,306,319 (GRCm38)	missense	probably null	0.01
R0129:Espl1	UTSW	15	102,316,648 (GRCm38)	missense	probably benign	0.00
R0184:Espl1	UTSW	15	102,299,216 (GRCm38)	missense	probably benign	0.01
R0240:Espl1	UTSW	15	102,312,541 (GRCm38)	missense	probably benign	0.00
R0240:Espl1	UTSW	15	102,312,541 (GRCm38)	missense	probably benign	0.00
R0267:Espl1	UTSW	15	102,313,017 (GRCm38)	missense	possibly damaging	0.89
R0423:Espl1	UTSW	15	102,303,986 (GRCm38)	nonsense	probably null
R0587:Espl1	UTSW	15	102,303,947 (GRCm38)	splice site	probably benign
R0726:Espl1	UTSW	15	102,322,598 (GRCm38)	missense	probably benign
R1186:Espl1	UTSW	15	102,304,039 (GRCm38)	missense	probably benign	0.05
R1282:Espl1	UTSW	15	102,315,391 (GRCm38)	missense	probably benign	0.00
R1428:Espl1	UTSW	15	102,305,685 (GRCm38)	missense	probably benign	0.06
R1467:Espl1	UTSW	15	102,319,858 (GRCm38)	missense	probably benign	0.09
R1467:Espl1	UTSW	15	102,319,858 (GRCm38)	missense	probably benign	0.09
R1473:Espl1	UTSW	15	102,320,443 (GRCm38)	missense	possibly damaging	0.63
R1570:Espl1	UTSW	15	102,298,367 (GRCm38)	missense	probably damaging	0.98
R1639:Espl1	UTSW	15	102,320,714 (GRCm38)	missense	probably damaging	1.00
R1725:Espl1	UTSW	15	102,313,221 (GRCm38)	missense	probably benign	0.08
R1748:Espl1	UTSW	15	102,298,529 (GRCm38)	missense	possibly damaging	0.92
R1845:Espl1	UTSW	15	102,299,013 (GRCm38)	missense	probably benign
R1938:Espl1	UTSW	15	102,305,042 (GRCm38)	missense	probably benign	0.00
R1954:Espl1	UTSW	15	102,298,388 (GRCm38)	missense	probably damaging	1.00
R2009:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R2014:Espl1	UTSW	15	102,322,714 (GRCm38)	nonsense	probably null
R2067:Espl1	UTSW	15	102,299,090 (GRCm38)	missense	probably damaging	0.96
R2084:Espl1	UTSW	15	102,296,851 (GRCm38)	critical splice donor site	probably null
R2164:Espl1	UTSW	15	102,319,588 (GRCm38)	missense	probably damaging	1.00
R2204:Espl1	UTSW	15	102,305,905 (GRCm38)	missense	probably damaging	1.00
R2220:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R2237:Espl1	UTSW	15	102,315,569 (GRCm38)	missense	probably damaging	0.98
R2314:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3107:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3108:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3114:Espl1	UTSW	15	102,323,204 (GRCm38)	missense	possibly damaging	0.89
R3115:Espl1	UTSW	15	102,323,204 (GRCm38)	missense	possibly damaging	0.89
R3615:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3616:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3733:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3958:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3959:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R3960:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4062:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4063:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4064:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4165:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4166:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4349:Espl1	UTSW	15	102,319,604 (GRCm38)	missense	probably benign	0.26
R4373:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4376:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4377:Espl1	UTSW	15	102,312,989 (GRCm38)	missense	probably damaging	0.99
R4516:Espl1	UTSW	15	102,323,236 (GRCm38)	missense	probably benign	0.00
R4595:Espl1	UTSW	15	102,298,724 (GRCm38)	missense	probably benign	0.01
R4884:Espl1	UTSW	15	102,324,070 (GRCm38)	missense	possibly damaging	0.84
R4894:Espl1	UTSW	15	102,322,323 (GRCm38)	critical splice acceptor site	probably null
R4921:Espl1	UTSW	15	102,315,241 (GRCm38)	missense	probably damaging	0.98
R4931:Espl1	UTSW	15	102,305,730 (GRCm38)	missense	probably benign	0.02
R4936:Espl1	UTSW	15	102,304,937 (GRCm38)	missense	probably damaging	1.00
R5000:Espl1	UTSW	15	102,298,551 (GRCm38)	missense	probably damaging	1.00
R5220:Espl1	UTSW	15	102,298,577 (GRCm38)	missense	probably benign	0.03
R5329:Espl1	UTSW	15	102,312,518 (GRCm38)	missense	probably damaging	0.97
R5501:Espl1	UTSW	15	102,317,130 (GRCm38)	missense	possibly damaging	0.51
R5788:Espl1	UTSW	15	102,324,030 (GRCm38)	missense	probably damaging	1.00
R5848:Espl1	UTSW	15	102,322,576 (GRCm38)	missense	probably benign	0.03
R5906:Espl1	UTSW	15	102,296,851 (GRCm38)	critical splice donor site	probably null
R5978:Espl1	UTSW	15	102,315,774 (GRCm38)	missense	possibly damaging	0.66
R6111:Espl1	UTSW	15	102,299,888 (GRCm38)	missense	probably damaging	0.99
R6313:Espl1	UTSW	15	102,315,812 (GRCm38)	missense	probably benign	0.00
R6414:Espl1	UTSW	15	102,315,560 (GRCm38)	missense	probably damaging	0.96
R6484:Espl1	UTSW	15	102,323,500 (GRCm38)	missense	possibly damaging	0.65
R6784:Espl1	UTSW	15	102,299,225 (GRCm38)	missense	probably benign
R6928:Espl1	UTSW	15	102,298,907 (GRCm38)	missense	probably benign	0.28
R6995:Espl1	UTSW	15	102,304,100 (GRCm38)	missense	possibly damaging	0.94
R7053:Espl1	UTSW	15	102,316,893 (GRCm38)	critical splice donor site	probably null
R7062:Espl1	UTSW	15	102,298,896 (GRCm38)	missense	probably benign	0.00
R7135:Espl1	UTSW	15	102,319,524 (GRCm38)	nonsense	probably null
R7154:Espl1	UTSW	15	102,324,049 (GRCm38)	missense	probably damaging	1.00
R7164:Espl1	UTSW	15	102,313,203 (GRCm38)	missense	probably damaging	1.00
R7522:Espl1	UTSW	15	102,305,051 (GRCm38)	missense	probably damaging	1.00
R7848:Espl1	UTSW	15	102,316,526 (GRCm38)	missense	probably damaging	1.00
R7894:Espl1	UTSW	15	102,304,025 (GRCm38)	missense	probably damaging	1.00
R8275:Espl1	UTSW	15	102,302,753 (GRCm38)	splice site	probably benign
R8752:Espl1	UTSW	15	102,306,324 (GRCm38)	missense	probably damaging	1.00
R9160:Espl1	UTSW	15	102,298,518 (GRCm38)	missense	probably damaging	1.00
R9310:Espl1	UTSW	15	102,296,850 (GRCm38)	critical splice donor site	probably null
R9385:Espl1	UTSW	15	102,298,750 (GRCm38)	missense	probably damaging	0.99
R9532:Espl1	UTSW	15	102,319,825 (GRCm38)	nonsense	probably null
R9563:Espl1	UTSW	15	102,319,798 (GRCm38)	missense	possibly damaging	0.82
R9565:Espl1	UTSW	15	102,319,798 (GRCm38)	missense	possibly damaging	0.82
R9723:Espl1	UTSW	15	102,320,735 (GRCm38)	missense	probably benign	0.43
X0062:Espl1	UTSW	15	102,298,397 (GRCm38)	missense	probably damaging	1.00

Posted On

2012-12-06