Mutagenetix > Incidental Mutation

Incidental Mutation 'R1428:Espl1'

161414

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

039484-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1428 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

102296266-102324357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 102305685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 649 (Q649L)

Ref Sequence

ENSEMBL: ENSMUSP00000155304 (fasta)

Gene Model

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

AlphaFold

P60330

Predicted Effect

probably benign
Transcript: ENSMUST00000064924
AA Change: Q649L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: Q649L

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: ENSMUST00000229050
AA Change: Q649L

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230120

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 90.2%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,952,411 (GRCm38)	I249M	possibly damaging	Het
2410089E03Rik	T	A	15: 8,219,369 (GRCm38)	Y1801N	possibly damaging	Het
Abl1	G	T	2: 31,801,810 (GRCm38)	A1114S	probably damaging	Het
Acbd5	T	C	2: 23,099,721 (GRCm38)	V452A	probably damaging	Het
Armc12	A	G	17: 28,537,936 (GRCm38)	D225G	probably damaging	Het
Atad3a	T	A	4: 155,755,682 (GRCm38)	Q121H	probably damaging	Het
Bptf	T	A	11: 107,073,047 (GRCm38)	I1711F	probably damaging	Het
C2cd4c	A	T	10: 79,612,230 (GRCm38)	I361N	probably damaging	Het
Canx	A	G	11: 50,308,394 (GRCm38)		probably benign	Het
Ccdc127	C	T	13: 74,356,915 (GRCm38)	T194I	probably benign	Het
Cdc42ep3	T	C	17: 79,335,036 (GRCm38)	K152E	probably benign	Het
Cdh15	G	C	8: 122,857,495 (GRCm38)	E112Q	probably damaging	Het
Cnbd2	T	C	2: 156,339,284 (GRCm38)		probably null	Het
Crybg1	T	C	10: 43,975,078 (GRCm38)	N1599S	probably benign	Het
Cyc1	T	C	15: 76,344,348 (GRCm38)	V59A	probably benign	Het
Cyp2j11	T	C	4: 96,294,880 (GRCm38)	K484E	probably benign	Het
Ddx60	T	C	8: 61,958,159 (GRCm38)		probably benign	Het
Epg5	T	C	18: 77,962,427 (GRCm38)	S711P	probably damaging	Het
Eya1	G	A	1: 14,304,414 (GRCm38)		probably benign	Het
Fam214a	A	T	9: 75,006,321 (GRCm38)	T79S	probably benign	Het
Fam71e2	T	A	7: 4,757,688 (GRCm38)	H675L	possibly damaging	Het
Fat2	T	A	11: 55,296,087 (GRCm38)	Y1311F	probably damaging	Het
Gins4	T	C	8: 23,227,128 (GRCm38)	Y208C	probably damaging	Het
Gsk3b	T	C	16: 38,090,575 (GRCm38)	V17A	probably benign	Het
Gykl1	A	T	18: 52,694,761 (GRCm38)	K347I	probably benign	Het
Helz	T	A	11: 107,592,840 (GRCm38)		probably benign	Het
Hivep3	C	T	4: 120,096,575 (GRCm38)	T696I	possibly damaging	Het
Ifi27l2a	G	T	12: 103,442,834 (GRCm38)		probably benign	Het
Kif13a	A	G	13: 46,791,511 (GRCm38)		probably benign	Het
Kpna3	C	T	14: 61,383,220 (GRCm38)		probably benign	Het
Mmp15	C	G	8: 95,369,562 (GRCm38)	P327R	probably benign	Het
Mrc1	A	T	2: 14,315,263 (GRCm38)	T1003S	probably benign	Het
Mtss1	T	C	15: 58,947,390 (GRCm38)	D393G	probably benign	Het
Olfm4	T	A	14: 80,021,403 (GRCm38)	Y331N	probably damaging	Het
Olfr1255	G	C	2: 89,816,381 (GRCm38)	L12F	probably damaging	Het
Olfr517	T	A	7: 108,868,960 (GRCm38)	N65Y	probably damaging	Het
P2rx3	G	C	2: 85,024,950 (GRCm38)	T54R	possibly damaging	Het
Pacsin1	C	T	17: 27,705,963 (GRCm38)	T217I	probably damaging	Het
Phlpp1	A	G	1: 106,380,425 (GRCm38)		probably null	Het
Pknox1	T	C	17: 31,592,092 (GRCm38)		probably benign	Het
Plb1	A	G	5: 32,264,912 (GRCm38)	R70G	possibly damaging	Het
Rab3gap2	G	A	1: 185,247,904 (GRCm38)	A340T	probably damaging	Het
Rnf103	T	A	6: 71,508,999 (GRCm38)	W205R	probably damaging	Het
Rps6kc1	G	A	1: 190,798,726 (GRCm38)	T936M	probably damaging	Het
Spef2	T	C	15: 9,596,707 (GRCm38)		probably benign	Het
Sstr4	A	G	2: 148,396,359 (GRCm38)	S297G	probably benign	Het
Timm8a1	C	T	X: 134,538,123 (GRCm38)	E93K	probably benign	Het
Uck1	A	C	2: 32,258,355 (GRCm38)	Y150D	probably damaging	Het
Yipf4	A	G	17: 74,498,305 (GRCm38)		probably benign	Het

Other mutations in Espl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Espl1	APN	15	102,299,813 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- AGTGCTGTGCTACCACAACTTTACC -3'
(R):5'- GGCTGGACTCAGTTCCACATACTTC -3'

Sequencing Primer
(F):5'- gagaggtggggctggtg -3'
(R):5'- ACATACTTCCTGCATCTTGGC -3'

Posted On

2014-03-14