Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02500:Espl1'

295993

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

ESP1, SSE, separase, PRCE, Cerp, PRCE

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02500

Quality Score

Status

Chromosome

Chromosomal Location

102204701-102232792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102224235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 1262 (H1262R)

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: H1262R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: H1262R

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: H1262R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230617

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,856,338 (GRCm39)	I409N	possibly damaging	Het
Aoc3	T	A	11: 101,228,215 (GRCm39)	L674*	probably null	Het
Arhgef10	G	A	8: 15,011,238 (GRCm39)	E265K	probably damaging	Het
Ccn1	T	C	3: 145,354,455 (GRCm39)	K152R	probably damaging	Het
Cd53	A	G	3: 106,676,142 (GRCm39)	I75T	probably damaging	Het
Col26a1	A	T	5: 136,783,193 (GRCm39)	L235*	probably null	Het
Crem	G	T	18: 3,273,477 (GRCm39)	Q60K	probably damaging	Het
Cyp2j8	T	C	4: 96,358,887 (GRCm39)	D344G	probably damaging	Het
Dchs1	T	C	7: 105,405,013 (GRCm39)	T2510A	probably benign	Het
Dnajc4	T	C	19: 6,965,456 (GRCm39)	Q215R	possibly damaging	Het
Exoc2	G	T	13: 31,095,179 (GRCm39)	T239K	probably damaging	Het
Fzd6	A	T	15: 38,894,781 (GRCm39)	S316C	probably damaging	Het
Htra1	A	G	7: 130,586,704 (GRCm39)	K429R	probably benign	Het
Il1rapl2	C	T	X: 137,747,252 (GRCm39)	T647I	possibly damaging	Het
Kcnn3	T	A	3: 89,568,419 (GRCm39)		probably benign	Het
Kiz	G	A	2: 146,705,733 (GRCm39)	V98I	probably benign	Het
Klk1b24	A	T	7: 43,837,748 (GRCm39)		probably benign	Het
Lrrc30	T	A	17: 67,938,857 (GRCm39)	N241I	probably damaging	Het
Map2k4	A	G	11: 65,587,136 (GRCm39)	V288A	probably damaging	Het
Mefv	T	C	16: 3,531,441 (GRCm39)	H459R	probably damaging	Het
Mettl21a	G	T	1: 64,647,213 (GRCm39)	Q115K	probably benign	Het
Msra	A	G	14: 64,522,637 (GRCm39)		probably benign	Het
Myh8	G	A	11: 67,196,536 (GRCm39)	R1752H	probably benign	Het
Nrp1	T	C	8: 129,152,280 (GRCm39)	F163S	possibly damaging	Het
Ntng1	T	A	3: 110,042,646 (GRCm39)	Y60F	probably damaging	Het
Pax6	G	T	2: 105,523,115 (GRCm39)	R317L	probably benign	Het
Pcdh17	A	G	14: 84,770,909 (GRCm39)	E1129G	probably benign	Het
Phlpp2	C	T	8: 110,640,250 (GRCm39)	H472Y	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Prkce	A	G	17: 86,476,342 (GRCm39)	N108D	probably benign	Het
Prkdc	T	G	16: 15,532,146 (GRCm39)		probably null	Het
Ptprm	T	C	17: 67,227,043 (GRCm39)	Y702C	probably damaging	Het
Rbbp8nl	T	C	2: 179,921,122 (GRCm39)	T421A	possibly damaging	Het
Retnlg	A	T	16: 48,693,323 (GRCm39)	L33F	probably benign	Het
Slc16a7	T	A	10: 125,066,802 (GRCm39)	Y279F	probably damaging	Het
Slc8a1	T	C	17: 81,696,142 (GRCm39)	Y964C	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Sspo	C	A	6: 48,455,313 (GRCm39)	C3047*	probably null	Het
Tmprss11b	C	T	5: 86,815,182 (GRCm39)		probably null	Het
Txnrd1	T	G	10: 82,715,051 (GRCm39)	W98G	probably damaging	Het
Ulk1	A	T	5: 110,957,000 (GRCm39)	I66N	probably damaging	Het
Ush2a	A	G	1: 188,554,893 (GRCm39)	Y3557C	probably damaging	Het
Vmn2r57	T	A	7: 41,077,650 (GRCm39)	H172L	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfp592	T	A	7: 80,691,474 (GRCm39)	C1218S	probably benign	Het

Other mutations in Espl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00821:Espl1	APN	15	102,208,248 (GRCm39)	missense	probably damaging	1.00
IGL00839:Espl1	APN	15	102,228,982 (GRCm39)	unclassified	probably benign
IGL00919:Espl1	APN	15	102,207,064 (GRCm39)	missense	probably benign	0.03
IGL01125:Espl1	APN	15	102,231,373 (GRCm39)	missense	probably damaging	1.00
IGL01366:Espl1	APN	15	102,228,271 (GRCm39)	missense	probably benign	0.00
IGL01488:Espl1	APN	15	102,207,174 (GRCm39)	missense	probably benign
IGL01554:Espl1	APN	15	102,221,660 (GRCm39)	missense	probably damaging	1.00
IGL01810:Espl1	APN	15	102,206,640 (GRCm39)	missense	probably benign
IGL01959:Espl1	APN	15	102,214,097 (GRCm39)	splice site	probably benign
IGL02267:Espl1	APN	15	102,224,099 (GRCm39)	missense	probably benign	0.01
IGL02452:Espl1	APN	15	102,208,274 (GRCm39)	missense	probably damaging	1.00
IGL02469:Espl1	APN	15	102,222,460 (GRCm39)	missense	probably damaging	1.00
IGL02630:Espl1	APN	15	102,205,253 (GRCm39)	missense	probably benign	0.11
IGL02687:Espl1	APN	15	102,221,613 (GRCm39)	splice site	probably benign
IGL02868:Espl1	APN	15	102,222,425 (GRCm39)	nonsense	probably null
IGL02926:Espl1	APN	15	102,208,290 (GRCm39)	missense	probably damaging	0.99
R0019:Espl1	UTSW	15	102,214,754 (GRCm39)	missense	probably null	0.01
R0129:Espl1	UTSW	15	102,225,083 (GRCm39)	missense	probably benign	0.00
R0184:Espl1	UTSW	15	102,207,651 (GRCm39)	missense	probably benign	0.01
R0240:Espl1	UTSW	15	102,220,976 (GRCm39)	missense	probably benign	0.00
R0240:Espl1	UTSW	15	102,220,976 (GRCm39)	missense	probably benign	0.00
R0267:Espl1	UTSW	15	102,221,452 (GRCm39)	missense	possibly damaging	0.89
R0423:Espl1	UTSW	15	102,212,421 (GRCm39)	nonsense	probably null
R0587:Espl1	UTSW	15	102,212,382 (GRCm39)	splice site	probably benign
R0726:Espl1	UTSW	15	102,231,033 (GRCm39)	missense	probably benign
R1186:Espl1	UTSW	15	102,212,474 (GRCm39)	missense	probably benign	0.05
R1282:Espl1	UTSW	15	102,223,826 (GRCm39)	missense	probably benign	0.00
R1428:Espl1	UTSW	15	102,214,120 (GRCm39)	missense	probably benign	0.06
R1467:Espl1	UTSW	15	102,228,293 (GRCm39)	missense	probably benign	0.09
R1467:Espl1	UTSW	15	102,228,293 (GRCm39)	missense	probably benign	0.09
R1473:Espl1	UTSW	15	102,228,878 (GRCm39)	missense	possibly damaging	0.63
R1570:Espl1	UTSW	15	102,206,802 (GRCm39)	missense	probably damaging	0.98
R1639:Espl1	UTSW	15	102,229,149 (GRCm39)	missense	probably damaging	1.00
R1725:Espl1	UTSW	15	102,221,656 (GRCm39)	missense	probably benign	0.08
R1748:Espl1	UTSW	15	102,206,964 (GRCm39)	missense	possibly damaging	0.92
R1845:Espl1	UTSW	15	102,207,448 (GRCm39)	missense	probably benign
R1938:Espl1	UTSW	15	102,213,477 (GRCm39)	missense	probably benign	0.00
R1954:Espl1	UTSW	15	102,206,823 (GRCm39)	missense	probably damaging	1.00
R2009:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R2014:Espl1	UTSW	15	102,231,149 (GRCm39)	nonsense	probably null
R2067:Espl1	UTSW	15	102,207,525 (GRCm39)	missense	probably damaging	0.96
R2084:Espl1	UTSW	15	102,205,286 (GRCm39)	critical splice donor site	probably null
R2164:Espl1	UTSW	15	102,228,023 (GRCm39)	missense	probably damaging	1.00
R2204:Espl1	UTSW	15	102,214,340 (GRCm39)	missense	probably damaging	1.00
R2220:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R2237:Espl1	UTSW	15	102,224,004 (GRCm39)	missense	probably damaging	0.98
R2314:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3107:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3108:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3114:Espl1	UTSW	15	102,231,639 (GRCm39)	missense	possibly damaging	0.89
R3115:Espl1	UTSW	15	102,231,639 (GRCm39)	missense	possibly damaging	0.89
R3615:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3616:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3732:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3733:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3958:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3959:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R3960:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4062:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4063:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4064:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4165:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4166:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4349:Espl1	UTSW	15	102,228,039 (GRCm39)	missense	probably benign	0.26
R4373:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4376:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4377:Espl1	UTSW	15	102,221,424 (GRCm39)	missense	probably damaging	0.99
R4516:Espl1	UTSW	15	102,231,671 (GRCm39)	missense	probably benign	0.00
R4595:Espl1	UTSW	15	102,207,159 (GRCm39)	missense	probably benign	0.01
R4884:Espl1	UTSW	15	102,232,505 (GRCm39)	missense	possibly damaging	0.84
R4894:Espl1	UTSW	15	102,230,758 (GRCm39)	critical splice acceptor site	probably null
R4921:Espl1	UTSW	15	102,223,676 (GRCm39)	missense	probably damaging	0.98
R4931:Espl1	UTSW	15	102,214,165 (GRCm39)	missense	probably benign	0.02
R4936:Espl1	UTSW	15	102,213,372 (GRCm39)	missense	probably damaging	1.00
R5000:Espl1	UTSW	15	102,206,986 (GRCm39)	missense	probably damaging	1.00
R5220:Espl1	UTSW	15	102,207,012 (GRCm39)	missense	probably benign	0.03
R5329:Espl1	UTSW	15	102,220,953 (GRCm39)	missense	probably damaging	0.97
R5501:Espl1	UTSW	15	102,225,565 (GRCm39)	missense	possibly damaging	0.51
R5788:Espl1	UTSW	15	102,232,465 (GRCm39)	missense	probably damaging	1.00
R5848:Espl1	UTSW	15	102,231,011 (GRCm39)	missense	probably benign	0.03
R5906:Espl1	UTSW	15	102,205,286 (GRCm39)	critical splice donor site	probably null
R5978:Espl1	UTSW	15	102,224,209 (GRCm39)	missense	possibly damaging	0.66
R6111:Espl1	UTSW	15	102,208,323 (GRCm39)	missense	probably damaging	0.99
R6313:Espl1	UTSW	15	102,224,247 (GRCm39)	missense	probably benign	0.00
R6414:Espl1	UTSW	15	102,223,995 (GRCm39)	missense	probably damaging	0.96
R6484:Espl1	UTSW	15	102,231,935 (GRCm39)	missense	possibly damaging	0.65
R6784:Espl1	UTSW	15	102,207,660 (GRCm39)	missense	probably benign
R6928:Espl1	UTSW	15	102,207,342 (GRCm39)	missense	probably benign	0.28
R6995:Espl1	UTSW	15	102,212,535 (GRCm39)	missense	possibly damaging	0.94
R7053:Espl1	UTSW	15	102,225,328 (GRCm39)	critical splice donor site	probably null
R7062:Espl1	UTSW	15	102,207,331 (GRCm39)	missense	probably benign	0.00
R7135:Espl1	UTSW	15	102,227,959 (GRCm39)	nonsense	probably null
R7154:Espl1	UTSW	15	102,232,484 (GRCm39)	missense	probably damaging	1.00
R7164:Espl1	UTSW	15	102,221,638 (GRCm39)	missense	probably damaging	1.00
R7522:Espl1	UTSW	15	102,213,486 (GRCm39)	missense	probably damaging	1.00
R7848:Espl1	UTSW	15	102,224,961 (GRCm39)	missense	probably damaging	1.00
R7894:Espl1	UTSW	15	102,212,460 (GRCm39)	missense	probably damaging	1.00
R8275:Espl1	UTSW	15	102,211,188 (GRCm39)	splice site	probably benign
R8752:Espl1	UTSW	15	102,214,759 (GRCm39)	missense	probably damaging	1.00
R9160:Espl1	UTSW	15	102,206,953 (GRCm39)	missense	probably damaging	1.00
R9310:Espl1	UTSW	15	102,205,285 (GRCm39)	critical splice donor site	probably null
R9385:Espl1	UTSW	15	102,207,185 (GRCm39)	missense	probably damaging	0.99
R9532:Espl1	UTSW	15	102,228,260 (GRCm39)	nonsense	probably null
R9563:Espl1	UTSW	15	102,228,233 (GRCm39)	missense	possibly damaging	0.82
R9565:Espl1	UTSW	15	102,228,233 (GRCm39)	missense	possibly damaging	0.82
R9723:Espl1	UTSW	15	102,229,170 (GRCm39)	missense	probably benign	0.43
X0062:Espl1	UTSW	15	102,206,832 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16