Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Espl1'

241456

Institutional Source

Beutler Lab

Gene Symbol

Espl1

Ensembl Gene

ENSMUSG00000058290

Gene Name

extra spindle pole bodies 1, separase

Synonyms

ESP1, SSE, separase, PRCE, Cerp, PRCE

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2220 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

102204701-102232792 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 102221424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 944 (I944V)

Ref Sequence

ENSEMBL: ENSMUSP00000155304 (fasta)

Gene Model

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

AlphaFold

P60330

Predicted Effect

probably damaging
Transcript: ENSMUST00000064924
AA Change: I944V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: I944V

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: I944V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230116

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230120

Meta Mutation Damage Score

0.1426

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Ccdc83	G	A	7: 89,908,722 (GRCm39)	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,285,871 (GRCm39)	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Fer1l4	T	G	2: 155,873,684 (GRCm39)	Y1207S	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or13a19	T	C	7: 139,903,484 (GRCm39)	S291P	probably benign	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	probably null	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
IGL02500:Espl1	APN	15	102,224,235 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CTTAGAGGGAAAGAGCTCTGTGTTC -3'
(R):5'- TGCACCAGATTCTCACCTGC -3'

Sequencing Primer
(F):5'- GGAAAGAGCTCTGTGTTCAATTAG -3'
(R):5'- CTGCGGTGAATGAAAGACAGACATC -3'

Posted On

2014-10-15