Mutagenetix > Incidental Mutation

Incidental Mutation 'R9565:Espl1'

721532

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

102296266-102324357 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 102319798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 1669 (I1669N)

Ref Sequence

ENSEMBL: ENSMUSP00000064465 (fasta)

Gene Model

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

AlphaFold

P60330

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064924
AA Change: I1669N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064465
Gene: ENSMUSG00000058290
AA Change: I1669N

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

possibly damaging
Transcript: ENSMUST00000229050
AA Change: I1669N

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000229942

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	T	C	6: 48,930,975	M303T	probably benign	Het
2310035C23Rik	T	C	1: 105,664,151	V15A	probably damaging	Het
4930402H24Rik	G	A	2: 130,806,791	T257M	unknown	Het
Aco2	G	A	15: 81,889,434	R58Q	probably null	Het
Actl11	A	T	9: 107,930,922	T815S	possibly damaging	Het
Actr5	A	G	2: 158,628,215	D255G	probably damaging	Het
Acvr1	T	C	2: 58,448,373	K446E	probably damaging	Het
Adam39	T	C	8: 40,824,718	Y49H	probably benign	Het
Adcy7	TGG	TG	8: 88,326,425		probably null	Het
Amn1	C	T	6: 149,188,605		probably benign	Het
Ankdd1a	C	T	9: 65,504,170	A352T	possibly damaging	Het
Arl4c	A	G	1: 88,701,412	C85R	probably damaging	Het
Asgr2	T	A	11: 70,105,484		probably null	Het
Bdkrb1	G	A	12: 105,604,819	V215I	probably benign	Het
Btn2a2	C	A	13: 23,478,678	K367N	possibly damaging	Het
Btnl10	T	A	11: 58,922,363	F273I	probably benign	Het
C7	T	A	15: 5,057,097		probably null	Het
Cap1	A	G	4: 122,864,712	V225A	probably benign	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,098,691		probably benign	Het
Ccdc18	A	G	5: 108,191,934	T782A	probably damaging	Het
Ccdc187	T	C	2: 26,293,686	S101G	possibly damaging	Het
Ccdc30	T	C	4: 119,393,624	N141S	possibly damaging	Het
Cdc42bpg	T	G	19: 6,320,666	L1263R	probably damaging	Het
Cdc42ep1	A	T	15: 78,849,582	H294L	probably benign	Het
Cdk12	A	G	11: 98,249,802	N1290D	unknown	Het
Ces1g	A	G	8: 93,335,164	V38A	probably benign	Het
Cntnap4	A	C	8: 112,856,350	Y1020S	probably benign	Het
Col7a1	T	C	9: 108,962,741	V1232A	unknown	Het
Ctdsp2	A	G	10: 126,996,171	D216G	probably damaging	Het
Cyp2j6	A	G	4: 96,526,008	I340T	probably damaging	Het
Cyp4f37	A	G	17: 32,625,231	D103G	possibly damaging	Het
Dlgap1	T	G	17: 70,657,463	N400K	probably benign	Het
Dnah1	C	A	14: 31,264,437	A3698S	probably damaging	Het
Dnah12	C	A	14: 26,875,324	R3547S	possibly damaging	Het
Dnah3	A	G	7: 120,010,891	V1774A	probably benign	Het
Drc7	A	G	8: 95,075,238	E709G	probably damaging	Het
Dsc1	T	A	18: 20,107,734	D178V	probably damaging	Het
Duox1	T	C	2: 122,320,722	Y293H	probably damaging	Het
Epas1	T	A	17: 86,805,239	D88E	probably damaging	Het
Epdr1	A	G	13: 19,594,651	F92L	possibly damaging	Het
Eri3	T	A	4: 117,564,816	V136E	probably benign	Het
Etv6	A	G	6: 134,248,709	N212S	probably benign	Het
Fam186b	A	T	15: 99,278,804	L735Q	probably damaging	Het
Fam186b	G	A	15: 99,279,735	A570V	probably damaging	Het
Fam208a	T	C	14: 27,479,809		probably null	Het
Fam212a	T	A	9: 107,984,289	Y276F	probably benign	Het
Fan1	A	G	7: 64,349,492	L874P	possibly damaging	Het
Fancm	A	G	12: 65,121,720	N1619S	probably damaging	Het
Fbln5	A	T	12: 101,768,463	N183K	probably damaging	Het
Fbn2	T	C	18: 58,095,226	H746R	probably benign	Het
Fbxw17	T	C	13: 50,425,569	W141R	probably damaging	Het
Fbxw25	T	A	9: 109,654,608	N179Y		Het
Gbe1	A	T	16: 70,401,776	Y119F	probably benign	Het
Gcnt7	T	A	2: 172,451,260	Y369F	probably damaging	Het
Gdf9	T	A	11: 53,436,684	S156T	probably damaging	Het
Gm11236	G	T	4: 73,638,953	V8F	probably damaging	Het
Gm14295	T	C	2: 176,807,369	V4A	probably benign	Het
Gm8369	A	C	19: 11,511,651	T101P	probably benign	Het
Herc3	A	G	6: 58,859,014	N280S	probably null	Het
Hipk2	T	A	6: 38,747,455	R447W	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hltf	G	A	3: 20,082,832		probably null	Het
Ik	C	A	18: 36,753,906	D397E	probably benign	Het
Ikbkap	G	T	4: 56,772,521	P867T	probably benign	Het
Kcnc1	G	A	7: 46,427,586	V271M	probably benign	Het
Kif21b	A	T	1: 136,149,352	I371F	probably damaging	Het
Klrc1	A	G	6: 129,678,783	F43S	probably damaging	Het
Krt8	A	G	15: 102,004,025	V72A	probably benign	Het
Krtap6-2	A	G	16: 89,419,834	S82P	unknown	Het
Lrrc15	G	A	16: 30,274,198	L108F	probably damaging	Het
Lvrn	T	G	18: 46,884,439	I612S	probably damaging	Het
Map3k3	T	A	11: 106,151,034	I413N	probably damaging	Het
Mark3	A	G	12: 111,604,526	I87V	probably damaging	Het
Mki67	GTT	GTTT	7: 135,707,504		probably null	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrgprb2	G	A	7: 48,552,926	T17M	possibly damaging	Het
Myh3	C	T	11: 67,092,361	R905*	probably null	Het
Myh8	T	C	11: 67,286,389	V427A	probably benign	Het
Myocd	T	C	11: 65,187,383	K529E	probably damaging	Het
Myom2	A	T	8: 15,108,399	K784*	probably null	Het
Olfr225	T	G	11: 59,613,513	I183S	probably damaging	Het
Olfr365	G	T	2: 37,201,563	M107I	probably benign	Het
Olfr820	T	C	10: 130,017,418	I19T	probably benign	Het
Pabpc4	T	C	4: 123,286,860	I125T	probably damaging	Het
Parp14	A	G	16: 35,857,405	I731T	probably benign	Het
Pde6c	T	A	19: 38,158,560		probably null	Het
Pias3	T	A	3: 96,703,551	C391S	possibly damaging	Het
Pknox2	A	T	9: 36,923,771	M134K	probably damaging	Het
Pot1b	A	G	17: 55,662,465	S568P	possibly damaging	Het
Ppp1r3a	T	A	6: 14,719,467	T483S	probably benign	Het
Rag1	A	T	2: 101,642,982	V605E	probably damaging	Het
Ros1	T	C	10: 52,067,074	D2048G	probably damaging	Het
Rp2	A	G	X: 20,377,542	D252G	probably benign	Het
Rpgrip1l	A	C	8: 91,304,888	H120Q	probably benign	Het
Rpl24	T	A	16: 55,970,146	S122T	probably benign	Het
Sec61b	A	G	4: 47,483,049	Y93C	probably damaging	Het
Sema6a	A	T	18: 47,249,527	L651Q	probably null	Het
Serpinb6a	T	A	13: 33,918,417	K275I	probably damaging	Het
Skiv2l	C	T	17: 34,844,782	A562T	probably benign	Het
Skor2	C	T	18: 76,858,681	H33Y	unknown	Het
Slc26a7	T	C	4: 14,519,496	N508S	probably benign	Het
Slc2a4	A	G	11: 69,946,347	F88L	probably damaging	Het
Slc8b1	A	G	5: 120,527,800	T399A	probably benign	Het
Slfn5	A	T	11: 82,956,873	M195L	possibly damaging	Het
Snx17	C	A	5: 31,197,744	Q368K	probably damaging	Het
Tbcb	A	T	7: 30,231,124		probably null	Het
Telo2	A	G	17: 25,115,225	I16T	probably benign	Het
Timm50	A	G	7: 28,307,644	F202S	possibly damaging	Het
Tle2	A	G	10: 81,581,733	D244G	probably benign	Het
Tlr4	G	A	4: 66,841,285	V772I	possibly damaging	Het
Tmem214	G	A	5: 30,869,699	W11*	probably null	Het
Top2b	A	C	14: 16,365,718	T14P	probably benign	Het
Trim44	T	C	2: 102,357,482	T309A	probably benign	Het
Tuba8	A	G	6: 121,223,104	N249S	probably benign	Het
Tubb4a	A	G	17: 57,081,027	V333A	probably benign	Het
Ugdh	C	A	5: 65,418,533	D328Y	possibly damaging	Het
Vmn1r189	A	G	13: 22,102,256	L137P	probably damaging	Het
Vmn1r208	A	G	13: 22,772,619	V236A	probably damaging	Het
Vmn2r29	A	T	7: 7,241,856	W340R	probably benign	Het
Vmn2r52	A	C	7: 10,159,549	D554E	probably benign	Het
Wdr36	C	T	18: 32,861,115	Q669*	probably null	Het
Wiz	G	T	17: 32,356,965	D812E	probably benign	Het
Zfp777	A	T	6: 48,044,646	V14D	possibly 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
R3114:Espl1	UTSW	15	102323204	missense	possibly damaging	0.89
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
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'- GAGATCCTTATGCCACTGCG -3'
(R):5'- TGGGCTACACACAAAGATCCAG -3'

Sequencing Primer
(F):5'- TTGCACCGACAGCTCAG -3'
(R):5'- GGCCAGGTAAACTAAGCAATATC -3'

Posted On

2022-08-09