Mutagenetix > Incidental Mutation

Incidental Mutation 'R4603:Cse1l'

345761

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1-like (S. cerevisiae)

Synonyms

Capts, Xpo2, 2610100P18Rik, Cas

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4603 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166944532 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 604 (V604A)

Ref Sequence

ENSEMBL: ENSMUSP00000126757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000049412] [ENSMUST00000109235] [ENSMUST00000109236] [ENSMUST00000109238] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000184390] [ENSMUST00000169290]

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: V917A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: V917A

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	526	9.2e-169	PFAM
Pfam:CAS_CSE1	527	962	1.1e-181	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049412

SMART Domains

Protein: ENSMUSP00000042626
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	199	265	5.54e-22	SMART
PDB:4DKK\|A	355	469	2e-69	PDB
Blast:DSRM	401	466	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109235

SMART Domains

Protein: ENSMUSP00000104858
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	199	265	5.54e-22	SMART
PDB:4DKK\|A	355	469	3e-69	PDB
Blast:DSRM	401	466	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109236

SMART Domains

Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	4e-21	BLAST
DSRM	97	162	9.49e-21	SMART
DSRM	197	263	5.54e-22	SMART
PDB:4DKK\|A	353	467	3e-69	PDB
Blast:DSRM	399	464	3e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109238

SMART Domains

Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	5e-21	BLAST
DSRM	97	168	4.04e-15	SMART
DSRM	205	271	5.54e-22	SMART
Pfam:Staufen_C	364	475	5.9e-51	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145819

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149454

Predicted Effect

probably benign
Transcript: ENSMUST00000163437
AA Change: V604A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: V604A

Domain	Start	End	E-Value	Type
Pfam:Cse1	1	237	7.9e-105	PFAM
Pfam:CAS_CSE1	225	649	2.3e-195	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163917

Predicted Effect

probably benign
Transcript: ENSMUST00000164974

SMART Domains

Protein: ENSMUSP00000128515
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
Pfam:CAS_CSE1	24	72	5.4e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000168599
AA Change: V861A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: V861A

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	256	8.6e-40	PFAM
Pfam:Cse1	255	470	7.3e-99	PFAM
Pfam:CAS_CSE1	471	906	1.3e-201	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172037

Predicted Effect

probably benign
Transcript: ENSMUST00000184390

SMART Domains

Protein: ENSMUSP00000139039
Gene: ENSMUSG00000039536

Domain	Start	End	E-Value	Type
Blast:DSRM	1	73	4e-21	BLAST
DSRM	97	168	4.04e-15	SMART
DSRM	205	271	5.54e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169290

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718

Domain	Start	End	E-Value	Type
IBN_N	29	102	2e-10	SMART
Pfam:Cse1	156	389	5.2e-102	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins that carry a nuclear localization signal (NLS) are transported into the nucleus by the importin-alpha/beta heterodimer. Importin-alpha binds the NLS, while importin-beta mediates translocation through the nuclear pore complex. After translocation, RanGTP binds importin-beta and displaces importin-alpha. Importin-alpha must then be returned to the cytoplasm, leaving the NLS protein behind. The protein encoded by this gene binds strongly to NLS-free importin-alpha, and this binding is released in the cytoplasm by the combined action of RANBP1 and RANGAP1. In addition, the encoded protein may play a role both in apoptosis and in cell proliferation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Embryos homozygous for a targeted null mutation die prior to E5.5 of development and are morphologically disorganized and lack identifiable structures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700029J07Rik	A	T	8: 45,970,468	I69N	probably damaging	Het
1810024B03Rik	A	G	2: 127,187,099	V60A	probably damaging	Het
Afg3l1	A	G	8: 123,501,935	T747A	probably benign	Het
Aldh4a1	T	C	4: 139,643,429	S408P	probably damaging	Het
Ank2	T	C	3: 127,032,016	T445A	probably benign	Het
Antxrl	A	G	14: 34,075,835	E589G	possibly damaging	Het
Arhgef12	C	T	9: 43,010,193	G329R	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
AY358078	T	A	14: 51,826,075	C393S	possibly damaging	Het
Brca2	T	A	5: 150,536,165	C302S	possibly damaging	Het
Ccdc169	T	A	3: 55,150,805	M4K	probably benign	Het
Ccdc66	T	C	14: 27,500,420	N122S	probably damaging	Het
Cd226	T	C	18: 89,207,219	V80A	probably damaging	Het
Cdc73	T	C	1: 143,677,857		probably null	Het
Cxcr1	G	C	1: 74,192,737	T42S	probably benign	Het
Dhx9	TCC	TC	1: 153,467,051		probably null	Het
Ercc3	G	A	18: 32,245,571	A202T	probably benign	Het
Erp27	A	G	6: 136,919,949	V85A	probably damaging	Het
Fgf8	T	G	19: 45,738,153	I137L	probably benign	Het
Fgfrl1	T	A	5: 108,703,535	V106D	probably damaging	Het
Gaa	T	C	11: 119,278,958	W613R	probably damaging	Het
Gabarap	A	G	11: 69,994,461	N66S	probably benign	Het
Gm13103	T	A	4: 143,852,881	H345Q	probably benign	Het
Gm13178	A	G	4: 144,703,228	V397A	probably benign	Het
Gp1bb	A	T	16: 18,621,143	L67Q	probably damaging	Het
Gpn1	T	C	5: 31,497,352		probably null	Het
Gstt1	T	C	10: 75,794,135	Y48C	probably damaging	Het
Impad1	T	C	4: 4,767,878	I299M	probably damaging	Het
Iqcg	C	T	16: 33,040,764	R194K	probably null	Het
Iqcg	C	G	16: 33,040,763		probably null	Het
Kcnj3	C	T	2: 55,446,979	R286*	probably null	Het
Klhl38	T	A	15: 58,323,220	I38F	possibly damaging	Het
Kmo	C	A	1: 175,651,642	P248Q	probably benign	Het
Mbtps1	A	T	8: 119,535,347	D354E	probably damaging	Het
Mcpt9	C	T	14: 56,028,592	V60M	probably damaging	Het
Mical3	C	A	6: 120,934,838	E1083*	probably null	Het
Mprip	T	C	11: 59,731,573	V162A	probably damaging	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Myocd	T	C	11: 65,187,745	D408G	possibly damaging	Het
Myt1l	A	G	12: 29,842,540	T59A	probably benign	Het
Ndufb7	A	G	8: 83,566,865	E16G	probably damaging	Het
Ndufs7	T	A	10: 80,256,667	Y203*	probably null	Het
Nploc4	C	T	11: 120,385,787	V478I	probably benign	Het
Nrap	A	G	19: 56,335,024		probably null	Het
Oit1	T	A	14: 8,358,429	S57C	probably damaging	Het
Olfr513	A	T	7: 108,755,627	Y257F	probably damaging	Het
Olfr777	G	A	10: 129,268,405	A306V	probably benign	Het
Pald1	T	C	10: 61,348,616	T241A	probably benign	Het
Pdss2	T	C	10: 43,372,201	S234P	probably damaging	Het
Pias2	T	A	18: 77,130,107	V335E	probably damaging	Het
Ppip5k2	C	A	1: 97,755,136	K187N	probably damaging	Het
Ppp3cb	T	C	14: 20,520,646	N339S	possibly damaging	Het
Ppp4r1	T	G	17: 65,813,464	C181G	probably damaging	Het
Prkdc	G	A	16: 15,810,824	E3478K	probably damaging	Het
Prpf4b	T	C	13: 34,888,164		probably benign	Het
Psme3	T	A	11: 101,317,609		probably null	Het
Ptpre	C	A	7: 135,667,643	Y284*	probably null	Het
Scnn1a	A	G	6: 125,322,160	I94V	probably damaging	Het
Secisbp2l	C	T	2: 125,740,737	G933D	possibly damaging	Het
Shc2	T	C	10: 79,623,856	D418G	probably benign	Het
Sidt1	A	T	16: 44,255,026	D661E	probably damaging	Het
Slc35e2	T	C	4: 155,617,649	F290S	probably benign	Het
Sorcs1	A	G	19: 50,312,964		probably null	Het
Stox2	A	G	8: 47,192,935	S497P	probably damaging	Het
Tmem270	C	A	5: 134,901,628	E260*	probably null	Het
Tmtc2	T	C	10: 105,413,530	Y114C	probably benign	Het
Trim46	A	G	3: 89,243,651	F188S	probably benign	Het
Trim7	T	A	11: 48,837,528	M1K	probably null	Het
Txnip	A	G	3: 96,558,288	E18G	probably benign	Het
Usp34	A	G	11: 23,464,633	N2859D	probably damaging	Het
Vmn2r94	T	A	17: 18,257,385	I255F	probably benign	Het
Xkr5	T	A	8: 18,933,717	N603I	possibly damaging	Het
Zfp512	C	T	5: 31,480,226	A497V	probably benign	Het
Zfp518b	T	C	5: 38,673,627	N345S	probably damaging	Het

Other mutations in Cse1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00420:Cse1l	APN	2	166927804	missense	probably damaging	1.00
IGL01306:Cse1l	APN	2	166927508	nonsense	probably null
IGL01672:Cse1l	APN	2	166929967	missense	probably damaging	1.00
IGL02060:Cse1l	APN	2	166930653	missense	probably damaging	1.00
IGL02897:Cse1l	APN	2	166919708	missense	possibly damaging	0.47
IGL03375:Cse1l	APN	2	166943057	splice site	probably benign
ANU23:Cse1l	UTSW	2	166927508	nonsense	probably null
PIT4585001:Cse1l	UTSW	2	166941474	missense	probably damaging	1.00
R0195:Cse1l	UTSW	2	166940088	missense	probably benign
R1114:Cse1l	UTSW	2	166941203	splice site	probably benign
R1539:Cse1l	UTSW	2	166926372	missense	probably benign	0.00
R1721:Cse1l	UTSW	2	166926411	missense	probably damaging	1.00
R1779:Cse1l	UTSW	2	166940124	splice site	probably null
R1913:Cse1l	UTSW	2	166922191	missense	probably damaging	1.00
R2069:Cse1l	UTSW	2	166941492	missense	probably benign	0.01
R2398:Cse1l	UTSW	2	166928997	missense	probably damaging	1.00
R4110:Cse1l	UTSW	2	166942050	missense	probably benign	0.00
R4195:Cse1l	UTSW	2	166929979	missense	probably damaging	1.00
R4686:Cse1l	UTSW	2	166932160	missense	probably damaging	1.00
R4867:Cse1l	UTSW	2	166926403	missense	possibly damaging	0.76
R4942:Cse1l	UTSW	2	166929794	missense	probably damaging	1.00
R5164:Cse1l	UTSW	2	166944428	missense	probably benign	0.02
R5475:Cse1l	UTSW	2	166941254	missense	probably damaging	1.00
R5493:Cse1l	UTSW	2	166941190	intron	probably benign
R5782:Cse1l	UTSW	2	166929001	missense	probably damaging	1.00
R5862:Cse1l	UTSW	2	166915207	missense	probably benign	0.00
R6030:Cse1l	UTSW	2	166919621	missense	probably benign	0.01
R6030:Cse1l	UTSW	2	166919621	missense	probably benign	0.01
R6913:Cse1l	UTSW	2	166929877	missense	possibly damaging	0.65
R7683:Cse1l	UTSW	2	166922788	missense	probably benign
R7871:Cse1l	UTSW	2	166935671	splice site	probably null
R8001:Cse1l	UTSW	2	166939913	missense	probably damaging	1.00
R8057:Cse1l	UTSW	2	166939925	missense	probably damaging	1.00
R8175:Cse1l	UTSW	2	166943208	critical splice donor site	probably null
R8347:Cse1l	UTSW	2	166927585	missense	possibly damaging	0.95
R8386:Cse1l	UTSW	2	166919684	missense	probably benign	0.00
R8479:Cse1l	UTSW	2	166921973	missense	possibly damaging	0.95
R8973:Cse1l	UTSW	2	166943080	missense	probably damaging	1.00
R9206:Cse1l	UTSW	2	166941265	missense	probably damaging	1.00
R9208:Cse1l	UTSW	2	166941265	missense	probably damaging	1.00
R9522:Cse1l	UTSW	2	166934753	missense	probably benign
R9599:Cse1l	UTSW	2	166941466	missense	probably benign
R9600:Cse1l	UTSW	2	166915199	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGCACTGTCCAATCCAGG -3'
(R):5'- GCTAAATGCAATTAAAGGTCCAGTC -3'

Sequencing Primer
(F):5'- AATCCAGGACTCCTTTGTTACAATC -3'
(R):5'- GTATAGTGCTAGCCATCCTGGAAC -3'

Posted On

2015-09-25