Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Cse1l'

628669

Institutional Source

Beutler Lab

Gene Symbol

Cse1l

Ensembl Gene

ENSMUSG00000002718

Gene Name

chromosome segregation 1-like (S. cerevisiae)

Synonyms

Capts, Xpo2, 2610100P18Rik, Cas

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7871 (G1)

Quality Score

124.008

Status

Validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 166935671 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126757 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002790] [ENSMUST00000163437] [ENSMUST00000168599] [ENSMUST00000169290]

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718

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 null
Transcript: ENSMUST00000163437

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718

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

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

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718

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

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,183,226	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,471,038		probably null	Het
Arpin	A	T	7: 79,927,715	W195R	probably damaging	Het
Asap1	A	G	15: 64,092,076	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,524,224	T1764A	not run	Het
Bmp7	C	A	2: 172,939,991	A27S	probably benign	Het
Ccnh	T	A	13: 85,211,872	Y297*	probably null	Het
Ccno	C	A	13: 112,988,113	D72E	probably benign	Het
Cd70	T	G	17: 57,148,770	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,687,400		probably null	Het
Chst4	A	G	8: 110,030,913	F106S	probably damaging	Het
Cntnap3	A	C	13: 64,903,773	L23R	probably benign	Het
Crybg2	T	A	4: 134,087,599	L1288H	probably damaging	Het
Cyfip2	T	C	11: 46,242,350	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,560,961	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 71,988,643	P498S	possibly damaging	Het
Dennd1b	G	A	1: 139,062,873	E192K	probably damaging	Het
Dnah3	T	A	7: 119,967,552	I97F		Het
Entpd3	A	G	9: 120,560,586	R313G	possibly damaging	Het
Erg28	G	A	12: 85,819,479	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,225,384	H518R	probably benign	Het
Fam50b	G	A	13: 34,747,101	E187K	possibly damaging	Het
Galntl6	T	C	8: 57,837,188	E457G	probably damaging	Het
Glt8d1	A	T	14: 31,010,339	H192L	probably damaging	Het
Gm15446	T	A	5: 109,943,299	C472*	probably null	Het
Gm28363	A	T	1: 117,697,498	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gstp3	T	A	19: 4,058,746	K45*	probably null	Het
Hsd17b13	A	G	5: 103,965,815	F258L	possibly damaging	Het
Htt	T	C	5: 34,864,649	S1646P	probably benign	Het
Ipo11	T	C	13: 106,892,468	M326V	probably benign	Het
Itpr3	T	A	17: 27,117,179	I2293N	probably damaging	Het
Klk8	A	G	7: 43,799,326		probably null	Het
Kntc1	T	A	5: 123,784,227	L963H	probably damaging	Het
Lyst	T	A	13: 13,636,052	L769*	probably null	Het
Map3k13	A	G	16: 21,921,596	S558G	probably benign	Het
Mbd1	G	A	18: 74,274,057		probably null	Het
Mep1a	T	C	17: 43,479,235	N408D	probably benign	Het
Mtrf1	A	G	14: 79,406,938	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935	S1603L	unknown	Het
Myo1b	A	C	1: 51,779,580	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,807,103	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,798,496	K618*	probably null	Het
Ncstn	T	C	1: 172,075,456	D87G	probably benign	Het
Neurl4	T	C	11: 69,903,186	V156A	probably benign	Het
Nfasc	C	A	1: 132,600,013	G885V	not run	Het
Nox4	A	T	7: 87,314,127	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,623,251	T449A	probably benign	Het
Olfr799	A	G	10: 129,647,412	I95V	probably benign	Het
Pik3r4	T	C	9: 105,663,117	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 95,001,909	I645T	probably damaging	Het
Rras2	G	A	7: 114,117,548		probably benign	Het
Rtel1	T	C	2: 181,321,029	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,273,153	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,559,085	H280R	not run	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Skor1	T	C	9: 63,146,501	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,263,355	N106I	possibly damaging	Het
Slc44a4	T	A	17: 34,923,852		probably null	Het
Sppl2c	A	G	11: 104,188,516		probably null	Het
Sptbn2	C	G	19: 4,749,012	R2037G	probably benign	Het
Stx5a	T	A	19: 8,755,118	W384R	unknown	Het
Topaz1	A	G	9: 122,780,700	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,446,238	M1157L	probably benign	Het
Ttn	T	C	2: 76,717,215	T32204A	probably benign	Het
Ttn	T	C	2: 76,748,145	T24135A	probably damaging	Het
Ttn	T	C	2: 76,965,137	E632G	unknown	Het
Vmn2r109	T	C	17: 20,540,520	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,623,661	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,181,065	D271G	probably damaging	Het
Zfp629	A	G	7: 127,611,995	F214S	probably damaging	Het
Zfp709	A	G	8: 71,889,464	I246V	probably benign	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
R4603:Cse1l	UTSW	2	166944532	missense	probably benign	0.09
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
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'- ACACAGTCTTGGGCTCTGATC -3'
(R):5'- ACGAACTCTCAGCCTTTCACTG -3'

Sequencing Primer
(F):5'- GGGCTCTGATCTTCACCCAG -3'
(R):5'- AACTCTCAGCCTTTCACTGTGGAG -3'

Posted On

2020-06-08