Mutagenetix > Incidental Mutation

Incidental Mutation 'R9208:Cse1l'

698615

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9208 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 166941265 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 743 (N743K)

Ref Sequence

ENSEMBL: ENSMUSP00000002790 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably damaging
Transcript: ENSMUST00000002790
AA Change: N743K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: N743K

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 damaging
Transcript: ENSMUST00000163437
AA Change: N430K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: N430K

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 damaging
Transcript: ENSMUST00000168599
AA Change: N687K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: N687K

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: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (65/66)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	C	T	6: 149,326,529	L358F	probably damaging	Het
Acot6	T	A	12: 84,106,584	L200Q	possibly damaging	Het
AI314180	A	T	4: 58,875,444	D173E	probably damaging	Het
Apbb1	A	G	7: 105,559,520	S569P	probably damaging	Het
Atl3	A	G	19: 7,510,082	I121V	probably benign	Het
C87436	A	G	6: 86,446,245	D267G	probably benign	Het
Ccdc7a	T	A	8: 128,746,001	I1617F	possibly damaging	Het
Cic	T	C	7: 25,288,077	F1397L	probably benign	Het
Cln6	T	A	9: 62,849,183	M203K	probably benign	Het
Clock	A	G	5: 76,237,024	S449P	probably benign	Het
Cyp1a2	A	G	9: 57,682,300	I77T	probably damaging	Het
D6Wsu163e	A	G	6: 126,966,969	I443V	probably benign	Het
Dctn1	T	C	6: 83,199,702	V1246A	probably benign	Het
Dennd5b	T	C	6: 149,101,200	E37G	probably benign	Het
Dnah11	C	T	12: 118,027,516	E2372K	probably damaging	Het
Ercc5	T	C	1: 44,178,343	W949R	possibly damaging	Het
Fam13c	A	G	10: 70,553,039	E465G	probably damaging	Het
Fam83d	T	A	2: 158,768,546	C145S	probably damaging	Het
Fbln7	T	A	2: 128,895,423	V386E	probably damaging	Het
Fpr3	A	T	17: 17,970,869	Q134L	probably damaging	Het
Gm3636	T	A	14: 6,741,416	R5S	possibly damaging	Het
Gna15	A	G	10: 81,509,390	S214P	probably benign	Het
Hdac9	A	G	12: 34,170,102	M897T	probably benign	Het
Hdc	T	C	2: 126,594,680	N424D	probably benign	Het
Krtap27-1	A	G	16: 88,671,428	V76A	possibly damaging	Het
Lrrd1	T	A	5: 3,850,995	H433Q	probably damaging	Het
Ltn1	T	C	16: 87,400,410	D1180G	probably benign	Het
Macf1	A	G	4: 123,684,132	C20R	unknown	Het
Mphosph9	T	C	5: 124,312,791	N306D	probably damaging	Het
Mpp7	T	C	18: 7,403,327	R328G	probably benign	Het
Mslnl	C	T	17: 25,742,720	P117S	possibly damaging	Het
Muc16	T	A	9: 18,508,537	K117M	probably damaging	Het
Mycbp2	T	C	14: 103,295,228	N430S	probably benign	Het
Myl1	T	C	1: 66,934,524	I8V	probably benign	Het
Ncdn	A	T	4: 126,750,248	D260E	probably benign	Het
Nkx3-2	T	A	5: 41,761,771	R291S	probably damaging	Het
Nr4a2	A	G	2: 57,109,081	V448A	probably damaging	Het
Nrip1	T	C	16: 76,292,728	E647G	possibly damaging	Het
Olfr1259	C	A	2: 89,943,381	V245L	possibly damaging	Het
Olfr282	C	A	15: 98,437,733	A88E	probably benign	Het
Olfr69	A	G	7: 103,768,271	I42T	probably benign	Het
Olfr892-ps1	T	C	9: 38,189,824	M33T	possibly damaging	Het
Patj	A	T	4: 98,539,073	I172F	unknown	Het
Per1	T	C	11: 69,104,810	S739P	possibly damaging	Het
Plekhn1	A	C	4: 156,222,402	V510G	possibly damaging	Het
Plxna4	A	T	6: 32,517,444	V79D	probably damaging	Het
Pram1	A	G	17: 33,640,827	T123A	probably benign	Het
Ptpn23	C	A	9: 110,408,033		probably null	Het
Rcbtb2	C	T	14: 73,177,060	S437L	probably damaging	Het
Rxfp4	T	A	3: 88,652,083	R354*	probably null	Het
Serpinb5	A	G	1: 106,876,123	T180A	probably damaging	Het
Slc7a14	T	A	3: 31,227,210	D317V	probably damaging	Het
Slco5a1	A	G	1: 12,989,578		probably null	Het
Snx14	T	A	9: 88,383,779	T768S	probably benign	Het
Sorbs1	T	A	19: 40,365,018		probably benign	Het
Stambp	C	T	6: 83,551,972	A364T	probably damaging	Het
Tgm3	T	A	2: 130,023,698	I6N	possibly damaging	Het
Tmem106b	A	T	6: 13,082,431	T202S	probably damaging	Het
Tnfsf8	A	G	4: 63,834,213	V205A	probably benign	Het
Treml2	A	T	17: 48,307,894	R136*	probably null	Het
Trim46	T	C	3: 89,235,159	T674A	possibly damaging	Het
Trmt13	T	A	3: 116,582,707	Y345F	possibly damaging	Het
Tspyl4	A	G	10: 34,297,572	H20R	probably benign	Het
Uvssa	T	C	5: 33,414,075		probably null	Het
Vmn1r192	A	T	13: 22,187,231	F273Y	probably damaging	Het
Vmn2r45	A	T	7: 8,483,299	I330N	probably damaging	Het
Zfp40	A	G	17: 23,175,577	F679L	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
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
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
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'- TGTCTGATACTCAGTCCACCAC -3'
(R):5'- ACTCTTGATAAACTTGGTGGTCTTG -3'

Sequencing Primer
(F):5'- ACACTACCACCTTGGCTGG -3'
(R):5'- TGCAGTCTCTGGAATAGTAGAATG -3'

Posted On

2022-02-07