Mutagenetix > Incidental Mutation

Incidental Mutation 'R8057:Cse1l'

619428

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 #

R8057 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 166939925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 663 (V663D)

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: V663D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: V663D

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: V350D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: V350D

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: V607D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: V607D

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (81/81)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	C	T	16: 8,830,368		probably benign	Het
4930523C07Rik	T	C	1: 160,075,256	L32P	probably damaging	Het
4930563M21Rik	T	C	9: 56,009,280	T38A	unknown	Het
Abcb6	T	C	1: 75,174,358	N563D	probably damaging	Het
Ak4	T	C	4: 101,460,653	F140S	probably damaging	Het
Arhgap27	T	A	11: 103,338,693	R296S	probably damaging	Het
Atxn7l1	A	C	12: 33,326,002	K98N	probably damaging	Het
Bex6	G	T	16: 32,186,406	D11Y	probably damaging	Het
Camta1	T	C	4: 151,144,032	D781G	probably damaging	Het
Capn7	A	G	14: 31,370,979	D800G	probably benign	Het
Carmil2	G	A	8: 105,692,376	V716I	probably benign	Het
Cdk5	C	A	5: 24,420,784	D144Y	probably damaging	Het
Cep85	T	C	4: 134,153,614		probably benign	Het
Chd5	T	A	4: 152,366,372	L651Q	probably damaging	Het
Clcn7	C	T	17: 25,149,259	Q261*	probably null	Het
Cntnap2	T	A	6: 46,347,145	F576Y	probably damaging	Het
Col11a1	G	A	3: 114,131,614	G815D	unknown	Het
Col4a4	T	A	1: 82,523,870	R387S	unknown	Het
Csf2rb2	G	T	15: 78,285,006	Q650K	probably damaging	Het
Ctnnd2	A	G	15: 30,847,351	D696G	possibly damaging	Het
D17Wsu92e	C	T	17: 27,767,889	A288T	unknown	Het
Dnah7c	T	A	1: 46,688,952	C2937S	possibly damaging	Het
Epha10	A	T	4: 124,902,683	Q395L		Het
Fam167a	T	A	14: 63,452,320	V22E	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Gabra4	A	G	5: 71,623,952	I372T	probably benign	Het
Gm3550	T	C	18: 34,737,529	F39L	probably damaging	Het
Gpt	A	G	15: 76,696,772		probably benign	Het
H2-K1	C	T	17: 33,996,859	G336D	possibly damaging	Het
Hoxd8	T	C	2: 74,704,726		probably null	Het
Kdm5d	T	G	Y: 927,355	D658E	possibly damaging	Het
Krt25	G	A	11: 99,317,343	T353M	probably benign	Het
Lonp2	T	C	8: 86,714,089	L778P	probably damaging	Het
Lrrc66	G	A	5: 73,607,532	Q723*	probably null	Het
Mak	T	A	13: 41,049,337	I212F	probably damaging	Het
Mastl	T	A	2: 23,133,554	R386W	possibly damaging	Het
Mis18bp1	A	G	12: 65,148,899	I697T	possibly damaging	Het
Nek5	G	A	8: 22,088,906	T415I	probably benign	Het
Neu3	T	A	7: 99,814,228	N96I	probably benign	Het
Nxph2	T	C	2: 23,400,095	V153A	possibly damaging	Het
Odf3l2	T	A	10: 79,640,001	H243L	probably damaging	Het
Olfr1454	G	A	19: 13,063,274		probably benign	Het
Olfr518	A	T	7: 108,881,364	F81I	probably damaging	Het
Olfr878	A	G	9: 37,919,164	D169G	probably benign	Het
Otogl	T	C	10: 107,808,615	T1257A	probably benign	Het
Pcdh10	G	A	3: 45,379,259	V3M	probably benign	Het
Pitpnm1	G	A	19: 4,112,145	R1017Q	probably null	Het
Plcb3	A	C	19: 6,955,095	H1065Q	probably benign	Het
Plcb3	A	T	19: 6,958,899	M752K	probably damaging	Het
Plch1	T	C	3: 63,698,136	E1449G	probably benign	Het
Plekha4	T	A	7: 45,549,271	C573S	probably benign	Het
Plin2	T	C	4: 86,657,401	I304V	possibly damaging	Het
Pnp2	G	A	14: 50,964,381	V275I	probably benign	Het
Polr1a	G	A	6: 71,931,660	A490T	possibly damaging	Het
Ppp1r12b	A	G	1: 134,955,616	F56S	probably damaging	Het
Ptk2	GA	G	15: 73,298,199		probably null	Het
Rb1cc1	C	A	1: 6,245,219	R473S	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Het
Rdx	T	C	9: 52,065,646	V65A	probably damaging	Het
Rps6ka5	A	G	12: 100,573,796		probably null	Het
Samd5	C	T	10: 9,674,897	V23M	probably damaging	Het
Scn9a	T	G	2: 66,515,430	R1117S	probably benign	Het
Scrn1	T	A	6: 54,520,773	I278L	probably benign	Het
Sec31b	G	T	19: 44,519,365	P747T	probably damaging	Het
Sipa1l2	A	T	8: 125,468,530	V823E	probably damaging	Het
Slc2a13	T	C	15: 91,516,416	N201S	probably damaging	Het
Slc30a3	C	A	5: 31,090,051		probably benign	Het
Snx31	C	A	15: 36,523,460	V359F	probably damaging	Het
Sstr2	A	G	11: 113,624,273	E6G	probably benign	Het
Stc2	C	A	11: 31,367,806	E72*	probably null	Het
Tead1	C	T	7: 112,759,514	P11L	probably benign	Het
Tmem51	T	C	4: 142,031,748	T230A	probably damaging	Het
Tmem63c	A	T	12: 87,072,198	K301*	probably null	Het
Tns3	G	C	11: 8,492,773	A530G	probably benign	Het
Trat1	T	C	16: 48,742,237	D70G	probably damaging	Het
Trex1	T	A	9: 109,058,329	E198V	probably damaging	Het
Ttn	T	G	2: 76,739,728	R26940S	probably damaging	Het
Uba2	T	C	7: 34,168,410	K34R	possibly damaging	Het
Vps13d	A	C	4: 144,975,183	M4376R		Het
Zfp157	C	A	5: 138,456,074	T178K	probably damaging	Het
Zfp318	T	A	17: 46,399,766	V805D	possibly 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
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'- TGCAAAGCTAACCCTGCTGC -3'
(R):5'- AGTTGCTATTGTACTTGAGCCTCG -3'

Sequencing Primer
(F):5'- AAAGCTAACCCTGCTGCTGTTG -3'
(R):5'- CCTCGTTCTAAGAATGCCTGGAG -3'

Posted On

2020-01-23