Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:Cse1l'

718932

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 #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 166934753 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 495 (V495I)

Ref Sequence

ENSEMBL: ENSMUSP00000002790 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: V495I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: V495I

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: ENSMUST00000163437
AA Change: V210I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: V210I

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
AA Change: V439I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: V439I

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

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,466,123	S5C	probably damaging	Het
5830411N06Rik	T	A	7: 140,274,074	I330N	possibly damaging	Het
Abca14	A	T	7: 120,248,145	Y744F	probably null	Het
Adam17	C	A	12: 21,345,692	V277F	probably damaging	Het
Adcy8	C	T	15: 64,920,711	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,199,484	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,672,082	I212N	probably damaging	Het
Allc	A	T	12: 28,570,654	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,116,154	T7A	probably benign	Het
Bbs4	A	G	9: 59,353,408		probably null	Het
Btbd1	G	T	7: 81,829,333	P20H	unknown	Het
Cass4	A	G	2: 172,427,428	I477V	possibly damaging	Het
Cep83	A	G	10: 94,750,322	E362G	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cntnap5b	A	G	1: 100,484,622	D896G	probably benign	Het
Crocc2	T	C	1: 93,189,707	V305A	probably benign	Het
Ctsj	A	T	13: 61,004,443	Y36*	probably null	Het
Ctss	T	G	3: 95,546,798	D220E	probably benign	Het
Ctu1	T	C	7: 43,675,476	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,764,073	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,478,762		probably benign	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,778,055	Y167*	probably null	Het
E4f1	C	T	17: 24,447,122	G234D	probably damaging	Het
Eif3g	G	T	9: 20,898,155	T27N	probably benign	Het
Eif3g	T	A	9: 20,898,156	T27S	probably benign	Het
Fcrls	A	G	3: 87,256,794	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,159,148		probably null	Het
Gm4450	T	C	3: 98,446,467	S239G	probably benign	Het
Gm960	T	C	19: 4,627,246	H612R	probably benign	Het
Igf2r	G	T	17: 12,698,328	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,394,237	V232I	probably benign	Het
Irx5	C	T	8: 92,360,631	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,849,907	V219D	probably damaging	Het
Klkb1	T	C	8: 45,277,015	I276M	probably benign	Het
Large2	A	G	2: 92,369,921	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423	D61G	probably benign	Het
Map7	A	G	10: 20,229,896	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,880,441	I462F	probably benign	Het
Olfr1158	G	A	2: 87,990,831	C240Y	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1450	T	A	19: 12,954,013	C141*	probably null	Het
Phf20l1	T	C	15: 66,632,820	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,313,148	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,182,527	W242R	probably damaging	Het
Rgs3	A	G	4: 62,605,492	I53M	probably benign	Het
Rif1	T	C	2: 52,081,299	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,806,594		probably null	Het
Ryr3	T	A	2: 112,730,414	I3001F	probably benign	Het
Safb2	A	G	17: 56,566,900	I675T	probably damaging	Het
Sec16b	C	T	1: 157,564,765	S901L	probably damaging	Het
Setd5	T	G	6: 113,115,034	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,909,512	M536K	probably damaging	Het
Slfn3	T	C	11: 83,212,999	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,716,966	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,198,744	D251G	probably benign	Het
Tbccd1	T	C	16: 22,822,499	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,805,730	P368T	probably benign	Het
Top1mt	T	C	15: 75,667,460	D362G	probably damaging	Het
Ugt3a2	C	A	15: 9,370,123	P451H	probably damaging	Het
Unc80	G	A	1: 66,638,062	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,928,777	V131A	probably damaging	Het
Wdr89	A	G	12: 75,633,150	F110S	probably damaging	Het
Znrf3	T	C	11: 5,282,379	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,769,370	D754G	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
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
R9599:Cse1l	UTSW	2	166941466	missense	probably benign
R9600:Cse1l	UTSW	2	166915199	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAATAAACCGTGCTTGGGAAC -3'
(R):5'- TTAGGAAAACACCCTGAGACATCTC -3'

Sequencing Primer
(F):5'- TGCTTGGGAACACAGCC -3'
(R):5'- AGTAAGGTATACCCCTCTGCCTTAAG -3'

Posted On

2022-07-18