Mutagenetix > Incidental Mutation

Incidental Mutation 'R6030:Cse1l'

480311

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

044202-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6030 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

166906040-166946389 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 166919621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 32 (F32L)

Ref Sequence

ENSEMBL: ENSMUSP00000128376 (fasta)

Gene Model

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

AlphaFold

Q9ERK4

Predicted Effect

probably benign
Transcript: ENSMUST00000002790
AA Change: F32L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: F32L

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: ENSMUST00000168599
AA Change: F32L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: F32L

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
AA Change: F32L

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: F32L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171410

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.1%
20x: 86.0%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,255,733	W59R	probably damaging	Het
Abca16	A	G	7: 120,533,798	N1317D	probably benign	Het
Abhd8	T	A	8: 71,458,150	Y338F	possibly damaging	Het
Actg2	G	T	6: 83,516,364	N297K	probably damaging	Het
Agap1	A	G	1: 89,630,434	D148G	probably damaging	Het
Alox12	T	C	11: 70,254,591	D52G	possibly damaging	Het
Ano5	T	A	7: 51,574,825	S496T	probably damaging	Het
Arl6ip4	T	C	5: 124,117,905		probably null	Het
Atp4a	G	C	7: 30,722,516	E826Q	probably damaging	Het
Bbs7	T	C	3: 36,602,911	D256G	probably damaging	Het
Bckdha	T	A	7: 25,631,441	D50V	probably damaging	Het
Cast	A	G	13: 74,695,937	S693P	possibly damaging	Het
Col6a1	T	C	10: 76,709,866	Y924C	unknown	Het
Crkl	A	G	16: 17,452,740	Y88C	probably damaging	Het
Dmxl2	C	T	9: 54,393,673	V2385I	probably benign	Het
Dnah1	T	A	14: 31,268,027	I3219F	probably damaging	Het
Dnah17	C	T	11: 118,025,549	R4266H	probably benign	Het
Efcab5	A	G	11: 77,121,262	L722P	probably damaging	Het
Emilin3	C	A	2: 160,909,185	V215L	probably benign	Het
Esr1	A	T	10: 4,746,622	N157I	possibly damaging	Het
Esrrg	A	G	1: 188,198,707	M309V	probably benign	Het
Fam120b	G	A	17: 15,401,910	R50Q	probably damaging	Het
Fat2	G	T	11: 55,310,303	Y648*	probably null	Het
Gbp2b	T	A	3: 142,603,653	I175N	probably benign	Het
Gm1043	T	A	5: 37,154,608		probably benign	Het
Gm21060	A	G	19: 61,296,973	C33R	possibly damaging	Het
Gm9803	C	T	10: 43,524,256	A30V	probably benign	Het
Gpx6	C	T	13: 21,312,340	S28L	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Ifi44	T	C	3: 151,749,558	Q10R	probably benign	Het
Impa2	T	C	18: 67,318,428	V264A	probably benign	Het
Khdc1a	A	T	1: 21,350,884	M98L	probably benign	Het
Lrrc45	T	A	11: 120,720,648	L616*	probably null	Het
Mios	A	T	6: 8,215,704	H300L	probably benign	Het
Mllt6	A	T	11: 97,677,225	T827S	probably damaging	Het
Mrc1	C	A	2: 14,316,901	D1068E	probably benign	Het
Ndst3	T	C	3: 123,552,519	Y702C	probably damaging	Het
Nek11	T	A	9: 105,204,888		probably null	Het
Nek4	T	C	14: 30,956,933	F138S	probably damaging	Het
Nfatc4	T	A	14: 55,832,440	Y688*	probably null	Het
Nlrx1	C	T	9: 44,263,760	V240M	probably damaging	Het
Npy6r	A	T	18: 44,276,082	Y190F	probably benign	Het
Olfr338	T	G	2: 36,377,544	L256R	probably damaging	Het
Olfr472	A	G	7: 107,903,413	E232G	probably benign	Het
Olfr509	A	C	7: 108,646,226	S117A	possibly damaging	Het
Olfr548-ps1	C	A	7: 102,542,610	R225S	probably benign	Het
Olfr780	A	T	10: 129,322,369	T249S	probably benign	Het
Olfr960	T	C	9: 39,623,341	F71L	probably damaging	Het
Osbpl7	A	C	11: 97,052,261	H113P	probably benign	Het
Pck1	A	G	2: 173,154,857	E188G	probably benign	Het
Pimreg	A	G	11: 72,045,750	D213G	probably benign	Het
Pkd1l2	A	G	8: 117,043,237	I1160T	probably damaging	Het
Ppargc1b	G	A	18: 61,307,934	Q622*	probably null	Het
Ppfia2	T	A	10: 106,906,477	C1044S	probably damaging	Het
Ppp4r3a	A	G	12: 101,058,400	V280A	probably damaging	Het
Ptprf	T	C	4: 118,211,048	N1764D	probably benign	Het
Pygm	C	T	19: 6,388,812	R311C	possibly damaging	Het
Rab7b	A	G	1: 131,698,561	K109R	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Het
Sdccag3	T	C	2: 26,386,971	D249G	possibly damaging	Het
Setbp1	T	G	18: 78,857,711	I914L	probably benign	Het
Shprh	A	C	10: 11,151,991	Q114P	probably benign	Het
Slc5a9	T	C	4: 111,885,528	I456V	possibly damaging	Het
Slc8b1	T	C	5: 120,519,920		probably null	Het
Spin1	T	A	13: 51,139,516	Y87*	probably null	Het
Srebf2	T	C	15: 82,177,276		probably null	Het
Sufu	T	C	19: 46,475,539	Y397H	probably damaging	Het
Tgfb3	A	C	12: 86,063,850	V242G	probably benign	Het
Tgm3	A	T	2: 130,042,000	Y526F	probably damaging	Het
Tmem209	A	G	6: 30,482,968	L508P	probably damaging	Het
Tmem67	T	C	4: 12,063,799	D454G	probably benign	Het
Ttn	T	C	2: 76,816,599	E3280G	possibly damaging	Het
Tusc3	G	C	8: 39,071,406	G200R	probably damaging	Het
Umps	A	G	16: 33,962,138	V138A	probably benign	Het
Wdr66	C	T	5: 123,274,204	T532M	probably damaging	Het
Ypel1	A	G	16: 17,084,513		probably null	Het
Zdhhc19	T	A	16: 32,499,042	L63Q	probably null	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
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

Posted On

2017-06-26