Incidental Mutation 'R8479:Cse1l'
| ID |
657411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1 like |
| Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
| MMRRC Submission |
067923-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8479 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 166763893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 78
(E78K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
| AlphaFold |
Q9ERK4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002790
AA Change: E78K
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: E78K
| 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 |
possibly damaging
Transcript: ENSMUST00000168599
AA Change: E78K
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: E78K
| 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 |
possibly damaging
Transcript: ENSMUST00000169290
AA Change: E78K
PolyPhen 2
Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: E78K
| 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 |
100% (52/52) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
G |
A |
15: 83,112,061 (GRCm39) |
H241Y |
probably benign |
Het |
| Afg3l2 |
C |
T |
18: 67,581,986 (GRCm39) |
G29D |
probably benign |
Het |
| Ano2 |
T |
C |
6: 125,689,123 (GRCm39) |
S52P |
possibly damaging |
Het |
| Atp11a |
A |
T |
8: 12,892,932 (GRCm39) |
E641V |
possibly damaging |
Het |
| Atp6v1d |
T |
C |
12: 78,896,520 (GRCm39) |
T116A |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,403,596 (GRCm39) |
|
probably null |
Het |
| Cd109 |
T |
A |
9: 78,574,628 (GRCm39) |
Y537* |
probably null |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Celsr2 |
T |
A |
3: 108,306,218 (GRCm39) |
T2029S |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,736,707 (GRCm39) |
A711V |
probably benign |
Het |
| Col18a1 |
T |
C |
10: 76,916,988 (GRCm39) |
I114V |
unknown |
Het |
| Crhbp |
A |
G |
13: 95,578,632 (GRCm39) |
V163A |
possibly damaging |
Het |
| Crmp1 |
C |
A |
5: 37,441,502 (GRCm39) |
P414Q |
possibly damaging |
Het |
| Ctnna2 |
A |
G |
6: 77,735,573 (GRCm39) |
V35A |
probably damaging |
Het |
| Ddx1 |
T |
A |
12: 13,270,749 (GRCm39) |
N654I |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,315,022 (GRCm39) |
|
probably null |
Het |
| Dmtf1 |
C |
T |
5: 9,170,428 (GRCm39) |
V630I |
probably damaging |
Het |
| Ercc6 |
T |
C |
14: 32,248,363 (GRCm39) |
S305P |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 63,972,629 (GRCm39) |
S37T |
possibly damaging |
Het |
| Ess2 |
T |
C |
16: 17,728,805 (GRCm39) |
|
probably null |
Het |
| Fnip2 |
A |
G |
3: 79,419,862 (GRCm39) |
M138T |
probably damaging |
Het |
| Galnt9 |
T |
C |
5: 110,692,617 (GRCm39) |
V17A |
probably benign |
Het |
| Gm7324 |
T |
C |
14: 43,952,220 (GRCm39) |
S288P |
probably benign |
Het |
| Gucy2e |
G |
A |
11: 69,123,789 (GRCm39) |
A370V |
probably benign |
Het |
| H2-T13 |
G |
A |
17: 36,395,111 (GRCm39) |
A2V |
probably damaging |
Het |
| Ift57 |
T |
C |
16: 49,522,263 (GRCm39) |
F2L |
probably damaging |
Het |
| Ipo7 |
G |
A |
7: 109,638,452 (GRCm39) |
V240I |
probably benign |
Het |
| Lrrc4c |
A |
G |
2: 97,459,977 (GRCm39) |
Y201C |
probably damaging |
Het |
| Ly6g2 |
A |
G |
15: 75,089,626 (GRCm39) |
T45A |
probably damaging |
Het |
| Mapkap1 |
A |
T |
2: 34,471,302 (GRCm39) |
S389C |
probably damaging |
Het |
| Met |
G |
T |
6: 17,491,746 (GRCm39) |
|
probably null |
Het |
| Misp |
T |
C |
10: 79,663,750 (GRCm39) |
F575L |
possibly damaging |
Het |
| Mtmr11 |
T |
C |
3: 96,071,051 (GRCm39) |
L136P |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,574,799 (GRCm39) |
T1128M |
possibly damaging |
Het |
| Nfyc |
A |
T |
4: 120,626,089 (GRCm39) |
V70E |
probably damaging |
Het |
| Nphp4 |
T |
C |
4: 152,608,747 (GRCm39) |
S452P |
probably benign |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,687,212 (GRCm39) |
C141R |
probably damaging |
Het |
| Or5g25 |
A |
G |
2: 85,478,447 (GRCm39) |
S73P |
probably damaging |
Het |
| Pros1 |
G |
T |
16: 62,728,102 (GRCm39) |
G269W |
probably damaging |
Het |
| Rif1 |
A |
C |
2: 52,002,563 (GRCm39) |
S2006R |
possibly damaging |
Het |
| Ror2 |
G |
T |
13: 53,271,400 (GRCm39) |
N306K |
probably damaging |
Het |
| Rragd |
C |
T |
4: 33,018,734 (GRCm39) |
A379V |
probably benign |
Het |
| Slc10a2 |
C |
T |
8: 5,148,443 (GRCm39) |
|
probably null |
Het |
| Susd3 |
C |
T |
13: 49,390,952 (GRCm39) |
G113S |
probably benign |
Het |
| Tbc1d19 |
T |
A |
5: 54,041,031 (GRCm39) |
M371K |
possibly damaging |
Het |
| Tnn |
C |
A |
1: 159,950,397 (GRCm39) |
R736S |
probably benign |
Het |
| Trio |
T |
C |
15: 27,901,286 (GRCm39) |
T323A |
probably benign |
Het |
| Ubqln1 |
G |
A |
13: 58,339,653 (GRCm39) |
P324S |
probably benign |
Het |
| Uspl1 |
T |
C |
5: 149,152,004 (GRCm39) |
L1068P |
probably damaging |
Het |
| Vmn2r86 |
A |
T |
10: 130,282,735 (GRCm39) |
I627N |
probably damaging |
Het |
| Wdr35 |
C |
A |
12: 9,035,985 (GRCm39) |
T252K |
probably benign |
Het |
| Zfp62 |
T |
C |
11: 49,107,319 (GRCm39) |
I470T |
probably damaging |
Het |
|
| Other mutations in Cse1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Cse1l
|
APN |
2 |
166,769,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01306:Cse1l
|
APN |
2 |
166,769,428 (GRCm39) |
nonsense |
probably null |
|
|
IGL01672:Cse1l
|
APN |
2 |
166,771,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Cse1l
|
APN |
2 |
166,772,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02897:Cse1l
|
APN |
2 |
166,761,628 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03375:Cse1l
|
APN |
2 |
166,784,977 (GRCm39) |
splice site |
probably benign |
|
|
ANU23:Cse1l
|
UTSW |
2 |
166,769,428 (GRCm39) |
nonsense |
probably null |
|
|
PIT4585001:Cse1l
|
UTSW |
2 |
166,783,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Cse1l
|
UTSW |
2 |
166,782,008 (GRCm39) |
missense |
probably benign |
|
|
R1114:Cse1l
|
UTSW |
2 |
166,783,123 (GRCm39) |
splice site |
probably benign |
|
|
R1539:Cse1l
|
UTSW |
2 |
166,768,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1721:Cse1l
|
UTSW |
2 |
166,768,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Cse1l
|
UTSW |
2 |
166,782,044 (GRCm39) |
splice site |
probably null |
|
|
R1913:Cse1l
|
UTSW |
2 |
166,764,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Cse1l
|
UTSW |
2 |
166,783,412 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2398:Cse1l
|
UTSW |
2 |
166,770,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4110:Cse1l
|
UTSW |
2 |
166,783,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4195:Cse1l
|
UTSW |
2 |
166,771,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4603:Cse1l
|
UTSW |
2 |
166,786,452 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4686:Cse1l
|
UTSW |
2 |
166,774,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4867:Cse1l
|
UTSW |
2 |
166,768,323 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4942:Cse1l
|
UTSW |
2 |
166,771,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5164:Cse1l
|
UTSW |
2 |
166,786,348 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5475:Cse1l
|
UTSW |
2 |
166,783,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5493:Cse1l
|
UTSW |
2 |
166,783,110 (GRCm39) |
intron |
probably benign |
|
|
R5782:Cse1l
|
UTSW |
2 |
166,770,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5862:Cse1l
|
UTSW |
2 |
166,757,127 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6030:Cse1l
|
UTSW |
2 |
166,761,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6030:Cse1l
|
UTSW |
2 |
166,761,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6913:Cse1l
|
UTSW |
2 |
166,771,797 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7683:Cse1l
|
UTSW |
2 |
166,764,708 (GRCm39) |
missense |
probably benign |
|
|
R7871:Cse1l
|
UTSW |
2 |
166,777,591 (GRCm39) |
splice site |
probably null |
|
|
R8001:Cse1l
|
UTSW |
2 |
166,781,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8057:Cse1l
|
UTSW |
2 |
166,781,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Cse1l
|
UTSW |
2 |
166,785,128 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8347:Cse1l
|
UTSW |
2 |
166,769,505 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8386:Cse1l
|
UTSW |
2 |
166,761,604 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8973:Cse1l
|
UTSW |
2 |
166,785,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Cse1l
|
UTSW |
2 |
166,783,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Cse1l
|
UTSW |
2 |
166,783,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9522:Cse1l
|
UTSW |
2 |
166,776,673 (GRCm39) |
missense |
probably benign |
|
|
R9599:Cse1l
|
UTSW |
2 |
166,783,386 (GRCm39) |
missense |
probably benign |
|
|
R9600:Cse1l
|
UTSW |
2 |
166,757,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTATGGACTAGGCGGTAGGC -3'
(R):5'- CATCACTCAGCTAGGGAAGG -3'
Sequencing Primer
(F):5'- CATGCTCTACAGAGGGAGCTAC -3'
(R):5'- CATCACTCAGCTAGGGAAGGAATGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation