Incidental Mutation 'R8175:Cse1l'
ID |
634271 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cse1l
|
Ensembl Gene |
ENSMUSG00000002718 |
Gene Name |
chromosome segregation 1 like |
Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
MMRRC Submission |
067600-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8175 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 166785128 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000049412]
[ENSMUST00000109235]
[ENSMUST00000109238]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
AlphaFold |
Q9ERK4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002790
|
SMART Domains |
Protein: ENSMUSP00000002790 Gene: ENSMUSG00000002718
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: ENSMUST00000049412
|
SMART Domains |
Protein: ENSMUSP00000042626 Gene: ENSMUSG00000039536
Domain | Start | End | E-Value | Type |
Blast:DSRM
|
1 |
73 |
5e-21 |
BLAST |
DSRM
|
97 |
162 |
9.49e-21 |
SMART |
DSRM
|
199 |
265 |
5.54e-22 |
SMART |
PDB:4DKK|A
|
355 |
469 |
2e-69 |
PDB |
Blast:DSRM
|
401 |
466 |
3e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109235
|
SMART Domains |
Protein: ENSMUSP00000104858 Gene: ENSMUSG00000039536
Domain | Start | End | E-Value | Type |
Blast:DSRM
|
1 |
73 |
5e-21 |
BLAST |
DSRM
|
97 |
162 |
9.49e-21 |
SMART |
DSRM
|
199 |
265 |
5.54e-22 |
SMART |
PDB:4DKK|A
|
355 |
469 |
3e-69 |
PDB |
Blast:DSRM
|
401 |
466 |
3e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109238
|
SMART Domains |
Protein: ENSMUSP00000104861 Gene: ENSMUSG00000039536
Domain | Start | End | E-Value | Type |
Blast:DSRM
|
1 |
73 |
5e-21 |
BLAST |
DSRM
|
97 |
168 |
4.04e-15 |
SMART |
DSRM
|
205 |
271 |
5.54e-22 |
SMART |
Pfam:Staufen_C
|
364 |
475 |
5.9e-51 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000163437
|
SMART Domains |
Protein: ENSMUSP00000126757 Gene: ENSMUSG00000002718
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 null
Transcript: ENSMUST00000168599
|
SMART Domains |
Protein: ENSMUSP00000129983 Gene: ENSMUSG00000002718
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: 99.6%
- 20x: 98.8%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
C |
T |
9: 30,815,952 (GRCm39) |
V635M |
probably damaging |
Het |
Aim2 |
A |
T |
1: 173,282,920 (GRCm39) |
M1L |
possibly damaging |
Het |
Ank3 |
T |
C |
10: 69,729,339 (GRCm39) |
V700A |
unknown |
Het |
Arhgap10 |
T |
C |
8: 78,037,471 (GRCm39) |
T586A |
probably benign |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,849,455 (GRCm39) |
V349I |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,492,170 (GRCm39) |
F569L |
possibly damaging |
Het |
Btbd10 |
T |
A |
7: 112,921,999 (GRCm39) |
|
probably null |
Het |
Capza2 |
G |
A |
6: 17,665,381 (GRCm39) |
D270N |
probably benign |
Het |
Cobll1 |
T |
C |
2: 64,929,575 (GRCm39) |
N584D |
probably benign |
Het |
Coro1c |
T |
A |
5: 113,988,876 (GRCm39) |
I156F |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,350,178 (GRCm39) |
I299T |
probably benign |
Het |
D5Ertd579e |
T |
C |
5: 36,772,814 (GRCm39) |
E527G |
probably damaging |
Het |
Dcbld2 |
T |
C |
16: 58,253,710 (GRCm39) |
L149S |
possibly damaging |
Het |
Ecpas |
C |
T |
4: 58,872,756 (GRCm39) |
V182M |
probably damaging |
Het |
Egflam |
C |
A |
15: 7,241,633 (GRCm39) |
W925L |
probably damaging |
Het |
Ehmt2 |
A |
G |
17: 35,130,396 (GRCm39) |
N1071D |
probably damaging |
Het |
Eif3g |
A |
T |
9: 20,809,026 (GRCm39) |
S93T |
probably damaging |
Het |
Eipr1 |
A |
G |
12: 28,913,106 (GRCm39) |
E269G |
|
Het |
Eng |
C |
A |
2: 32,568,934 (GRCm39) |
T487K |
possibly damaging |
Het |
Epb41l3 |
T |
C |
17: 69,517,361 (GRCm39) |
Y130H |
probably damaging |
Het |
F5 |
A |
T |
1: 164,019,834 (GRCm39) |
R770* |
probably null |
Het |
Fam227a |
A |
G |
15: 79,524,861 (GRCm39) |
F201S |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,930,847 (GRCm39) |
E108K |
probably benign |
Het |
Fcgbpl1 |
T |
A |
7: 27,863,873 (GRCm39) |
C2548* |
probably null |
Het |
Fn1 |
A |
G |
1: 71,638,824 (GRCm39) |
I1971T |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,815,088 (GRCm39) |
F3607Y |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,021 (GRCm39) |
I4585L |
probably benign |
Het |
Gas1 |
T |
C |
13: 60,323,932 (GRCm39) |
N275S |
|
Het |
Hus1b |
A |
G |
13: 31,131,215 (GRCm39) |
V148A |
probably benign |
Het |
Ighmbp2 |
A |
G |
19: 3,316,365 (GRCm39) |
L575P |
possibly damaging |
Het |
Igsf21 |
A |
T |
4: 139,755,542 (GRCm39) |
F371Y |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,488,496 (GRCm39) |
R860G |
probably damaging |
Het |
Jade1 |
G |
T |
3: 41,567,723 (GRCm39) |
R597L |
probably benign |
Het |
Krt4 |
A |
G |
15: 101,828,984 (GRCm39) |
|
probably null |
Het |
Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
Lifr |
A |
G |
15: 7,216,496 (GRCm39) |
T824A |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,353,076 (GRCm39) |
C1307* |
probably null |
Het |
Ndufb10 |
A |
T |
17: 24,943,166 (GRCm39) |
V48E |
possibly damaging |
Het |
Nelfa |
T |
C |
5: 34,079,357 (GRCm39) |
K72R |
possibly damaging |
Het |
Obscn |
C |
T |
11: 58,886,786 (GRCm39) |
V7767I |
unknown |
Het |
Pptc7 |
T |
A |
5: 122,457,882 (GRCm39) |
C284S |
probably benign |
Het |
Pxdc1 |
A |
G |
13: 34,812,798 (GRCm39) |
S218P |
probably damaging |
Het |
Rabep1 |
T |
A |
11: 70,775,755 (GRCm39) |
W110R |
probably damaging |
Het |
Ren1 |
T |
C |
1: 133,282,007 (GRCm39) |
Y79H |
possibly damaging |
Het |
Ripor3 |
T |
C |
2: 167,825,679 (GRCm39) |
S760G |
probably benign |
Het |
Setd1a |
A |
G |
7: 127,395,415 (GRCm39) |
E1327G |
unknown |
Het |
Setd5 |
T |
C |
6: 113,091,874 (GRCm39) |
W232R |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,260,790 (GRCm39) |
H171Q |
probably damaging |
Het |
Smoc1 |
A |
G |
12: 81,214,440 (GRCm39) |
D285G |
probably damaging |
Het |
Taf10 |
T |
C |
7: 105,393,134 (GRCm39) |
Y97C |
probably damaging |
Het |
Tgfbr2 |
G |
A |
9: 115,939,023 (GRCm39) |
S293L |
possibly damaging |
Het |
Tmem181a |
A |
G |
17: 6,346,075 (GRCm39) |
I190V |
probably benign |
Het |
Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
Ube4b |
T |
C |
4: 149,435,973 (GRCm39) |
N716D |
probably benign |
Het |
Unc5d |
T |
A |
8: 29,334,855 (GRCm39) |
K157N |
probably damaging |
Het |
Usp19 |
G |
A |
9: 108,377,377 (GRCm39) |
R1255H |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,238,349 (GRCm39) |
I464F |
probably damaging |
Het |
Zbtb20 |
A |
T |
16: 43,397,443 (GRCm39) |
|
probably benign |
Het |
Zfp790 |
T |
G |
7: 29,529,205 (GRCm39) |
L630R |
possibly 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 |
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 |
R8479:Cse1l
|
UTSW |
2 |
166,763,893 (GRCm39) |
missense |
possibly damaging |
0.95 |
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'- TCACACCACGTCACTAAGTATG -3'
(R):5'- TCATGCTGGAATCCATCAGGG -3'
Sequencing Primer
(F):5'- CTTACTGTCTGAGTATAATGCATGC -3'
(R):5'- CTGGAATCCATCAGGGTTAGG -3'
|
Posted On |
2020-07-13 |