Incidental Mutation 'IGL03375:Cse1l'
| ID |
420470 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1 like |
| Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03375
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 166784977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128376
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000109235]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
| AlphaFold |
Q9ERK4 |
| Predicted Effect |
probably benign
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: 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 |
noncoding transcript
Transcript: ENSMUST00000129061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145819
|
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000163917
|
| 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
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000171410
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172037
|
| Coding Region Coverage |
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
G |
16: 38,423,190 (GRCm39) |
S959P |
probably damaging |
Het |
| Arrb2 |
G |
A |
11: 70,327,005 (GRCm39) |
G24D |
probably damaging |
Het |
| Catsper4 |
A |
G |
4: 133,945,519 (GRCm39) |
I180T |
probably damaging |
Het |
| Chst15 |
G |
A |
7: 131,872,186 (GRCm39) |
Q32* |
probably null |
Het |
| Cntnap5c |
A |
T |
17: 58,469,200 (GRCm39) |
Y594F |
possibly damaging |
Het |
| Dab1 |
A |
T |
4: 104,538,798 (GRCm39) |
I201F |
possibly damaging |
Het |
| Eif2ak4 |
T |
C |
2: 118,252,799 (GRCm39) |
V457A |
probably benign |
Het |
| Fkbp1b |
T |
C |
12: 4,888,220 (GRCm39) |
|
probably benign |
Het |
| Fryl |
C |
A |
5: 73,245,792 (GRCm39) |
V1122F |
possibly damaging |
Het |
| Gas2l2 |
A |
G |
11: 83,317,036 (GRCm39) |
|
probably benign |
Het |
| Gstt2 |
A |
T |
10: 75,668,655 (GRCm39) |
|
probably null |
Het |
| H4c14 |
T |
C |
3: 96,170,458 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hcst |
T |
G |
7: 30,118,036 (GRCm39) |
|
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,466,445 (GRCm39) |
E2420G |
possibly damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,344 (GRCm39) |
S551T |
probably benign |
Het |
| Itgb3bp |
A |
G |
4: 99,657,724 (GRCm39) |
|
probably benign |
Het |
| Krtap6-2 |
A |
G |
16: 89,216,644 (GRCm39) |
Y108H |
unknown |
Het |
| Krtap6-5 |
T |
G |
16: 88,844,740 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,699 (GRCm39) |
T2882A |
possibly damaging |
Het |
| Nup214 |
C |
T |
2: 31,900,233 (GRCm39) |
T854M |
probably damaging |
Het |
| Olfml2b |
A |
G |
1: 170,477,401 (GRCm39) |
K179E |
probably benign |
Het |
| Or10d1b |
A |
G |
9: 39,613,871 (GRCm39) |
S65P |
probably damaging |
Het |
| Or4k37 |
A |
T |
2: 111,159,229 (GRCm39) |
H155L |
probably damaging |
Het |
| Per2 |
A |
T |
1: 91,351,950 (GRCm39) |
I852K |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,187,247 (GRCm39) |
I3687N |
probably damaging |
Het |
| Slc7a2 |
A |
T |
8: 41,369,410 (GRCm39) |
S622C |
probably damaging |
Het |
| Smarcc2 |
G |
A |
10: 128,318,781 (GRCm39) |
V719I |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,972,209 (GRCm39) |
I1033T |
possibly damaging |
Het |
| Tmod1 |
T |
C |
4: 46,096,999 (GRCm39) |
I264T |
probably damaging |
Het |
| Tmtc3 |
G |
A |
10: 100,283,581 (GRCm39) |
A658V |
possibly damaging |
Het |
| Top6bl |
T |
C |
19: 4,748,206 (GRCm39) |
E164G |
probably benign |
Het |
| Tpm3 |
A |
G |
3: 89,981,079 (GRCm39) |
E56G |
possibly damaging |
Het |
| Tra2b |
T |
C |
16: 22,065,993 (GRCm39) |
|
probably benign |
Het |
| Trmu |
T |
A |
15: 85,779,138 (GRCm39) |
Y262N |
possibly damaging |
Het |
| Uox |
C |
T |
3: 146,331,590 (GRCm39) |
T213I |
probably damaging |
Het |
| Vps13d |
A |
G |
4: 144,818,517 (GRCm39) |
W2R |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation