Incidental Mutation 'IGL01672:Cse1l'
ID |
103538 |
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 # |
IGL01672
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 166771887 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 402
(I402T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128376
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
AlphaFold |
Q9ERK4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002790
AA Change: S439P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002790 Gene: ENSMUSG00000002718 AA Change: S439P
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 |
noncoding transcript
Transcript: ENSMUST00000132402
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135139
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145819
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163437
AA Change: S154P
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000126757 Gene: ENSMUSG00000002718 AA Change: S154P
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 damaging
Transcript: ENSMUST00000168599
AA Change: S383P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129983 Gene: ENSMUSG00000002718 AA Change: S383P
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 damaging
Transcript: ENSMUST00000169290
AA Change: I402T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000128376 Gene: ENSMUSG00000002718 AA Change: I402T
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166871
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
Clptm1l |
G |
A |
13: 73,755,992 (GRCm39) |
|
probably null |
Het |
Cpb1 |
T |
A |
3: 20,329,585 (GRCm39) |
Q47L |
probably null |
Het |
Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
Nol8 |
T |
C |
13: 49,828,883 (GRCm39) |
V1047A |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
Relb |
T |
A |
7: 19,345,619 (GRCm39) |
H406L |
probably benign |
Het |
Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
Samd3 |
A |
T |
10: 26,146,067 (GRCm39) |
N364I |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
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 |
|
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 |
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 |
2014-01-21 |