Incidental Mutation 'R5475:Cse1l'
ID |
434003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cse1l
|
Ensembl Gene |
ENSMUSG00000002718 |
Gene Name |
chromosome segregation 1 like |
Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
MMRRC Submission |
043036-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5475 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 166783174 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 684
(S684P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129983
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
AlphaFold |
Q9ERK4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002790
AA Change: S740P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002790 Gene: ENSMUSG00000002718 AA Change: S740P
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: ENSMUST00000129061
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145819
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163437
AA Change: S427P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126757 Gene: ENSMUSG00000002718 AA Change: S427P
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 damaging
Transcript: ENSMUST00000168599
AA Change: S684P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129983 Gene: ENSMUSG00000002718 AA Change: S684P
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 |
noncoding transcript
Transcript: ENSMUST00000166871
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172037
|
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 |
|
Meta Mutation Damage Score |
0.8533 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.4%
- 10x: 95.5%
- 20x: 91.8%
|
Validation Efficiency |
96% (72/75) |
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 |
4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
AA467197 |
A |
G |
2: 122,482,646 (GRCm39) |
K70R |
probably damaging |
Het |
Agr3 |
A |
G |
12: 35,997,539 (GRCm39) |
N83S |
probably benign |
Het |
Alpk2 |
T |
C |
18: 65,440,083 (GRCm39) |
T904A |
probably benign |
Het |
Ank |
A |
T |
15: 27,557,285 (GRCm39) |
K156N |
probably damaging |
Het |
Arsb |
T |
G |
13: 93,998,773 (GRCm39) |
D360E |
probably benign |
Het |
Atg14 |
C |
T |
14: 47,805,793 (GRCm39) |
R24Q |
possibly damaging |
Het |
Cacna1e |
A |
T |
1: 154,601,455 (GRCm39) |
F71I |
possibly damaging |
Het |
Cdc42bpg |
T |
C |
19: 6,361,101 (GRCm39) |
I242T |
probably damaging |
Het |
Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
Col6a6 |
T |
C |
9: 105,651,537 (GRCm39) |
H1158R |
probably null |
Het |
Cyp2c29 |
A |
T |
19: 39,318,731 (GRCm39) |
M404L |
possibly damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dph7 |
A |
T |
2: 24,858,969 (GRCm39) |
|
probably null |
Het |
Dsg1c |
A |
T |
18: 20,415,088 (GRCm39) |
N662Y |
probably damaging |
Het |
Efcab9 |
T |
G |
11: 32,472,862 (GRCm39) |
D195A |
probably damaging |
Het |
Ephb4 |
A |
G |
5: 137,352,701 (GRCm39) |
M95V |
probably benign |
Het |
Fam171a1 |
A |
T |
2: 3,226,334 (GRCm39) |
Y489F |
possibly damaging |
Het |
Fars2 |
T |
C |
13: 36,388,553 (GRCm39) |
I14T |
probably benign |
Het |
Fbxo34 |
T |
C |
14: 47,766,802 (GRCm39) |
V54A |
probably benign |
Het |
Fbxw17 |
T |
C |
13: 50,579,684 (GRCm39) |
I167T |
probably benign |
Het |
Fzd9 |
A |
T |
5: 135,279,123 (GRCm39) |
|
probably null |
Het |
Gm26996 |
T |
A |
6: 130,556,918 (GRCm39) |
|
noncoding transcript |
Het |
Gm4744 |
A |
G |
6: 40,927,388 (GRCm39) |
|
probably benign |
Het |
Gm4744 |
T |
A |
6: 40,927,403 (GRCm39) |
|
probably benign |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Has1 |
C |
A |
17: 18,068,583 (GRCm39) |
R257L |
possibly damaging |
Het |
Hjv |
T |
C |
3: 96,434,599 (GRCm39) |
S113P |
probably benign |
Het |
Hsd17b8 |
C |
T |
17: 34,246,287 (GRCm39) |
|
probably benign |
Het |
Kat2b |
T |
G |
17: 53,970,609 (GRCm39) |
V665G |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,526,311 (GRCm39) |
H276L |
possibly damaging |
Het |
Klhl6 |
A |
T |
16: 19,766,877 (GRCm39) |
C506S |
probably damaging |
Het |
Ldb2 |
T |
C |
5: 44,699,174 (GRCm39) |
Y88C |
probably damaging |
Het |
Lrit1 |
A |
G |
14: 36,776,958 (GRCm39) |
E26G |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,889,541 (GRCm39) |
Y414C |
probably damaging |
Het |
Mfsd5 |
A |
G |
15: 102,188,928 (GRCm39) |
D100G |
probably damaging |
Het |
Micall2 |
T |
A |
5: 139,702,224 (GRCm39) |
S340C |
probably damaging |
Het |
Npsr1 |
T |
C |
9: 24,211,715 (GRCm39) |
I81T |
probably damaging |
Het |
Or2bd2 |
G |
T |
7: 6,443,169 (GRCm39) |
R90L |
probably benign |
Het |
Or2t49 |
A |
G |
11: 58,392,431 (GRCm39) |
V317A |
probably benign |
Het |
Or6x1 |
T |
A |
9: 40,099,005 (GRCm39) |
L198H |
possibly damaging |
Het |
Or8b56 |
T |
A |
9: 38,739,762 (GRCm39) |
F258L |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,080,055 (GRCm39) |
T444A |
probably benign |
Het |
Pea15a |
A |
G |
1: 172,026,809 (GRCm39) |
|
probably null |
Het |
Phc1 |
T |
A |
6: 122,311,051 (GRCm39) |
Q95L |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,084,594 (GRCm39) |
Y361C |
probably damaging |
Het |
Pphln1-ps1 |
A |
T |
16: 13,494,977 (GRCm39) |
R25S |
possibly damaging |
Het |
Rad54l2 |
C |
T |
9: 106,583,057 (GRCm39) |
G787D |
probably damaging |
Het |
Rbm20 |
G |
T |
19: 53,823,136 (GRCm39) |
E578* |
probably null |
Het |
Sipa1l2 |
A |
T |
8: 126,218,334 (GRCm39) |
D334E |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Thumpd1 |
A |
G |
7: 119,319,943 (GRCm39) |
S8P |
probably benign |
Het |
Tnxb |
T |
C |
17: 34,908,567 (GRCm39) |
Y1407H |
probably damaging |
Het |
Trav2 |
T |
A |
14: 52,805,290 (GRCm39) |
V37E |
probably damaging |
Het |
Trav3-1 |
G |
T |
14: 52,818,494 (GRCm39) |
W56L |
probably damaging |
Het |
Usp31 |
A |
T |
7: 121,250,749 (GRCm39) |
L808Q |
probably damaging |
Het |
Vmn1r52 |
C |
T |
6: 90,155,894 (GRCm39) |
A66V |
probably benign |
Het |
Vmn2r105 |
T |
A |
17: 20,455,044 (GRCm39) |
I31L |
probably benign |
Het |
Wdr1 |
C |
T |
5: 38,686,931 (GRCm39) |
G278S |
probably damaging |
Het |
Zbtb2 |
G |
T |
10: 4,319,275 (GRCm39) |
F250L |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCCTATGTGTCTGATACTCAGTC -3'
(R):5'- ACTCTTGATAAACTTGGTGGTCTTG -3'
Sequencing Primer
(F):5'- GTGTCTGATACTCAGTCCACCACAC -3'
(R):5'- AAGATCTGCTTCCTATACTGGTCAAC -3'
|
Posted On |
2016-10-06 |