Incidental Mutation 'R8001:Cse1l'
ID |
616350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cse1l
|
Ensembl Gene |
ENSMUSG00000002718 |
Gene Name |
chromosome segregation 1 like |
Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
MMRRC Submission |
046041-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 166781833 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 659
(F659Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
AlphaFold |
Q9ERK4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002790
AA Change: F659Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000002790 Gene: ENSMUSG00000002718 AA Change: F659Y
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 damaging
Transcript: ENSMUST00000163437
AA Change: F346Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126757 Gene: ENSMUSG00000002718 AA Change: F346Y
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: F603Y
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000129983 Gene: ENSMUSG00000002718 AA Change: F603Y
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acr |
A |
G |
15: 89,458,165 (GRCm39) |
Y282C |
probably damaging |
Het |
Alkbh4 |
A |
G |
5: 136,169,123 (GRCm39) |
R136G |
probably damaging |
Het |
Bptf |
C |
A |
11: 106,938,166 (GRCm39) |
E2* |
probably null |
Het |
Ctrc |
A |
T |
4: 141,567,671 (GRCm39) |
L144Q |
probably damaging |
Het |
Elmo1 |
A |
G |
13: 20,470,902 (GRCm39) |
I265V |
probably benign |
Het |
Erich3 |
T |
C |
3: 154,419,553 (GRCm39) |
S19P |
probably benign |
Het |
Hmcn1 |
A |
T |
1: 150,540,629 (GRCm39) |
C2893* |
probably null |
Het |
Hnrnpll |
G |
A |
17: 80,346,152 (GRCm39) |
Q370* |
probably null |
Het |
Itpkb |
T |
C |
1: 180,160,059 (GRCm39) |
S62P |
probably damaging |
Het |
Lig3 |
T |
A |
11: 82,682,902 (GRCm39) |
C501S |
probably benign |
Het |
Mab21l4 |
A |
G |
1: 93,082,321 (GRCm39) |
L266P |
probably damaging |
Het |
Nrxn1 |
C |
T |
17: 91,395,964 (GRCm39) |
R64H |
possibly damaging |
Het |
Ogfod2 |
T |
G |
5: 124,252,946 (GRCm39) |
C319G |
probably damaging |
Het |
Or51h1 |
A |
T |
7: 102,308,241 (GRCm39) |
D71V |
probably damaging |
Het |
Or5ac19 |
T |
C |
16: 59,089,472 (GRCm39) |
N186S |
probably benign |
Het |
Or5b118 |
A |
G |
19: 13,448,786 (GRCm39) |
I109V |
probably benign |
Het |
Or9k7 |
A |
G |
10: 130,046,729 (GRCm39) |
V90A |
probably benign |
Het |
Pabpc6 |
C |
A |
17: 9,888,302 (GRCm39) |
R83L |
probably damaging |
Het |
Pcdhgb2 |
A |
T |
18: 37,823,687 (GRCm39) |
Q226L |
probably benign |
Het |
Pole |
A |
T |
5: 110,460,600 (GRCm39) |
I1127F |
probably damaging |
Het |
Psg22 |
A |
T |
7: 18,453,671 (GRCm39) |
Q161L |
possibly damaging |
Het |
Slc17a7 |
A |
T |
7: 44,818,212 (GRCm39) |
T46S |
probably benign |
Het |
Smad4 |
A |
G |
18: 73,774,881 (GRCm39) |
S473P |
probably damaging |
Het |
Snap47 |
T |
A |
11: 59,329,180 (GRCm39) |
T41S |
probably benign |
Het |
Snx21 |
T |
C |
2: 164,628,657 (GRCm39) |
L100P |
probably benign |
Het |
Stc1 |
T |
A |
14: 69,275,844 (GRCm39) |
N212K |
probably benign |
Het |
Stk32a |
A |
T |
18: 43,448,209 (GRCm39) |
N396I |
possibly damaging |
Het |
Stox2 |
G |
A |
8: 47,639,512 (GRCm39) |
P894L |
probably benign |
Het |
Trav16d-dv11 |
A |
G |
14: 53,284,744 (GRCm39) |
M1V |
probably null |
Het |
Trim33 |
T |
C |
3: 103,218,831 (GRCm39) |
|
probably null |
Het |
Tyrp1 |
T |
C |
4: 80,758,907 (GRCm39) |
V260A |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,643,261 (GRCm39) |
Y4208H |
probably damaging |
Het |
Vmn1r25 |
T |
A |
6: 57,956,065 (GRCm39) |
K75* |
probably null |
Het |
Vmn2r117 |
T |
A |
17: 23,698,381 (GRCm39) |
N64I |
possibly damaging |
Het |
Wdfy4 |
C |
T |
14: 32,695,492 (GRCm39) |
|
probably null |
Het |
Wnt8a |
A |
T |
18: 34,678,569 (GRCm39) |
I128F |
probably damaging |
Het |
Zc3h7b |
C |
A |
15: 81,663,461 (GRCm39) |
Y484* |
probably null |
Het |
Zfp619 |
A |
G |
7: 39,184,645 (GRCm39) |
K225R |
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 |
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 |
|
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'- TGCAAAGCTAACCCTGCTGC -3'
(R):5'- CAGTTGCTATTGTACTTGAGCC -3'
Sequencing Primer
(F):5'- AAAGCTAACCCTGCTGCTGTTG -3'
(R):5'- CCTCGTTCTAAGAATGCCTGGAG -3'
|
Posted On |
2020-01-23 |