Incidental Mutation 'R5782:Cse1l'
| ID |
447777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1 like |
| Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
| MMRRC Submission |
043379-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5782 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166770921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 314
(I314M)
|
| 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: I370M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: I370M
| 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 |
probably damaging
Transcript: ENSMUST00000163437
AA Change: I85M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: I85M
| 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: ENSMUST00000166871
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168599
AA Change: I314M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: I314M
| 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: I370M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: I370M
| 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
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
T |
17: 33,652,735 (GRCm39) |
Q265L |
probably benign |
Het |
| Adamtsl3 |
T |
A |
7: 82,189,494 (GRCm39) |
|
probably null |
Het |
| Agt |
A |
T |
8: 125,283,870 (GRCm39) |
|
probably null |
Het |
| Ankrd11 |
A |
G |
8: 123,626,756 (GRCm39) |
L142P |
probably damaging |
Het |
| Arhgef19 |
C |
A |
4: 140,983,623 (GRCm39) |
Q719K |
probably damaging |
Het |
| Armh3 |
A |
G |
19: 45,874,466 (GRCm39) |
V569A |
probably benign |
Het |
| Atrnl1 |
G |
T |
19: 57,741,718 (GRCm39) |
W1159L |
possibly damaging |
Het |
| Atxn2 |
T |
C |
5: 121,935,373 (GRCm39) |
Y325H |
probably damaging |
Het |
| Brwd1 |
A |
T |
16: 95,844,243 (GRCm39) |
Y770* |
probably null |
Het |
| Cdc20 |
T |
C |
4: 118,290,239 (GRCm39) |
E474G |
probably benign |
Het |
| Cdk5rap3 |
A |
G |
11: 96,802,412 (GRCm39) |
L254P |
probably benign |
Het |
| Cep83 |
A |
T |
10: 94,584,894 (GRCm39) |
N333I |
probably damaging |
Het |
| Cox4i2 |
A |
C |
2: 152,606,731 (GRCm39) |
D150A |
probably damaging |
Het |
| Cuedc1 |
A |
G |
11: 88,060,858 (GRCm39) |
Y67C |
probably damaging |
Het |
| Cyp2j9 |
C |
T |
4: 96,462,142 (GRCm39) |
V380I |
probably benign |
Het |
| Fancd2 |
A |
G |
6: 113,525,833 (GRCm39) |
N302S |
probably benign |
Het |
| Foxa1 |
T |
A |
12: 57,589,302 (GRCm39) |
H306L |
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,293,260 (GRCm39) |
S204P |
probably damaging |
Het |
| Hspa13 |
C |
A |
16: 75,554,985 (GRCm39) |
R367L |
probably damaging |
Het |
| Kcnk2 |
T |
G |
1: 188,988,776 (GRCm39) |
D267A |
probably damaging |
Het |
| Kctd18 |
A |
G |
1: 57,998,396 (GRCm39) |
Y68H |
probably damaging |
Het |
| Khdc4 |
T |
G |
3: 88,618,985 (GRCm39) |
V563G |
probably damaging |
Het |
| Klf7 |
C |
T |
1: 64,081,570 (GRCm39) |
E253K |
possibly damaging |
Het |
| Lcn12 |
A |
T |
2: 25,383,769 (GRCm39) |
F34I |
probably damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,586,386 (GRCm39) |
R401W |
probably damaging |
Het |
| Lzts1 |
A |
T |
8: 69,593,350 (GRCm39) |
S86T |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,899 (GRCm39) |
I81M |
probably benign |
Het |
| Mtus1 |
T |
A |
8: 41,535,764 (GRCm39) |
I651F |
probably damaging |
Het |
| Myl2 |
T |
A |
5: 122,242,933 (GRCm39) |
F106L |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,154,059 (GRCm39) |
K2351* |
probably null |
Het |
| Or14c45 |
T |
A |
7: 86,176,421 (GRCm39) |
I152N |
probably damaging |
Het |
| Or52e5 |
T |
C |
7: 104,718,956 (GRCm39) |
I94T |
probably damaging |
Het |
| Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
| Parg |
A |
T |
14: 31,996,862 (GRCm39) |
R318* |
probably null |
Het |
| Pcdhga3 |
C |
T |
18: 37,809,353 (GRCm39) |
S602F |
possibly damaging |
Het |
| Pcnx2 |
A |
G |
8: 126,480,223 (GRCm39) |
V2028A |
probably damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,128,824 (GRCm39) |
T3960A |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,759,233 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Psma6 |
A |
G |
12: 55,457,041 (GRCm39) |
N109S |
possibly damaging |
Het |
| Ptpro |
A |
T |
6: 137,376,496 (GRCm39) |
I659F |
possibly damaging |
Het |
| Rap1gds1 |
C |
G |
3: 138,664,840 (GRCm39) |
E288D |
possibly damaging |
Het |
| Reln |
C |
T |
5: 22,223,054 (GRCm39) |
R993K |
probably benign |
Het |
| Saxo1 |
T |
A |
4: 86,364,044 (GRCm39) |
L146F |
probably damaging |
Het |
| Six4 |
A |
G |
12: 73,150,832 (GRCm39) |
V571A |
probably benign |
Het |
| Slc2a10 |
C |
A |
2: 165,356,758 (GRCm39) |
Y139* |
probably null |
Het |
| Slc34a1 |
A |
G |
13: 55,550,501 (GRCm39) |
I66V |
possibly damaging |
Het |
| Slfn8 |
G |
T |
11: 82,907,867 (GRCm39) |
N46K |
probably damaging |
Het |
| Smc6 |
G |
C |
12: 11,340,835 (GRCm39) |
A496P |
probably damaging |
Het |
| Stk31 |
T |
G |
6: 49,446,070 (GRCm39) |
N902K |
probably benign |
Het |
| Stk36 |
T |
A |
1: 74,644,584 (GRCm39) |
Y114N |
possibly damaging |
Het |
| Sult2b1 |
C |
T |
7: 45,380,770 (GRCm39) |
V271M |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,542,246 (GRCm39) |
I1920V |
probably benign |
Het |
| Trbc2 |
A |
G |
6: 41,523,871 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
A |
G |
7: 101,733,186 (GRCm39) |
D419G |
possibly damaging |
Het |
| Trpm7 |
T |
C |
2: 126,639,634 (GRCm39) |
N1654S |
probably benign |
Het |
| Tsku |
A |
T |
7: 98,002,057 (GRCm39) |
D91E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,606,355 (GRCm39) |
R18151S |
probably damaging |
Het |
| Tyr |
C |
T |
7: 87,142,224 (GRCm39) |
C112Y |
probably damaging |
Het |
| Ubash3a |
G |
A |
17: 31,454,477 (GRCm39) |
G435S |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,603,001 (GRCm39) |
I51T |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,949,253 (GRCm39) |
C558S |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,418,269 (GRCm39) |
C2943Y |
unknown |
Het |
| Zfp1002 |
T |
C |
2: 150,097,438 (GRCm39) |
E25G |
probably benign |
Het |
| Zfp267 |
T |
C |
3: 36,219,128 (GRCm39) |
S384P |
possibly damaging |
Het |
| Zfp318 |
TGAAGAAGAAGAAGAAGAAGAAGAAGAAG |
TGAAGAAGAAGAAGAAGAAGAAG |
17: 46,723,440 (GRCm39) |
|
probably benign |
Het |
| Zfp575 |
C |
A |
7: 24,285,027 (GRCm39) |
G205C |
possibly damaging |
Het |
| Zfp740 |
G |
T |
15: 102,116,801 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
A |
G |
3: 152,133,737 (GRCm39) |
E265G |
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 |
|
|
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'- TACTGCTGCAGTCACAGTG -3'
(R):5'- GGCCAGAAGTCAATGTGAGC -3'
Sequencing Primer
(F):5'- CTGCTGCAGTCACAGTGAAAGAC -3'
(R):5'- GCCAGAAGTCAATGTGAGCATCTTC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation