Incidental Mutation 'R5164:Cse1l'
| ID |
395580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1-like (S. cerevisiae) |
| Synonyms |
Capts, Xpo2, 2610100P18Rik, Cas |
| MMRRC Submission |
042745-MU
|
| Accession Numbers |
|
| Is this an essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166906040-166946389 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 166944428 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 826
(D826E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000049412]
[ENSMUST00000109235]
[ENSMUST00000109236]
[ENSMUST00000109238]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
[ENSMUST00000184390]
|
| AlphaFold |
Q9ERK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002790
AA Change: D882E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: D882E
| 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: ENSMUST00000049412
|
| SMART Domains |
Protein: ENSMUSP00000042626
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 |
2e-69 |
PDB |
|
Blast:DSRM
|
401 |
466 |
3e-15 |
BLAST |
|
| 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 |
probably benign
Transcript: ENSMUST00000109236
|
| SMART Domains |
Protein: ENSMUSP00000104859
Gene: ENSMUSG00000039536
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSRM
|
1 |
73 |
4e-21 |
BLAST |
|
DSRM
|
97 |
162 |
9.49e-21 |
SMART |
|
DSRM
|
197 |
263 |
5.54e-22 |
SMART |
|
PDB:4DKK|A
|
353 |
467 |
3e-69 |
PDB |
|
Blast:DSRM
|
399 |
464 |
3e-15 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109238
|
| SMART Domains |
Protein: ENSMUSP00000104861
Gene: ENSMUSG00000039536
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSRM
|
1 |
73 |
5e-21 |
BLAST |
|
DSRM
|
97 |
168 |
4.04e-15 |
SMART |
|
DSRM
|
205 |
271 |
5.54e-22 |
SMART |
|
Pfam:Staufen_C
|
364 |
475 |
5.9e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142481
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145819
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149454
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163437
AA Change: D569E
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: D569E
| 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
AA Change: D826E
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: D826E
| 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: 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184390
|
| SMART Domains |
Protein: ENSMUSP00000139039
Gene: ENSMUSG00000039536
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DSRM
|
1 |
73 |
4e-21 |
BLAST |
|
DSRM
|
97 |
168 |
4.04e-15 |
SMART |
|
DSRM
|
205 |
271 |
5.54e-22 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (49/50) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,435,674 |
H4637Q |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,142,466 |
H2221R |
probably benign |
Het |
| Arsj |
A |
T |
3: 126,438,159 |
M185L |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,758,562 |
T313A |
unknown |
Het |
| Cdkal1 |
A |
T |
13: 29,625,719 |
L214H |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,481,389 |
I1830N |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,926,516 |
K445R |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,394,132 |
I299N |
probably damaging |
Het |
| Cwf19l2 |
T |
C |
9: 3,475,511 |
V816A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,408,292 |
E3474D |
probably benign |
Het |
| Dock5 |
A |
T |
14: 67,817,661 |
Y585* |
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,390,521 |
S322P |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,945,672 |
E267G |
possibly damaging |
Het |
| Fam126b |
T |
C |
1: 58,535,438 |
T315A |
probably benign |
Het |
| Fkbp5 |
A |
G |
17: 28,437,990 |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,136,877 |
K49* |
probably null |
Het |
| Gm13212 |
T |
C |
4: 145,622,205 |
Y71H |
probably damaging |
Het |
| Gramd4 |
A |
T |
15: 86,100,831 |
T98S |
probably benign |
Het |
| H2-Ke6 |
A |
G |
17: 34,026,978 |
|
probably benign |
Het |
| Hectd1 |
C |
A |
12: 51,827,489 |
M1I |
probably null |
Het |
| Igkv4-80 |
A |
C |
6: 69,016,665 |
S81A |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,714,680 |
|
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,914,881 |
V88E |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 84,913,518 |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,759,011 |
|
probably null |
Het |
| Nrd1 |
C |
T |
4: 109,039,717 |
T511I |
probably damaging |
Het |
| Olfr1058 |
T |
C |
2: 86,385,471 |
T316A |
probably benign |
Het |
| Olfr1204 |
T |
A |
2: 88,852,570 |
L207I |
probably benign |
Het |
| Olfr478 |
G |
A |
7: 108,032,280 |
T21I |
possibly damaging |
Het |
| Pms1 |
A |
G |
1: 53,207,640 |
V301A |
probably damaging |
Het |
| Pnisr |
A |
T |
4: 21,859,237 |
Q144L |
possibly damaging |
Het |
| Pp2d1 |
G |
T |
17: 53,508,070 |
T542K |
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,302,644 |
C922S |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,100,758 |
|
probably null |
Het |
| Runx3 |
T |
C |
4: 135,121,130 |
S9P |
possibly damaging |
Het |
| Serpina1b |
A |
G |
12: 103,732,087 |
S168P |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,157,272 |
A722V |
probably damaging |
Het |
| Slc23a2 |
T |
A |
2: 132,075,450 |
|
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,353,060 |
|
probably null |
Het |
| Tcf20 |
A |
G |
15: 82,856,603 |
S216P |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,102,001 |
I104N |
probably damaging |
Het |
| Ttc25 |
G |
A |
11: 100,571,520 |
W506* |
probably null |
Het |
| Ufm1 |
A |
C |
3: 53,857,927 |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,213,109 |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,218,180 |
S1008P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,183,513 |
V6A |
possibly damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,777,026 |
S752R |
probably benign |
Het |
|
| Other mutations in Cse1l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00420:Cse1l
|
APN |
2 |
166927804 |
missense |
probably damaging |
1.00 |
|
IGL01306:Cse1l
|
APN |
2 |
166927508 |
nonsense |
probably null |
|
|
IGL01672:Cse1l
|
APN |
2 |
166929967 |
missense |
probably damaging |
1.00 |
|
IGL02060:Cse1l
|
APN |
2 |
166930653 |
missense |
probably damaging |
1.00 |
|
IGL02897:Cse1l
|
APN |
2 |
166919708 |
missense |
possibly damaging |
0.47 |
|
IGL03375:Cse1l
|
APN |
2 |
166943057 |
splice site |
probably benign |
|
|
ANU23:Cse1l
|
UTSW |
2 |
166927508 |
nonsense |
probably null |
|
|
PIT4585001:Cse1l
|
UTSW |
2 |
166941474 |
missense |
probably damaging |
1.00 |
|
R0195:Cse1l
|
UTSW |
2 |
166940088 |
missense |
probably benign |
|
|
R1114:Cse1l
|
UTSW |
2 |
166941203 |
splice site |
probably benign |
|
|
R1539:Cse1l
|
UTSW |
2 |
166926372 |
missense |
probably benign |
0.00 |
|
R1721:Cse1l
|
UTSW |
2 |
166926411 |
missense |
probably damaging |
1.00 |
|
R1779:Cse1l
|
UTSW |
2 |
166940124 |
splice site |
probably null |
|
|
R1913:Cse1l
|
UTSW |
2 |
166922191 |
missense |
probably damaging |
1.00 |
|
R2069:Cse1l
|
UTSW |
2 |
166941492 |
missense |
probably benign |
0.01 |
|
R2398:Cse1l
|
UTSW |
2 |
166928997 |
missense |
probably damaging |
1.00 |
|
R4110:Cse1l
|
UTSW |
2 |
166942050 |
missense |
probably benign |
0.00 |
|
R4195:Cse1l
|
UTSW |
2 |
166929979 |
missense |
probably damaging |
1.00 |
|
R4603:Cse1l
|
UTSW |
2 |
166944532 |
missense |
probably benign |
0.09 |
|
R4686:Cse1l
|
UTSW |
2 |
166932160 |
missense |
probably damaging |
1.00 |
|
R4867:Cse1l
|
UTSW |
2 |
166926403 |
missense |
possibly damaging |
0.76 |
|
R4942:Cse1l
|
UTSW |
2 |
166929794 |
missense |
probably damaging |
1.00 |
|
R5475:Cse1l
|
UTSW |
2 |
166941254 |
missense |
probably damaging |
1.00 |
|
R5493:Cse1l
|
UTSW |
2 |
166941190 |
intron |
probably benign |
|
|
R5782:Cse1l
|
UTSW |
2 |
166929001 |
missense |
probably damaging |
1.00 |
|
R5862:Cse1l
|
UTSW |
2 |
166915207 |
missense |
probably benign |
0.00 |
|
R6030:Cse1l
|
UTSW |
2 |
166919621 |
missense |
probably benign |
0.01 |
|
R6030:Cse1l
|
UTSW |
2 |
166919621 |
missense |
probably benign |
0.01 |
|
R6913:Cse1l
|
UTSW |
2 |
166929877 |
missense |
possibly damaging |
0.65 |
|
R7683:Cse1l
|
UTSW |
2 |
166922788 |
missense |
probably benign |
|
|
R7871:Cse1l
|
UTSW |
2 |
166935671 |
splice site |
probably null |
|
|
R8001:Cse1l
|
UTSW |
2 |
166939913 |
missense |
probably damaging |
1.00 |
|
R8057:Cse1l
|
UTSW |
2 |
166939925 |
missense |
probably damaging |
1.00 |
|
R8175:Cse1l
|
UTSW |
2 |
166943208 |
critical splice donor site |
probably null |
|
|
R8347:Cse1l
|
UTSW |
2 |
166927585 |
missense |
possibly damaging |
0.95 |
|
R8386:Cse1l
|
UTSW |
2 |
166919684 |
missense |
probably benign |
0.00 |
|
R8479:Cse1l
|
UTSW |
2 |
166921973 |
missense |
possibly damaging |
0.95 |
|
R8973:Cse1l
|
UTSW |
2 |
166943080 |
missense |
probably damaging |
1.00 |
|
R9206:Cse1l
|
UTSW |
2 |
166941265 |
missense |
probably damaging |
1.00 |
|
R9208:Cse1l
|
UTSW |
2 |
166941265 |
missense |
probably damaging |
1.00 |
|
R9522:Cse1l
|
UTSW |
2 |
166934753 |
missense |
probably benign |
|
|
R9599:Cse1l
|
UTSW |
2 |
166941466 |
missense |
probably benign |
|
|
R9600:Cse1l
|
UTSW |
2 |
166915199 |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGCATTTTATTCAGTAACGCAG -3'
(R):5'- GGACAAGCAGTTGACAGTTTG -3'
Sequencing Primer
(F):5'- TTACTGAGTAGCATTGGGGAACTCAC -3'
(R):5'- CAAGCAGTTGACAGTTTGTGAAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation