Incidental Mutation 'IGL02060:Cse1l'
| ID |
185367 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1-like (S. cerevisiae) |
| Synonyms |
Capts, Xpo2, 2610100P18Rik, Cas |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
166906040-166946389 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166930653 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 413
(L413F)
|
| 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: L469F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: L469F
| 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: L184F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: L184F
| 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 |
noncoding transcript
Transcript: ENSMUST00000166871
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168599
AA Change: L413F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: L413F
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171410
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
T |
A |
16: 91,055,715 |
I178F |
probably damaging |
Het |
| Aff1 |
T |
C |
5: 103,783,849 |
V111A |
possibly damaging |
Het |
| Aox1 |
T |
G |
1: 58,097,955 |
I1168R |
possibly damaging |
Het |
| Atf6 |
T |
C |
1: 170,819,420 |
R295G |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,514,580 |
|
probably benign |
Het |
| Dip2c |
T |
C |
13: 9,622,630 |
V1024A |
probably damaging |
Het |
| Fam13c |
A |
T |
10: 70,553,141 |
E498V |
probably damaging |
Het |
| Fat4 |
A |
G |
3: 39,010,271 |
E4792G |
probably damaging |
Het |
| Gm5065 |
A |
G |
7: 5,359,564 |
T65A |
probably damaging |
Het |
| Gm5724 |
T |
A |
6: 141,754,408 |
M133L |
probably benign |
Het |
| Gramd1a |
A |
T |
7: 31,130,571 |
L151* |
probably null |
Het |
| Igbp1b |
G |
T |
6: 138,657,984 |
A154E |
probably damaging |
Het |
| Itga9 |
A |
G |
9: 118,661,432 |
K277R |
probably damaging |
Het |
| Klra10 |
T |
C |
6: 130,272,725 |
Y199C |
probably damaging |
Het |
| Mospd3 |
T |
C |
5: 137,600,004 |
Y85C |
probably damaging |
Het |
| Nol6 |
C |
T |
4: 41,117,700 |
A887T |
probably damaging |
Het |
| Olfr1006 |
C |
T |
2: 85,674,834 |
V106I |
probably benign |
Het |
| Olfr1197 |
A |
T |
2: 88,729,563 |
F12Y |
probably damaging |
Het |
| Olfr1427 |
A |
G |
19: 12,099,460 |
Y60H |
probably damaging |
Het |
| Olfr480 |
G |
T |
7: 108,066,671 |
F42L |
probably benign |
Het |
| Pcdhb17 |
A |
G |
18: 37,486,416 |
T420A |
probably damaging |
Het |
| Pgghg |
T |
C |
7: 140,946,633 |
V646A |
probably benign |
Het |
| Prkg2 |
A |
G |
5: 99,024,515 |
S114P |
probably benign |
Het |
| Rela |
G |
T |
19: 5,638,600 |
K28N |
probably damaging |
Het |
| Rhbdf2 |
G |
T |
11: 116,600,626 |
A598E |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,747,564 |
D1454N |
probably damaging |
Het |
| Sdk1 |
C |
T |
5: 141,953,012 |
L397F |
possibly damaging |
Het |
| Sh3pxd2a |
C |
T |
19: 47,373,378 |
|
probably benign |
Het |
| Slc9a2 |
T |
A |
1: 40,756,293 |
V518E |
probably damaging |
Het |
| Snapc1 |
A |
G |
12: 73,968,036 |
Y105C |
probably damaging |
Het |
| Sult2a8 |
A |
G |
7: 14,425,401 |
S98P |
probably damaging |
Het |
| Tmem30c |
T |
A |
16: 57,290,898 |
M4L |
probably benign |
Het |
| Trim71 |
T |
C |
9: 114,513,253 |
I654V |
possibly damaging |
Het |
| Uroc1 |
A |
G |
6: 90,338,255 |
S133G |
probably benign |
Het |
| Vmn2r100 |
A |
G |
17: 19,521,254 |
N76S |
possibly damaging |
Het |
| Zcchc14 |
T |
C |
8: 121,603,895 |
S910G |
probably damaging |
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 |
|
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 |
|
R5164:Cse1l
|
UTSW |
2 |
166944428 |
missense |
probably benign |
0.02 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation