Incidental Mutation 'R4195:Cse1l'
| ID |
318523 |
| 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 |
041026-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166906040-166946389 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166929979 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 387
(T387A)
|
| 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: T443A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: T443A
| 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: T158A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: T158A
| 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: T387A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: T387A
| 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
AA Change: D406G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000128376
Gene: ENSMUSG00000002718
AA Change: D406G
| 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
|
| Meta Mutation Damage Score |
0.2756 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acmsd |
T |
G |
1: 127,749,194 |
L152R |
probably damaging |
Het |
| Actg2 |
T |
G |
6: 83,523,173 |
T39P |
probably damaging |
Het |
| Agap1 |
A |
G |
1: 89,834,539 |
E531G |
probably damaging |
Het |
| Alox12b |
A |
G |
11: 69,169,600 |
S661G |
probably benign |
Het |
| Apod |
T |
C |
16: 31,297,574 |
M113V |
probably benign |
Het |
| Atl3 |
A |
G |
19: 7,518,546 |
I171V |
possibly damaging |
Het |
| Atrn |
C |
A |
2: 130,933,412 |
T145K |
probably damaging |
Het |
| Cacna1f |
A |
G |
X: 7,608,930 |
H57R |
probably damaging |
Het |
| Cldn9 |
T |
C |
17: 23,683,174 |
E159G |
probably damaging |
Het |
| Cnnm4 |
C |
A |
1: 36,499,508 |
H590Q |
probably benign |
Het |
| Col19a1 |
G |
A |
1: 24,534,052 |
S213L |
unknown |
Het |
| Eif4enif1 |
T |
C |
11: 3,243,186 |
V675A |
possibly damaging |
Het |
| Fbll1 |
A |
G |
11: 35,797,666 |
S257P |
possibly damaging |
Het |
| Fbll1 |
T |
A |
11: 35,797,872 |
H188L |
possibly damaging |
Het |
| Frem2 |
A |
G |
3: 53,539,268 |
F2360L |
possibly damaging |
Het |
| G3bp2 |
A |
G |
5: 92,055,416 |
S349P |
probably damaging |
Het |
| Gm2396 |
A |
G |
9: 88,917,662 |
|
noncoding transcript |
Het |
| Gm281 |
C |
A |
14: 13,829,772 |
V657L |
probably benign |
Het |
| Gm6569 |
C |
T |
15: 73,836,243 |
P22L |
probably damaging |
Het |
| Itih2 |
T |
C |
2: 10,115,285 |
N314D |
probably damaging |
Het |
| Lman2l |
A |
C |
1: 36,424,941 |
I266M |
probably damaging |
Het |
| Mrps9 |
T |
G |
1: 42,901,094 |
|
probably benign |
Het |
| Mtmr11 |
T |
C |
3: 96,167,891 |
|
probably benign |
Het |
| Neb |
G |
T |
2: 52,271,559 |
R2074S |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,290,835 |
H1226Q |
probably damaging |
Het |
| Nmi |
A |
C |
2: 51,948,620 |
S301A |
probably benign |
Het |
| Olfr266 |
A |
T |
3: 106,822,012 |
C182* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,677,563 |
|
probably benign |
Het |
| Pkd1l1 |
T |
A |
11: 8,909,929 |
I560F |
probably damaging |
Het |
| Polr1e |
T |
C |
4: 45,019,327 |
Y59H |
probably damaging |
Het |
| Slc30a4 |
G |
A |
2: 122,685,270 |
T401M |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,862,985 |
E81G |
probably damaging |
Het |
| Zfp990 |
A |
T |
4: 145,536,977 |
|
probably null |
Het |
| Zzz3 |
A |
G |
3: 152,428,465 |
T387A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATTGATACTAGACGCAGGGCTG -3'
(R):5'- AATTCTCCTCCAGCCCAGAG -3'
Sequencing Primer
(F):5'- CAGGGCTGCTTGTGATCTTGTAC -3'
(R):5'- GTTCTACACAAGTCTCTGCATGAATC -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation