Incidental Mutation 'R0195:Cse1l'
| ID |
23345 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cse1l
|
| Ensembl Gene |
ENSMUSG00000002718 |
| Gene Name |
chromosome segregation 1 like |
| Synonyms |
Cas, Xpo2, Capts, 2610100P18Rik |
| MMRRC Submission |
038454-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166747961-166788309 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 166782008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 661
(S661R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129983
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002790]
[ENSMUST00000163437]
[ENSMUST00000168599]
[ENSMUST00000169290]
|
| AlphaFold |
Q9ERK4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002790
AA Change: S717R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002790
Gene: ENSMUSG00000002718
AA Change: S717R
| 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: ENSMUST00000129061
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163437
AA Change: S404R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126757
Gene: ENSMUSG00000002718
AA Change: S404R
| 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 |
noncoding transcript
Transcript: ENSMUST00000166871
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168599
AA Change: S661R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129983
Gene: ENSMUSG00000002718
AA Change: S661R
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.4%
|
| Validation Efficiency |
98% (156/160) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acly |
C |
G |
11: 100,403,800 (GRCm39) |
R362P |
possibly damaging |
Het |
| Adam24 |
T |
A |
8: 41,134,805 (GRCm39) |
W758R |
probably benign |
Het |
| Adam26b |
G |
T |
8: 43,973,307 (GRCm39) |
T565K |
probably damaging |
Het |
| Adam7 |
T |
G |
14: 68,765,076 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
A |
G |
18: 59,102,942 (GRCm39) |
|
probably benign |
Het |
| Add1 |
A |
G |
5: 34,767,990 (GRCm39) |
|
probably benign |
Het |
| Ago1 |
A |
G |
4: 126,357,484 (GRCm39) |
C64R |
probably benign |
Het |
| Ankrd12 |
C |
T |
17: 66,356,943 (GRCm39) |
|
probably null |
Het |
| Arhgef33 |
A |
G |
17: 80,688,863 (GRCm39) |
K820E |
probably damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,341 (GRCm39) |
V8A |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,406,873 (GRCm39) |
L1920P |
probably damaging |
Het |
| Atad2 |
A |
G |
15: 57,963,350 (GRCm39) |
|
probably benign |
Het |
| Atp2b2 |
A |
T |
6: 113,770,835 (GRCm39) |
V358E |
probably benign |
Het |
| C3ar1 |
A |
C |
6: 122,828,114 (GRCm39) |
C34W |
possibly damaging |
Het |
| C6 |
G |
A |
15: 4,792,953 (GRCm39) |
V353M |
probably benign |
Het |
| Capn7 |
T |
C |
14: 31,087,538 (GRCm39) |
I593T |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,712,319 (GRCm39) |
D119E |
probably damaging |
Het |
| Ccna1 |
T |
A |
3: 54,961,785 (GRCm39) |
E45V |
probably damaging |
Het |
| Cdc37 |
A |
G |
9: 21,053,576 (GRCm39) |
V180A |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,152,838 (GRCm39) |
I2393T |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 18,906,988 (GRCm39) |
|
probably benign |
Het |
| Cngb3 |
A |
T |
4: 19,280,975 (GRCm39) |
M15L |
probably benign |
Het |
| Crygn |
A |
G |
5: 24,961,036 (GRCm39) |
M90T |
possibly damaging |
Het |
| D830013O20Rik |
C |
T |
12: 73,411,095 (GRCm39) |
|
noncoding transcript |
Het |
| Ddx24 |
C |
T |
12: 103,385,220 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,676,998 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
C |
T |
11: 65,786,731 (GRCm39) |
G3634E |
probably benign |
Het |
| Dnttip2 |
A |
T |
3: 122,069,810 (GRCm39) |
T342S |
probably benign |
Het |
| Evx2 |
G |
T |
2: 74,489,388 (GRCm39) |
R125S |
probably damaging |
Het |
| Fbxl5 |
A |
T |
5: 43,928,140 (GRCm39) |
L40Q |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,391,899 (GRCm39) |
D240E |
probably benign |
Het |
| Glp2r |
T |
A |
11: 67,600,534 (GRCm39) |
K438N |
probably damaging |
Het |
| Hivep1 |
T |
A |
13: 42,309,629 (GRCm39) |
I623N |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,443,098 (GRCm39) |
E312G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,130,618 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,333,088 (GRCm39) |
Y1900C |
probably damaging |
Het |
| Krt1c |
G |
A |
15: 101,721,626 (GRCm39) |
Q472* |
probably null |
Het |
| Krtap5-1 |
A |
C |
7: 141,850,434 (GRCm39) |
C125G |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,328,709 (GRCm39) |
S2554P |
probably damaging |
Het |
| Marchf10 |
C |
T |
11: 105,276,351 (GRCm39) |
G646R |
probably damaging |
Het |
| Mrpl48 |
A |
C |
7: 100,195,560 (GRCm39) |
|
probably benign |
Het |
| Myo16 |
A |
T |
8: 10,365,538 (GRCm39) |
|
probably benign |
Het |
| Nrcam |
A |
T |
12: 44,631,628 (GRCm39) |
E1060D |
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,170,709 (GRCm39) |
C731S |
probably damaging |
Het |
| Nup85 |
T |
G |
11: 115,455,357 (GRCm39) |
M1R |
probably null |
Het |
| Nxnl2 |
G |
T |
13: 51,325,483 (GRCm39) |
R42L |
probably damaging |
Het |
| Oas3 |
G |
A |
5: 120,894,210 (GRCm39) |
R39C |
probably damaging |
Het |
| Or13c25 |
G |
A |
4: 52,910,849 (GRCm39) |
T315M |
probably benign |
Het |
| Orc1 |
C |
T |
4: 108,471,505 (GRCm39) |
R786* |
probably null |
Het |
| P2ry6 |
A |
T |
7: 100,587,904 (GRCm39) |
W152R |
probably damaging |
Het |
| Pex5l |
T |
C |
3: 33,047,102 (GRCm39) |
N283D |
possibly damaging |
Het |
| Pgk2 |
T |
C |
17: 40,518,622 (GRCm39) |
I269V |
probably benign |
Het |
| Phgdh |
T |
G |
3: 98,223,866 (GRCm39) |
|
probably benign |
Het |
| Pzp |
A |
T |
6: 128,464,441 (GRCm39) |
L1362Q |
probably damaging |
Het |
| Rbbp9 |
T |
C |
2: 144,390,026 (GRCm39) |
|
probably benign |
Het |
| Rffl |
A |
G |
11: 82,700,989 (GRCm39) |
L244P |
probably damaging |
Het |
| Serpina11 |
T |
C |
12: 103,952,131 (GRCm39) |
Y213C |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,229 (GRCm39) |
Y79C |
possibly damaging |
Het |
| Srsf11 |
A |
G |
3: 157,742,172 (GRCm39) |
|
probably benign |
Het |
| Sspo |
T |
A |
6: 48,463,570 (GRCm39) |
V3785E |
probably benign |
Het |
| Svep1 |
A |
T |
4: 58,089,514 (GRCm39) |
S1632T |
possibly damaging |
Het |
| Tm4sf1 |
T |
A |
3: 57,200,480 (GRCm39) |
D74V |
probably damaging |
Het |
| Tmprss15 |
T |
A |
16: 78,831,222 (GRCm39) |
T393S |
probably benign |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,461 (GRCm39) |
L275P |
probably damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,636 (GRCm39) |
V393A |
probably benign |
Het |
| Tssk2 |
T |
A |
16: 17,717,439 (GRCm39) |
S281T |
probably benign |
Het |
| Tubb4a |
A |
G |
17: 57,388,499 (GRCm39) |
S176P |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,828,654 (GRCm39) |
M785K |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,215,786 (GRCm39) |
D261V |
probably damaging |
Het |
| Vmn1r176 |
G |
T |
7: 23,535,010 (GRCm39) |
Q48K |
probably benign |
Het |
| Vmn2r110 |
A |
T |
17: 20,794,317 (GRCm39) |
L784Q |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,472,045 (GRCm39) |
T783A |
probably benign |
Het |
| Zfp800 |
A |
G |
6: 28,243,846 (GRCm39) |
M373T |
probably damaging |
Het |
| Zmym1 |
A |
G |
4: 126,941,704 (GRCm39) |
F895L |
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 |
|
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 |
|
|
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'- GCCCTTTGTTCCAGAGCCCC -3'
(R):5'- agacgtacttcaacaGCCTCTTACCA -3'
Sequencing Primer
(F):5'- GGGCTGCCACTAACAACTC -3'
(R):5'- tgggaggcagaggcagg -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation