Incidental Mutation 'IGL02147:Csde1'
| ID | 281801 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Csde1
|
|---|
| Ensembl Gene |
ENSMUSG00000068823 |
|---|
| Gene Name | cold shock domain containing E1, RNA binding |
|---|
| Synonyms | unr, D3Jfr1 |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.955)
|
|---|
| Stock # | IGL02147
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 3 |
|---|
| Chromosomal Location | 103020426-103058186 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to A
at 103039934 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 67
(D67E)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000143503
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199240]
[ENSMUST00000199420]
[ENSMUST00000199571]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029446
AA Change: D67E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
187 |
248 |
1.52e-19 |
SMART |
|
CSP
|
350 |
413 |
6.22e-16 |
SMART |
|
CSP
|
520 |
582 |
2.86e-15 |
SMART |
|
CSP
|
675 |
738 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
757 |
788 |
3.3e-14 |
PFAM |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195889
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142647
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
58 |
119 |
9e-22 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197154
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197488
AA Change: D67E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
726 |
757 |
1.7e-13 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197827
AA Change: D67E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
187 |
248 |
1.52e-19 |
SMART |
|
CSP
|
350 |
413 |
6.22e-16 |
SMART |
|
CSP
|
520 |
582 |
2.86e-15 |
SMART |
|
CSP
|
675 |
738 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
757 |
788 |
3.3e-14 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197939
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000198174
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198180
AA Change: D67E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198906
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000199240
|
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| SMART Domains |
Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
57 |
118 |
9e-22 |
SMART |
|
CSP
|
220 |
283 |
3.8e-18 |
SMART |
|
CSP
|
390 |
452 |
1.7e-17 |
SMART |
|
CSP
|
545 |
608 |
1.4e-18 |
SMART |
|
Pfam:SUZ-C
|
626 |
659 |
6.2e-13 |
PFAM |
|
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| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199420
AA Change: D67E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199571
AA Change: D67E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: D67E
| Domain | Start | End | E-Value | Type |
|---|
|
CSP
|
27 |
90 |
3.11e-16 |
SMART |
|
CSP
|
156 |
217 |
1.52e-19 |
SMART |
|
CSP
|
319 |
382 |
6.22e-16 |
SMART |
|
CSP
|
489 |
551 |
2.86e-15 |
SMART |
|
CSP
|
644 |
707 |
2.2e-16 |
SMART |
|
Pfam:SUZ-C
|
725 |
758 |
5.4e-16 |
PFAM |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200617
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
C |
19: 24,064,963 |
|
noncoding transcript |
Het |
| Acadsb |
T |
A |
7: 131,425,881 |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,767,719 |
H75R |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 97,961,314 |
I931F |
probably damaging |
Het |
| Cdk5 |
T |
C |
5: 24,420,320 |
N165D |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,408,140 |
Y272F |
probably benign |
Het |
| Dhx34 |
T |
C |
7: 16,204,003 |
H724R |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,260,323 |
D777G |
possibly damaging |
Het |
| Fat3 |
A |
C |
9: 15,995,985 |
V2907G |
probably damaging |
Het |
| Fst |
T |
C |
13: 114,454,360 |
Y290C |
probably damaging |
Het |
| Gm5065 |
T |
A |
7: 5,359,733 |
I121N |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,306,391 |
*336R |
probably null |
Het |
| Igkv4-92 |
C |
T |
6: 68,755,252 |
S46N |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 122,947,835 |
E238K |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,156,936 |
M244V |
possibly damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,508,379 |
F211S |
probably benign |
Het |
| Mib2 |
C |
A |
4: 155,657,687 |
R209L |
probably benign |
Het |
| Msx3 |
C |
A |
7: 140,048,885 |
V39L |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,863,376 |
F129S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 76,909,067 |
S266G |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,703,941 |
L703F |
probably benign |
Het |
| Olfr1093 |
A |
G |
2: 86,786,150 |
N140S |
probably benign |
Het |
| Olfr95 |
T |
A |
17: 37,210,986 |
Y289F |
probably damaging |
Het |
| Pcyt1a |
T |
A |
16: 32,462,098 |
N105K |
probably damaging |
Het |
| Pdhx |
A |
G |
2: 103,030,341 |
|
probably benign |
Het |
| Qpct |
T |
C |
17: 79,070,716 |
V105A |
probably damaging |
Het |
| Ros1 |
A |
C |
10: 52,120,895 |
F1227C |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,886,181 |
V342E |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,762,943 |
|
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,668,162 |
K366M |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,635,703 |
N175D |
probably damaging |
Het |
| Sox14 |
T |
C |
9: 99,875,545 |
K47R |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,245,849 |
I592F |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,864,703 |
M3880T |
probably benign |
Het |
| Usp20 |
T |
C |
2: 31,006,401 |
F172S |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,398,361 |
|
probably benign |
Het |
|
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| Other mutations in Csde1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01100:Csde1
|
APN |
3 |
103040525 |
missense |
possibly damaging |
0.80 |
|
IGL01419:Csde1
|
APN |
3 |
103038770 |
missense |
probably damaging |
1.00 |
|
IGL02161:Csde1
|
APN |
3 |
103050338 |
missense |
probably damaging |
0.99 |
|
IGL02442:Csde1
|
APN |
3 |
103054819 |
missense |
probably benign |
0.20 |
|
IGL03036:Csde1
|
APN |
3 |
103043839 |
missense |
probably damaging |
0.99 |
|
R0526:Csde1
|
UTSW |
3 |
103056426 |
missense |
possibly damaging |
0.76 |
|
R0727:Csde1
|
UTSW |
3 |
103043638 |
missense |
probably benign |
|
|
R1738:Csde1
|
UTSW |
3 |
103029177 |
intron |
probably benign |
|
|
R1744:Csde1
|
UTSW |
3 |
103050315 |
missense |
probably benign |
0.31 |
|
R2007:Csde1
|
UTSW |
3 |
103044791 |
missense |
probably damaging |
1.00 |
|
R4665:Csde1
|
UTSW |
3 |
103047072 |
missense |
probably damaging |
1.00 |
|
R4806:Csde1
|
UTSW |
3 |
103056369 |
unclassified |
probably benign |
|
|
R5202:Csde1
|
UTSW |
3 |
103039934 |
missense |
probably damaging |
1.00 |
|
R5298:Csde1
|
UTSW |
3 |
103047209 |
splice site |
probably null |
|
|
R5429:Csde1
|
UTSW |
3 |
103052841 |
missense |
possibly damaging |
0.75 |
|
R5896:Csde1
|
UTSW |
3 |
103040543 |
intron |
probably benign |
|
|
R6076:Csde1
|
UTSW |
3 |
103041229 |
missense |
possibly damaging |
0.82 |
|
R6093:Csde1
|
UTSW |
3 |
103052902 |
missense |
probably damaging |
1.00 |
|
R6118:Csde1
|
UTSW |
3 |
103054754 |
missense |
probably benign |
0.45 |
|
R6213:Csde1
|
UTSW |
3 |
103040514 |
missense |
probably damaging |
1.00 |
|
R6263:Csde1
|
UTSW |
3 |
103040017 |
missense |
probably benign |
0.05 |
|
R6653:Csde1
|
UTSW |
3 |
103052868 |
missense |
probably damaging |
1.00 |
|
R6894:Csde1
|
UTSW |
3 |
103044656 |
missense |
possibly damaging |
0.56 |
|
R7155:Csde1
|
UTSW |
3 |
103039953 |
missense |
probably damaging |
0.99 |
|
R8253:Csde1
|
UTSW |
3 |
103038721 |
missense |
probably damaging |
0.98 |
|
R8270:Csde1
|
UTSW |
3 |
103038755 |
missense |
possibly damaging |
0.49 |
|
R8307:Csde1
|
UTSW |
3 |
103039073 |
intron |
probably benign |
|
|
|---|
| Posted On | 2015-04-16 |
|---|
