Incidental Mutation 'IGL03036:Csde1'
ID |
408693 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
IGL03036
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 102951155 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 249
(P249S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000199571]
[ENSMUST00000198180]
[ENSMUST00000199420]
[ENSMUST00000199240]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029446
AA Change: P249S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: P249S
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 |
possibly damaging
Transcript: ENSMUST00000195889
AA Change: P120S
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142647 Gene: ENSMUSG00000068823 AA Change: P120S
Domain | Start | End | E-Value | Type |
CSP
|
58 |
119 |
9e-22 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197154
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000197488
AA Change: P218S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: P218S
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: P249S
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: P249S
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
|
Predicted Effect |
unknown
Transcript: ENSMUST00000198174
AA Change: P70S
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000199571
AA Change: P218S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: P218S
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 |
possibly damaging
Transcript: ENSMUST00000198180
AA Change: P218S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: P218S
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 |
possibly damaging
Transcript: ENSMUST00000199420
AA Change: P218S
PolyPhen 2
Score 0.805 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: P218S
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: ENSMUST00000199240
AA Change: P119S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000143050 Gene: ENSMUSG00000068823 AA Change: P119S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198906
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
Brpf3 |
T |
C |
17: 29,043,022 (GRCm39) |
L1021P |
possibly damaging |
Het |
Cep170 |
A |
G |
1: 176,596,903 (GRCm39) |
S485P |
possibly damaging |
Het |
Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
F13b |
A |
G |
1: 139,435,853 (GRCm39) |
I220V |
possibly damaging |
Het |
Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
Hp1bp3 |
G |
A |
4: 137,956,043 (GRCm39) |
G202D |
probably damaging |
Het |
Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
Spmap2l |
A |
C |
5: 77,164,197 (GRCm39) |
K67Q |
possibly damaging |
Het |
Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
probably benign |
Het |
|
Other mutations in Csde1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Csde1
|
APN |
3 |
102,947,841 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01419:Csde1
|
APN |
3 |
102,946,086 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02147:Csde1
|
APN |
3 |
102,947,250 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02161:Csde1
|
APN |
3 |
102,957,654 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02442:Csde1
|
APN |
3 |
102,962,135 (GRCm39) |
missense |
probably benign |
0.20 |
R0526:Csde1
|
UTSW |
3 |
102,963,742 (GRCm39) |
missense |
possibly damaging |
0.76 |
R0727:Csde1
|
UTSW |
3 |
102,950,954 (GRCm39) |
missense |
probably benign |
|
R1738:Csde1
|
UTSW |
3 |
102,936,493 (GRCm39) |
intron |
probably benign |
|
R1744:Csde1
|
UTSW |
3 |
102,957,631 (GRCm39) |
missense |
probably benign |
0.31 |
R2007:Csde1
|
UTSW |
3 |
102,952,107 (GRCm39) |
missense |
probably damaging |
1.00 |
R4665:Csde1
|
UTSW |
3 |
102,954,388 (GRCm39) |
missense |
probably damaging |
1.00 |
R4806:Csde1
|
UTSW |
3 |
102,963,685 (GRCm39) |
unclassified |
probably benign |
|
R5202:Csde1
|
UTSW |
3 |
102,947,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R5298:Csde1
|
UTSW |
3 |
102,954,525 (GRCm39) |
splice site |
probably null |
|
R5429:Csde1
|
UTSW |
3 |
102,960,157 (GRCm39) |
missense |
possibly damaging |
0.75 |
R5896:Csde1
|
UTSW |
3 |
102,947,859 (GRCm39) |
intron |
probably benign |
|
R6076:Csde1
|
UTSW |
3 |
102,948,545 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6093:Csde1
|
UTSW |
3 |
102,960,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R6118:Csde1
|
UTSW |
3 |
102,962,070 (GRCm39) |
missense |
probably benign |
0.45 |
R6213:Csde1
|
UTSW |
3 |
102,947,830 (GRCm39) |
missense |
probably damaging |
1.00 |
R6263:Csde1
|
UTSW |
3 |
102,947,333 (GRCm39) |
missense |
probably benign |
0.05 |
R6653:Csde1
|
UTSW |
3 |
102,960,184 (GRCm39) |
missense |
probably damaging |
1.00 |
R6894:Csde1
|
UTSW |
3 |
102,951,972 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7155:Csde1
|
UTSW |
3 |
102,947,269 (GRCm39) |
missense |
probably damaging |
0.99 |
R8253:Csde1
|
UTSW |
3 |
102,946,037 (GRCm39) |
missense |
probably damaging |
0.98 |
R8270:Csde1
|
UTSW |
3 |
102,946,071 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8307:Csde1
|
UTSW |
3 |
102,946,389 (GRCm39) |
intron |
probably benign |
|
R9036:Csde1
|
UTSW |
3 |
102,950,976 (GRCm39) |
missense |
probably damaging |
1.00 |
R9628:Csde1
|
UTSW |
3 |
102,962,825 (GRCm39) |
missense |
probably benign |
0.05 |
|
Posted On |
2016-08-02 |