Incidental Mutation 'IGL01100:Csde1'
| ID |
50737 |
| 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: 0.949)
|
| Stock # |
IGL01100
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 102947841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 132
(R132S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199420]
[ENSMUST00000199571]
[ENSMUST00000199240]
|
| AlphaFold |
Q91W50 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029446
AA Change: R132S
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: R132S
| 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 benign
Transcript: ENSMUST00000197488
|
| SMART Domains |
Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
| 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 |
possibly damaging
Transcript: ENSMUST00000197827
AA Change: R132S
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: R132S
| 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 |
probably benign
Transcript: ENSMUST00000198174
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200617
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198180
|
| SMART Domains |
Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
| 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 benign
Transcript: ENSMUST00000199420
|
| SMART Domains |
Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
| 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 benign
Transcript: ENSMUST00000199571
|
| SMART Domains |
Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
| 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 benign
Transcript: ENSMUST00000199240
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
G |
11: 9,224,673 (GRCm39) |
|
probably null |
Het |
| Abca8a |
C |
T |
11: 109,949,249 (GRCm39) |
|
probably null |
Het |
| Acad11 |
A |
G |
9: 103,953,607 (GRCm39) |
T32A |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,679,833 (GRCm39) |
N122K |
probably benign |
Het |
| Arrb1 |
A |
T |
7: 99,236,420 (GRCm39) |
|
probably null |
Het |
| Emilin1 |
A |
G |
5: 31,075,748 (GRCm39) |
H663R |
probably benign |
Het |
| Etaa1 |
A |
G |
11: 17,902,576 (GRCm39) |
|
probably null |
Het |
| Fat3 |
A |
T |
9: 16,286,524 (GRCm39) |
F1000I |
probably damaging |
Het |
| Foxj2 |
T |
C |
6: 122,805,350 (GRCm39) |
L74P |
probably damaging |
Het |
| Gas6 |
C |
T |
8: 13,525,118 (GRCm39) |
V289M |
probably benign |
Het |
| Gm10801 |
A |
T |
2: 98,494,328 (GRCm39) |
Y135F |
probably benign |
Het |
| Ihh |
C |
T |
1: 74,985,601 (GRCm39) |
A295T |
probably damaging |
Het |
| Ip6k2 |
G |
T |
9: 108,682,943 (GRCm39) |
S305I |
probably damaging |
Het |
| Kcnk2 |
A |
G |
1: 189,072,133 (GRCm39) |
V65A |
probably damaging |
Het |
| Kif26b |
G |
A |
1: 178,744,809 (GRCm39) |
C1635Y |
probably benign |
Het |
| Klhdc4 |
G |
A |
8: 122,548,582 (GRCm39) |
Q44* |
probably null |
Het |
| Madd |
C |
A |
2: 90,988,385 (GRCm39) |
R1216L |
probably damaging |
Het |
| Myo15a |
T |
A |
11: 60,401,984 (GRCm39) |
C3076S |
probably damaging |
Het |
| Or1l4 |
A |
T |
2: 37,091,652 (GRCm39) |
H133L |
possibly damaging |
Het |
| Or52e18 |
T |
A |
7: 104,609,202 (GRCm39) |
I246F |
probably benign |
Het |
| Polq |
C |
A |
16: 36,881,474 (GRCm39) |
P934T |
probably benign |
Het |
| Prkaa1 |
A |
T |
15: 5,203,799 (GRCm39) |
K227M |
probably damaging |
Het |
| Psap |
G |
A |
10: 60,135,708 (GRCm39) |
G388S |
probably benign |
Het |
| Repin1 |
A |
G |
6: 48,573,839 (GRCm39) |
E200G |
probably damaging |
Het |
| Samd9l |
C |
A |
6: 3,375,863 (GRCm39) |
S466I |
possibly damaging |
Het |
| Slc5a3 |
A |
G |
16: 91,876,110 (GRCm39) |
|
probably benign |
Het |
| Smg9 |
G |
A |
7: 24,116,376 (GRCm39) |
V314M |
probably damaging |
Het |
| Tktl1 |
G |
A |
X: 73,244,232 (GRCm39) |
R352H |
probably benign |
Het |
| Ube2z |
A |
G |
11: 95,953,849 (GRCm39) |
V123A |
probably damaging |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,049 (GRCm39) |
F35I |
probably benign |
Het |
| Zdhhc18 |
A |
T |
4: 133,340,269 (GRCm39) |
Y293N |
probably damaging |
Het |
|
| Other mutations in Csde1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL03036:Csde1
|
APN |
3 |
102,951,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-06-21 |
Incidental Mutation