Incidental Mutation 'R6263:Csde1'
ID |
506810 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
MMRRC Submission |
044437-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6263 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102947333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 95
(H95R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199420]
[ENSMUST00000199571]
[ENSMUST00000199240]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029446
AA Change: H95R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: H95R
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
AA Change: H95R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: H95R
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 benign
Transcript: ENSMUST00000197827
AA Change: H95R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: H95R
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 |
probably benign
Transcript: ENSMUST00000198180
AA Change: H95R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: H95R
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
AA Change: H95R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: H95R
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
AA Change: H95R
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: H95R
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
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200617
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (66/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
A |
G |
19: 8,995,641 (GRCm39) |
I5642V |
probably benign |
Het |
Atp5f1a |
A |
G |
18: 77,866,930 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
A |
3: 36,985,260 (GRCm39) |
N863K |
probably benign |
Het |
Bsn |
A |
T |
9: 107,990,453 (GRCm39) |
F1766L |
probably damaging |
Het |
Ccdc141 |
T |
C |
2: 76,938,807 (GRCm39) |
Q266R |
probably damaging |
Het |
Cdh10 |
T |
A |
15: 18,964,154 (GRCm39) |
D105E |
possibly damaging |
Het |
Clca3a1 |
T |
A |
3: 144,455,539 (GRCm39) |
D418V |
probably damaging |
Het |
Cnnm2 |
C |
A |
19: 46,845,344 (GRCm39) |
T612K |
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,360,735 (GRCm39) |
V55A |
unknown |
Het |
Cpd |
A |
C |
11: 76,737,097 (GRCm39) |
D232E |
probably benign |
Het |
Ctcfl |
T |
A |
2: 172,937,130 (GRCm39) |
H596L |
probably benign |
Het |
Cwc22 |
T |
C |
2: 77,726,515 (GRCm39) |
R855G |
possibly damaging |
Het |
Cwc25 |
A |
G |
11: 97,644,053 (GRCm39) |
Y227H |
probably damaging |
Het |
Cyp2c38 |
G |
A |
19: 39,380,659 (GRCm39) |
P409S |
probably damaging |
Het |
Ddx5 |
A |
G |
11: 106,679,139 (GRCm39) |
S2P |
possibly damaging |
Het |
Dnah2 |
C |
A |
11: 69,348,238 (GRCm39) |
G2570W |
probably damaging |
Het |
Dnajc10 |
T |
A |
2: 80,174,292 (GRCm39) |
V528E |
probably damaging |
Het |
Efcab3 |
G |
A |
11: 104,810,312 (GRCm39) |
D3150N |
unknown |
Het |
Fmo1 |
A |
G |
1: 162,677,629 (GRCm39) |
|
probably null |
Het |
Gpatch1 |
C |
A |
7: 35,002,848 (GRCm39) |
D221Y |
probably damaging |
Het |
Ino80 |
T |
C |
2: 119,213,895 (GRCm39) |
Y1225C |
probably damaging |
Het |
Itga7 |
T |
A |
10: 128,779,955 (GRCm39) |
D501E |
probably benign |
Het |
Lgr4 |
T |
C |
2: 109,842,243 (GRCm39) |
S743P |
possibly damaging |
Het |
Lilra5 |
A |
T |
7: 4,241,360 (GRCm39) |
Y99F |
probably damaging |
Het |
Lmna |
A |
G |
3: 88,410,265 (GRCm39) |
V49A |
probably damaging |
Het |
Lrrc72 |
G |
A |
12: 36,258,603 (GRCm39) |
R267* |
probably null |
Het |
Mapkbp1 |
T |
C |
2: 119,853,772 (GRCm39) |
S1199P |
probably damaging |
Het |
Mmp25 |
G |
A |
17: 23,849,768 (GRCm39) |
A541V |
possibly damaging |
Het |
Myh10 |
A |
T |
11: 68,701,058 (GRCm39) |
N1756Y |
probably damaging |
Het |
Nfe2 |
A |
G |
15: 103,159,378 (GRCm39) |
I31T |
probably damaging |
Het |
Nfe2l1 |
A |
T |
11: 96,708,570 (GRCm39) |
F732I |
probably benign |
Het |
Or4a39 |
C |
G |
2: 89,237,074 (GRCm39) |
M116I |
possibly damaging |
Het |
Or4c12b |
T |
A |
2: 89,647,104 (GRCm39) |
C145S |
probably damaging |
Het |
Or52e19b |
C |
A |
7: 103,032,403 (GRCm39) |
V269F |
possibly damaging |
Het |
Pax6 |
T |
C |
2: 105,523,199 (GRCm39) |
|
probably null |
Het |
Phb1 |
A |
G |
11: 95,568,941 (GRCm39) |
E192G |
probably damaging |
Het |
Plekhn1 |
A |
T |
4: 156,309,650 (GRCm39) |
|
probably null |
Het |
Plxnb2 |
A |
T |
15: 89,046,189 (GRCm39) |
V942E |
probably damaging |
Het |
Potegl |
T |
A |
2: 23,156,745 (GRCm39) |
|
probably benign |
Het |
Rsrc2 |
G |
A |
5: 123,877,751 (GRCm39) |
|
probably benign |
Het |
Septin8 |
G |
A |
11: 53,439,210 (GRCm39) |
C460Y |
probably benign |
Het |
Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
A |
G |
10: 125,130,508 (GRCm39) |
I59T |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,065,365 (GRCm39) |
I172N |
possibly damaging |
Het |
Smg5 |
A |
T |
3: 88,249,208 (GRCm39) |
N40Y |
possibly damaging |
Het |
Smurf1 |
A |
G |
5: 144,818,541 (GRCm39) |
V633A |
probably damaging |
Het |
Snx9 |
T |
C |
17: 5,937,324 (GRCm39) |
V22A |
probably damaging |
Het |
Sox6 |
A |
T |
7: 115,076,295 (GRCm39) |
M741K |
probably damaging |
Het |
Spata31d1d |
T |
C |
13: 59,873,797 (GRCm39) |
Q1246R |
probably benign |
Het |
Sval1 |
A |
G |
6: 41,928,660 (GRCm39) |
E24G |
probably damaging |
Het |
Tas2r124 |
A |
G |
6: 132,731,867 (GRCm39) |
I59V |
probably benign |
Het |
Tmem151b |
T |
A |
17: 45,857,992 (GRCm39) |
T85S |
probably benign |
Het |
Tpr |
T |
A |
1: 150,317,996 (GRCm39) |
|
probably null |
Het |
Trpm6 |
A |
C |
19: 18,831,472 (GRCm39) |
T1446P |
possibly damaging |
Het |
Tsc22d4 |
A |
T |
5: 137,766,441 (GRCm39) |
K502N |
possibly damaging |
Het |
Tssk3 |
C |
T |
4: 129,383,051 (GRCm39) |
S207N |
probably benign |
Het |
Ttbk1 |
G |
T |
17: 46,778,188 (GRCm39) |
P618Q |
probably damaging |
Het |
Ttll6 |
A |
T |
11: 96,047,371 (GRCm39) |
M657L |
probably benign |
Het |
Ubash3a |
T |
A |
17: 31,434,069 (GRCm39) |
I138N |
probably benign |
Het |
Ush2a |
A |
G |
1: 188,090,839 (GRCm39) |
Y490C |
probably damaging |
Het |
Vmn1r82 |
G |
T |
7: 12,039,461 (GRCm39) |
V127F |
probably damaging |
Het |
Vmn2r32 |
A |
T |
7: 7,479,691 (GRCm39) |
S161T |
possibly damaging |
Het |
Wdr49 |
T |
C |
3: 75,388,824 (GRCm39) |
I58M |
possibly damaging |
Het |
Wiz |
A |
T |
17: 32,579,417 (GRCm39) |
|
probably null |
Het |
Wrap53 |
A |
T |
11: 69,453,619 (GRCm39) |
Y324* |
probably null |
Het |
Zfp747 |
A |
C |
7: 126,975,138 (GRCm39) |
|
probably benign |
Het |
Zfp827 |
A |
G |
8: 79,905,702 (GRCm39) |
Y33C |
probably damaging |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAACTCAGATATTACACACCTTAGAGG -3'
(R):5'- AAACCCAAACTGAGTCTTGACCATG -3'
Sequencing Primer
(F):5'- CCTTAGAGGTCAGATGCAAGATGC -3'
(R):5'- GTCAAGAAATGCCAGTGCTTCTG -3'
|
Posted On |
2018-03-15 |