Incidental Mutation 'R6118:Csde1'
ID |
485199 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
MMRRC Submission |
044267-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6118 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 102962070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 627
(V627E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029445]
[ENSMUST00000029446]
[ENSMUST00000128264]
[ENSMUST00000196355]
[ENSMUST00000197488]
[ENSMUST00000197678]
[ENSMUST00000199571]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199240]
[ENSMUST00000199420]
[ENSMUST00000200069]
[ENSMUST00000200457]
[ENSMUST00000199049]
[ENSMUST00000199367]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029445
|
SMART Domains |
Protein: ENSMUSP00000029445 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029446
AA Change: V658E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: V658E
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: ENSMUST00000128264
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196355
|
SMART Domains |
Protein: ENSMUSP00000142438 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196685
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197488
AA Change: V627E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: V627E
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: ENSMUST00000197678
|
SMART Domains |
Protein: ENSMUSP00000142603 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
150 |
4.08e-102 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199571
AA Change: V627E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: V627E
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: ENSMUST00000197827
AA Change: V658E
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: V658E
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: ENSMUST00000198180
AA Change: V627E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: V627E
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
AA Change: V528E
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000143050 Gene: ENSMUSG00000068823 AA Change: V528E
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 |
probably benign
Transcript: ENSMUST00000199420
AA Change: V627E
PolyPhen 2
Score 0.450 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: V627E
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: ENSMUST00000197844
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199776
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198174
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200069
|
SMART Domains |
Protein: ENSMUSP00000143391 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200457
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199049
|
SMART Domains |
Protein: ENSMUSP00000143644 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
5.3e-123 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199367
|
SMART Domains |
Protein: ENSMUSP00000143620 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
small_GTPase
|
1 |
74 |
1.2e-22 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
T |
G |
10: 10,307,035 (GRCm39) |
K316N |
probably damaging |
Het |
Als2 |
A |
T |
1: 59,242,228 (GRCm39) |
V609E |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,830,231 (GRCm39) |
I71V |
probably damaging |
Het |
Antxr2 |
T |
A |
5: 98,097,060 (GRCm39) |
D351V |
probably damaging |
Het |
Arel1 |
A |
G |
12: 84,988,713 (GRCm39) |
V12A |
possibly damaging |
Het |
Atad1 |
C |
T |
19: 32,664,697 (GRCm39) |
R239H |
possibly damaging |
Het |
B3galnt2 |
A |
G |
13: 14,166,094 (GRCm39) |
T330A |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,362,600 (GRCm39) |
I636N |
probably damaging |
Het |
C1qtnf6 |
T |
C |
15: 78,409,595 (GRCm39) |
D84G |
probably damaging |
Het |
Ceacam20 |
T |
C |
7: 19,705,654 (GRCm39) |
V215A |
possibly damaging |
Het |
Chtf18 |
C |
T |
17: 25,938,133 (GRCm39) |
D967N |
probably damaging |
Het |
Cntnap2 |
T |
A |
6: 47,170,011 (GRCm39) |
I1159K |
possibly damaging |
Het |
Col2a1 |
T |
C |
15: 97,896,448 (GRCm39) |
D67G |
unknown |
Het |
Epb41l1 |
G |
A |
2: 156,364,397 (GRCm39) |
E969K |
probably benign |
Het |
Fam53c |
A |
C |
18: 34,901,743 (GRCm39) |
E220A |
probably damaging |
Het |
Gabbr2 |
C |
T |
4: 46,736,459 (GRCm39) |
R474Q |
probably damaging |
Het |
H2bc18 |
T |
A |
3: 96,177,267 (GRCm39) |
V67E |
probably damaging |
Het |
Hap1 |
G |
T |
11: 100,246,620 (GRCm39) |
T95N |
probably benign |
Het |
Jmjd1c |
A |
G |
10: 67,075,791 (GRCm39) |
K1886R |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,503,717 (GRCm39) |
D1007G |
probably damaging |
Het |
Mcm2 |
C |
T |
6: 88,864,818 (GRCm39) |
A553T |
probably damaging |
Het |
Memo1 |
T |
C |
17: 74,509,302 (GRCm39) |
Y239C |
possibly damaging |
Het |
Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
Mptx2 |
G |
A |
1: 173,102,414 (GRCm39) |
L92F |
probably benign |
Het |
Obsl1 |
A |
G |
1: 75,468,722 (GRCm39) |
|
probably benign |
Het |
Or4c107 |
T |
A |
2: 88,789,462 (GRCm39) |
Y217* |
probably null |
Het |
Or8k35 |
T |
A |
2: 86,424,758 (GRCm39) |
H138L |
probably benign |
Het |
Pold3 |
A |
G |
7: 99,745,614 (GRCm39) |
S180P |
possibly damaging |
Het |
Rbm12b2 |
T |
C |
4: 12,095,135 (GRCm39) |
S665P |
probably benign |
Het |
Rfc4 |
A |
T |
16: 22,939,693 (GRCm39) |
S86T |
probably damaging |
Het |
Rfx6 |
T |
A |
10: 51,587,962 (GRCm39) |
N277K |
possibly damaging |
Het |
Ryr2 |
C |
A |
13: 11,807,575 (GRCm39) |
V865F |
possibly damaging |
Het |
Skint4 |
T |
A |
4: 111,977,019 (GRCm39) |
|
probably null |
Het |
Slc38a10 |
T |
C |
11: 120,023,669 (GRCm39) |
Y249C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,603,236 (GRCm39) |
T206A |
probably benign |
Het |
Slco3a1 |
C |
T |
7: 73,968,254 (GRCm39) |
D489N |
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tbc1d1 |
C |
T |
5: 64,441,380 (GRCm39) |
L655F |
probably damaging |
Het |
Tpp2 |
A |
T |
1: 43,979,306 (GRCm39) |
I68F |
probably damaging |
Het |
Trim30c |
G |
T |
7: 104,031,288 (GRCm39) |
T509K |
probably benign |
Het |
Zfp827 |
G |
T |
8: 79,803,067 (GRCm39) |
K546N |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCTAGATTGCCACCTGG -3'
(R):5'- TATCCCTTGTCCCAAAGCAATAAAG -3'
Sequencing Primer
(F):5'- GCTTGTTTCCATGTTAATCTTTAAGG -3'
(R):5'- CCAGTACTCAAGAGGGTGAATTCC -3'
|
Posted On |
2017-08-16 |