Incidental Mutation 'R6093:Csde1'
ID |
486030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
MMRRC Submission |
044250-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6093 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 102960218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 615
(Y615C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199571]
[ENSMUST00000199240]
[ENSMUST00000199420]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029446
AA Change: Y615C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: Y615C
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: ENSMUST00000196685
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197488
AA Change: Y584C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: Y584C
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: Y615C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: Y615C
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: ENSMUST00000197844
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000198174
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000198180
AA Change: Y584C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: Y584C
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: Y584C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: Y584C
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: Y485C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000143050 Gene: ENSMUSG00000068823 AA Change: Y485C
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 damaging
Transcript: ENSMUST00000199420
AA Change: Y584C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: Y584C
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.4%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4932414N04Rik |
A |
G |
2: 68,490,214 (GRCm39) |
|
probably benign |
Het |
Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
Adgrl3 |
A |
C |
5: 81,794,369 (GRCm39) |
R531S |
probably benign |
Het |
Ahctf1 |
T |
C |
1: 179,590,517 (GRCm39) |
D1252G |
probably benign |
Het |
Ano1 |
T |
C |
7: 144,165,114 (GRCm39) |
N648S |
possibly damaging |
Het |
Antxr2 |
C |
A |
5: 98,178,319 (GRCm39) |
L30F |
probably damaging |
Het |
Apol9a |
T |
A |
15: 77,288,620 (GRCm39) |
N249I |
probably benign |
Het |
Atp2a1 |
A |
G |
7: 126,046,093 (GRCm39) |
V977A |
probably damaging |
Het |
Clmn |
T |
C |
12: 104,738,215 (GRCm39) |
T968A |
probably benign |
Het |
Clstn2 |
A |
T |
9: 97,340,263 (GRCm39) |
I703N |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,475,522 (GRCm39) |
T1051A |
probably benign |
Het |
Dcaf17 |
A |
G |
2: 70,912,356 (GRCm39) |
K314E |
possibly damaging |
Het |
Dnah10 |
A |
T |
5: 124,830,238 (GRCm39) |
I711F |
probably benign |
Het |
Duox1 |
G |
T |
2: 122,177,755 (GRCm39) |
R1513L |
probably benign |
Het |
Exph5 |
A |
G |
9: 53,283,917 (GRCm39) |
T333A |
possibly damaging |
Het |
Fmnl2 |
A |
G |
2: 53,004,880 (GRCm39) |
D658G |
probably damaging |
Het |
Gcgr |
T |
A |
11: 120,428,947 (GRCm39) |
L395Q |
probably damaging |
Het |
Gm10801 |
C |
CGTA |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
Greb1 |
C |
T |
12: 16,734,487 (GRCm39) |
C1501Y |
probably benign |
Het |
Iqgap2 |
A |
G |
13: 95,765,471 (GRCm39) |
V1533A |
probably damaging |
Het |
Kcnc3 |
A |
C |
7: 44,240,932 (GRCm39) |
D208A |
probably benign |
Het |
Kctd14 |
A |
G |
7: 97,104,160 (GRCm39) |
|
probably benign |
Het |
Mcm5 |
C |
A |
8: 75,836,374 (GRCm39) |
D13E |
probably benign |
Het |
Med23 |
A |
G |
10: 24,754,341 (GRCm39) |
I221V |
probably benign |
Het |
Msantd5f6 |
T |
C |
4: 73,320,258 (GRCm39) |
I174V |
probably benign |
Het |
Myo19 |
T |
C |
11: 84,776,535 (GRCm39) |
F64L |
probably damaging |
Het |
Ncapd3 |
T |
G |
9: 26,967,454 (GRCm39) |
S597A |
probably damaging |
Het |
Neb |
A |
T |
2: 52,141,782 (GRCm39) |
Y72* |
probably null |
Het |
Nrip1 |
C |
T |
16: 76,091,652 (GRCm39) |
|
probably benign |
Het |
Or5h26 |
T |
A |
16: 58,988,330 (GRCm39) |
M59L |
probably damaging |
Het |
Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
Phkb |
T |
A |
8: 86,668,958 (GRCm39) |
D328E |
probably damaging |
Het |
Phyh |
G |
T |
2: 4,923,896 (GRCm39) |
A6S |
possibly damaging |
Het |
Pole |
A |
T |
5: 110,459,956 (GRCm39) |
Q1120L |
probably benign |
Het |
Rbmxl1 |
T |
C |
8: 79,232,572 (GRCm39) |
Y257C |
probably damaging |
Het |
Smurf2 |
A |
T |
11: 106,759,449 (GRCm39) |
H69Q |
possibly damaging |
Het |
Tmem167b |
A |
T |
3: 108,469,439 (GRCm39) |
M1K |
probably null |
Het |
Tmod4 |
A |
T |
3: 95,032,929 (GRCm39) |
T22S |
probably benign |
Het |
Triml1 |
T |
C |
8: 43,593,755 (GRCm39) |
I149M |
probably benign |
Het |
Vmn2r108 |
T |
C |
17: 20,701,402 (GRCm39) |
T33A |
probably benign |
Het |
Vmn2r76 |
T |
A |
7: 85,877,469 (GRCm39) |
R525* |
probably null |
Het |
Zfp109 |
A |
T |
7: 23,928,558 (GRCm39) |
W292R |
probably benign |
Het |
Zfp292 |
C |
T |
4: 34,811,902 (GRCm39) |
A381T |
probably damaging |
Het |
Zfp791 |
C |
T |
8: 85,840,135 (GRCm39) |
|
probably null |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCTTGTGCGAACATTGG -3'
(R):5'- AGCATAGTAATCATTTGCTGCTCAG -3'
Sequencing Primer
(F):5'- ACCTTGTGCGAACATTGGGTTTG -3'
(R):5'- GGTGACCTCATTTTCAAGGAGTC -3'
|
Posted On |
2017-08-16 |