Incidental Mutation 'R6653:Csde1'
ID |
526499 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
MMRRC Submission |
044774-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R6653 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 102960184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 604
(P604T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143503
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199240]
[ENSMUST00000199420]
[ENSMUST00000199571]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029446
AA Change: P604T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: P604T
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: P573T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: P573T
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: P604T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: P604T
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: P573T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: P573T
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: ENSMUST00000199240
AA Change: P474T
PolyPhen 2
Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000143050 Gene: ENSMUSG00000068823 AA Change: P474T
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: P573T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: P573T
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: P573T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: P573T
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: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
G |
7: 119,945,229 (GRCm39) |
L435R |
probably benign |
Het |
Abcc2 |
T |
A |
19: 43,800,941 (GRCm39) |
H627Q |
probably benign |
Het |
Ankhd1 |
A |
T |
18: 36,733,836 (GRCm39) |
|
probably null |
Het |
Ankrd50 |
T |
A |
3: 38,511,510 (GRCm39) |
I286F |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,562,632 (GRCm39) |
N198S |
probably benign |
Het |
B4galnt2 |
T |
A |
11: 95,782,747 (GRCm39) |
M22L |
probably benign |
Het |
Bcdin3d |
T |
C |
15: 99,368,696 (GRCm39) |
T168A |
probably damaging |
Het |
Bmp1 |
A |
T |
14: 70,728,058 (GRCm39) |
W624R |
probably damaging |
Het |
Cdh4 |
C |
T |
2: 179,422,221 (GRCm39) |
A115V |
probably benign |
Het |
Cfap53 |
A |
G |
18: 74,433,280 (GRCm39) |
T122A |
probably damaging |
Het |
Chsy1 |
A |
G |
7: 65,759,941 (GRCm39) |
K95E |
probably benign |
Het |
Cts7 |
A |
T |
13: 61,502,817 (GRCm39) |
L237Q |
probably damaging |
Het |
Cutal |
C |
T |
2: 34,775,933 (GRCm39) |
T88I |
probably benign |
Het |
Dlg4 |
G |
T |
11: 69,914,779 (GRCm39) |
|
probably benign |
Het |
Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
Eif2b4 |
C |
T |
5: 31,349,551 (GRCm39) |
E53K |
possibly damaging |
Het |
Erp44 |
T |
C |
4: 48,205,130 (GRCm39) |
I288V |
probably null |
Het |
Fcamr |
A |
G |
1: 130,740,939 (GRCm39) |
T453A |
possibly damaging |
Het |
Glb1l3 |
T |
C |
9: 26,770,884 (GRCm39) |
T61A |
probably benign |
Het |
Gpr26 |
T |
C |
7: 131,585,830 (GRCm39) |
S267P |
probably benign |
Het |
Heatr6 |
A |
T |
11: 83,650,191 (GRCm39) |
T216S |
probably benign |
Het |
Hephl1 |
C |
T |
9: 14,993,260 (GRCm39) |
V525I |
probably damaging |
Het |
Jak2 |
T |
A |
19: 29,266,110 (GRCm39) |
I517N |
probably benign |
Het |
Kbtbd4 |
T |
A |
2: 90,740,113 (GRCm39) |
Y499* |
probably null |
Het |
Kif1a |
A |
T |
1: 93,005,420 (GRCm39) |
I118N |
probably damaging |
Het |
Klhdc7b |
A |
G |
15: 89,271,292 (GRCm39) |
S725G |
probably benign |
Het |
Mfsd13a |
T |
C |
19: 46,356,305 (GRCm39) |
F137L |
probably damaging |
Het |
Myo7a |
T |
A |
7: 97,703,710 (GRCm39) |
Y1977F |
probably damaging |
Het |
Naip2 |
T |
G |
13: 100,298,352 (GRCm39) |
K561N |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,288,644 (GRCm39) |
V1194I |
probably benign |
Het |
Nkx2-4 |
G |
T |
2: 146,925,860 (GRCm39) |
A334E |
possibly damaging |
Het |
Nlrp9c |
T |
A |
7: 26,070,747 (GRCm39) |
N945Y |
probably damaging |
Het |
Or2z2 |
A |
T |
11: 58,346,394 (GRCm39) |
I127N |
probably damaging |
Het |
Or4e5 |
C |
T |
14: 52,728,250 (GRCm39) |
R57Q |
probably benign |
Het |
Or8g20 |
A |
G |
9: 39,396,048 (GRCm39) |
V164A |
probably benign |
Het |
Pcdha7 |
A |
G |
18: 37,107,539 (GRCm39) |
Q188R |
probably benign |
Het |
Phf3 |
A |
T |
1: 30,844,104 (GRCm39) |
S1618R |
possibly damaging |
Het |
Phip |
C |
A |
9: 82,782,794 (GRCm39) |
E884* |
probably null |
Het |
Plxnc1 |
C |
A |
10: 94,779,738 (GRCm39) |
V235L |
probably damaging |
Het |
Qser1 |
A |
G |
2: 104,610,605 (GRCm39) |
V1226A |
possibly damaging |
Het |
Ros1 |
G |
T |
10: 52,018,299 (GRCm39) |
S786R |
probably damaging |
Het |
Rps6ka5 |
A |
G |
12: 100,517,795 (GRCm39) |
S769P |
probably damaging |
Het |
Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
Specc1 |
T |
G |
11: 62,037,244 (GRCm39) |
S813A |
probably damaging |
Het |
Spry1 |
T |
C |
3: 37,696,871 (GRCm39) |
I38T |
probably damaging |
Het |
Tagap |
T |
C |
17: 8,152,546 (GRCm39) |
V577A |
probably benign |
Het |
Tmem44 |
T |
C |
16: 30,356,369 (GRCm39) |
D110G |
probably damaging |
Het |
Ubn2 |
A |
G |
6: 38,411,397 (GRCm39) |
E97G |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,200,935 (GRCm39) |
H4706Q |
possibly damaging |
Het |
Usp25 |
T |
A |
16: 76,856,176 (GRCm39) |
N256K |
probably benign |
Het |
Vmn2r112 |
T |
A |
17: 22,820,160 (GRCm39) |
L11Q |
probably null |
Het |
Wnt2b |
C |
A |
3: 104,860,502 (GRCm39) |
R135L |
probably damaging |
Het |
Zfp60 |
T |
C |
7: 27,448,151 (GRCm39) |
F273S |
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 |
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 |
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'- AGTCATTGCAGAGTCATTGCATAAC -3'
(R):5'- TATAGAACTAAAGCCTAAGCACAGG -3'
Sequencing Primer
(F):5'- AATTGAAATTCTTGGAAAGTCTGAAC -3'
(R):5'- GCCTAAGCACAGGAGGAGC -3'
|
Posted On |
2018-07-23 |