Incidental Mutation 'R5298:Csde1'
| ID |
405522 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csde1
|
| Ensembl Gene |
ENSMUSG00000068823 |
| Gene Name |
cold shock domain containing E1, RNA binding |
| Synonyms |
unr, D3Jfr1 |
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
| Type of Mutation |
splice site (31 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 102954525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000197827]
[ENSMUST00000199420]
[ENSMUST00000199420]
[ENSMUST00000199240]
[ENSMUST00000199571]
[ENSMUST00000199571]
[ENSMUST00000198180]
|
| AlphaFold |
Q91W50 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000029446
|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
| 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: ENSMUST00000196685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197154
|
| Predicted Effect |
probably null
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 |
probably null
Transcript: ENSMUST00000197827
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
| 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 null
Transcript: ENSMUST00000197827
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
| 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 |
noncoding transcript
Transcript: ENSMUST00000200617
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198174
|
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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 null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
| Zfp507 |
T |
C |
7: 35,475,421 (GRCm39) |
N931D |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGCCCAAAGAAATCATGC -3'
(R):5'- CAGTCCACTATCATCATGGCTG -3'
Sequencing Primer
(F):5'- CTGCCCAAAGAAATCATGCTATTAGG -3'
(R):5'- GAGATCTCCGAGTTCAAGGTCATC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation