Incidental Mutation 'R1744:Csde1'
| ID |
200565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csde1
|
| Ensembl Gene |
ENSMUSG00000068823 |
| Gene Name |
cold shock domain containing E1, RNA binding |
| Synonyms |
unr, D3Jfr1 |
| MMRRC Submission |
039776-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R1744 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102957631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 463
(S463R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199240]
[ENSMUST00000199420]
[ENSMUST00000199571]
|
| AlphaFold |
Q91W50 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029446
AA Change: S494R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: S494R
| 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 |
probably benign
Transcript: ENSMUST00000197488
AA Change: S463R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: S463R
| 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: S494R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: S494R
| 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: ENSMUST00000198174
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198180
AA Change: S463R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: S463R
| 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: S364R
PolyPhen 2
Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: S364R
| 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: S463R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: S463R
| 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: S463R
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: S463R
| 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 |
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
G |
5: 81,942,267 (GRCm39) |
E1247G |
probably damaging |
Het |
| Bcl2l15 |
T |
A |
3: 103,745,856 (GRCm39) |
L165Q |
probably damaging |
Het |
| Cd163 |
C |
A |
6: 124,283,987 (GRCm39) |
A53E |
possibly damaging |
Het |
| Cemip2 |
C |
A |
19: 21,809,501 (GRCm39) |
Y960* |
probably null |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,452,596 (GRCm39) |
A629D |
probably damaging |
Het |
| Cth |
C |
G |
3: 157,611,905 (GRCm39) |
R304P |
probably damaging |
Het |
| D7Ertd443e |
A |
G |
7: 133,951,142 (GRCm39) |
V177A |
probably benign |
Het |
| Ddx56 |
G |
A |
11: 6,216,396 (GRCm39) |
R189W |
probably damaging |
Het |
| Dennd2a |
A |
T |
6: 39,457,185 (GRCm39) |
F752L |
probably benign |
Het |
| Gabrp |
A |
T |
11: 33,522,462 (GRCm39) |
V28E |
probably benign |
Het |
| Gpam |
T |
C |
19: 55,063,023 (GRCm39) |
E763G |
probably damaging |
Het |
| Hars1 |
G |
A |
18: 36,903,885 (GRCm39) |
R266C |
probably benign |
Het |
| Klf7 |
C |
A |
1: 64,118,372 (GRCm39) |
R75L |
possibly damaging |
Het |
| Kmt2d |
T |
C |
15: 98,762,928 (GRCm39) |
K281E |
probably damaging |
Het |
| Lbx1 |
T |
C |
19: 45,222,652 (GRCm39) |
K124E |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 34,019,911 (GRCm39) |
|
probably null |
Het |
| Mab21l2 |
T |
C |
3: 86,454,211 (GRCm39) |
E263G |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,369,646 (GRCm39) |
I140K |
probably damaging |
Het |
| Mcemp1 |
G |
A |
8: 3,716,054 (GRCm39) |
A20T |
probably damaging |
Het |
| Met |
T |
C |
6: 17,540,645 (GRCm39) |
V137A |
possibly damaging |
Het |
| Mgat5 |
T |
C |
1: 127,407,206 (GRCm39) |
F624S |
probably damaging |
Het |
| Nutm2 |
T |
C |
13: 50,623,390 (GRCm39) |
I29T |
probably benign |
Het |
| Ociad1 |
T |
C |
5: 73,458,062 (GRCm39) |
|
probably null |
Het |
| Ogfod2 |
G |
A |
5: 124,252,219 (GRCm39) |
|
probably null |
Het |
| Or6c69 |
A |
C |
10: 129,747,262 (GRCm39) |
V295G |
probably damaging |
Het |
| Or8g4 |
A |
C |
9: 39,661,711 (GRCm39) |
T10P |
probably benign |
Het |
| Otoa |
G |
A |
7: 120,726,999 (GRCm39) |
|
probably benign |
Het |
| Otud3 |
A |
C |
4: 138,623,059 (GRCm39) |
L394R |
probably damaging |
Het |
| Pde5a |
T |
C |
3: 122,541,546 (GRCm39) |
V12A |
probably damaging |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prr27 |
A |
G |
5: 87,990,906 (GRCm39) |
I173V |
possibly damaging |
Het |
| Psg29 |
T |
C |
7: 16,944,278 (GRCm39) |
C263R |
probably damaging |
Het |
| Ptprm |
T |
C |
17: 66,996,361 (GRCm39) |
Y1242C |
probably damaging |
Het |
| Retsat |
C |
T |
6: 72,583,558 (GRCm39) |
R84* |
probably null |
Het |
| Rif1 |
G |
A |
2: 52,002,404 (GRCm39) |
V1953I |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 51,999,475 (GRCm39) |
N1137K |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,152,620 (GRCm39) |
H787R |
probably benign |
Het |
| Sec16a |
T |
C |
2: 26,329,198 (GRCm39) |
E939G |
probably damaging |
Het |
| Sh2d4a |
G |
A |
8: 68,783,807 (GRCm39) |
G247D |
possibly damaging |
Het |
| Siglec1 |
A |
G |
2: 130,923,219 (GRCm39) |
S509P |
probably damaging |
Het |
| Slc25a30 |
A |
G |
14: 76,000,770 (GRCm39) |
I278T |
probably damaging |
Het |
| Slc6a20a |
C |
T |
9: 123,492,058 (GRCm39) |
V104I |
probably benign |
Het |
| Sp110 |
G |
C |
1: 85,522,093 (GRCm39) |
T70S |
probably benign |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Stxbp1 |
A |
G |
2: 32,696,731 (GRCm39) |
|
probably null |
Het |
| Tmem132b |
T |
C |
5: 125,855,908 (GRCm39) |
|
probably null |
Het |
| Tnfsf13b |
G |
A |
8: 10,081,661 (GRCm39) |
|
probably null |
Het |
| Trappc6a |
A |
G |
7: 19,248,154 (GRCm39) |
E38G |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,609 (GRCm39) |
D857G |
probably damaging |
Het |
| Tspear |
T |
A |
10: 77,700,718 (GRCm39) |
|
probably null |
Het |
| Vmn1r23 |
A |
T |
6: 57,902,910 (GRCm39) |
N289K |
possibly damaging |
Het |
| Zcchc8 |
G |
A |
5: 123,838,436 (GRCm39) |
Q701* |
probably null |
Het |
| Zfp618 |
A |
T |
4: 63,004,871 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GGTAAGTGCCACAACCACTAGATACAG -3'
(R):5'- AATAGTTTGCTGCCCAAAAGGCATTC -3'
Sequencing Primer
(F):5'- ACATTGCCTACTTTTTAGACAGC -3'
(R):5'- AAGGCATTCCTTACCTATAGTGG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation