Incidental Mutation 'R2007:Csde1'
| ID |
222462 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csde1
|
| Ensembl Gene |
ENSMUSG00000068823 |
| Gene Name |
cold shock domain containing E1, RNA binding |
| Synonyms |
unr, D3Jfr1 |
| MMRRC Submission |
040016-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.949)
|
| Stock # |
R2007 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102952107 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 204
(I204L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143050
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029446]
[ENSMUST00000195889]
[ENSMUST00000197488]
[ENSMUST00000197827]
[ENSMUST00000199420]
[ENSMUST00000199240]
[ENSMUST00000198180]
[ENSMUST00000199571]
|
| AlphaFold |
Q91W50 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029446
AA Change: I334L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029446
Gene: ENSMUSG00000068823
AA Change: I334L
| 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: ENSMUST00000197154
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197488
AA Change: I303L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143524
Gene: ENSMUSG00000068823
AA Change: I303L
| 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: I334L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000143503
Gene: ENSMUSG00000068823
AA Change: I334L
| 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 |
silent
Transcript: ENSMUST00000198174
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199420
AA Change: I303L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142703
Gene: ENSMUSG00000068823
AA Change: I303L
| 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: I204L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143050
Gene: ENSMUSG00000068823
AA Change: I204L
| 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: ENSMUST00000198180
AA Change: I303L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000142983
Gene: ENSMUSG00000068823
AA Change: I303L
| 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: I303L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143028
Gene: ENSMUSG00000068823
AA Change: I303L
| 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: ENSMUST00000198906
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200617
|
| Meta Mutation Damage Score |
0.4372 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
96% (66/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,519,855 (GRCm39) |
N1387K |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,141,987 (GRCm39) |
F8L |
probably benign |
Het |
| Abcg5 |
G |
T |
17: 84,977,348 (GRCm39) |
L270M |
probably damaging |
Het |
| Acad10 |
A |
G |
5: 121,772,814 (GRCm39) |
L489S |
probably damaging |
Het |
| Acsf2 |
G |
A |
11: 94,462,466 (GRCm39) |
T183I |
possibly damaging |
Het |
| Adamts7 |
A |
T |
9: 90,059,909 (GRCm39) |
E282V |
probably damaging |
Het |
| Adcy4 |
C |
T |
14: 56,015,770 (GRCm39) |
G440R |
possibly damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,923 (GRCm39) |
V24I |
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,925,634 (GRCm39) |
I320T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,665 (GRCm39) |
Q247L |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,436,875 (GRCm39) |
V811G |
probably damaging |
Het |
| Bard1 |
C |
T |
1: 71,070,562 (GRCm39) |
V641I |
probably benign |
Het |
| Calb2 |
T |
C |
8: 110,894,702 (GRCm39) |
E23G |
probably benign |
Het |
| Cdkl4 |
A |
G |
17: 80,863,730 (GRCm39) |
|
probably benign |
Het |
| Cep85l |
A |
G |
10: 53,154,171 (GRCm39) |
|
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,118,616 (GRCm39) |
I728V |
probably benign |
Het |
| Chd1 |
G |
T |
17: 15,951,268 (GRCm39) |
G281V |
probably damaging |
Het |
| Col17a1 |
C |
T |
19: 47,656,141 (GRCm39) |
G586E |
probably damaging |
Het |
| Cpne3 |
T |
A |
4: 19,553,833 (GRCm39) |
D66V |
probably damaging |
Het |
| Dchs1 |
A |
T |
7: 105,404,532 (GRCm39) |
V2670E |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,124,578 (GRCm39) |
V428A |
probably benign |
Het |
| Dgkh |
T |
A |
14: 78,840,489 (GRCm39) |
D530V |
probably benign |
Het |
| Dis3l |
A |
T |
9: 64,215,558 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
G |
1: 34,265,093 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,798,814 (GRCm39) |
|
probably null |
Het |
| En1 |
A |
T |
1: 120,531,133 (GRCm39) |
E124D |
probably benign |
Het |
| Exo1 |
G |
A |
1: 175,736,096 (GRCm39) |
E827K |
probably damaging |
Het |
| Fktn |
T |
C |
4: 53,735,099 (GRCm39) |
F246L |
possibly damaging |
Het |
| Fndc1 |
G |
A |
17: 7,997,580 (GRCm39) |
|
probably benign |
Het |
| Foxp2 |
G |
A |
6: 15,396,818 (GRCm39) |
C381Y |
probably damaging |
Het |
| Galnt6 |
A |
T |
15: 100,595,047 (GRCm39) |
Y485N |
probably damaging |
Het |
| Gemin4 |
G |
A |
11: 76,103,444 (GRCm39) |
A439V |
possibly damaging |
Het |
| Gpatch8 |
A |
G |
11: 102,391,657 (GRCm39) |
I155T |
unknown |
Het |
| Hmcn2 |
A |
G |
2: 31,328,267 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Hnrnpr |
T |
A |
4: 136,046,824 (GRCm39) |
|
probably benign |
Het |
| Hpx |
G |
A |
7: 105,244,781 (GRCm39) |
R135C |
probably damaging |
Het |
| Khdrbs2 |
T |
G |
1: 32,559,629 (GRCm39) |
E151A |
probably benign |
Het |
| Krt6b |
A |
T |
15: 101,586,562 (GRCm39) |
L309H |
probably damaging |
Het |
| Lce1c |
G |
T |
3: 92,587,765 (GRCm39) |
C64F |
unknown |
Het |
| Marchf6 |
C |
T |
15: 31,462,087 (GRCm39) |
|
probably null |
Het |
| Myt1 |
C |
A |
2: 181,437,552 (GRCm39) |
R88S |
probably benign |
Het |
| Nemp1 |
A |
G |
10: 127,529,446 (GRCm39) |
S194G |
probably benign |
Het |
| Nphp4 |
A |
G |
4: 152,639,111 (GRCm39) |
K914R |
probably damaging |
Het |
| Or3a1 |
T |
A |
11: 74,225,212 (GRCm39) |
T282S |
possibly damaging |
Het |
| Osbp |
T |
C |
19: 11,951,265 (GRCm39) |
M270T |
probably benign |
Het |
| Parg |
T |
C |
14: 31,932,531 (GRCm39) |
M457T |
possibly damaging |
Het |
| Phf20 |
T |
C |
2: 156,129,874 (GRCm39) |
M482T |
probably benign |
Het |
| Pik3c2a |
G |
A |
7: 115,941,472 (GRCm39) |
T1598I |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,798,759 (GRCm39) |
M2689T |
probably damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,944,216 (GRCm39) |
V1091E |
probably damaging |
Het |
| Ptcd2 |
A |
T |
13: 99,456,744 (GRCm39) |
L360Q |
probably damaging |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Serpinc1 |
A |
T |
1: 160,821,110 (GRCm39) |
T65S |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,166,176 (GRCm39) |
T1486I |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,068,968 (GRCm39) |
L949P |
probably damaging |
Het |
| Ssc5d |
T |
G |
7: 4,931,628 (GRCm39) |
C278W |
probably damaging |
Het |
| Tbc1d14 |
T |
G |
5: 36,728,718 (GRCm39) |
H216P |
possibly damaging |
Het |
| Tmem183a |
A |
G |
1: 134,277,861 (GRCm39) |
F301S |
probably damaging |
Het |
| Tmem233 |
A |
C |
5: 116,189,496 (GRCm39) |
N94K |
possibly damaging |
Het |
| Tmprss13 |
A |
G |
9: 45,243,843 (GRCm39) |
D193G |
probably damaging |
Het |
| Tprkb |
T |
C |
6: 85,910,030 (GRCm39) |
|
probably benign |
Het |
| Tram1l1 |
A |
G |
3: 124,115,488 (GRCm39) |
H216R |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,564,484 (GRCm39) |
V28551A |
probably damaging |
Het |
| Ubtfl1 |
A |
G |
9: 18,320,547 (GRCm39) |
N25S |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,542,935 (GRCm39) |
N396K |
probably damaging |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,012 (GRCm39) |
L79P |
probably damaging |
Het |
| Vmn2r115 |
G |
T |
17: 23,566,927 (GRCm39) |
V480F |
possibly damaging |
Het |
| Xpo4 |
T |
C |
14: 57,824,101 (GRCm39) |
I995V |
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 |
|
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'- GGATGAGAAATCTCCAGCTAAAATCG -3'
(R):5'- ACTAGGACACAGGCTACCAG -3'
Sequencing Primer
(F):5'- AATCTCCAGCTAAAATCGTTTTTCC -3'
(R):5'- GGCTTGGGAACAGACACCTTTATTC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation