Incidental Mutation 'R9628:Csde1'
ID |
725261 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csde1
|
Ensembl Gene |
ENSMUSG00000068823 |
Gene Name |
cold shock domain containing E1, RNA binding |
Synonyms |
unr, D3Jfr1 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.956)
|
Stock # |
R9628 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
102927742-102965502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 102962825 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 738
(V738A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029446
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029445]
[ENSMUST00000029446]
[ENSMUST00000128264]
[ENSMUST00000196355]
[ENSMUST00000197488]
[ENSMUST00000197678]
[ENSMUST00000197827]
[ENSMUST00000198180]
[ENSMUST00000199049]
[ENSMUST00000199240]
[ENSMUST00000199367]
[ENSMUST00000199420]
[ENSMUST00000199571]
[ENSMUST00000200069]
[ENSMUST00000200457]
|
AlphaFold |
Q91W50 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029445
|
SMART Domains |
Protein: ENSMUSP00000029445 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000029446
AA Change: V738A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000029446 Gene: ENSMUSG00000068823 AA Change: V738A
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: ENSMUST00000128264
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000196355
|
SMART Domains |
Protein: ENSMUSP00000142438 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197488
AA Change: V707A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143524 Gene: ENSMUSG00000068823 AA Change: V707A
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: ENSMUST00000197678
|
SMART Domains |
Protein: ENSMUSP00000142603 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
150 |
4.08e-102 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000197827
AA Change: V738A
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000143503 Gene: ENSMUSG00000068823 AA Change: V738A
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: V707A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142983 Gene: ENSMUSG00000068823 AA Change: V707A
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: ENSMUST00000199049
|
SMART Domains |
Protein: ENSMUSP00000143644 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
5.3e-123 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199240
AA Change: V608A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143050 Gene: ENSMUSG00000068823 AA Change: V608A
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: ENSMUST00000199367
|
SMART Domains |
Protein: ENSMUSP00000143620 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
small_GTPase
|
1 |
74 |
1.2e-22 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199420
AA Change: V707A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000142703 Gene: ENSMUSG00000068823 AA Change: V707A
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: V707A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143028 Gene: ENSMUSG00000068823 AA Change: V707A
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: ENSMUST00000200069
|
SMART Domains |
Protein: ENSMUSP00000143391 Gene: ENSMUSG00000027852
Domain | Start | End | E-Value | Type |
RAS
|
1 |
166 |
1.09e-120 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000200457
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrg7 |
T |
C |
16: 56,553,193 (GRCm39) |
N635D |
probably damaging |
Het |
Ankrd13c |
G |
C |
3: 157,653,313 (GRCm39) |
K50N |
probably benign |
Het |
Arhgef38 |
T |
C |
3: 132,838,025 (GRCm39) |
Y635C |
unknown |
Het |
Avl9 |
T |
A |
6: 56,713,460 (GRCm39) |
Y239* |
probably null |
Het |
C2cd3 |
T |
A |
7: 100,097,961 (GRCm39) |
H1449Q |
|
Het |
Ccdc141 |
G |
A |
2: 76,844,838 (GRCm39) |
P1410S |
probably damaging |
Het |
Ccz1 |
G |
A |
5: 143,925,043 (GRCm39) |
T471M |
possibly damaging |
Het |
Cdh26 |
T |
C |
2: 178,083,213 (GRCm39) |
S27P |
|
Het |
Cdk11b |
T |
G |
4: 155,734,154 (GRCm39) |
D756E |
unknown |
Het |
Celsr3 |
C |
A |
9: 108,703,559 (GRCm39) |
S14* |
probably null |
Het |
Cntrob |
T |
C |
11: 69,213,782 (GRCm39) |
T3A |
possibly damaging |
Het |
Cracd |
A |
G |
5: 77,004,923 (GRCm39) |
E428G |
unknown |
Het |
Dazap1 |
T |
C |
10: 80,118,999 (GRCm39) |
Y230H |
unknown |
Het |
Dip2a |
A |
G |
10: 76,142,993 (GRCm39) |
I264T |
probably damaging |
Het |
Dleu7 |
C |
A |
14: 62,530,144 (GRCm39) |
A86S |
possibly damaging |
Het |
Dnmbp |
T |
A |
19: 43,858,646 (GRCm39) |
D132V |
probably damaging |
Het |
Dppa4 |
T |
C |
16: 48,111,672 (GRCm39) |
V219A |
probably benign |
Het |
Dsg1c |
T |
A |
18: 20,397,373 (GRCm39) |
I27N |
probably damaging |
Het |
Egr4 |
T |
C |
6: 85,489,292 (GRCm39) |
Y256C |
probably benign |
Het |
Ess2 |
A |
T |
16: 17,720,757 (GRCm39) |
M363K |
probably damaging |
Het |
Fam124a |
A |
G |
14: 62,825,010 (GRCm39) |
E168G |
probably damaging |
Het |
Gata4 |
T |
C |
14: 63,478,545 (GRCm39) |
Y18C |
probably damaging |
Het |
Gckr |
C |
A |
5: 31,457,934 (GRCm39) |
A147D |
probably damaging |
Het |
H1f8 |
G |
A |
6: 115,924,700 (GRCm39) |
V69I |
probably damaging |
Het |
Hook1 |
T |
C |
4: 95,901,560 (GRCm39) |
L506P |
probably damaging |
Het |
Hormad2 |
G |
A |
11: 4,377,372 (GRCm39) |
P22L |
probably damaging |
Het |
Larp1b |
T |
C |
3: 40,916,103 (GRCm39) |
|
probably null |
Het |
Ldhb |
T |
C |
6: 142,439,862 (GRCm39) |
E226G |
probably damaging |
Het |
Lpar5 |
T |
G |
6: 125,058,948 (GRCm39) |
V223G |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,330 (GRCm39) |
V365A |
probably benign |
Het |
Lrrtm3 |
T |
C |
10: 63,923,776 (GRCm39) |
K464E |
probably damaging |
Het |
Ly75 |
A |
G |
2: 60,158,285 (GRCm39) |
I1000T |
probably damaging |
Het |
Myo1d |
C |
A |
11: 80,448,296 (GRCm39) |
G943V |
possibly damaging |
Het |
Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
Nphp4 |
T |
C |
4: 152,568,966 (GRCm39) |
L35P |
probably damaging |
Het |
Nptx2 |
G |
A |
5: 144,490,261 (GRCm39) |
R230H |
probably benign |
Het |
Ntsr1 |
G |
A |
2: 180,183,274 (GRCm39) |
R328H |
probably damaging |
Het |
Or1e25 |
G |
A |
11: 73,493,864 (GRCm39) |
V153I |
probably benign |
Het |
Or4c111 |
A |
G |
2: 88,843,670 (GRCm39) |
V246A |
probably damaging |
Het |
Or8b1 |
T |
G |
9: 38,399,871 (GRCm39) |
L182R |
probably benign |
Het |
Padi6 |
G |
A |
4: 140,464,626 (GRCm39) |
T201I |
probably damaging |
Het |
Plscr4 |
C |
T |
9: 92,354,985 (GRCm39) |
T13I |
possibly damaging |
Het |
Ppp6r1 |
G |
A |
7: 4,636,112 (GRCm39) |
A782V |
probably benign |
Het |
Rab18 |
G |
A |
18: 6,788,647 (GRCm39) |
V205M |
probably benign |
Het |
Rhobtb1 |
T |
C |
10: 69,106,653 (GRCm39) |
V468A |
probably damaging |
Het |
Rhox8 |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT |
X: 36,966,991 (GRCm39) |
|
probably benign |
Het |
Scaf11 |
A |
T |
15: 96,317,398 (GRCm39) |
I722N |
probably benign |
Het |
Slc17a4 |
A |
G |
13: 24,089,512 (GRCm39) |
V135A |
possibly damaging |
Het |
Slc30a5 |
A |
G |
13: 100,961,422 (GRCm39) |
|
probably null |
Het |
Slc5a6 |
T |
C |
5: 31,197,746 (GRCm39) |
Y321C |
probably benign |
Het |
Spag7 |
A |
T |
11: 70,555,186 (GRCm39) |
D178E |
probably benign |
Het |
Swsap1 |
T |
G |
9: 21,867,172 (GRCm39) |
S39A |
|
Het |
Tank |
A |
G |
2: 61,483,876 (GRCm39) |
T441A |
probably benign |
Het |
Tor1aip1 |
C |
A |
1: 155,893,320 (GRCm39) |
G276* |
probably null |
Het |
Usp47 |
G |
A |
7: 111,705,999 (GRCm39) |
M1220I |
probably benign |
Het |
Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
Vmn2r35 |
A |
G |
7: 7,815,702 (GRCm39) |
V489A |
probably benign |
Het |
Wif1 |
T |
C |
10: 120,932,549 (GRCm39) |
V309A |
possibly damaging |
Het |
Xpo4 |
T |
C |
14: 57,842,630 (GRCm39) |
N434D |
probably damaging |
Het |
Zfp462 |
A |
T |
4: 55,009,423 (GRCm39) |
H463L |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AAGTGAATTGCTCTTCCTTTCTGTG -3'
(R):5'- TAGATATGGTGGCACATGGC -3'
Sequencing Primer
(F):5'- AATTGCTCTTCCTTTCTGTGGTATG -3'
(R):5'- GCACATGGCAGCAAGCTG -3'
|
Posted On |
2022-09-12 |