Incidental Mutation 'P0028:Rcsd1'
| ID |
17810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcsd1
|
| Ensembl Gene |
ENSMUSG00000040723 |
| Gene Name |
RCSD domain containing 1 |
| Synonyms |
A430105K13Rik |
| MMRRC Submission |
038281-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
P0028 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
165476503-165537632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 165483566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 142
(R142W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095082
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040357]
[ENSMUST00000097474]
|
| AlphaFold |
Q3UZA1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040357
AA Change: R172W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043724
Gene: ENSMUSG00000040723
AA Change: R172W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP-ZIP_m
|
76 |
207 |
6.7e-25 |
PFAM |
|
Pfam:RCSD
|
230 |
329 |
1.3e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000097474
AA Change: R142W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095082
Gene: ENSMUSG00000040723
AA Change: R142W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAP-ZIP_m
|
45 |
174 |
3.1e-25 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 85.4%
- 3x: 79.0%
- 10x: 59.9%
- 20x: 38.6%
|
| Validation Efficiency |
78% (43/55) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap17 |
G |
A |
7: 122,885,900 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
C |
T |
8: 14,978,925 (GRCm39) |
T64M |
possibly damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,841,541 (GRCm39) |
R186G |
probably benign |
Het |
| Celsr1 |
G |
A |
15: 85,806,436 (GRCm39) |
R974W |
probably damaging |
Het |
| Cutc |
A |
G |
19: 43,753,408 (GRCm39) |
R184G |
possibly damaging |
Het |
| Ddx24 |
T |
C |
12: 103,374,634 (GRCm39) |
N850S |
probably benign |
Het |
| Dock1 |
T |
G |
7: 134,601,053 (GRCm39) |
|
probably benign |
Het |
| Dusp12 |
A |
T |
1: 170,707,386 (GRCm39) |
L234* |
probably null |
Het |
| Fam171b |
T |
A |
2: 83,683,783 (GRCm39) |
V100E |
probably damaging |
Het |
| Mical3 |
A |
T |
6: 121,001,650 (GRCm39) |
M614K |
probably benign |
Het |
| Myh6 |
C |
T |
14: 55,201,094 (GRCm39) |
V123I |
probably benign |
Het |
| Nbeal1 |
A |
G |
1: 60,331,096 (GRCm39) |
Y2235C |
probably damaging |
Het |
| Prickle1 |
A |
G |
15: 93,398,783 (GRCm39) |
S682P |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,608,166 (GRCm39) |
|
probably benign |
Het |
| Rb1 |
C |
A |
14: 73,502,068 (GRCm39) |
R439L |
probably damaging |
Het |
| Rtp1 |
G |
C |
16: 23,248,116 (GRCm39) |
W63S |
probably damaging |
Het |
| Setd2 |
A |
G |
9: 110,403,022 (GRCm39) |
T1888A |
probably benign |
Het |
| Srp68 |
C |
A |
11: 116,151,746 (GRCm39) |
Q283H |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,256,225 (GRCm39) |
C3927S |
probably damaging |
Het |
| Zfp831 |
A |
G |
2: 174,487,139 (GRCm39) |
K605E |
possibly damaging |
Het |
|
| Other mutations in Rcsd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02160:Rcsd1
|
APN |
1 |
165,485,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Rcsd1
|
UTSW |
1 |
165,483,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1898:Rcsd1
|
UTSW |
1 |
165,486,998 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2260:Rcsd1
|
UTSW |
1 |
165,486,998 (GRCm39) |
missense |
probably benign |
0.14 |
|
R2280:Rcsd1
|
UTSW |
1 |
165,486,998 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4427:Rcsd1
|
UTSW |
1 |
165,483,464 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4679:Rcsd1
|
UTSW |
1 |
165,483,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5327:Rcsd1
|
UTSW |
1 |
165,482,872 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5560:Rcsd1
|
UTSW |
1 |
165,483,070 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6327:Rcsd1
|
UTSW |
1 |
165,483,403 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6436:Rcsd1
|
UTSW |
1 |
165,485,184 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7267:Rcsd1
|
UTSW |
1 |
165,491,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Rcsd1
|
UTSW |
1 |
165,485,262 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8043:Rcsd1
|
UTSW |
1 |
165,482,911 (GRCm39) |
missense |
probably benign |
0.03 |
|
Y4337:Rcsd1
|
UTSW |
1 |
165,483,253 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Z1177:Rcsd1
|
UTSW |
1 |
165,483,313 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-02-25 |
Incidental Mutation