Incidental Mutation 'R5981:Rwdd1'
| ID |
481419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rwdd1
|
| Ensembl Gene |
ENSMUSG00000019782 |
| Gene Name |
RWD domain containing 1 |
| Synonyms |
2610002D06Rik, 2700069A07Rik |
| MMRRC Submission |
043250-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5981 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
33872551-33895612 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33885081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 60
(Y60H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019917]
|
| AlphaFold |
Q9CQK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019917
AA Change: Y60H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000019917
Gene: ENSMUSG00000019782
AA Change: Y60H
| Domain | Start | End | E-Value | Type |
|---|
|
RWD
|
10 |
114 |
1.53e-26 |
SMART |
|
low complexity region
|
123 |
139 |
N/A |
INTRINSIC |
|
Blast:RWD
|
157 |
200 |
2e-10 |
BLAST |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219414
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm2 |
T |
C |
3: 59,659,299 (GRCm39) |
Y251H |
probably benign |
Het |
| Ccr3 |
G |
A |
9: 123,828,820 (GRCm39) |
G52S |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,993,661 (GRCm39) |
L1992P |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,515,293 (GRCm39) |
K23E |
probably damaging |
Het |
| Col12a1 |
G |
A |
9: 79,585,788 (GRCm39) |
R1224C |
probably damaging |
Het |
| Cox7c |
A |
T |
13: 86,194,780 (GRCm39) |
S5R |
possibly damaging |
Het |
| Eps8 |
A |
G |
6: 137,459,208 (GRCm39) |
V765A |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,863,307 (GRCm39) |
D104G |
possibly damaging |
Het |
| Gm11032 |
T |
C |
11: 4,571,697 (GRCm39) |
V34A |
probably benign |
Het |
| Hid1 |
G |
A |
11: 115,241,774 (GRCm39) |
T612I |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,313,664 (GRCm39) |
T1968I |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,905,229 (GRCm39) |
D444G |
probably damaging |
Het |
| Ms4a1 |
T |
C |
19: 11,229,180 (GRCm39) |
E242G |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,255,405 (GRCm39) |
D216G |
probably damaging |
Het |
| Panx3 |
A |
G |
9: 37,580,177 (GRCm39) |
S59P |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,907 (GRCm39) |
D466G |
probably damaging |
Het |
| Plg |
T |
C |
17: 12,597,605 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
T |
C |
13: 35,070,693 (GRCm39) |
S427P |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,080,411 (GRCm39) |
S166P |
possibly damaging |
Het |
| Recql |
A |
G |
6: 142,318,604 (GRCm39) |
L213P |
probably damaging |
Het |
| Sult1b1 |
A |
C |
5: 87,682,816 (GRCm39) |
I43R |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,947,849 (GRCm39) |
V597E |
probably benign |
Het |
| Usp17lb |
T |
A |
7: 104,490,394 (GRCm39) |
I177F |
probably damaging |
Het |
| Zfp410 |
A |
G |
12: 84,378,414 (GRCm39) |
E193G |
probably benign |
Het |
|
| Other mutations in Rwdd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02583:Rwdd1
|
APN |
10 |
33,877,669 (GRCm39) |
nonsense |
probably null |
|
|
IGL02996:Rwdd1
|
APN |
10 |
33,878,512 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2255:Rwdd1
|
UTSW |
10 |
33,878,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Rwdd1
|
UTSW |
10 |
33,885,074 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7610:Rwdd1
|
UTSW |
10 |
33,877,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8012:Rwdd1
|
UTSW |
10 |
33,885,198 (GRCm39) |
intron |
probably benign |
|
|
R8212:Rwdd1
|
UTSW |
10 |
33,878,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8848:Rwdd1
|
UTSW |
10 |
33,884,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8960:Rwdd1
|
UTSW |
10 |
33,895,383 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9269:Rwdd1
|
UTSW |
10 |
33,888,095 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9712:Rwdd1
|
UTSW |
10 |
33,877,152 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCCAGTGAAGGCTCTATG -3'
(R):5'- CAACTCATCTTGTTGAGGTTGTTCC -3'
Sequencing Primer
(F):5'- CTCTATGCCCCAGTGTAGAGGAATG -3'
(R):5'- TTGACTCAATAGAAACACTGA -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation