Incidental Mutation 'R9677:Ddx52'
| ID |
728383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx52
|
| Ensembl Gene |
ENSMUSG00000020677 |
| Gene Name |
DExD box helicase 52 |
| Synonyms |
ROK1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 52, 2700029C06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R9677 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
83832888-83853914 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83836946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 146
(N146D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049257]
|
| AlphaFold |
Q8K301 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049257
AA Change: N146D
PolyPhen 2
Score 0.287 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048802
Gene: ENSMUSG00000020677
AA Change: N146D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
31 |
97 |
3e-15 |
BLAST |
|
DEXDc
|
185 |
390 |
4.45e-51 |
SMART |
|
HELICc
|
427 |
508 |
1.01e-31 |
SMART |
|
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
T |
C |
2: 113,878,636 (GRCm39) |
T320A |
probably benign |
Het |
| Btnl2 |
T |
A |
17: 34,580,007 (GRCm39) |
I180N |
possibly damaging |
Het |
| Chmp6 |
C |
T |
11: 119,806,459 (GRCm39) |
R59* |
probably null |
Het |
| Cisd2 |
T |
A |
3: 135,129,044 (GRCm39) |
I27F |
possibly damaging |
Het |
| Col3a1 |
C |
T |
1: 45,369,727 (GRCm39) |
P336S |
unknown |
Het |
| Ctps1 |
G |
T |
4: 120,410,092 (GRCm39) |
H330Q |
probably benign |
Het |
| Dnah1 |
T |
C |
14: 31,029,821 (GRCm39) |
I495V |
probably benign |
Het |
| Dop1a |
T |
A |
9: 86,425,098 (GRCm39) |
D2139E |
|
Het |
| Fam169b |
A |
G |
7: 67,954,388 (GRCm39) |
D79G |
probably benign |
Het |
| Hspa1b |
C |
A |
17: 35,177,860 (GRCm39) |
V42L |
probably benign |
Het |
| Ift122 |
T |
A |
6: 115,897,357 (GRCm39) |
S919T |
probably benign |
Het |
| Lrrc9 |
T |
C |
12: 72,497,539 (GRCm39) |
L119S |
probably damaging |
Het |
| Map3k6 |
G |
T |
4: 132,968,427 (GRCm39) |
V10F |
probably benign |
Het |
| Med26 |
A |
T |
8: 73,249,930 (GRCm39) |
Y390N |
probably damaging |
Het |
| Nup50 |
A |
G |
15: 84,819,479 (GRCm39) |
E251G |
possibly damaging |
Het |
| Or4a81 |
A |
T |
2: 89,619,161 (GRCm39) |
D178E |
possibly damaging |
Het |
| Or5b105 |
T |
A |
19: 13,080,518 (GRCm39) |
D50V |
probably damaging |
Het |
| Rab30 |
G |
A |
7: 92,469,245 (GRCm39) |
G16D |
probably damaging |
Het |
| Rbis |
A |
G |
3: 14,674,674 (GRCm39) |
V56A |
probably damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,834,246 (GRCm39) |
M756V |
possibly damaging |
Het |
| Syne1 |
T |
C |
10: 5,215,125 (GRCm39) |
D3193G |
probably damaging |
Het |
| Tfrc |
A |
G |
16: 32,434,179 (GRCm39) |
K136R |
probably benign |
Het |
| Tmem220 |
G |
T |
11: 66,925,011 (GRCm39) |
V173L |
probably benign |
Het |
| Tnxb |
C |
T |
17: 34,917,878 (GRCm39) |
P2264S |
possibly damaging |
Het |
| Uba6 |
G |
A |
5: 86,265,910 (GRCm39) |
P999L |
probably damaging |
Het |
| Vmn2r11 |
T |
C |
5: 109,201,332 (GRCm39) |
T391A |
|
Het |
| Vmn2r80 |
T |
C |
10: 78,984,672 (GRCm39) |
F8S |
probably benign |
Het |
| Zdhhc2 |
T |
A |
8: 40,909,712 (GRCm39) |
L150* |
probably null |
Het |
| Zmym2 |
T |
C |
14: 57,187,115 (GRCm39) |
V1093A |
probably benign |
Het |
|
| Other mutations in Ddx52 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02271:Ddx52
|
APN |
11 |
83,843,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02309:Ddx52
|
APN |
11 |
83,839,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0306:Ddx52
|
UTSW |
11 |
83,835,474 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1636:Ddx52
|
UTSW |
11 |
83,846,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1641:Ddx52
|
UTSW |
11 |
83,834,269 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1803:Ddx52
|
UTSW |
11 |
83,836,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Ddx52
|
UTSW |
11 |
83,850,323 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2037:Ddx52
|
UTSW |
11 |
83,835,432 (GRCm39) |
missense |
probably benign |
|
|
R4592:Ddx52
|
UTSW |
11 |
83,848,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Ddx52
|
UTSW |
11 |
83,846,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5774:Ddx52
|
UTSW |
11 |
83,836,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5807:Ddx52
|
UTSW |
11 |
83,840,508 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5972:Ddx52
|
UTSW |
11 |
83,844,051 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6132:Ddx52
|
UTSW |
11 |
83,850,283 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R6525:Ddx52
|
UTSW |
11 |
83,844,145 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6747:Ddx52
|
UTSW |
11 |
83,846,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7250:Ddx52
|
UTSW |
11 |
83,835,392 (GRCm39) |
missense |
probably benign |
|
|
R7884:Ddx52
|
UTSW |
11 |
83,842,911 (GRCm39) |
splice site |
probably null |
|
|
R8277:Ddx52
|
UTSW |
11 |
83,845,940 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9315:Ddx52
|
UTSW |
11 |
83,837,033 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9385:Ddx52
|
UTSW |
11 |
83,843,096 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9420:Ddx52
|
UTSW |
11 |
83,833,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGGGCCCCATCATTTGTAC -3'
(R):5'- CTAGATCTTCACTCACATGCAGC -3'
Sequencing Primer
(F):5'- CCATGAAATGTACTCAGTGTCTGTG -3'
(R):5'- CAGCATAACTGGAATGGCTTGCATC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation