Incidental Mutation 'R7517:Ddx21'
| ID |
582529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx21
|
| Ensembl Gene |
ENSMUSG00000020075 |
| Gene Name |
DExD box helicase 21 |
| Synonyms |
RH II/Gu, D10Wsu42e, RH-II/Gualpha, DEAD (Asp-Glu-Ala-Asp) box polypeptide 21, D10Ertd645e |
| MMRRC Submission |
045590-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
62416030-62438060 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 62424569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 544
(P544L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045866]
|
| AlphaFold |
Q9JIK5 |
| PDB Structure |
Gu_alpha_helicase [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045866
AA Change: P544L
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000042691
Gene: ENSMUSG00000020075
AA Change: P544L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
45 |
N/A |
INTRINSIC |
|
low complexity region
|
87 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
107 |
139 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
140 |
160 |
2.96e-8 |
PROSPERO |
|
low complexity region
|
162 |
171 |
N/A |
INTRINSIC |
|
low complexity region
|
199 |
208 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
214 |
234 |
2.96e-8 |
PROSPERO |
|
DEXDc
|
277 |
484 |
2.76e-56 |
SMART |
|
HELICc
|
524 |
604 |
1.55e-27 |
SMART |
|
low complexity region
|
682 |
688 |
N/A |
INTRINSIC |
|
Pfam:GUCT
|
692 |
787 |
1.6e-33 |
PFAM |
|
low complexity region
|
827 |
843 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2362 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (46/46) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an antigen recognized by autoimmune antibodies from a patient with watermelon stomach disease. This protein unwinds double-stranded RNA, folds single-stranded RNA, and may play important roles in ribosomal RNA biogenesis, RNA editing, RNA transport, and general transcription. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd28 |
A |
T |
14: 31,437,331 (GRCm39) |
V578E |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,132 (GRCm39) |
C978S |
probably benign |
Het |
| Asph |
A |
T |
4: 9,517,697 (GRCm39) |
V475E |
probably damaging |
Het |
| Atf7ip2 |
T |
A |
16: 10,059,399 (GRCm39) |
|
probably null |
Het |
| Bace1 |
A |
T |
9: 45,771,559 (GRCm39) |
D491V |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,819,424 (GRCm39) |
I496T |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,248,882 (GRCm39) |
R448C |
probably benign |
Het |
| Ccdc181 |
T |
C |
1: 164,107,989 (GRCm39) |
F224S |
probably damaging |
Het |
| Cdan1 |
C |
T |
2: 120,558,405 (GRCm39) |
R469Q |
probably damaging |
Het |
| Epas1 |
C |
A |
17: 87,138,526 (GRCm39) |
T874N |
possibly damaging |
Het |
| Fam13b |
A |
T |
18: 34,627,660 (GRCm39) |
D180E |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,794 (GRCm39) |
V285M |
probably damaging |
Het |
| Gcn1 |
T |
G |
5: 115,757,755 (GRCm39) |
L2487V |
probably benign |
Het |
| Gm19410 |
C |
T |
8: 36,240,772 (GRCm39) |
A216V |
possibly damaging |
Het |
| Gm4871 |
G |
T |
5: 144,969,430 (GRCm39) |
R30S |
probably damaging |
Het |
| Gtf2ird1 |
T |
C |
5: 134,391,379 (GRCm39) |
D899G |
probably benign |
Het |
| Hipk3 |
T |
C |
2: 104,265,059 (GRCm39) |
T674A |
probably benign |
Het |
| Hnrnph3 |
A |
G |
10: 62,854,674 (GRCm39) |
L39S |
unknown |
Het |
| Ift122 |
T |
C |
6: 115,867,543 (GRCm39) |
V431A |
probably benign |
Het |
| Il36b |
A |
G |
2: 24,049,890 (GRCm39) |
H167R |
probably benign |
Het |
| Lce3e |
T |
A |
3: 92,875,142 (GRCm39) |
C33S |
unknown |
Het |
| Lrrc26 |
T |
C |
2: 25,180,545 (GRCm39) |
I182T |
probably benign |
Het |
| Magi1 |
T |
C |
6: 93,685,189 (GRCm39) |
R730G |
probably damaging |
Het |
| Meis3 |
G |
T |
7: 15,911,743 (GRCm39) |
V102F |
probably damaging |
Het |
| Mpp7 |
G |
A |
18: 7,440,183 (GRCm39) |
Q263* |
probably null |
Het |
| Myo7b |
A |
T |
18: 32,146,320 (GRCm39) |
I155N |
probably damaging |
Het |
| Nrip1 |
A |
T |
16: 76,088,072 (GRCm39) |
*1162K |
probably null |
Het |
| Or3a1b |
T |
A |
11: 74,012,335 (GRCm39) |
D73E |
probably damaging |
Het |
| Or4k50-ps1 |
T |
C |
2: 111,522,444 (GRCm39) |
F194L |
unknown |
Het |
| Or8i2 |
A |
C |
2: 86,852,486 (GRCm39) |
V134G |
probably benign |
Het |
| Pdik1l |
T |
A |
4: 134,005,736 (GRCm39) |
E326V |
possibly damaging |
Het |
| Phrf1 |
T |
C |
7: 140,836,523 (GRCm39) |
M265T |
unknown |
Het |
| Piezo2 |
A |
T |
18: 63,215,996 (GRCm39) |
N1222K |
possibly damaging |
Het |
| Pkd1 |
G |
A |
17: 24,799,393 (GRCm39) |
V2871M |
probably damaging |
Het |
| Pon2 |
T |
G |
6: 5,268,997 (GRCm39) |
N226H |
possibly damaging |
Het |
| Rftn2 |
G |
T |
1: 55,234,708 (GRCm39) |
D338E |
probably damaging |
Het |
| Rnf123 |
A |
T |
9: 107,947,473 (GRCm39) |
Y171* |
probably null |
Het |
| Ror2 |
A |
T |
13: 53,264,901 (GRCm39) |
N730K |
possibly damaging |
Het |
| Serpinb6c |
T |
A |
13: 34,079,278 (GRCm39) |
N138I |
probably damaging |
Het |
| Smco1 |
A |
T |
16: 32,092,785 (GRCm39) |
H152L |
possibly damaging |
Het |
| Tgm3 |
T |
G |
2: 129,883,684 (GRCm39) |
S447R |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,209,932 (GRCm39) |
K860E |
possibly damaging |
Het |
| Uba7 |
C |
A |
9: 107,853,897 (GRCm39) |
|
probably benign |
Het |
| Ucp3 |
A |
G |
7: 100,131,089 (GRCm39) |
N181D |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,215,765 (GRCm39) |
S21R |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,396,968 (GRCm39) |
S2395R |
|
Het |
|
| Other mutations in Ddx21 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00709:Ddx21
|
APN |
10 |
62,434,181 (GRCm39) |
nonsense |
probably null |
|
|
IGL01144:Ddx21
|
APN |
10 |
62,434,329 (GRCm39) |
missense |
unknown |
|
|
IGL01655:Ddx21
|
APN |
10 |
62,423,270 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01694:Ddx21
|
APN |
10 |
62,434,430 (GRCm39) |
nonsense |
probably null |
|
|
IGL01752:Ddx21
|
APN |
10 |
62,423,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Ddx21
|
APN |
10 |
62,434,153 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03140:Ddx21
|
APN |
10 |
62,429,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03248:Ddx21
|
APN |
10 |
62,427,769 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0131:Ddx21
|
UTSW |
10 |
62,420,531 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R0555:Ddx21
|
UTSW |
10 |
62,423,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1437:Ddx21
|
UTSW |
10 |
62,434,369 (GRCm39) |
missense |
unknown |
|
|
R1780:Ddx21
|
UTSW |
10 |
62,429,926 (GRCm39) |
splice site |
probably benign |
|
|
R1875:Ddx21
|
UTSW |
10 |
62,429,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2696:Ddx21
|
UTSW |
10 |
62,429,871 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4639:Ddx21
|
UTSW |
10 |
62,427,616 (GRCm39) |
nonsense |
probably null |
|
|
R4678:Ddx21
|
UTSW |
10 |
62,429,782 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4767:Ddx21
|
UTSW |
10 |
62,427,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Ddx21
|
UTSW |
10 |
62,423,900 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5145:Ddx21
|
UTSW |
10 |
62,423,318 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5243:Ddx21
|
UTSW |
10 |
62,437,992 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
R6085:Ddx21
|
UTSW |
10 |
62,429,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6701:Ddx21
|
UTSW |
10 |
62,426,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7134:Ddx21
|
UTSW |
10 |
62,427,634 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7555:Ddx21
|
UTSW |
10 |
62,434,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7577:Ddx21
|
UTSW |
10 |
62,426,449 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7704:Ddx21
|
UTSW |
10 |
62,429,865 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Ddx21
|
UTSW |
10 |
62,434,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9126:Ddx21
|
UTSW |
10 |
62,424,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9344:Ddx21
|
UTSW |
10 |
62,428,825 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9412:Ddx21
|
UTSW |
10 |
62,429,881 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9480:Ddx21
|
UTSW |
10 |
62,434,652 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Ddx21
|
UTSW |
10 |
62,423,317 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGAAAACTGCATAAAAGTCAG -3'
(R):5'- GTGCAAGAAGACATCTGCTCTTC -3'
Sequencing Primer
(F):5'- GTCAGTGAAAGGACTTTTAGTAACAC -3'
(R):5'- AGAGGTCTTGAGTTCCCTGCAAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation