Incidental Mutation 'R2315:Ddx20'
| ID |
245450 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx20
|
| Ensembl Gene |
ENSMUSG00000027905 |
| Gene Name |
DEAD box helicase 20 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 20, GEMIN3, dp103 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
105585586-105594890 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 105586015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 777
(Y777H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090680]
[ENSMUST00000098761]
[ENSMUST00000200078]
|
| AlphaFold |
Q9JJY4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090680
AA Change: Y777H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000088176
Gene: ENSMUSG00000027905
AA Change: Y777H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
DEXDc
|
82 |
280 |
7.47e-44 |
SMART |
|
HELICc
|
324 |
405 |
2.8e-25 |
SMART |
|
low complexity region
|
434 |
445 |
N/A |
INTRINSIC |
|
low complexity region
|
646 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098761
|
| SMART Domains |
Protein: ENSMUSP00000096357
Gene: ENSMUSG00000040896
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Shal-type
|
3 |
31 |
7.3e-19 |
PFAM |
|
BTB
|
40 |
139 |
1.76e-16 |
SMART |
|
transmembrane domain
|
180 |
202 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans
|
228 |
402 |
1e-31 |
PFAM |
|
Pfam:Ion_trans_2
|
327 |
408 |
8.4e-15 |
PFAM |
|
low complexity region
|
412 |
431 |
N/A |
INTRINSIC |
|
Pfam:DUF3399
|
442 |
545 |
9.5e-52 |
PFAM |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132008
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200078
|
| SMART Domains |
Protein: ENSMUSP00000142675
Gene: ENSMUSG00000027905
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
Pfam:DEAD
|
87 |
134 |
7.6e-5 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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 has an ATPase activity and is a component of the survival of motor neurons (SMN) complex. This protein interacts directly with SMN, the spinal muscular atrophy gene product, and may play a catalytic role in the function of the SMN complex on RNPs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele fail to implant and develop past the 2-cell stage. Heterozygous null females are viable, healthy and fertile but show increased ovary weight, a greater number of empty follicles, a prolonged estrous phase, and reduced nocturnal and stress-induced serum ACTH levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cnot1 |
C |
T |
8: 96,475,690 (GRCm39) |
G995R |
probably damaging |
Het |
| Cntn2 |
T |
C |
1: 132,450,735 (GRCm39) |
T547A |
probably benign |
Het |
| Fbxo32 |
T |
C |
15: 58,071,431 (GRCm39) |
N50S |
probably benign |
Het |
| Fsip2 |
G |
C |
2: 82,805,437 (GRCm39) |
M585I |
probably benign |
Het |
| Gm13941 |
A |
G |
2: 110,935,162 (GRCm39) |
S23P |
unknown |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Hoxa2 |
A |
G |
6: 52,139,871 (GRCm39) |
|
probably benign |
Het |
| Hydin |
A |
G |
8: 111,124,676 (GRCm39) |
I562V |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,908,999 (GRCm39) |
L179M |
probably damaging |
Het |
| Myl3 |
T |
C |
9: 110,595,809 (GRCm39) |
L102P |
probably damaging |
Het |
| Pag1 |
C |
T |
3: 9,764,824 (GRCm39) |
V110I |
probably damaging |
Het |
| Scube2 |
A |
G |
7: 109,403,908 (GRCm39) |
F861L |
probably damaging |
Het |
| Serpina3n |
A |
T |
12: 104,378,627 (GRCm39) |
I316F |
possibly damaging |
Het |
| Sez6l |
A |
G |
5: 112,612,463 (GRCm39) |
S493P |
probably benign |
Het |
| Sult1c2 |
T |
A |
17: 54,145,521 (GRCm39) |
T52S |
possibly damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Vmn2r17 |
A |
C |
5: 109,575,897 (GRCm39) |
D256A |
probably damaging |
Het |
| Xylb |
T |
C |
9: 119,188,335 (GRCm39) |
F47S |
probably benign |
Het |
| Zim1 |
T |
C |
7: 6,680,067 (GRCm39) |
D532G |
possibly damaging |
Het |
|
| Other mutations in Ddx20 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Ddx20
|
APN |
3 |
105,593,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01832:Ddx20
|
APN |
3 |
105,586,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02072:Ddx20
|
APN |
3 |
105,587,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02821:Ddx20
|
APN |
3 |
105,586,593 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0520:Ddx20
|
UTSW |
3 |
105,594,692 (GRCm39) |
missense |
probably benign |
|
|
R0600:Ddx20
|
UTSW |
3 |
105,586,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Ddx20
|
UTSW |
3 |
105,586,504 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1817:Ddx20
|
UTSW |
3 |
105,585,896 (GRCm39) |
nonsense |
probably null |
|
|
R1843:Ddx20
|
UTSW |
3 |
105,586,398 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1922:Ddx20
|
UTSW |
3 |
105,585,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1955:Ddx20
|
UTSW |
3 |
105,586,878 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1993:Ddx20
|
UTSW |
3 |
105,586,660 (GRCm39) |
nonsense |
probably null |
|
|
R2215:Ddx20
|
UTSW |
3 |
105,587,656 (GRCm39) |
splice site |
probably benign |
|
|
R2241:Ddx20
|
UTSW |
3 |
105,590,521 (GRCm39) |
nonsense |
probably null |
|
|
R4156:Ddx20
|
UTSW |
3 |
105,586,249 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4790:Ddx20
|
UTSW |
3 |
105,590,485 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4962:Ddx20
|
UTSW |
3 |
105,587,921 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5072:Ddx20
|
UTSW |
3 |
105,590,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5361:Ddx20
|
UTSW |
3 |
105,590,825 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5622:Ddx20
|
UTSW |
3 |
105,586,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5936:Ddx20
|
UTSW |
3 |
105,587,903 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6007:Ddx20
|
UTSW |
3 |
105,590,736 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6192:Ddx20
|
UTSW |
3 |
105,586,036 (GRCm39) |
missense |
probably benign |
|
|
R6916:Ddx20
|
UTSW |
3 |
105,587,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Ddx20
|
UTSW |
3 |
105,591,626 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6970:Ddx20
|
UTSW |
3 |
105,587,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8366:Ddx20
|
UTSW |
3 |
105,594,695 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9176:Ddx20
|
UTSW |
3 |
105,586,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9221:Ddx20
|
UTSW |
3 |
105,587,685 (GRCm39) |
nonsense |
probably null |
|
|
R9326:Ddx20
|
UTSW |
3 |
105,591,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9336:Ddx20
|
UTSW |
3 |
105,585,903 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACAGTCACTAGTCTGAAGCAC -3'
(R):5'- ATGATACCCCGACTCAAGTGG -3'
Sequencing Primer
(F):5'- GCACATGCTAACCTCATTGG -3'
(R):5'- TGGAGTATCAAGAAGCCCCTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation