Incidental Mutation 'R2846:Ddx4'
| ID |
251612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx4
|
| Ensembl Gene |
ENSMUSG00000021758 |
| Gene Name |
DEAD box helicase 4 |
| Synonyms |
VASA, mvh / m'vasa, DEAD (Asp-Glu-Ala-Asp) box polypeptide 4, Mvh |
| MMRRC Submission |
040439-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.638)
|
| Stock # |
R2846 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
112734867-112789009 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 112741146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Methionine
at position 496
(K496M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096769
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075748]
[ENSMUST00000099166]
|
| AlphaFold |
Q61496 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075748
AA Change: K470M
PolyPhen 2
Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: K470M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
22 |
165 |
8e-14 |
BLAST |
|
low complexity region
|
175 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
221 |
229 |
N/A |
INTRINSIC |
|
DEXDc
|
280 |
491 |
9.38e-59 |
SMART |
|
HELICc
|
527 |
608 |
1.18e-32 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099166
AA Change: K496M
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: K496M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
41 |
191 |
7e-25 |
BLAST |
|
low complexity region
|
201 |
209 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
255 |
N/A |
INTRINSIC |
|
DEXDc
|
306 |
517 |
9.38e-59 |
SMART |
|
HELICc
|
553 |
634 |
1.18e-32 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| 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 is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(5) : Targeted, other(3) Gene trapped(2) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cdnf |
T |
A |
2: 3,514,165 (GRCm39) |
M1K |
probably null |
Het |
| Dlg1 |
T |
C |
16: 31,682,015 (GRCm39) |
S779P |
probably damaging |
Het |
| Dtna |
T |
A |
18: 23,784,560 (GRCm39) |
|
probably null |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Gal3st2c |
A |
T |
1: 93,924,122 (GRCm39) |
Q8L |
possibly damaging |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,245,746 (GRCm39) |
V2153A |
probably benign |
Het |
| Irs4 |
C |
A |
X: 140,507,336 (GRCm39) |
G287W |
probably damaging |
Het |
| Kif21a |
T |
C |
15: 90,818,667 (GRCm39) |
I1570V |
probably benign |
Het |
| Kremen1 |
GG |
GGGCG |
11: 5,151,793 (GRCm39) |
|
probably benign |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,085 (GRCm39) |
V521A |
probably damaging |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Or1e25 |
A |
T |
11: 73,494,209 (GRCm39) |
T268S |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,197,088 (GRCm39) |
P175S |
probably benign |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Ppfia3 |
C |
A |
7: 45,005,852 (GRCm39) |
R348L |
probably damaging |
Het |
| Prr12 |
G |
C |
7: 44,695,436 (GRCm39) |
S1343R |
unknown |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Qpct |
A |
G |
17: 79,378,171 (GRCm39) |
T114A |
probably damaging |
Het |
| Sec24d |
A |
G |
3: 123,144,395 (GRCm39) |
D624G |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,623,792 (GRCm39) |
Y259C |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcb1 |
C |
A |
10: 75,733,375 (GRCm39) |
R332L |
probably damaging |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| St18 |
T |
A |
1: 6,915,811 (GRCm39) |
C819S |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,230 (GRCm39) |
N180D |
possibly damaging |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Tmem204 |
G |
A |
17: 25,299,307 (GRCm39) |
H71Y |
probably benign |
Het |
| Vmn1r212 |
A |
G |
13: 23,068,262 (GRCm39) |
S24P |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,464,211 (GRCm39) |
S208P |
possibly damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,646,099 (GRCm39) |
S259G |
probably benign |
Het |
|
| Other mutations in Ddx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02030:Ddx4
|
APN |
13 |
112,761,311 (GRCm39) |
splice site |
probably benign |
|
|
IGL02682:Ddx4
|
APN |
13 |
112,758,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02729:Ddx4
|
APN |
13 |
112,787,946 (GRCm39) |
utr 5 prime |
probably benign |
|
|
H8930:Ddx4
|
UTSW |
13 |
112,750,367 (GRCm39) |
splice site |
probably null |
|
|
R0518:Ddx4
|
UTSW |
13 |
112,761,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0521:Ddx4
|
UTSW |
13 |
112,761,313 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1527:Ddx4
|
UTSW |
13 |
112,758,773 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1548:Ddx4
|
UTSW |
13 |
112,736,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Ddx4
|
UTSW |
13 |
112,736,436 (GRCm39) |
missense |
probably benign |
|
|
R1886:Ddx4
|
UTSW |
13 |
112,759,199 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Ddx4
|
UTSW |
13 |
112,757,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1969:Ddx4
|
UTSW |
13 |
112,736,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1970:Ddx4
|
UTSW |
13 |
112,736,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1971:Ddx4
|
UTSW |
13 |
112,736,547 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2265:Ddx4
|
UTSW |
13 |
112,757,810 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2280:Ddx4
|
UTSW |
13 |
112,757,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2906:Ddx4
|
UTSW |
13 |
112,757,311 (GRCm39) |
splice site |
probably benign |
|
|
R2980:Ddx4
|
UTSW |
13 |
112,748,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3732:Ddx4
|
UTSW |
13 |
112,748,516 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4085:Ddx4
|
UTSW |
13 |
112,750,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4088:Ddx4
|
UTSW |
13 |
112,750,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4089:Ddx4
|
UTSW |
13 |
112,750,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4090:Ddx4
|
UTSW |
13 |
112,750,295 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4600:Ddx4
|
UTSW |
13 |
112,748,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4610:Ddx4
|
UTSW |
13 |
112,748,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4669:Ddx4
|
UTSW |
13 |
112,758,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4700:Ddx4
|
UTSW |
13 |
112,750,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4782:Ddx4
|
UTSW |
13 |
112,787,894 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4782:Ddx4
|
UTSW |
13 |
112,750,230 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5326:Ddx4
|
UTSW |
13 |
112,757,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5542:Ddx4
|
UTSW |
13 |
112,757,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6111:Ddx4
|
UTSW |
13 |
112,757,766 (GRCm39) |
nonsense |
probably null |
|
|
R6253:Ddx4
|
UTSW |
13 |
112,772,557 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6253:Ddx4
|
UTSW |
13 |
112,772,556 (GRCm39) |
nonsense |
probably null |
|
|
R6286:Ddx4
|
UTSW |
13 |
112,750,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6518:Ddx4
|
UTSW |
13 |
112,741,081 (GRCm39) |
missense |
probably benign |
|
|
R6645:Ddx4
|
UTSW |
13 |
112,777,708 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7017:Ddx4
|
UTSW |
13 |
112,738,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7155:Ddx4
|
UTSW |
13 |
112,750,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7822:Ddx4
|
UTSW |
13 |
112,748,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7921:Ddx4
|
UTSW |
13 |
112,738,041 (GRCm39) |
missense |
probably benign |
|
|
R8041:Ddx4
|
UTSW |
13 |
112,762,928 (GRCm39) |
missense |
probably benign |
|
|
R8048:Ddx4
|
UTSW |
13 |
112,758,706 (GRCm39) |
missense |
probably null |
1.00 |
|
R8939:Ddx4
|
UTSW |
13 |
112,758,823 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9325:Ddx4
|
UTSW |
13 |
112,736,441 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGGAACCAGCTAAAATCAGC -3'
(R):5'- ACATAAGTAATGACTTTGCCACTG -3'
Sequencing Primer
(F):5'- TACAAAAACTAAGCCATAAAGTCACC -3'
(R):5'- AGTAATGACTTTGCCACTGTTCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation