Incidental Mutation 'R4005:Ddx28'
| ID |
311431 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx28
|
| Ensembl Gene |
ENSMUSG00000045538 |
| Gene Name |
DEAD box helicase 28 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 28, 2410004K13Rik, Mddx28 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R4005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
106736248-106738118 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 106737560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Proline
at position 166
(R166P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034375]
[ENSMUST00000058579]
[ENSMUST00000119736]
[ENSMUST00000142898]
[ENSMUST00000227778]
|
| AlphaFold |
Q9CWT6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034375
|
| SMART Domains |
Protein: ENSMUSP00000034375
Gene: ENSMUSG00000031901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
15 |
344 |
1.8e-54 |
PFAM |
|
DSRM
|
370 |
435 |
1.03e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058579
AA Change: R166P
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000058950
Gene: ENSMUSG00000045538
AA Change: R166P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
42 |
58 |
N/A |
INTRINSIC |
|
DEXDc
|
147 |
365 |
1.64e-40 |
SMART |
|
HELICc
|
411 |
492 |
6.89e-25 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119736
|
| SMART Domains |
Protein: ENSMUSP00000113781
Gene: ENSMUSG00000031901
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dus
|
1 |
233 |
8.1e-38 |
PFAM |
|
DSRM
|
257 |
322 |
1.03e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141374
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142898
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227778
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is intronless. It encodes an RNA-dependent ATPase. The encoded protein is localized in the mitochondria and the nucleus, and can be transported between the mitochondria and the nucleus. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
A |
3: 89,657,094 (GRCm39) |
L488Q |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,468,868 (GRCm39) |
T348A |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,247,816 (GRCm39) |
M300T |
probably benign |
Het |
| Asl |
C |
T |
5: 130,047,673 (GRCm39) |
|
probably null |
Het |
| Capn10 |
T |
A |
1: 92,868,313 (GRCm39) |
L260Q |
probably damaging |
Het |
| Cdhr3 |
T |
C |
12: 33,130,355 (GRCm39) |
D160G |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,374,870 (GRCm39) |
E1372G |
probably damaging |
Het |
| Cpeb2 |
A |
G |
5: 43,395,755 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
G |
A |
11: 31,875,390 (GRCm39) |
A530T |
probably damaging |
Het |
| Cstl1 |
A |
T |
2: 148,597,190 (GRCm39) |
I64F |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,145 (GRCm39) |
I64T |
possibly damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,353,674 (GRCm39) |
I765V |
probably benign |
Het |
| Edem3 |
T |
C |
1: 151,635,506 (GRCm39) |
M60T |
probably damaging |
Het |
| Farp1 |
C |
T |
14: 121,513,809 (GRCm39) |
R844W |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Hmcn1 |
C |
G |
1: 150,598,204 (GRCm39) |
L1699F |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,235,981 (GRCm39) |
L1400H |
probably benign |
Het |
| Ikzf3 |
C |
T |
11: 98,379,843 (GRCm39) |
E142K |
probably damaging |
Het |
| Ilkap |
T |
A |
1: 91,312,985 (GRCm39) |
N170I |
probably benign |
Het |
| Kctd3 |
T |
G |
1: 188,734,124 (GRCm39) |
I39L |
possibly damaging |
Het |
| Lrit3 |
C |
A |
3: 129,585,021 (GRCm39) |
V246L |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,678,299 (GRCm39) |
I619T |
probably damaging |
Het |
| Map1b |
G |
T |
13: 99,566,415 (GRCm39) |
P2102H |
unknown |
Het |
| Mcm10 |
G |
T |
2: 5,005,814 (GRCm39) |
S440R |
probably damaging |
Het |
| Mtss2 |
CG |
CGG |
8: 111,465,673 (GRCm39) |
|
probably null |
Het |
| Nlrp9a |
A |
G |
7: 26,257,975 (GRCm39) |
N531S |
probably benign |
Het |
| Nrcam |
T |
A |
12: 44,579,429 (GRCm39) |
D31E |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Ogn |
A |
C |
13: 49,762,775 (GRCm39) |
E39A |
possibly damaging |
Het |
| Or4g17 |
G |
A |
2: 111,210,088 (GRCm39) |
V248I |
probably benign |
Het |
| Or52z14 |
A |
G |
7: 103,253,470 (GRCm39) |
Y203C |
probably damaging |
Het |
| Or5b94 |
A |
T |
19: 12,652,210 (GRCm39) |
I214L |
probably benign |
Het |
| Pramel20 |
A |
G |
4: 143,298,839 (GRCm39) |
T261A |
probably benign |
Het |
| Rgs2 |
T |
A |
1: 143,877,606 (GRCm39) |
I150L |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,245,774 (GRCm39) |
D490E |
probably damaging |
Het |
| Spag5 |
T |
C |
11: 78,212,355 (GRCm39) |
M1101T |
probably benign |
Het |
| Ulk4 |
A |
T |
9: 120,997,265 (GRCm39) |
L769Q |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,966,195 (GRCm39) |
S144G |
probably benign |
Het |
|
| Other mutations in Ddx28 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01314:Ddx28
|
APN |
8 |
106,737,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0166:Ddx28
|
UTSW |
8 |
106,736,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0329:Ddx28
|
UTSW |
8 |
106,736,877 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0362:Ddx28
|
UTSW |
8 |
106,737,926 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Ddx28
|
UTSW |
8 |
106,736,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1267:Ddx28
|
UTSW |
8 |
106,736,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1686:Ddx28
|
UTSW |
8 |
106,737,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Ddx28
|
UTSW |
8 |
106,737,314 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2201:Ddx28
|
UTSW |
8 |
106,737,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6456:Ddx28
|
UTSW |
8 |
106,737,000 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6601:Ddx28
|
UTSW |
8 |
106,737,248 (GRCm39) |
splice site |
probably null |
|
|
R7295:Ddx28
|
UTSW |
8 |
106,737,476 (GRCm39) |
missense |
probably benign |
|
|
R7320:Ddx28
|
UTSW |
8 |
106,737,957 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7690:Ddx28
|
UTSW |
8 |
106,736,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8427:Ddx28
|
UTSW |
8 |
106,736,912 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9685:Ddx28
|
UTSW |
8 |
106,736,733 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTTCTATCACCTGCAGGCC -3'
(R):5'- AGACCATTTCTCCATAGAGCGAG -3'
Sequencing Primer
(F):5'- AGTACCCACCCAGTGACTG -3'
(R):5'- CATTTCTCCATAGAGCGAGTGCAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation