Incidental Mutation 'R5168:Ddx54'
| ID |
397391 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx54
|
| Ensembl Gene |
ENSMUSG00000029599 |
| Gene Name |
DEAD box helicase 54 |
| Synonyms |
DP97, 2410015A15Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 54, APR-5 |
| MMRRC Submission |
042748-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5168 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120751182-120766657 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120755097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 82
(E82G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031598
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031598]
[ENSMUST00000031599]
[ENSMUST00000111884]
[ENSMUST00000140554]
[ENSMUST00000177800]
|
| AlphaFold |
Q8K4L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031598
AA Change: E82G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031598
Gene: ENSMUSG00000029599
AA Change: E82G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
59 |
101 |
9e-19 |
BLAST |
|
DEXDc
|
114 |
313 |
3.5e-58 |
SMART |
|
HELICc
|
347 |
432 |
7.86e-20 |
SMART |
|
low complexity region
|
628 |
646 |
N/A |
INTRINSIC |
|
DBP10CT
|
706 |
766 |
1.45e-25 |
SMART |
|
low complexity region
|
778 |
801 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031599
|
| SMART Domains |
Protein: ENSMUSP00000031599
Gene: ENSMUSG00000029600
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
235 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111884
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136070
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140554
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177800
|
| SMART Domains |
Protein: ENSMUSP00000136946
Gene: ENSMUSG00000029600
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RITA
|
1 |
253 |
2.5e-105 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201616
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202672
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201698
|
| Meta Mutation Damage Score |
0.0875 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
96% (47/49) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca1 |
T |
C |
4: 53,086,070 (GRCm39) |
N478D |
probably benign |
Het |
| Acsl1 |
T |
A |
8: 46,966,303 (GRCm39) |
|
probably benign |
Het |
| Aox1 |
T |
A |
1: 58,088,561 (GRCm39) |
C116S |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,363,671 (GRCm39) |
L785P |
probably damaging |
Het |
| Calcr |
T |
C |
6: 3,708,610 (GRCm39) |
N192S |
probably benign |
Het |
| Cntrl |
T |
A |
2: 35,047,667 (GRCm39) |
L1414H |
probably damaging |
Het |
| Cntrob |
T |
A |
11: 69,190,816 (GRCm39) |
I849F |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,701,361 (GRCm39) |
W2518* |
probably null |
Het |
| Cxcl15 |
T |
A |
5: 90,943,142 (GRCm39) |
I48K |
probably damaging |
Het |
| Dab2 |
T |
C |
15: 6,365,924 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,720,637 (GRCm39) |
W1249R |
probably damaging |
Het |
| Fras1 |
A |
C |
5: 96,856,616 (GRCm39) |
M2000L |
probably benign |
Het |
| Gpr31b |
A |
T |
17: 13,270,326 (GRCm39) |
I281N |
probably damaging |
Het |
| Gvin3 |
T |
C |
7: 106,196,054 (GRCm39) |
|
noncoding transcript |
Het |
| Haus5 |
T |
C |
7: 30,357,136 (GRCm39) |
T432A |
possibly damaging |
Het |
| Hecw2 |
A |
G |
1: 53,952,459 (GRCm39) |
S925P |
probably damaging |
Het |
| Katnal1 |
A |
G |
5: 148,858,132 (GRCm39) |
M26T |
possibly damaging |
Het |
| Mccc1 |
C |
T |
3: 36,044,929 (GRCm39) |
W71* |
probably null |
Het |
| Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
| Nrbp1 |
T |
A |
5: 31,407,481 (GRCm39) |
V397D |
probably damaging |
Het |
| Nt5dc1 |
T |
A |
10: 34,273,236 (GRCm39) |
E187D |
probably benign |
Het |
| Or1e19 |
T |
A |
11: 73,316,669 (GRCm39) |
I47F |
probably benign |
Het |
| Or51f23 |
C |
T |
7: 102,453,528 (GRCm39) |
A281V |
probably benign |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Pramel27 |
T |
C |
4: 143,579,768 (GRCm39) |
V451A |
probably benign |
Het |
| Ralgapa1 |
A |
G |
12: 55,804,817 (GRCm39) |
V493A |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,767,207 (GRCm39) |
T1228A |
probably benign |
Het |
| Slc26a3 |
G |
A |
12: 31,518,553 (GRCm39) |
V674I |
possibly damaging |
Het |
| Spata31f1a |
C |
T |
4: 42,851,488 (GRCm39) |
V223I |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tacr3 |
T |
C |
3: 134,535,320 (GRCm39) |
I96T |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,197,139 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,824,088 (GRCm39) |
N254K |
probably benign |
Het |
| Tmem79 |
A |
T |
3: 88,240,651 (GRCm39) |
L99Q |
probably damaging |
Het |
| Trav6-5 |
A |
T |
14: 53,728,973 (GRCm39) |
N78Y |
probably benign |
Het |
| Trim33 |
C |
T |
3: 103,248,997 (GRCm39) |
Q807* |
probably null |
Het |
| Ugt1a10 |
A |
G |
1: 87,983,531 (GRCm39) |
T110A |
probably benign |
Het |
| Vcl |
C |
T |
14: 21,060,170 (GRCm39) |
T603I |
probably damaging |
Het |
| Vps8 |
A |
T |
16: 21,276,195 (GRCm39) |
T243S |
probably damaging |
Het |
| Vps8 |
A |
C |
16: 21,351,849 (GRCm39) |
I323L |
probably benign |
Het |
| Zfp746 |
G |
C |
6: 48,041,329 (GRCm39) |
Q465E |
possibly damaging |
Het |
|
| Other mutations in Ddx54 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Ddx54
|
APN |
5 |
120,761,875 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01324:Ddx54
|
APN |
5 |
120,761,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01399:Ddx54
|
APN |
5 |
120,761,968 (GRCm39) |
nonsense |
probably null |
|
|
IGL02052:Ddx54
|
APN |
5 |
120,763,783 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02095:Ddx54
|
APN |
5 |
120,761,856 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02370:Ddx54
|
APN |
5 |
120,757,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Ddx54
|
APN |
5 |
120,756,195 (GRCm39) |
splice site |
probably benign |
|
|
R0521:Ddx54
|
UTSW |
5 |
120,764,927 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0556:Ddx54
|
UTSW |
5 |
120,757,719 (GRCm39) |
splice site |
probably benign |
|
|
R0723:Ddx54
|
UTSW |
5 |
120,761,703 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2968:Ddx54
|
UTSW |
5 |
120,756,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4622:Ddx54
|
UTSW |
5 |
120,764,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Ddx54
|
UTSW |
5 |
120,761,694 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5169:Ddx54
|
UTSW |
5 |
120,761,328 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5424:Ddx54
|
UTSW |
5 |
120,757,926 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5489:Ddx54
|
UTSW |
5 |
120,762,786 (GRCm39) |
missense |
probably benign |
|
|
R5956:Ddx54
|
UTSW |
5 |
120,764,432 (GRCm39) |
unclassified |
probably benign |
|
|
R5999:Ddx54
|
UTSW |
5 |
120,761,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6220:Ddx54
|
UTSW |
5 |
120,758,754 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6413:Ddx54
|
UTSW |
5 |
120,765,127 (GRCm39) |
missense |
probably benign |
|
|
R6477:Ddx54
|
UTSW |
5 |
120,759,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6702:Ddx54
|
UTSW |
5 |
120,764,568 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6783:Ddx54
|
UTSW |
5 |
120,756,779 (GRCm39) |
nonsense |
probably null |
|
|
R6865:Ddx54
|
UTSW |
5 |
120,759,892 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7258:Ddx54
|
UTSW |
5 |
120,758,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7260:Ddx54
|
UTSW |
5 |
120,764,985 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7488:Ddx54
|
UTSW |
5 |
120,762,789 (GRCm39) |
missense |
probably benign |
|
|
R7887:Ddx54
|
UTSW |
5 |
120,765,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8179:Ddx54
|
UTSW |
5 |
120,765,167 (GRCm39) |
missense |
probably benign |
|
|
R8303:Ddx54
|
UTSW |
5 |
120,759,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8781:Ddx54
|
UTSW |
5 |
120,751,217 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9451:Ddx54
|
UTSW |
5 |
120,765,209 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Ddx54
|
UTSW |
5 |
120,758,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9732:Ddx54
|
UTSW |
5 |
120,763,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9760:Ddx54
|
UTSW |
5 |
120,761,672 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGAACTAACCTGCGCCTC -3'
(R):5'- AAGACTGTCTGTACTGCCCC -3'
Sequencing Primer
(F):5'- CCCAGCCTGGTCCAAGG -3'
(R):5'- CAGGCCTAAGGTAGACAT -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation