Incidental Mutation 'R6534:Ddx10'
| ID |
520289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx10
|
| Ensembl Gene |
ENSMUSG00000053289 |
| Gene Name |
DEAD box helicase 10 |
| Synonyms |
4632415A01Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 |
| MMRRC Submission |
044660-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R6534 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
53009935-53159353 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53134988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 399
(Y399H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000065198
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065630]
|
| AlphaFold |
Q80Y44 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065630
AA Change: Y399H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065198
Gene: ENSMUSG00000053289
AA Change: Y399H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
43 |
N/A |
INTRINSIC |
|
DEXDc
|
88 |
291 |
1.74e-53 |
SMART |
|
HELICc
|
327 |
410 |
8.48e-25 |
SMART |
|
DUF4217
|
450 |
513 |
6.06e-25 |
SMART |
|
low complexity region
|
577 |
594 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
658 |
680 |
N/A |
INTRINSIC |
|
low complexity region
|
748 |
773 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7657 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (37/37) |
| 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, and it may be involved in ribosome assembly. Fusion of this gene and the nucleoporin gene, NUP98, by inversion 11 (p15q22) chromosome translocation is found in the patients with de novo or therapy-related myeloid malignancies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a spontaneous allele exhibit craniofacial defects, including decreased cranium length, cleft palate, and short snout, and show reduced body size, body weight, lean body mass, and bone mineral content. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
A |
T |
7: 97,875,655 (GRCm39) |
L142M |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,916,012 (GRCm39) |
F1435L |
probably damaging |
Het |
| Anapc13 |
T |
C |
9: 102,511,292 (GRCm39) |
L60P |
probably damaging |
Het |
| Apaf1 |
T |
C |
10: 90,891,862 (GRCm39) |
D497G |
probably damaging |
Het |
| Arpc1b |
A |
T |
5: 145,059,377 (GRCm39) |
I34F |
probably damaging |
Het |
| Atp2a2 |
A |
T |
5: 122,595,261 (GRCm39) |
W1030R |
possibly damaging |
Het |
| Cdk5rap2 |
T |
C |
4: 70,273,050 (GRCm39) |
E241G |
probably damaging |
Het |
| Cyp4a14 |
T |
A |
4: 115,347,156 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
T |
C |
11: 65,846,074 (GRCm39) |
E2988G |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,481,388 (GRCm39) |
I536M |
probably benign |
Het |
| Drc7 |
T |
C |
8: 95,797,910 (GRCm39) |
Y443H |
probably damaging |
Het |
| Ecel1 |
A |
G |
1: 87,082,564 (GRCm39) |
S50P |
probably benign |
Het |
| Esco1 |
T |
A |
18: 10,594,794 (GRCm39) |
Q164L |
possibly damaging |
Het |
| Exosc7 |
A |
G |
9: 122,961,077 (GRCm39) |
D248G |
probably benign |
Het |
| Galnt3 |
A |
G |
2: 65,932,875 (GRCm39) |
L201P |
probably damaging |
Het |
| Hand2 |
C |
A |
8: 57,775,071 (GRCm39) |
H44N |
probably benign |
Het |
| Kcnq1 |
C |
T |
7: 142,748,064 (GRCm39) |
P411S |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,443,086 (GRCm39) |
D429G |
probably benign |
Het |
| Magi3 |
A |
G |
3: 103,992,536 (GRCm39) |
I312T |
possibly damaging |
Het |
| Mansc4 |
A |
T |
6: 146,988,371 (GRCm39) |
I31N |
probably damaging |
Het |
| Mill2 |
T |
A |
7: 18,590,521 (GRCm39) |
D200E |
possibly damaging |
Het |
| Or5d47 |
G |
A |
2: 87,804,385 (GRCm39) |
A208V |
probably benign |
Het |
| Pde4d |
A |
G |
13: 109,769,435 (GRCm39) |
K41R |
probably benign |
Het |
| Pik3r5 |
G |
A |
11: 68,381,443 (GRCm39) |
D210N |
possibly damaging |
Het |
| Plcl1 |
C |
T |
1: 55,735,907 (GRCm39) |
T416I |
probably damaging |
Het |
| Plekhd1 |
T |
C |
12: 80,754,031 (GRCm39) |
Y166H |
probably damaging |
Het |
| Prrc1 |
A |
G |
18: 57,522,346 (GRCm39) |
T393A |
probably damaging |
Het |
| Scaper |
A |
T |
9: 55,791,260 (GRCm39) |
C213S |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,827,461 (GRCm39) |
I298V |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,075,693 (GRCm39) |
D31E |
probably benign |
Het |
| Stra6l |
G |
A |
4: 45,860,041 (GRCm39) |
|
probably null |
Het |
| Tnpo3 |
A |
T |
6: 29,572,702 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,513,877 (GRCm39) |
Y1231H |
probably damaging |
Het |
| Ush2a |
C |
A |
1: 188,183,999 (GRCm39) |
Y1434* |
probably null |
Het |
| Zfp69 |
T |
C |
4: 120,788,394 (GRCm39) |
Y307C |
probably benign |
Het |
|
| Other mutations in Ddx10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00763:Ddx10
|
APN |
9 |
53,071,326 (GRCm39) |
splice site |
probably benign |
|
|
IGL01111:Ddx10
|
APN |
9 |
53,071,248 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01773:Ddx10
|
APN |
9 |
53,115,430 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01837:Ddx10
|
APN |
9 |
53,140,498 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02036:Ddx10
|
APN |
9 |
53,115,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02236:Ddx10
|
APN |
9 |
53,146,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02939:Ddx10
|
APN |
9 |
53,115,579 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL03294:Ddx10
|
APN |
9 |
53,028,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0279:Ddx10
|
UTSW |
9 |
53,146,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1439:Ddx10
|
UTSW |
9 |
53,151,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1501:Ddx10
|
UTSW |
9 |
53,145,297 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1529:Ddx10
|
UTSW |
9 |
53,028,499 (GRCm39) |
nonsense |
probably null |
|
|
R1548:Ddx10
|
UTSW |
9 |
53,060,861 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1717:Ddx10
|
UTSW |
9 |
53,071,253 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1720:Ddx10
|
UTSW |
9 |
53,149,371 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Ddx10
|
UTSW |
9 |
53,118,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Ddx10
|
UTSW |
9 |
53,151,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2007:Ddx10
|
UTSW |
9 |
53,124,578 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2073:Ddx10
|
UTSW |
9 |
53,151,805 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2075:Ddx10
|
UTSW |
9 |
53,151,805 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2133:Ddx10
|
UTSW |
9 |
53,060,812 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4660:Ddx10
|
UTSW |
9 |
53,147,698 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4668:Ddx10
|
UTSW |
9 |
53,010,513 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4706:Ddx10
|
UTSW |
9 |
53,145,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4814:Ddx10
|
UTSW |
9 |
53,115,405 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5394:Ddx10
|
UTSW |
9 |
53,145,157 (GRCm39) |
nonsense |
probably null |
|
|
R5655:Ddx10
|
UTSW |
9 |
53,120,987 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5874:Ddx10
|
UTSW |
9 |
53,140,498 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6341:Ddx10
|
UTSW |
9 |
53,115,551 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6801:Ddx10
|
UTSW |
9 |
53,159,207 (GRCm39) |
nonsense |
probably null |
|
|
R6994:Ddx10
|
UTSW |
9 |
53,115,411 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7155:Ddx10
|
UTSW |
9 |
53,028,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7380:Ddx10
|
UTSW |
9 |
53,151,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7753:Ddx10
|
UTSW |
9 |
53,136,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8101:Ddx10
|
UTSW |
9 |
53,136,820 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8782:Ddx10
|
UTSW |
9 |
53,146,588 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8962:Ddx10
|
UTSW |
9 |
53,149,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Ddx10
|
UTSW |
9 |
53,140,534 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8999:Ddx10
|
UTSW |
9 |
53,140,534 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9283:Ddx10
|
UTSW |
9 |
53,146,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0019:Ddx10
|
UTSW |
9 |
53,145,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0063:Ddx10
|
UTSW |
9 |
53,136,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Ddx10
|
UTSW |
9 |
53,115,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACATACATGCCACAGAGTTTC -3'
(R):5'- GTCCACTGTGTCAAATTCGAG -3'
Sequencing Primer
(F):5'- ACTGCAGACTACCAGGTTTG -3'
(R):5'- GTTTGTTAGCAGAGATGTGA -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation