Incidental Mutation 'R0964:Ddx24'
| ID |
81588 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx24
|
| Ensembl Gene |
ENSMUSG00000041645 |
| Gene Name |
DEAD box helicase 24 |
| Synonyms |
2510027P10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 24, 1700055J08Rik |
| MMRRC Submission |
039093-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0964 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103374241-103392089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103390166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 275
(R275H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105628
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044923]
[ENSMUST00000110001]
[ENSMUST00000220975]
[ENSMUST00000221211]
[ENSMUST00000223233]
|
| AlphaFold |
Q9ESV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044923
AA Change: R229H
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040890
Gene: ENSMUSG00000041645
AA Change: R229H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
94 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
105 |
114 |
N/A |
INTRINSIC |
|
low complexity region
|
154 |
162 |
N/A |
INTRINSIC |
|
low complexity region
|
168 |
180 |
N/A |
INTRINSIC |
|
DEXDc
|
212 |
541 |
1.14e-39 |
SMART |
|
HELICc
|
601 |
682 |
5.22e-25 |
SMART |
|
low complexity region
|
752 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
775 |
787 |
N/A |
INTRINSIC |
|
low complexity region
|
835 |
852 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110001
AA Change: R275H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105628
Gene: ENSMUSG00000041645
AA Change: R275H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
140 |
147 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
160 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
214 |
226 |
N/A |
INTRINSIC |
|
DEXDc
|
258 |
587 |
1.14e-39 |
SMART |
|
HELICc
|
647 |
728 |
5.22e-25 |
SMART |
|
low complexity region
|
798 |
812 |
N/A |
INTRINSIC |
|
low complexity region
|
821 |
833 |
N/A |
INTRINSIC |
|
low complexity region
|
881 |
898 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220705
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220975
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221211
AA Change: R229H
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223233
|
| Meta Mutation Damage Score |
0.1803 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (55/56) |
| 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 shows little similarity to any of the other known human DEAD box proteins, but shows a high similarity to mouse Ddx24 at the amino acid level. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous knockout is embryonic lethal: embryos die between implantation and placentation. Heterozygous KO animals are viable and fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
| Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
| Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
| Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
| Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,179,413 (GRCm39) |
F973I |
probably damaging |
Het |
| Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
| Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
| Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
| Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
| Ccser2 |
C |
T |
14: 36,630,965 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
| Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
| Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
| Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
| Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
| Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
| Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
| Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
| Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
| Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
| Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
| Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
| Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,635,297 (GRCm39) |
|
probably null |
Het |
| Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
| Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
| Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
| Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
| Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
| Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
| Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
| Sbno2 |
G |
T |
10: 79,920,093 (GRCm39) |
T46N |
possibly damaging |
Het |
| Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
| Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
| Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
| Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
| Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
| Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
| Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
| Uba6 |
T |
C |
5: 86,267,260 (GRCm39) |
I923V |
possibly damaging |
Het |
| Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
| Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
| Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
probably benign |
Het |
|
| Other mutations in Ddx24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02063:Ddx24
|
APN |
12 |
103,384,461 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02102:Ddx24
|
APN |
12 |
103,374,743 (GRCm39) |
intron |
probably benign |
|
|
IGL02225:Ddx24
|
APN |
12 |
103,383,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Ddx24
|
APN |
12 |
103,390,717 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL02325:Ddx24
|
APN |
12 |
103,382,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02568:Ddx24
|
APN |
12 |
103,383,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02666:Ddx24
|
APN |
12 |
103,390,314 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02950:Ddx24
|
APN |
12 |
103,383,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03244:Ddx24
|
APN |
12 |
103,383,864 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
P0028:Ddx24
|
UTSW |
12 |
103,374,634 (GRCm39) |
missense |
probably benign |
|
|
R0195:Ddx24
|
UTSW |
12 |
103,385,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0540:Ddx24
|
UTSW |
12 |
103,385,326 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0607:Ddx24
|
UTSW |
12 |
103,385,326 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0621:Ddx24
|
UTSW |
12 |
103,391,817 (GRCm39) |
intron |
probably benign |
|
|
R1447:Ddx24
|
UTSW |
12 |
103,390,566 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1639:Ddx24
|
UTSW |
12 |
103,377,578 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1909:Ddx24
|
UTSW |
12 |
103,376,241 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2418:Ddx24
|
UTSW |
12 |
103,383,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3706:Ddx24
|
UTSW |
12 |
103,383,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3725:Ddx24
|
UTSW |
12 |
103,383,864 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4436:Ddx24
|
UTSW |
12 |
103,390,233 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4807:Ddx24
|
UTSW |
12 |
103,385,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5568:Ddx24
|
UTSW |
12 |
103,390,547 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R5629:Ddx24
|
UTSW |
12 |
103,391,806 (GRCm39) |
intron |
probably benign |
|
|
R5763:Ddx24
|
UTSW |
12 |
103,383,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5891:Ddx24
|
UTSW |
12 |
103,390,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6059:Ddx24
|
UTSW |
12 |
103,374,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Ddx24
|
UTSW |
12 |
103,390,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6311:Ddx24
|
UTSW |
12 |
103,390,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6408:Ddx24
|
UTSW |
12 |
103,391,819 (GRCm39) |
intron |
probably benign |
|
|
R6648:Ddx24
|
UTSW |
12 |
103,374,634 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7151:Ddx24
|
UTSW |
12 |
103,390,347 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7299:Ddx24
|
UTSW |
12 |
103,385,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7301:Ddx24
|
UTSW |
12 |
103,385,709 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7324:Ddx24
|
UTSW |
12 |
103,382,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Ddx24
|
UTSW |
12 |
103,385,365 (GRCm39) |
nonsense |
probably null |
|
|
R7602:Ddx24
|
UTSW |
12 |
103,382,519 (GRCm39) |
nonsense |
probably null |
|
|
R7734:Ddx24
|
UTSW |
12 |
103,383,819 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8076:Ddx24
|
UTSW |
12 |
103,382,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8466:Ddx24
|
UTSW |
12 |
103,376,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8914:Ddx24
|
UTSW |
12 |
103,390,665 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9484:Ddx24
|
UTSW |
12 |
103,377,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTCCAGCAATGCAGACATGAAG -3'
(R):5'- ATGAAGTCAAAGCGTCCGAGCCAG -3'
Sequencing Primer
(F):5'- TGAAGTAGTGACCTCACATAGAC -3'
(R):5'- GTCACTGCTTGTTCTGATCAAAAGG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation