Incidental Mutation 'R3763:Ddx18'
| ID |
270576 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx18
|
| Ensembl Gene |
ENSMUSG00000001674 |
| Gene Name |
DEAD box helicase 18 |
| Synonyms |
2310005B10Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 |
| MMRRC Submission |
040873-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R3763 (G1)
|
| Quality Score |
173 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
121481564-121495709 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 121489106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 314
(Y314H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000001724
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001724]
|
| AlphaFold |
Q8K363 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001724
AA Change: Y314H
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000001724
Gene: ENSMUSG00000001674
AA Change: Y314H
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
2 |
32 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
36 |
75 |
1.67e-5 |
PROSPERO |
|
internal_repeat_1
|
66 |
105 |
1.67e-5 |
PROSPERO |
|
low complexity region
|
109 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
DEXDc
|
188 |
393 |
1.95e-56 |
SMART |
|
low complexity region
|
401 |
417 |
N/A |
INTRINSIC |
|
HELICc
|
429 |
510 |
2.84e-26 |
SMART |
|
DUF4217
|
550 |
613 |
1.65e-26 |
SMART |
|
low complexity region
|
620 |
638 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131471
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134417
|
| SMART Domains |
Protein: ENSMUSP00000114149
Gene: ENSMUSG00000001674
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
2 |
47 |
2e-22 |
BLAST |
|
HELICc
|
65 |
146 |
2.84e-26 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148809
|
| Meta Mutation Damage Score |
0.3892 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| 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 is activated by Myc protein. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,760,331 (GRCm39) |
E29G |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,291,770 (GRCm39) |
|
probably benign |
Het |
| AW146154 |
A |
G |
7: 41,129,794 (GRCm39) |
C441R |
probably damaging |
Het |
| Cacna1a |
T |
C |
8: 85,310,271 (GRCm39) |
V1443A |
possibly damaging |
Het |
| Commd1 |
T |
A |
11: 22,924,102 (GRCm39) |
F292Y |
probably benign |
Het |
| Ct45a |
C |
T |
X: 55,590,568 (GRCm39) |
V78I |
probably benign |
Het |
| Dna2 |
C |
T |
10: 62,802,576 (GRCm39) |
T898I |
probably damaging |
Het |
| Epc1 |
C |
A |
18: 6,440,091 (GRCm39) |
V59L |
possibly damaging |
Het |
| Etv6 |
C |
A |
6: 134,239,975 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
A |
G |
15: 84,937,998 (GRCm39) |
D293G |
possibly damaging |
Het |
| Gzmn |
A |
C |
14: 56,404,361 (GRCm39) |
S159A |
probably benign |
Het |
| Insc |
A |
G |
7: 114,390,207 (GRCm39) |
D26G |
probably damaging |
Het |
| L1td1 |
A |
G |
4: 98,626,072 (GRCm39) |
R756G |
probably damaging |
Het |
| Ltk |
A |
G |
2: 119,582,318 (GRCm39) |
L499P |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,923,927 (GRCm39) |
L291M |
probably damaging |
Het |
| Nefm |
G |
T |
14: 68,361,797 (GRCm39) |
R156S |
probably damaging |
Het |
| Nppc |
T |
A |
1: 86,597,580 (GRCm39) |
N63Y |
probably damaging |
Het |
| Or5p79 |
A |
T |
7: 108,221,924 (GRCm39) |
I302F |
probably damaging |
Het |
| Or6c69 |
A |
G |
10: 129,747,314 (GRCm39) |
S278P |
probably damaging |
Het |
| Pcdhb7 |
T |
C |
18: 37,474,936 (GRCm39) |
V24A |
probably benign |
Het |
| Pcm1 |
C |
A |
8: 41,733,114 (GRCm39) |
Q787K |
probably damaging |
Het |
| Prg3 |
A |
G |
2: 84,823,334 (GRCm39) |
K170E |
possibly damaging |
Het |
| Slc25a54 |
T |
C |
3: 109,019,370 (GRCm39) |
S325P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,563,286 (GRCm39) |
V671A |
probably benign |
Het |
| Spock3 |
T |
A |
8: 63,597,049 (GRCm39) |
|
probably null |
Het |
| Stk-ps2 |
G |
A |
1: 46,069,081 (GRCm39) |
|
noncoding transcript |
Het |
| Svep1 |
T |
G |
4: 58,084,833 (GRCm39) |
D1835A |
possibly damaging |
Het |
| Tmcc3 |
A |
G |
10: 94,415,179 (GRCm39) |
T294A |
probably benign |
Het |
| Tsen54 |
A |
G |
11: 115,711,237 (GRCm39) |
N62S |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r18 |
G |
A |
5: 151,508,644 (GRCm39) |
A160V |
probably damaging |
Het |
| Wnk4 |
T |
C |
11: 101,160,114 (GRCm39) |
V661A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,468,404 (GRCm39) |
Y2854C |
probably damaging |
Het |
| Zfp563 |
G |
T |
17: 33,323,902 (GRCm39) |
E166* |
probably null |
Het |
| Zfp687 |
T |
A |
3: 94,919,391 (GRCm39) |
N127I |
probably damaging |
Het |
| Zfp958 |
T |
A |
8: 4,676,226 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Ddx18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Ddx18
|
APN |
1 |
121,492,315 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01999:Ddx18
|
APN |
1 |
121,489,457 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL03056:Ddx18
|
APN |
1 |
121,492,264 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03388:Ddx18
|
APN |
1 |
121,493,652 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R0550:Ddx18
|
UTSW |
1 |
121,483,104 (GRCm39) |
missense |
probably benign |
0.40 |
|
R1883:Ddx18
|
UTSW |
1 |
121,495,645 (GRCm39) |
start gained |
probably benign |
|
|
R1940:Ddx18
|
UTSW |
1 |
121,482,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2169:Ddx18
|
UTSW |
1 |
121,486,138 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3113:Ddx18
|
UTSW |
1 |
121,493,877 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3414:Ddx18
|
UTSW |
1 |
121,489,878 (GRCm39) |
missense |
probably benign |
|
|
R4011:Ddx18
|
UTSW |
1 |
121,489,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4293:Ddx18
|
UTSW |
1 |
121,489,121 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4333:Ddx18
|
UTSW |
1 |
121,492,331 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4964:Ddx18
|
UTSW |
1 |
121,493,823 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5160:Ddx18
|
UTSW |
1 |
121,493,608 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5187:Ddx18
|
UTSW |
1 |
121,489,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5259:Ddx18
|
UTSW |
1 |
121,495,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5656:Ddx18
|
UTSW |
1 |
121,489,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7949:Ddx18
|
UTSW |
1 |
121,483,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8291:Ddx18
|
UTSW |
1 |
121,487,904 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8318:Ddx18
|
UTSW |
1 |
121,493,816 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9053:Ddx18
|
UTSW |
1 |
121,489,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9114:Ddx18
|
UTSW |
1 |
121,489,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9621:Ddx18
|
UTSW |
1 |
121,489,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGGCCCACATTCCTCATG -3'
(R):5'- CATGCAGACCTTTGGTGTTC -3'
Sequencing Primer
(F):5'- ACATTCCTCATGTGGCCATAG -3'
(R):5'- TTCTCAAGGAGCTGATGACGC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation