Incidental Mutation 'IGL02600:Ddx27'
| ID |
300038 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx27
|
| Ensembl Gene |
ENSMUSG00000017999 |
| Gene Name |
DEAD box helicase 27 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
IGL02600
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
166857233-166876865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 166868124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 319
(H319R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018143
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018143]
[ENSMUST00000150571]
[ENSMUST00000176066]
|
| AlphaFold |
Q921N6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018143
AA Change: H319R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: H319R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
DEXDc
|
203 |
404 |
2.24e-56 |
SMART |
|
HELICc
|
443 |
524 |
1.71e-29 |
SMART |
|
coiled coil region
|
577 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150571
|
| SMART Domains |
Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
Pfam:DEAD
|
208 |
292 |
2e-18 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176066
|
| SMART Domains |
Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
198 |
N/A |
INTRINSIC |
|
Pfam:DEAD
|
236 |
309 |
1e-17 |
PFAM |
|
| Coding Region Coverage |
|
| 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 this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
G |
11: 110,200,264 (GRCm39) |
I483L |
probably benign |
Het |
| Bmpr1b |
A |
C |
3: 141,546,488 (GRCm39) |
M466R |
probably damaging |
Het |
| Casp8ap2 |
G |
A |
4: 32,630,246 (GRCm39) |
D42N |
probably null |
Het |
| Crebbp |
T |
A |
16: 3,972,882 (GRCm39) |
T271S |
probably benign |
Het |
| Dync2i2 |
T |
A |
2: 29,923,314 (GRCm39) |
D263V |
possibly damaging |
Het |
| Gckr |
A |
G |
5: 31,462,374 (GRCm39) |
M236V |
probably benign |
Het |
| Gm28044 |
A |
C |
13: 67,469,025 (GRCm39) |
|
probably benign |
Het |
| Gmnc |
T |
A |
16: 26,781,641 (GRCm39) |
|
probably benign |
Het |
| Gpx3 |
C |
A |
11: 54,800,433 (GRCm39) |
D210E |
possibly damaging |
Het |
| Lpin2 |
A |
G |
17: 71,545,693 (GRCm39) |
N513S |
probably damaging |
Het |
| Myh3 |
C |
T |
11: 66,974,227 (GRCm39) |
R170C |
probably damaging |
Het |
| Nrxn3 |
G |
T |
12: 89,478,682 (GRCm39) |
|
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,101,449 (GRCm39) |
I373V |
probably benign |
Het |
| Or13a21 |
T |
C |
7: 139,998,862 (GRCm39) |
T275A |
probably benign |
Het |
| Or6b6 |
A |
G |
7: 106,570,756 (GRCm39) |
I265T |
possibly damaging |
Het |
| Padi3 |
A |
G |
4: 140,525,467 (GRCm39) |
V172A |
probably benign |
Het |
| Pdzd2 |
C |
A |
15: 12,411,105 (GRCm39) |
G554W |
probably damaging |
Het |
| Plekhg6 |
G |
A |
6: 125,347,563 (GRCm39) |
R464* |
probably null |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Serinc1 |
A |
G |
10: 57,399,127 (GRCm39) |
S259P |
probably benign |
Het |
| Slfn4 |
T |
A |
11: 83,077,832 (GRCm39) |
S207T |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,790,123 (GRCm39) |
G548R |
probably damaging |
Het |
| Tmem229b-ps |
T |
C |
10: 53,351,052 (GRCm39) |
|
noncoding transcript |
Het |
| Ttn |
G |
A |
2: 76,570,509 (GRCm39) |
P26795S |
probably damaging |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,829 (GRCm39) |
M661V |
probably benign |
Het |
| Ybey |
G |
A |
10: 76,300,165 (GRCm39) |
|
probably benign |
Het |
| Zbtb17 |
A |
G |
4: 141,194,196 (GRCm39) |
D715G |
possibly damaging |
Het |
| Zgrf1 |
T |
C |
3: 127,394,623 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ddx27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00656:Ddx27
|
APN |
2 |
166,861,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01610:Ddx27
|
APN |
2 |
166,863,964 (GRCm39) |
splice site |
probably benign |
|
|
IGL01724:Ddx27
|
APN |
2 |
166,870,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02035:Ddx27
|
APN |
2 |
166,871,432 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02141:Ddx27
|
APN |
2 |
166,862,443 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02402:Ddx27
|
APN |
2 |
166,857,245 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL02882:Ddx27
|
APN |
2 |
166,869,833 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03177:Ddx27
|
APN |
2 |
166,869,840 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R1938:Ddx27
|
UTSW |
2 |
166,876,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Ddx27
|
UTSW |
2 |
166,875,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2038:Ddx27
|
UTSW |
2 |
166,875,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Ddx27
|
UTSW |
2 |
166,869,684 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3103:Ddx27
|
UTSW |
2 |
166,868,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Ddx27
|
UTSW |
2 |
166,869,640 (GRCm39) |
nonsense |
probably null |
|
|
R4586:Ddx27
|
UTSW |
2 |
166,861,904 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4737:Ddx27
|
UTSW |
2 |
166,871,219 (GRCm39) |
missense |
probably benign |
0.37 |
|
R5350:Ddx27
|
UTSW |
2 |
166,869,780 (GRCm39) |
unclassified |
probably benign |
|
|
R5568:Ddx27
|
UTSW |
2 |
166,871,439 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5573:Ddx27
|
UTSW |
2 |
166,859,806 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5606:Ddx27
|
UTSW |
2 |
166,861,886 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6026:Ddx27
|
UTSW |
2 |
166,875,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6699:Ddx27
|
UTSW |
2 |
166,862,423 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6845:Ddx27
|
UTSW |
2 |
166,864,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Ddx27
|
UTSW |
2 |
166,857,297 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7352:Ddx27
|
UTSW |
2 |
166,871,433 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7765:Ddx27
|
UTSW |
2 |
166,869,879 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8795:Ddx27
|
UTSW |
2 |
166,859,730 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9220:Ddx27
|
UTSW |
2 |
166,871,433 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9347:Ddx27
|
UTSW |
2 |
166,861,950 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1177:Ddx27
|
UTSW |
2 |
166,875,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation