Incidental Mutation 'R5606:Ddx27'
| ID |
439283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx27
|
| Ensembl Gene |
ENSMUSG00000017999 |
| Gene Name |
DEAD box helicase 27 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 |
| MMRRC Submission |
043157-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5606 (G1)
|
| Quality Score |
208 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
166857233-166876865 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 166861886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 129
(D129E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135815
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018143]
[ENSMUST00000150571]
[ENSMUST00000176066]
|
| AlphaFold |
Q921N6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018143
AA Change: D129E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
AA Change: D129E
| 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 |
probably benign
Transcript: ENSMUST00000150571
AA Change: D129E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135265
Gene: ENSMUSG00000017999
AA Change: D129E
| 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
AA Change: D129E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000135815
Gene: ENSMUSG00000017999
AA Change: D129E
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.1%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1a7 |
A |
G |
19: 20,699,731 (GRCm39) |
S75P |
probably damaging |
Het |
| Ankib1 |
A |
T |
5: 3,751,907 (GRCm39) |
I711N |
probably damaging |
Het |
| Ankmy2 |
A |
G |
12: 36,215,920 (GRCm39) |
N40S |
probably benign |
Het |
| Armc8 |
T |
C |
9: 99,418,315 (GRCm39) |
K80E |
probably benign |
Het |
| Blm |
C |
A |
7: 80,110,580 (GRCm39) |
|
probably null |
Het |
| Cand1 |
C |
A |
10: 119,047,359 (GRCm39) |
Q710H |
possibly damaging |
Het |
| Ckap2l |
A |
T |
2: 129,127,959 (GRCm39) |
I73N |
probably damaging |
Het |
| Dnm3 |
T |
C |
1: 162,113,587 (GRCm39) |
E491G |
probably damaging |
Het |
| Fgd6 |
C |
A |
10: 93,974,190 (GRCm39) |
Y1310* |
probably null |
Het |
| Hnrnph3 |
C |
T |
10: 62,855,222 (GRCm39) |
R21H |
possibly damaging |
Het |
| Hs3st4 |
C |
A |
7: 123,996,365 (GRCm39) |
Q344K |
probably damaging |
Het |
| Hyal3 |
T |
C |
9: 107,462,265 (GRCm39) |
S100P |
probably benign |
Het |
| Map3k19 |
G |
A |
1: 127,750,694 (GRCm39) |
R886C |
probably benign |
Het |
| Mmrn2 |
G |
A |
14: 34,119,581 (GRCm39) |
D187N |
probably damaging |
Het |
| Myo5c |
G |
A |
9: 75,182,790 (GRCm39) |
A810T |
probably damaging |
Het |
| Noxa1 |
T |
A |
2: 24,976,292 (GRCm39) |
E332V |
possibly damaging |
Het |
| Or10al7 |
T |
C |
17: 38,365,693 (GRCm39) |
T264A |
probably damaging |
Het |
| Or12j5 |
T |
A |
7: 140,083,713 (GRCm39) |
I220F |
probably damaging |
Het |
| Or51r1 |
T |
C |
7: 102,228,481 (GRCm39) |
S260P |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,683,395 (GRCm39) |
M118T |
probably benign |
Het |
| Parg |
T |
A |
14: 31,984,693 (GRCm39) |
V241E |
probably damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,610,101 (GRCm39) |
V391D |
probably damaging |
Het |
| Plch1 |
A |
T |
3: 63,648,108 (GRCm39) |
V421E |
probably benign |
Het |
| Slc27a2 |
C |
T |
2: 126,406,610 (GRCm39) |
A98V |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,047,468 (GRCm39) |
H1704L |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,977,245 (GRCm39) |
P258S |
possibly damaging |
Het |
| Thoc2l |
T |
C |
5: 104,669,744 (GRCm39) |
I1422T |
probably benign |
Het |
| Tlr11 |
T |
C |
14: 50,599,717 (GRCm39) |
C568R |
probably benign |
Het |
| Tmem260 |
T |
A |
14: 48,722,437 (GRCm39) |
M324K |
probably damaging |
Het |
| Tmprss11g |
T |
A |
5: 86,635,269 (GRCm39) |
T402S |
probably damaging |
Het |
| Trim21 |
C |
G |
7: 102,208,813 (GRCm39) |
R302P |
probably damaging |
Het |
| Uox |
T |
A |
3: 146,316,057 (GRCm39) |
Y21* |
probably null |
Het |
| Vmn1r74 |
A |
G |
7: 11,580,822 (GRCm39) |
M41V |
probably benign |
Het |
| Vmn2r59 |
A |
C |
7: 41,695,318 (GRCm39) |
S365A |
probably benign |
Het |
| Zfp345 |
A |
T |
2: 150,316,788 (GRCm39) |
Y6* |
probably null |
Het |
| Zpld2 |
A |
C |
4: 133,927,523 (GRCm39) |
V410G |
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 |
|
|
IGL02600:Ddx27
|
APN |
2 |
166,868,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAGTTCAGCATCGCTTC -3'
(R):5'- ACTCCGTGGAGCTGAGAATG -3'
Sequencing Primer
(F):5'- GAGTTCAGCATCGCTTCTCTTAGG -3'
(R):5'- CCCTGATATGGTGGCCAGTAAAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation