Incidental Mutation 'R5348:Ddx55'
| ID |
422729 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx55
|
| Ensembl Gene |
ENSMUSG00000029389 |
| Gene Name |
DEAD box helicase 55 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 55, 2810021H22Rik |
| MMRRC Submission |
042927-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5348 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
124690927-124707723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 124692628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 44
(M44K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060226]
[ENSMUST00000071057]
[ENSMUST00000111438]
[ENSMUST00000131631]
[ENSMUST00000135464]
|
| AlphaFold |
Q6ZPL9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060226
|
| SMART Domains |
Protein: ENSMUSP00000054834
Gene: ENSMUSG00000029390
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
|
EMP24_GP25L
|
20 |
196 |
3e-70 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071057
AA Change: M44K
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000070279
Gene: ENSMUSG00000029389
AA Change: M44K
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
28 |
245 |
3.15e-51 |
SMART |
|
HELICc
|
281 |
363 |
3.69e-25 |
SMART |
|
DUF4217
|
402 |
465 |
1.44e-26 |
SMART |
|
low complexity region
|
491 |
506 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111438
AA Change: M44K
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000107065
Gene: ENSMUSG00000029389
AA Change: M44K
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
28 |
245 |
3.15e-51 |
SMART |
|
HELICc
|
281 |
363 |
3.69e-25 |
SMART |
|
DUF4217
|
398 |
461 |
1.44e-26 |
SMART |
|
low complexity region
|
487 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
536 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131631
AA Change: M44K
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143462
Gene: ENSMUSG00000029389
AA Change: M44K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DEAD
|
33 |
125 |
6.4e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135464
|
| SMART Domains |
Protein: ENSMUSP00000120809
Gene: ENSMUSG00000029390
| Domain | Start | End | E-Value | Type |
|---|
|
EMP24_GP25L
|
1 |
107 |
3.11e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196021
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of protein family containing a characteristic Asp-Glu-Ala-Asp (DEAD) motif. These proteins are putative RNA helicases, and may be involved in a range of nuclear processes including translational initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Multiple alternatively spliced transcript variants have been found for this gene. Pseudogenes have been identified on chromosomes 1 and 12. [provided by RefSeq, Feb 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,978,634 (GRCm39) |
C275S |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,295 (GRCm39) |
E1331G |
probably damaging |
Het |
| Cdk12 |
T |
A |
11: 98,095,118 (GRCm39) |
S309T |
probably benign |
Het |
| Cep295nl |
T |
C |
11: 118,224,425 (GRCm39) |
R140G |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,470,155 (GRCm39) |
V485A |
probably damaging |
Het |
| Chn2 |
A |
G |
6: 54,277,203 (GRCm39) |
I279V |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,004,041 (GRCm39) |
S1032P |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 118,575,592 (GRCm39) |
H143Q |
probably benign |
Het |
| Fbxo10 |
A |
G |
4: 45,058,934 (GRCm39) |
W268R |
probably damaging |
Het |
| Gmfg |
A |
G |
7: 28,145,819 (GRCm39) |
D86G |
probably benign |
Het |
| Gpd1 |
T |
C |
15: 99,620,021 (GRCm39) |
V273A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,985,393 (GRCm39) |
I158T |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,378,191 (GRCm39) |
F53L |
possibly damaging |
Het |
| Kctd21 |
A |
G |
7: 96,997,177 (GRCm39) |
I217V |
probably benign |
Het |
| Lrfn2 |
A |
G |
17: 49,403,718 (GRCm39) |
T614A |
probably benign |
Het |
| Lrrc7 |
T |
A |
3: 157,880,963 (GRCm39) |
D491V |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,972 (GRCm39) |
E916G |
probably damaging |
Het |
| Nf1 |
C |
T |
11: 79,455,725 (GRCm39) |
T550I |
probably damaging |
Het |
| Nsd1 |
A |
G |
13: 55,460,147 (GRCm39) |
T2125A |
probably benign |
Het |
| Olfml2b |
A |
G |
1: 170,489,995 (GRCm39) |
E205G |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,150 (GRCm39) |
L301I |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,972 (GRCm39) |
T224A |
possibly damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,545,495 (GRCm39) |
E1172G |
probably damaging |
Het |
| Ppip5k2 |
A |
G |
1: 97,675,317 (GRCm39) |
L362S |
possibly damaging |
Het |
| Ppp1r9b |
T |
A |
11: 94,887,438 (GRCm39) |
Y59* |
probably null |
Het |
| Pramel12 |
T |
C |
4: 143,143,351 (GRCm39) |
L39P |
probably damaging |
Het |
| Rapgef5 |
T |
A |
12: 117,652,346 (GRCm39) |
S76R |
probably benign |
Het |
| Rnh1 |
A |
T |
7: 140,743,321 (GRCm39) |
V218D |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Slc4a7 |
G |
T |
14: 14,786,310 (GRCm38) |
V999L |
probably benign |
Het |
| Slco4c1 |
A |
T |
1: 96,770,254 (GRCm39) |
I270N |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,881,765 (GRCm39) |
Y498C |
probably damaging |
Het |
| Tfip11 |
A |
G |
5: 112,483,534 (GRCm39) |
S650G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,608,638 (GRCm39) |
T17793A |
possibly damaging |
Het |
| Ulk2 |
T |
C |
11: 61,674,439 (GRCm39) |
T856A |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,792,459 (GRCm39) |
G3726E |
probably damaging |
Het |
|
| Other mutations in Ddx55 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02237:Ddx55
|
APN |
5 |
124,705,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03356:Ddx55
|
APN |
5 |
124,692,816 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0100:Ddx55
|
UTSW |
5 |
124,694,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0100:Ddx55
|
UTSW |
5 |
124,694,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0329:Ddx55
|
UTSW |
5 |
124,697,210 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0401:Ddx55
|
UTSW |
5 |
124,706,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1604:Ddx55
|
UTSW |
5 |
124,697,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1760:Ddx55
|
UTSW |
5 |
124,706,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2002:Ddx55
|
UTSW |
5 |
124,704,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2292:Ddx55
|
UTSW |
5 |
124,706,140 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4677:Ddx55
|
UTSW |
5 |
124,705,997 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4735:Ddx55
|
UTSW |
5 |
124,704,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4745:Ddx55
|
UTSW |
5 |
124,705,028 (GRCm39) |
nonsense |
probably null |
|
|
R4941:Ddx55
|
UTSW |
5 |
124,706,779 (GRCm39) |
nonsense |
probably null |
|
|
R5272:Ddx55
|
UTSW |
5 |
124,696,092 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5514:Ddx55
|
UTSW |
5 |
124,694,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5801:Ddx55
|
UTSW |
5 |
124,704,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5806:Ddx55
|
UTSW |
5 |
124,697,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5869:Ddx55
|
UTSW |
5 |
124,706,745 (GRCm39) |
missense |
probably benign |
|
|
R5909:Ddx55
|
UTSW |
5 |
124,704,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6594:Ddx55
|
UTSW |
5 |
124,704,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6737:Ddx55
|
UTSW |
5 |
124,691,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7257:Ddx55
|
UTSW |
5 |
124,698,784 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7262:Ddx55
|
UTSW |
5 |
124,704,919 (GRCm39) |
missense |
probably benign |
|
|
R8049:Ddx55
|
UTSW |
5 |
124,694,821 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8078:Ddx55
|
UTSW |
5 |
124,704,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8093:Ddx55
|
UTSW |
5 |
124,694,883 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8465:Ddx55
|
UTSW |
5 |
124,697,184 (GRCm39) |
splice site |
probably null |
|
|
R8944:Ddx55
|
UTSW |
5 |
124,706,788 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9007:Ddx55
|
UTSW |
5 |
124,697,370 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9305:Ddx55
|
UTSW |
5 |
124,705,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9561:Ddx55
|
UTSW |
5 |
124,706,707 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACCCTTTGTGGTGACTGG -3'
(R):5'- GGCTGGACTCAAGTTTATCCAG -3'
Sequencing Primer
(F):5'- ACTGGTTTGCTGGAGATGCCC -3'
(R):5'- GGACTCAAGTTTATCCAGCTTCTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation