Incidental Mutation 'R5278:Ddx46'
| ID |
404066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx46
|
| Ensembl Gene |
ENSMUSG00000021500 |
| Gene Name |
DEAD box helicase 46 |
| Synonyms |
8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik |
| MMRRC Submission |
042865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R5278 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55782840-55829069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55823851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 915
(E915G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097078
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099479]
[ENSMUST00000172272]
[ENSMUST00000223736]
|
| AlphaFold |
Q569Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099479
AA Change: E915G
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: E915G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
109 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
110 |
348 |
4e-76 |
BLAST |
|
DEXDc
|
391 |
592 |
3.27e-49 |
SMART |
|
HELICc
|
629 |
710 |
1.55e-27 |
SMART |
|
low complexity region
|
760 |
776 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
813 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
855 |
894 |
6.68e-7 |
PROSPERO |
|
low complexity region
|
911 |
925 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172272
AA Change: E919G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: E919G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
109 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
110 |
348 |
5e-76 |
BLAST |
|
DEXDc
|
391 |
596 |
8.03e-67 |
SMART |
|
HELICc
|
633 |
714 |
1.55e-27 |
SMART |
|
low complexity region
|
764 |
780 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
817 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
859 |
898 |
1.04e-6 |
PROSPERO |
|
low complexity region
|
915 |
929 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223736
AA Change: E919G
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231097
|
| Meta Mutation Damage Score |
0.0887 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.9%
- 20x: 96.6%
|
| Validation Efficiency |
98% (50/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. 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. The protein encoded by this gene is a component of the 17S U2 snRNP complex; it plays an important role in pre-mRNA splicing. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
C |
T |
5: 35,745,500 (GRCm39) |
|
probably benign |
Het |
| Acvr2b |
G |
A |
9: 119,261,555 (GRCm39) |
V383I |
probably damaging |
Het |
| Akap12 |
T |
C |
10: 4,304,792 (GRCm39) |
M534T |
probably benign |
Het |
| Akp3 |
G |
A |
1: 87,052,888 (GRCm39) |
E26K |
probably benign |
Het |
| Alcam |
A |
G |
16: 52,094,638 (GRCm39) |
I371T |
probably benign |
Het |
| Ap2a1 |
T |
C |
7: 44,552,203 (GRCm39) |
T794A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,968,457 (GRCm39) |
P349S |
probably benign |
Het |
| Asb7 |
G |
T |
7: 66,328,933 (GRCm39) |
Q36K |
possibly damaging |
Het |
| Asl |
A |
G |
5: 130,047,672 (GRCm39) |
|
probably null |
Het |
| Atp13a2 |
T |
A |
4: 140,728,129 (GRCm39) |
I574N |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,122,251 (GRCm39) |
I138N |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 30,074,881 (GRCm39) |
|
probably null |
Het |
| Ccdc9 |
C |
T |
7: 16,012,306 (GRCm39) |
W1* |
probably null |
Het |
| Cdh18 |
T |
A |
15: 23,474,244 (GRCm39) |
S705T |
probably benign |
Het |
| Ces5a |
A |
T |
8: 94,252,266 (GRCm39) |
W209R |
probably damaging |
Het |
| Chpf2 |
T |
A |
5: 24,793,088 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
A |
17: 46,821,799 (GRCm39) |
H1892L |
probably damaging |
Het |
| Cxcl13 |
A |
G |
5: 96,106,586 (GRCm39) |
T53A |
probably benign |
Het |
| Cyp2s1 |
T |
A |
7: 25,505,309 (GRCm39) |
Y385F |
possibly damaging |
Het |
| Elovl3 |
G |
A |
19: 46,122,540 (GRCm39) |
V113I |
probably benign |
Het |
| Fam53c |
A |
T |
18: 34,895,671 (GRCm39) |
|
probably benign |
Het |
| Fbxw15 |
A |
T |
9: 109,384,752 (GRCm39) |
F349L |
probably benign |
Het |
| Fuz |
C |
T |
7: 44,545,701 (GRCm39) |
P9L |
probably benign |
Het |
| Igf1r |
C |
T |
7: 67,843,166 (GRCm39) |
T759M |
possibly damaging |
Het |
| Impg2 |
G |
A |
16: 56,041,880 (GRCm39) |
D175N |
probably benign |
Het |
| Jade1 |
G |
T |
3: 41,543,444 (GRCm39) |
R43L |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,919,077 (GRCm39) |
E816G |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,803,641 (GRCm39) |
D262E |
probably damaging |
Het |
| Mrpl48 |
A |
G |
7: 100,201,790 (GRCm39) |
V156A |
probably damaging |
Het |
| Mst1 |
A |
C |
9: 107,959,414 (GRCm39) |
K233N |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,225,390 (GRCm39) |
I252V |
probably benign |
Het |
| Nox4 |
T |
C |
7: 87,021,134 (GRCm39) |
W449R |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,655 (GRCm39) |
L221P |
probably damaging |
Het |
| Or2l5 |
A |
T |
16: 19,334,128 (GRCm39) |
L86* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,056,622 (GRCm39) |
L351P |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,609,973 (GRCm39) |
|
probably null |
Het |
| Peg10 |
CCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATCC |
CCATCAGGATGCACATCAGGATCC |
6: 4,756,442 (GRCm39) |
|
probably benign |
Het |
| Polr3e |
T |
A |
7: 120,522,184 (GRCm39) |
I10K |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,532,838 (GRCm39) |
I1489T |
probably damaging |
Het |
| Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2b |
A |
G |
11: 32,331,447 (GRCm39) |
D57G |
probably damaging |
Het |
| Shank2 |
G |
A |
7: 143,622,612 (GRCm39) |
|
probably null |
Het |
| Slc15a4 |
A |
T |
5: 127,694,033 (GRCm39) |
V134E |
probably damaging |
Het |
| Slc49a4 |
A |
G |
16: 35,518,358 (GRCm39) |
S452P |
probably damaging |
Het |
| Stxbp5l |
G |
T |
16: 37,007,016 (GRCm39) |
Q726K |
probably benign |
Het |
| Tesk2 |
T |
G |
4: 116,663,133 (GRCm39) |
|
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,458,639 (GRCm39) |
S264P |
probably benign |
Het |
| Tnik |
A |
G |
3: 28,704,209 (GRCm39) |
Q1003R |
probably damaging |
Het |
| Trip12 |
C |
T |
1: 84,739,868 (GRCm39) |
R628H |
probably damaging |
Het |
| Vmn2r69 |
G |
A |
7: 85,060,991 (GRCm39) |
H198Y |
probably benign |
Het |
|
| Other mutations in Ddx46 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01021:Ddx46
|
APN |
13 |
55,814,145 (GRCm39) |
nonsense |
probably null |
|
|
IGL01137:Ddx46
|
APN |
13 |
55,817,530 (GRCm39) |
nonsense |
probably null |
|
|
IGL01432:Ddx46
|
APN |
13 |
55,785,835 (GRCm39) |
splice site |
probably benign |
|
|
IGL01575:Ddx46
|
APN |
13 |
55,801,996 (GRCm39) |
splice site |
probably benign |
|
|
IGL01673:Ddx46
|
APN |
13 |
55,800,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Ddx46
|
APN |
13 |
55,787,683 (GRCm39) |
nonsense |
probably null |
|
|
IGL01945:Ddx46
|
APN |
13 |
55,802,885 (GRCm39) |
nonsense |
probably null |
|
|
IGL02106:Ddx46
|
APN |
13 |
55,825,416 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03288:Ddx46
|
APN |
13 |
55,785,907 (GRCm39) |
missense |
unknown |
|
|
immersion
|
UTSW |
13 |
55,823,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
steeped
|
UTSW |
13 |
55,798,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Ddx46
|
UTSW |
13 |
55,821,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0631:Ddx46
|
UTSW |
13 |
55,787,590 (GRCm39) |
splice site |
probably benign |
|
|
R1082:Ddx46
|
UTSW |
13 |
55,802,909 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1502:Ddx46
|
UTSW |
13 |
55,811,122 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2081:Ddx46
|
UTSW |
13 |
55,821,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2256:Ddx46
|
UTSW |
13 |
55,795,521 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R4366:Ddx46
|
UTSW |
13 |
55,811,049 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4856:Ddx46
|
UTSW |
13 |
55,786,012 (GRCm39) |
missense |
unknown |
|
|
R4886:Ddx46
|
UTSW |
13 |
55,786,012 (GRCm39) |
missense |
unknown |
|
|
R5001:Ddx46
|
UTSW |
13 |
55,800,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Ddx46
|
UTSW |
13 |
55,806,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5258:Ddx46
|
UTSW |
13 |
55,800,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5806:Ddx46
|
UTSW |
13 |
55,811,150 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6627:Ddx46
|
UTSW |
13 |
55,800,748 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6659:Ddx46
|
UTSW |
13 |
55,817,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6838:Ddx46
|
UTSW |
13 |
55,787,748 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7235:Ddx46
|
UTSW |
13 |
55,811,053 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7537:Ddx46
|
UTSW |
13 |
55,798,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7664:Ddx46
|
UTSW |
13 |
55,806,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7673:Ddx46
|
UTSW |
13 |
55,806,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7704:Ddx46
|
UTSW |
13 |
55,821,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7943:Ddx46
|
UTSW |
13 |
55,817,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Ddx46
|
UTSW |
13 |
55,814,029 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8324:Ddx46
|
UTSW |
13 |
55,811,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Ddx46
|
UTSW |
13 |
55,814,033 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9059:Ddx46
|
UTSW |
13 |
55,799,921 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9141:Ddx46
|
UTSW |
13 |
55,823,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9167:Ddx46
|
UTSW |
13 |
55,802,915 (GRCm39) |
missense |
probably null |
1.00 |
|
R9199:Ddx46
|
UTSW |
13 |
55,825,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9295:Ddx46
|
UTSW |
13 |
55,811,599 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9613:Ddx46
|
UTSW |
13 |
55,787,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9703:Ddx46
|
UTSW |
13 |
55,824,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGACACTCTACACAGGACATG -3'
(R):5'- AGCCTAGCAAACAGGTTCTATAC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ACAGGTTCTATACTTTAAGGAAGGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation