Incidental Mutation 'IGL01673:Ddx46'
| ID |
103565 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx46
|
| Ensembl Gene |
ENSMUSG00000021500 |
| Gene Name |
DEAD box helicase 46 |
| Synonyms |
8430438J23Rik, DEAD (Asp-Glu-Ala-Asp) box polypeptide 46, 2200005K02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL01673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
55782840-55829069 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55800861 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 339
(V339F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099479]
[ENSMUST00000172272]
[ENSMUST00000223736]
|
| AlphaFold |
Q569Z5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099479
AA Change: V339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097078
Gene: ENSMUSG00000021500
AA Change: V339F
| 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 damaging
Transcript: ENSMUST00000172272
AA Change: V339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133245
Gene: ENSMUSG00000021500
AA Change: V339F
| 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 damaging
Transcript: ENSMUST00000223736
AA Change: V339F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224551
|
| Coding Region Coverage |
|
| 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 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
| Gpn1 |
T |
G |
5: 31,652,179 (GRCm39) |
C21W |
probably damaging |
Het |
| Gpr63 |
A |
T |
4: 25,008,014 (GRCm39) |
Q246L |
probably benign |
Het |
| Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,377 (GRCm39) |
*359C |
probably null |
Het |
| Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,636,307 (GRCm39) |
|
probably benign |
Het |
| Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,641 (GRCm39) |
Q108R |
probably damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
possibly damaging |
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 |
|
|
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 |
|
R5278:Ddx46
|
UTSW |
13 |
55,823,851 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation