Incidental Mutation 'IGL01676:Ddx19a'
| ID |
103655 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ddx19a
|
| Ensembl Gene |
ENSMUSG00000015023 |
| Gene Name |
DEAD box helicase 19a |
| Synonyms |
Eif4a-rs1, DBP5, DEAD (Asp-Glu-Ala-Asp) box polypeptide 19a, Ddx19 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL01676
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111701628-111724432 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 111707621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040416]
|
| AlphaFold |
Q61655 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000040416
|
| SMART Domains |
Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
53 |
N/A |
INTRINSIC |
|
DEXDc
|
110 |
309 |
8.58e-44 |
SMART |
|
HELICc
|
346 |
433 |
2.59e-29 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130133
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173183
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
A |
T |
7: 119,307,866 (GRCm39) |
R334S |
probably benign |
Het |
| Adamts3 |
A |
T |
5: 89,825,613 (GRCm39) |
F1075L |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,029,402 (GRCm39) |
V30A |
possibly damaging |
Het |
| Bpifb5 |
A |
G |
2: 154,070,969 (GRCm39) |
N223D |
possibly damaging |
Het |
| Cacna1e |
T |
C |
1: 154,274,222 (GRCm39) |
R2228G |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,288,196 (GRCm39) |
E1894G |
probably damaging |
Het |
| Calr4 |
A |
G |
4: 109,101,447 (GRCm39) |
K110E |
probably damaging |
Het |
| Catsperz |
G |
T |
19: 6,902,421 (GRCm39) |
Y24* |
probably null |
Het |
| Clec9a |
T |
G |
6: 129,398,118 (GRCm39) |
S219A |
probably benign |
Het |
| Csrnp3 |
T |
A |
2: 65,779,336 (GRCm39) |
I16N |
probably damaging |
Het |
| Diaph1 |
G |
A |
18: 37,989,241 (GRCm39) |
Q905* |
probably null |
Het |
| Dnah10 |
T |
C |
5: 124,880,392 (GRCm39) |
M2743T |
possibly damaging |
Het |
| Ears2 |
A |
T |
7: 121,643,781 (GRCm39) |
D392E |
probably benign |
Het |
| Fsip1 |
T |
C |
2: 118,070,865 (GRCm39) |
|
probably benign |
Het |
| Ighv1-74 |
T |
C |
12: 115,766,323 (GRCm39) |
Y98C |
possibly damaging |
Het |
| Igsf10 |
T |
C |
3: 59,233,432 (GRCm39) |
K1767R |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,236,756 (GRCm39) |
A1142T |
probably benign |
Het |
| Lpar6 |
A |
G |
14: 73,477,010 (GRCm39) |
N324D |
probably benign |
Het |
| Lrit1 |
T |
A |
14: 36,779,394 (GRCm39) |
L109Q |
probably damaging |
Het |
| Nlrp4f |
A |
T |
13: 65,342,933 (GRCm39) |
D237E |
possibly damaging |
Het |
| Oas1h |
G |
T |
5: 121,009,897 (GRCm39) |
G324V |
probably damaging |
Het |
| Pak1 |
T |
G |
7: 97,532,738 (GRCm39) |
D179E |
probably benign |
Het |
| Prop1 |
T |
A |
11: 50,842,956 (GRCm39) |
Q77L |
probably damaging |
Het |
| Scn10a |
A |
T |
9: 119,501,231 (GRCm39) |
Y184* |
probably null |
Het |
| Sdk1 |
T |
C |
5: 142,113,591 (GRCm39) |
F1546S |
probably damaging |
Het |
| Trim67 |
A |
T |
8: 125,541,899 (GRCm39) |
I366F |
possibly damaging |
Het |
| Vmn2r94 |
T |
G |
17: 18,477,272 (GRCm39) |
M380L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,674,133 (GRCm39) |
N397S |
probably damaging |
Het |
| Zfand3 |
T |
G |
17: 30,354,337 (GRCm39) |
S51R |
possibly damaging |
Het |
| Zfp36l3 |
T |
C |
X: 52,777,624 (GRCm39) |
S197G |
probably benign |
Het |
|
| Other mutations in Ddx19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ddx19a
|
APN |
8 |
111,703,102 (GRCm39) |
missense |
probably benign |
|
|
IGL01395:Ddx19a
|
APN |
8 |
111,717,164 (GRCm39) |
splice site |
probably benign |
|
|
IGL02243:Ddx19a
|
APN |
8 |
111,703,088 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02677:Ddx19a
|
APN |
8 |
111,716,241 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02870:Ddx19a
|
APN |
8 |
111,710,258 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0416:Ddx19a
|
UTSW |
8 |
111,705,689 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1574:Ddx19a
|
UTSW |
8 |
111,719,743 (GRCm39) |
splice site |
probably benign |
|
|
R1664:Ddx19a
|
UTSW |
8 |
111,716,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4470:Ddx19a
|
UTSW |
8 |
111,703,111 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4552:Ddx19a
|
UTSW |
8 |
111,705,198 (GRCm39) |
nonsense |
probably null |
|
|
R4668:Ddx19a
|
UTSW |
8 |
111,705,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4847:Ddx19a
|
UTSW |
8 |
111,703,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5390:Ddx19a
|
UTSW |
8 |
111,707,263 (GRCm39) |
nonsense |
probably null |
|
|
R5815:Ddx19a
|
UTSW |
8 |
111,705,781 (GRCm39) |
nonsense |
probably null |
|
|
R6842:Ddx19a
|
UTSW |
8 |
111,705,257 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R7045:Ddx19a
|
UTSW |
8 |
111,719,706 (GRCm39) |
missense |
probably benign |
|
|
R7647:Ddx19a
|
UTSW |
8 |
111,703,259 (GRCm39) |
splice site |
probably null |
|
|
R8186:Ddx19a
|
UTSW |
8 |
111,710,274 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8716:Ddx19a
|
UTSW |
8 |
111,710,243 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8986:Ddx19a
|
UTSW |
8 |
111,705,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9051:Ddx19a
|
UTSW |
8 |
111,710,228 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9721:Ddx19a
|
UTSW |
8 |
111,705,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-01-21 |
Incidental Mutation