Incidental Mutation 'IGL00476:Ddx19a'
| ID |
12572 |
| 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 # |
IGL00476
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
111701628-111724432 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 111703102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 445
(K445R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047898
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034197]
[ENSMUST00000040416]
|
| AlphaFold |
Q61655 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034197
|
| SMART Domains |
Protein: ENSMUSP00000034197
Gene: ENSMUSG00000031749
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
Pfam:Glyco_transf_29
|
94 |
349 |
3.8e-80 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040416
AA Change: K445R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000047898
Gene: ENSMUSG00000015023
AA Change: K445R
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
| Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
| Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
| Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
| Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
| Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
| Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
| Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
| Kat2a |
G |
A |
11: 100,596,210 (GRCm39) |
R782W |
probably damaging |
Het |
| Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
| Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
| Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
| Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
| Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
| Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
| Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
| Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
| Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
| Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
| Other mutations in Ddx19a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Ddx19a
|
APN |
8 |
111,717,164 (GRCm39) |
splice site |
probably benign |
|
|
IGL01676:Ddx19a
|
APN |
8 |
111,707,621 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2012-12-06 |
Incidental Mutation