Incidental Mutation 'R3413:Ddx42'
| ID |
267818 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ddx42
|
| Ensembl Gene |
ENSMUSG00000020705 |
| Gene Name |
DEAD box helicase 42 |
| Synonyms |
DEAD (Asp-Glu-Ala-Asp) box polypeptide 42, B430002H05Rik, 1810047H21Rik, SF3b125 |
| MMRRC Submission |
040631-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3413 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
106107752-106139965 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 106138636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 812
(T812A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021046
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021046]
[ENSMUST00000021048]
|
| AlphaFold |
Q810A7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021046
AA Change: T812A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000021046
Gene: ENSMUSG00000020705
AA Change: T812A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
52 |
N/A |
INTRINSIC |
|
low complexity region
|
68 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
114 |
N/A |
INTRINSIC |
|
coiled coil region
|
116 |
143 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
158 |
N/A |
INTRINSIC |
|
DEXDc
|
272 |
474 |
7.61e-68 |
SMART |
|
HELICc
|
512 |
593 |
1.58e-33 |
SMART |
|
low complexity region
|
644 |
659 |
N/A |
INTRINSIC |
|
low complexity region
|
722 |
737 |
N/A |
INTRINSIC |
|
low complexity region
|
814 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021048
|
| SMART Domains |
Protein: ENSMUSP00000021048
Gene: ENSMUSG00000020706
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FtsJ
|
24 |
200 |
2.8e-56 |
PFAM |
|
low complexity region
|
203 |
218 |
N/A |
INTRINSIC |
|
Pfam:DUF3381
|
231 |
398 |
1.3e-48 |
PFAM |
|
low complexity region
|
456 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
568 |
N/A |
INTRINSIC |
|
Pfam:Spb1_C
|
597 |
831 |
1.8e-72 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126938
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154635
|
| Meta Mutation Damage Score |
0.0600 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (48/49) |
| 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 Asp-Glu-Ala-Asp (DEAD) box protein family. Members of this protein family are putative RNA helicases, and 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. Members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
C |
8: 10,037,387 (GRCm39) |
|
probably benign |
Het |
| Ap2a2 |
T |
A |
7: 141,178,689 (GRCm39) |
N105K |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,012 (GRCm39) |
H535R |
probably damaging |
Het |
| Ccnb3 |
T |
A |
X: 6,874,040 (GRCm39) |
E846D |
probably benign |
Het |
| Cdca7 |
G |
A |
2: 72,315,631 (GRCm39) |
G365R |
probably damaging |
Het |
| Clvs2 |
T |
A |
10: 33,498,967 (GRCm39) |
|
probably benign |
Het |
| Coq10a |
A |
G |
10: 128,200,998 (GRCm39) |
V93A |
possibly damaging |
Het |
| Dnaaf6 |
T |
A |
X: 139,006,770 (GRCm39) |
N216K |
possibly damaging |
Het |
| Eya1 |
T |
A |
1: 14,344,433 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
| Gckr |
T |
A |
5: 31,458,211 (GRCm39) |
|
probably null |
Het |
| Golgb1 |
A |
G |
16: 36,707,709 (GRCm39) |
K68E |
probably damaging |
Het |
| Got1l1 |
A |
G |
8: 27,689,864 (GRCm39) |
|
probably null |
Het |
| Hip1 |
T |
C |
5: 135,451,026 (GRCm39) |
E451G |
probably damaging |
Het |
| Hs6st2 |
C |
T |
X: 50,770,332 (GRCm39) |
V50I |
possibly damaging |
Het |
| Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
| Map1s |
A |
G |
8: 71,365,163 (GRCm39) |
N107D |
probably damaging |
Het |
| Mmel1 |
T |
A |
4: 154,974,043 (GRCm39) |
V361D |
probably damaging |
Het |
| Myh15 |
A |
G |
16: 48,959,095 (GRCm39) |
D989G |
probably benign |
Het |
| Myo1g |
G |
T |
11: 6,467,870 (GRCm39) |
H188Q |
possibly damaging |
Het |
| Nup210 |
G |
T |
6: 91,002,224 (GRCm39) |
Q755K |
probably benign |
Het |
| Or14j3 |
A |
G |
17: 37,900,587 (GRCm39) |
V219A |
probably benign |
Het |
| Or51q1c |
A |
G |
7: 103,653,039 (GRCm39) |
M186V |
probably damaging |
Het |
| Plcz1 |
C |
T |
6: 139,947,807 (GRCm39) |
R525Q |
probably damaging |
Het |
| Ppef2 |
T |
G |
5: 92,376,581 (GRCm39) |
S649R |
probably damaging |
Het |
| Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
| Sez6l |
A |
G |
5: 112,623,227 (GRCm39) |
L108P |
possibly damaging |
Het |
| Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
| Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,457,631 (GRCm39) |
R3178C |
probably damaging |
Het |
| St6galnac1 |
A |
G |
11: 116,656,682 (GRCm39) |
W486R |
probably damaging |
Het |
| Syk |
A |
G |
13: 52,785,775 (GRCm39) |
D327G |
probably benign |
Het |
| Tbc1d8b |
C |
T |
X: 138,614,140 (GRCm39) |
A391V |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,743,387 (GRCm39) |
E173G |
probably benign |
Het |
| Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
| Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
| Ubn2 |
A |
G |
6: 38,475,674 (GRCm39) |
T1211A |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,678,464 (GRCm39) |
V2082I |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp92 |
C |
T |
X: 72,463,900 (GRCm39) |
|
probably benign |
Het |
| Zfyve28 |
C |
T |
5: 34,357,028 (GRCm39) |
M723I |
probably benign |
Het |
| Zmynd8 |
A |
T |
2: 165,657,371 (GRCm39) |
M533K |
probably damaging |
Het |
|
| Other mutations in Ddx42 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00719:Ddx42
|
APN |
11 |
106,126,575 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00833:Ddx42
|
APN |
11 |
106,122,004 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
IGL01095:Ddx42
|
APN |
11 |
106,138,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01651:Ddx42
|
APN |
11 |
106,138,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01715:Ddx42
|
APN |
11 |
106,115,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02097:Ddx42
|
APN |
11 |
106,129,986 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03182:Ddx42
|
APN |
11 |
106,138,353 (GRCm39) |
missense |
probably benign |
|
|
P0045:Ddx42
|
UTSW |
11 |
106,122,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Ddx42
|
UTSW |
11 |
106,138,675 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0646:Ddx42
|
UTSW |
11 |
106,123,659 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2277:Ddx42
|
UTSW |
11 |
106,133,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2279:Ddx42
|
UTSW |
11 |
106,133,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2297:Ddx42
|
UTSW |
11 |
106,133,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2336:Ddx42
|
UTSW |
11 |
106,121,976 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R2519:Ddx42
|
UTSW |
11 |
106,136,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3498:Ddx42
|
UTSW |
11 |
106,122,019 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R3883:Ddx42
|
UTSW |
11 |
106,138,518 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4421:Ddx42
|
UTSW |
11 |
106,121,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4696:Ddx42
|
UTSW |
11 |
106,138,529 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4953:Ddx42
|
UTSW |
11 |
106,133,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5398:Ddx42
|
UTSW |
11 |
106,115,724 (GRCm39) |
missense |
probably benign |
|
|
R5669:Ddx42
|
UTSW |
11 |
106,132,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6091:Ddx42
|
UTSW |
11 |
106,125,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Ddx42
|
UTSW |
11 |
106,130,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Ddx42
|
UTSW |
11 |
106,119,646 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6991:Ddx42
|
UTSW |
11 |
106,129,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Ddx42
|
UTSW |
11 |
106,138,508 (GRCm39) |
missense |
probably benign |
|
|
R7502:Ddx42
|
UTSW |
11 |
106,138,565 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7792:Ddx42
|
UTSW |
11 |
106,127,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Ddx42
|
UTSW |
11 |
106,130,887 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8425:Ddx42
|
UTSW |
11 |
106,138,550 (GRCm39) |
missense |
probably benign |
|
|
R9265:Ddx42
|
UTSW |
11 |
106,132,435 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9523:Ddx42
|
UTSW |
11 |
106,132,606 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9681:Ddx42
|
UTSW |
11 |
106,125,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF018:Ddx42
|
UTSW |
11 |
106,123,630 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCACAGCAGGGCCATAATAG -3'
(R):5'- TATCCACCTTGGGGTCCATC -3'
Sequencing Primer
(F):5'- GCAGGGCCATAATAGTCCTGAC -3'
(R):5'- GCCATCATTTGCACCCCGG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation