Incidental Mutation 'R5531:Dhx40'
| ID |
433709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx40
|
| Ensembl Gene |
ENSMUSG00000018425 |
| Gene Name |
DEAH-box helicase 40 |
| Synonyms |
2410016C14Rik, ARG147, DDX40 |
| MMRRC Submission |
043089-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86659672-86698572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86680330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 381
(E381G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
[ENSMUST00000148263]
|
| AlphaFold |
Q6PE54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018569
AA Change: E381G
PolyPhen 2
Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: E381G
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
47 |
240 |
6.32e-33 |
SMART |
|
HELICc
|
283 |
401 |
3.08e-13 |
SMART |
|
HA2
|
462 |
557 |
1.92e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
588 |
699 |
1.7e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136977
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148263
AA Change: E144G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425
AA Change: E144G
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
1 |
96 |
3e-60 |
BLAST |
|
SCOP:d1a1va1
|
4 |
59 |
5e-7 |
SMART |
|
HA2
|
164 |
259 |
1.92e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.1765 |
| Coding Region Coverage |
- 1x: 98.6%
- 3x: 97.5%
- 10x: 95.6%
- 20x: 92.2%
|
| Validation Efficiency |
97% (64/66) |
| 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 DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
T |
C |
5: 114,342,767 (GRCm39) |
F878L |
possibly damaging |
Het |
| Acr |
T |
A |
15: 89,458,146 (GRCm39) |
Y276N |
probably damaging |
Het |
| AI987944 |
A |
T |
7: 41,023,814 (GRCm39) |
Y388* |
probably null |
Het |
| Ankrd29 |
G |
A |
18: 12,412,835 (GRCm39) |
T114I |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,536 (GRCm39) |
M168T |
probably benign |
Het |
| Bard1 |
A |
C |
1: 71,085,880 (GRCm39) |
C608W |
probably damaging |
Het |
| Brd10 |
A |
G |
19: 29,731,072 (GRCm39) |
S647P |
possibly damaging |
Het |
| Clspn |
A |
G |
4: 126,471,566 (GRCm39) |
R907G |
probably benign |
Het |
| Cubn |
C |
T |
2: 13,355,743 (GRCm39) |
V1830I |
probably benign |
Het |
| Cwc22 |
T |
C |
2: 77,754,913 (GRCm39) |
N221S |
probably damaging |
Het |
| Dact3 |
A |
G |
7: 16,609,540 (GRCm39) |
E64G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,458,907 (GRCm39) |
S3744P |
possibly damaging |
Het |
| Epha4 |
A |
G |
1: 77,351,513 (GRCm39) |
V914A |
probably benign |
Het |
| Fbxw10 |
G |
A |
11: 62,753,482 (GRCm39) |
C492Y |
probably damaging |
Het |
| G930045G22Rik |
C |
A |
6: 50,824,756 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21103 |
A |
T |
14: 17,484,855 (GRCm39) |
I63K |
probably damaging |
Het |
| Gpr156 |
T |
C |
16: 37,825,619 (GRCm39) |
V612A |
probably benign |
Het |
| Gucy2g |
A |
G |
19: 55,229,572 (GRCm39) |
S33P |
probably benign |
Het |
| Hibch |
A |
G |
1: 52,884,228 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,619,539 (GRCm39) |
C1192S |
probably damaging |
Het |
| Hsd11b1 |
CGG |
CG |
1: 192,922,557 (GRCm39) |
|
probably null |
Het |
| Ifi214 |
A |
G |
1: 173,352,686 (GRCm39) |
Y248H |
probably damaging |
Het |
| Igf2bp2 |
T |
G |
16: 21,907,835 (GRCm39) |
I89L |
probably damaging |
Het |
| Il2ra |
A |
T |
2: 11,681,703 (GRCm39) |
T103S |
possibly damaging |
Het |
| Ino80 |
T |
A |
2: 119,276,056 (GRCm39) |
M407L |
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,567,946 (GRCm39) |
K671N |
probably benign |
Het |
| Lca5 |
C |
T |
9: 83,280,648 (GRCm39) |
S384N |
probably benign |
Het |
| Lce1l |
G |
T |
3: 92,757,804 (GRCm39) |
P18H |
unknown |
Het |
| Lrrc8d |
T |
C |
5: 105,945,536 (GRCm39) |
|
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,195,489 (GRCm39) |
N223S |
probably damaging |
Het |
| Mcm3 |
A |
T |
1: 20,873,768 (GRCm39) |
F784Y |
possibly damaging |
Het |
| Ncf4 |
T |
G |
15: 78,144,988 (GRCm39) |
|
probably benign |
Het |
| Ncoa1 |
T |
A |
12: 4,303,746 (GRCm39) |
M1362L |
probably benign |
Het |
| Or1e16 |
T |
C |
11: 73,286,003 (GRCm39) |
T282A |
probably benign |
Het |
| Or5p5 |
A |
G |
7: 107,414,451 (GRCm39) |
Y220C |
probably benign |
Het |
| Or6c8b |
G |
C |
10: 128,882,433 (GRCm39) |
F166L |
probably damaging |
Het |
| Prkg2 |
T |
C |
5: 99,115,593 (GRCm39) |
R543G |
probably damaging |
Het |
| Ptprd |
A |
C |
4: 75,977,904 (GRCm39) |
|
probably null |
Het |
| Scap |
A |
G |
9: 110,210,497 (GRCm39) |
S969G |
possibly damaging |
Het |
| Sgk2 |
T |
C |
2: 162,836,624 (GRCm39) |
F60S |
probably benign |
Het |
| Sgpp1 |
G |
T |
12: 75,781,981 (GRCm39) |
Y119* |
probably null |
Het |
| Siglech |
A |
T |
7: 55,418,413 (GRCm39) |
K31* |
probably null |
Het |
| Slc40a1 |
A |
G |
1: 45,951,498 (GRCm39) |
Y220H |
probably damaging |
Het |
| Smurf2 |
G |
A |
11: 106,743,389 (GRCm39) |
T219M |
possibly damaging |
Het |
| Speer4f2 |
A |
G |
5: 17,581,526 (GRCm39) |
K156R |
possibly damaging |
Het |
| Spp1 |
T |
G |
5: 104,588,424 (GRCm39) |
D276E |
probably benign |
Het |
| Stk32b |
T |
C |
5: 37,617,078 (GRCm39) |
|
probably null |
Het |
| Stxbp5 |
G |
A |
10: 9,638,668 (GRCm39) |
Q1044* |
probably null |
Het |
| Sv2c |
T |
A |
13: 96,097,886 (GRCm39) |
T696S |
probably damaging |
Het |
| Tubgcp2 |
A |
C |
7: 139,584,937 (GRCm39) |
|
probably null |
Het |
| Ubap1l |
C |
T |
9: 65,278,973 (GRCm39) |
P91S |
probably damaging |
Het |
| Vmn2r76 |
A |
T |
7: 85,874,657 (GRCm39) |
D773E |
probably damaging |
Het |
| Xirp2 |
C |
G |
2: 67,345,646 (GRCm39) |
S2629C |
probably benign |
Het |
| Zbtb20 |
C |
A |
16: 43,431,230 (GRCm39) |
C580* |
probably null |
Het |
| Zfp957 |
T |
A |
14: 79,450,622 (GRCm39) |
Q392H |
unknown |
Het |
| Zfyve19 |
C |
T |
2: 119,042,427 (GRCm39) |
T178M |
probably damaging |
Het |
| Zswim6 |
T |
C |
13: 107,906,128 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Dhx40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02366:Dhx40
|
APN |
11 |
86,667,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02818:Dhx40
|
APN |
11 |
86,690,331 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02932:Dhx40
|
APN |
11 |
86,662,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0312:Dhx40
|
UTSW |
11 |
86,662,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0485:Dhx40
|
UTSW |
11 |
86,662,088 (GRCm39) |
unclassified |
probably benign |
|
|
R0542:Dhx40
|
UTSW |
11 |
86,695,082 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0565:Dhx40
|
UTSW |
11 |
86,661,993 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1218:Dhx40
|
UTSW |
11 |
86,690,310 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1406:Dhx40
|
UTSW |
11 |
86,688,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1406:Dhx40
|
UTSW |
11 |
86,688,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1544:Dhx40
|
UTSW |
11 |
86,697,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1550:Dhx40
|
UTSW |
11 |
86,667,565 (GRCm39) |
splice site |
probably null |
|
|
R1839:Dhx40
|
UTSW |
11 |
86,680,123 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2923:Dhx40
|
UTSW |
11 |
86,680,089 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3743:Dhx40
|
UTSW |
11 |
86,661,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3864:Dhx40
|
UTSW |
11 |
86,680,071 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4902:Dhx40
|
UTSW |
11 |
86,662,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4918:Dhx40
|
UTSW |
11 |
86,695,217 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5119:Dhx40
|
UTSW |
11 |
86,667,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5416:Dhx40
|
UTSW |
11 |
86,688,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5677:Dhx40
|
UTSW |
11 |
86,691,789 (GRCm39) |
splice site |
probably null |
|
|
R6270:Dhx40
|
UTSW |
11 |
86,690,431 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6431:Dhx40
|
UTSW |
11 |
86,664,649 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6456:Dhx40
|
UTSW |
11 |
86,675,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6594:Dhx40
|
UTSW |
11 |
86,676,599 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6599:Dhx40
|
UTSW |
11 |
86,695,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7069:Dhx40
|
UTSW |
11 |
86,688,569 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7268:Dhx40
|
UTSW |
11 |
86,697,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7470:Dhx40
|
UTSW |
11 |
86,667,528 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7632:Dhx40
|
UTSW |
11 |
86,690,263 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7728:Dhx40
|
UTSW |
11 |
86,662,759 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7788:Dhx40
|
UTSW |
11 |
86,666,502 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7869:Dhx40
|
UTSW |
11 |
86,688,532 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7889:Dhx40
|
UTSW |
11 |
86,689,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8046:Dhx40
|
UTSW |
11 |
86,675,766 (GRCm39) |
nonsense |
probably null |
|
|
R8380:Dhx40
|
UTSW |
11 |
86,697,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8691:Dhx40
|
UTSW |
11 |
86,690,419 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8992:Dhx40
|
UTSW |
11 |
86,667,582 (GRCm39) |
intron |
probably benign |
|
|
R9153:Dhx40
|
UTSW |
11 |
86,690,365 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9157:Dhx40
|
UTSW |
11 |
86,662,050 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9277:Dhx40
|
UTSW |
11 |
86,661,056 (GRCm39) |
missense |
probably benign |
0.33 |
|
X0021:Dhx40
|
UTSW |
11 |
86,664,640 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0066:Dhx40
|
UTSW |
11 |
86,697,328 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACTGCGTTGTAATGCTTC -3'
(R):5'- TCGGCTGTGTATGAGGAATC -3'
Sequencing Primer
(F):5'- TGCTTCACTTCTACAAAAGACAG -3'
(R):5'- CTTAGTGGCTAAGAGCACTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation