Incidental Mutation 'R3762:Dhx15'
| ID |
270551 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx15
|
| Ensembl Gene |
ENSMUSG00000029169 |
| Gene Name |
DEAH-box helicase 15 |
| Synonyms |
mDEAH9, HRH2, DBP1, Ddx15, DEAH (Asp-Glu-Ala-His) box polypeptide 15 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R3762 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 52324074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 406
(P406L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031061]
[ENSMUST00000195922]
[ENSMUST00000199321]
[ENSMUST00000200186]
|
| AlphaFold |
O35286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031061
AA Change: P406L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: P406L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
|
DEXDc
|
135 |
322 |
4.11e-32 |
SMART |
|
AAA
|
152 |
326 |
1.07e-2 |
SMART |
|
HELICc
|
363 |
477 |
1.06e-16 |
SMART |
|
HA2
|
538 |
628 |
2.76e-31 |
SMART |
|
Pfam:OB_NTP_bind
|
662 |
765 |
3.1e-29 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195922
|
| SMART Domains |
Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1jpna2
|
20 |
149 |
7e-17 |
SMART |
|
Blast:AAA
|
24 |
186 |
4e-68 |
BLAST |
|
PDB:3KX2|A
|
25 |
186 |
4e-65 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199321
AA Change: P406L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: P406L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
|
DEXDc
|
135 |
322 |
4.11e-32 |
SMART |
|
AAA
|
152 |
326 |
1.07e-2 |
SMART |
|
HELICc
|
363 |
477 |
1.06e-16 |
SMART |
|
HA2
|
538 |
628 |
2.76e-31 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200186
AA Change: P406L
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: P406L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
110 |
N/A |
INTRINSIC |
|
DEXDc
|
135 |
322 |
1.7e-34 |
SMART |
|
AAA
|
152 |
326 |
1.7e-4 |
SMART |
|
HELICc
|
363 |
477 |
4.3e-19 |
SMART |
|
HA2
|
538 |
608 |
4.6e-20 |
SMART |
|
| Meta Mutation Damage Score |
0.2702 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(24) : Gene trapped(24) |
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap35 |
A |
T |
7: 16,299,000 (GRCm39) |
S22T |
probably damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,845,351 (GRCm39) |
I718T |
probably damaging |
Het |
| Cad |
T |
A |
5: 31,232,890 (GRCm39) |
|
probably null |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Defa41 |
C |
T |
8: 21,691,753 (GRCm39) |
S45F |
probably damaging |
Het |
| Dnah17 |
T |
A |
11: 117,995,352 (GRCm39) |
M999L |
probably benign |
Het |
| Dpysl4 |
A |
G |
7: 138,676,672 (GRCm39) |
E374G |
probably damaging |
Het |
| Gatad2a |
T |
C |
8: 70,368,930 (GRCm39) |
|
probably null |
Het |
| Gm826 |
C |
A |
2: 160,155,423 (GRCm39) |
|
probably benign |
Het |
| H2-M10.1 |
T |
A |
17: 36,636,216 (GRCm39) |
H117L |
probably damaging |
Het |
| Klhl9 |
A |
T |
4: 88,639,830 (GRCm39) |
V137D |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,186,183 (GRCm39) |
Y828C |
probably damaging |
Het |
| Med1 |
T |
C |
11: 98,046,341 (GRCm39) |
|
probably benign |
Het |
| Muc5ac |
A |
T |
7: 141,361,212 (GRCm39) |
T1507S |
possibly damaging |
Het |
| Pak6 |
A |
T |
2: 118,526,958 (GRCm39) |
Q651L |
probably damaging |
Het |
| Plscr2 |
T |
A |
9: 92,173,133 (GRCm39) |
V90D |
probably damaging |
Het |
| Rbbp4 |
G |
A |
4: 129,228,344 (GRCm39) |
T2I |
probably damaging |
Het |
| Rnf121 |
G |
A |
7: 101,673,244 (GRCm39) |
T223M |
probably damaging |
Het |
| Rsph6a |
A |
G |
7: 18,789,256 (GRCm39) |
K196R |
probably damaging |
Het |
| Tex47 |
A |
T |
5: 7,355,529 (GRCm39) |
I237L |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn1r30 |
C |
A |
6: 58,412,278 (GRCm39) |
V185L |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,032,411 (GRCm39) |
E728D |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,033 (GRCm39) |
Y320N |
probably benign |
Het |
| Zc3h14 |
T |
A |
12: 98,724,902 (GRCm39) |
F188Y |
probably damaging |
Het |
|
| Other mutations in Dhx15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00089:Dhx15
|
APN |
5 |
52,324,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00392:Dhx15
|
APN |
5 |
52,314,924 (GRCm39) |
splice site |
probably benign |
|
|
IGL00484:Dhx15
|
APN |
5 |
52,324,154 (GRCm39) |
missense |
probably benign |
|
|
IGL00691:Dhx15
|
APN |
5 |
52,327,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01014:Dhx15
|
APN |
5 |
52,309,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02808:Dhx15
|
APN |
5 |
52,319,041 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03408:Dhx15
|
APN |
5 |
52,317,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
3-1:Dhx15
|
UTSW |
5 |
52,324,039 (GRCm39) |
splice site |
probably benign |
|
|
PIT4449001:Dhx15
|
UTSW |
5 |
52,318,300 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0021:Dhx15
|
UTSW |
5 |
52,314,830 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Dhx15
|
UTSW |
5 |
52,311,414 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0281:Dhx15
|
UTSW |
5 |
52,308,088 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0566:Dhx15
|
UTSW |
5 |
52,328,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1827:Dhx15
|
UTSW |
5 |
52,327,422 (GRCm39) |
nonsense |
probably null |
|
|
R1864:Dhx15
|
UTSW |
5 |
52,342,043 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2106:Dhx15
|
UTSW |
5 |
52,327,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2931:Dhx15
|
UTSW |
5 |
52,324,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2932:Dhx15
|
UTSW |
5 |
52,324,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3764:Dhx15
|
UTSW |
5 |
52,324,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3948:Dhx15
|
UTSW |
5 |
52,318,922 (GRCm39) |
splice site |
probably benign |
|
|
R4452:Dhx15
|
UTSW |
5 |
52,324,074 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Dhx15
|
UTSW |
5 |
52,327,409 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7031:Dhx15
|
UTSW |
5 |
52,341,931 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7431:Dhx15
|
UTSW |
5 |
52,319,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8677:Dhx15
|
UTSW |
5 |
52,341,886 (GRCm39) |
missense |
probably benign |
|
|
R8726:Dhx15
|
UTSW |
5 |
52,311,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9163:Dhx15
|
UTSW |
5 |
52,342,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9319:Dhx15
|
UTSW |
5 |
52,342,193 (GRCm39) |
nonsense |
probably null |
|
|
X0017:Dhx15
|
UTSW |
5 |
52,314,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGCAGGTTCCATTCATAACC -3'
(R):5'- AGACGTGTTGAATGGAATGCATATG -3'
Sequencing Primer
(F):5'- GGTTCCATTCATAACCGAGGCTAG -3'
(R):5'- GGAATGCATATGAAGATGAGTTTTG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation