Incidental Mutation 'R3948:Dhx15'
| ID |
307781 |
| 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 |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 52318922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143381
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031061]
[ENSMUST00000199321]
[ENSMUST00000200186]
|
| AlphaFold |
O35286 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031061
|
| SMART Domains |
Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
| 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 |
noncoding transcript
Transcript: ENSMUST00000198378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199321
|
| SMART Domains |
Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
| 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 |
noncoding transcript
Transcript: ENSMUST00000199343
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200186
|
| SMART Domains |
Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Serpinb9c |
A |
C |
13: 33,334,077 (GRCm39) |
C322G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
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 |
|
R3762: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 |
|
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'- TTGGGGCAAAGTTAAGGCAC -3'
(R):5'- ACATTAATTGTGGCCTGCGAGTG -3'
Sequencing Primer
(F):5'- AATGCTGCGGCCCTTTAATAG -3'
(R):5'- GGCCTGCGAGTGTTGTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation