Incidental Mutation 'R2932:Dhx15'
ID |
254967 |
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 # |
R2932 (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: 97.2%
- 20x: 94.7%
|
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: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
Nipal1 |
A |
G |
5: 72,824,978 (GRCm39) |
I224V |
possibly damaging |
Het |
Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
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 |
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 |
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'- TGTTTAGGCAGGTTCCATTCATAAC -3'
(R):5'- CGTGTTGAATGGAATGCATATGAAG -3'
Sequencing Primer
(F):5'- GGTTCCATTCATAACCGAGGCTAG -3'
(R):5'- GGAATGCATATGAAGATGAGTTTTG -3'
|
Posted On |
2014-12-29 |