Incidental Mutation 'R0566:Dhx15'
| ID |
46177 |
| 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 |
038757-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R0566 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 52328767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Threonine
at position 287
(K287T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143069
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031061]
[ENSMUST00000195922]
[ENSMUST00000199321]
[ENSMUST00000200186]
|
| AlphaFold |
O35286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031061
AA Change: K287T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: K287T
| 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 damaging
Transcript: ENSMUST00000195922
AA Change: K77T
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169
AA Change: K77T
| 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 |
noncoding transcript
Transcript: ENSMUST00000197257
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000199321
AA Change: K287T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: K287T
| 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 |
possibly damaging
Transcript: ENSMUST00000200186
AA Change: K287T
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: K287T
| 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 |
0.8272 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (24/25) |
| 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 |
|---|
| Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
| Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
| Ccdc112 |
A |
C |
18: 46,423,877 (GRCm39) |
V287G |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
| Prima1 |
C |
A |
12: 103,163,573 (GRCm39) |
A133S |
probably benign |
Het |
| Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
| Tmem208 |
T |
C |
8: 106,061,475 (GRCm39) |
V167A |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,825,102 (GRCm39) |
S357P |
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 |
|
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 |
|
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'- TCTGGCTTCTGAAAGCACCCAC -3'
(R):5'- TGACTGACGGGATGCTACTTCGTG -3'
Sequencing Primer
(F):5'- tggtgagatggctcagagg -3'
(R):5'- TCGTGAAGCCATGAACGATCC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation