Incidental Mutation 'IGL01014:Dhx15'
| ID |
53573 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01014
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 52309266 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 719
(V719D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031061
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031061]
[ENSMUST00000199321]
[ENSMUST00000200186]
|
| AlphaFold |
O35286 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031061
AA Change: V719D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: V719D
| 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: 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgra1 |
G |
A |
7: 139,455,576 (GRCm39) |
M401I |
probably benign |
Het |
| Adgra1 |
C |
T |
7: 139,455,577 (GRCm39) |
H402Y |
probably damaging |
Het |
| Akap13 |
T |
C |
7: 75,400,381 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,018,683 (GRCm39) |
E1088G |
probably benign |
Het |
| Aox1 |
T |
C |
1: 58,361,960 (GRCm39) |
F722S |
possibly damaging |
Het |
| Arhgef39 |
G |
A |
4: 43,499,502 (GRCm39) |
R36C |
probably damaging |
Het |
| Art2a |
C |
A |
7: 101,204,115 (GRCm39) |
C141F |
probably damaging |
Het |
| Brwd1 |
A |
G |
16: 95,817,373 (GRCm39) |
F1380L |
probably benign |
Het |
| Cadps2 |
A |
T |
6: 23,496,873 (GRCm39) |
N102K |
possibly damaging |
Het |
| Ccdc30 |
C |
A |
4: 119,250,776 (GRCm39) |
R22L |
possibly damaging |
Het |
| Ccdc74a |
A |
T |
16: 17,467,661 (GRCm39) |
T200S |
possibly damaging |
Het |
| Cd200 |
G |
A |
16: 45,215,063 (GRCm39) |
T196I |
probably benign |
Het |
| Cd244a |
A |
G |
1: 171,401,856 (GRCm39) |
Y194C |
probably damaging |
Het |
| Cdh23 |
T |
C |
10: 60,143,301 (GRCm39) |
T3009A |
probably damaging |
Het |
| Clec12b |
T |
A |
6: 129,362,393 (GRCm39) |
N21Y |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,145 (GRCm39) |
E788G |
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,917,458 (GRCm39) |
|
probably benign |
Het |
| Cttnbp2 |
T |
A |
6: 18,423,894 (GRCm39) |
N810I |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,764 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
G |
9: 104,080,417 (GRCm39) |
I888T |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,055 (GRCm39) |
K666E |
probably damaging |
Het |
| Gnas |
C |
T |
2: 174,139,767 (GRCm39) |
|
probably benign |
Het |
| Lmntd2 |
T |
C |
7: 140,793,952 (GRCm39) |
Q7R |
probably damaging |
Het |
| Lmo7 |
G |
A |
14: 102,157,993 (GRCm39) |
|
probably benign |
Het |
| Lrrc55 |
A |
G |
2: 85,026,559 (GRCm39) |
I155T |
possibly damaging |
Het |
| Meis3 |
C |
T |
7: 15,912,872 (GRCm39) |
|
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,742,187 (GRCm39) |
V334M |
probably damaging |
Het |
| Myo3a |
A |
G |
2: 22,337,284 (GRCm39) |
I386V |
probably benign |
Het |
| Neb |
C |
A |
2: 52,177,170 (GRCm39) |
M1390I |
probably benign |
Het |
| Nmd3 |
G |
A |
3: 69,633,719 (GRCm39) |
V69I |
probably benign |
Het |
| Nsmce3 |
G |
T |
7: 64,522,382 (GRCm39) |
D95E |
possibly damaging |
Het |
| Or4c12 |
T |
C |
2: 89,773,604 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or4f58 |
A |
G |
2: 111,851,477 (GRCm39) |
S241P |
probably damaging |
Het |
| Or5w16 |
T |
C |
2: 87,577,469 (GRCm39) |
F310L |
probably benign |
Het |
| Pde4d |
T |
C |
13: 110,086,036 (GRCm39) |
V538A |
probably damaging |
Het |
| Pgap6 |
T |
A |
17: 26,335,983 (GRCm39) |
|
probably benign |
Het |
| Plxnb1 |
A |
T |
9: 108,935,102 (GRCm39) |
H982L |
probably benign |
Het |
| Pold2 |
G |
T |
11: 5,822,293 (GRCm39) |
Q459K |
probably benign |
Het |
| Ptpn14 |
G |
A |
1: 189,554,830 (GRCm39) |
R130Q |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,395,042 (GRCm39) |
L182Q |
probably damaging |
Het |
| Syne2 |
G |
A |
12: 75,952,051 (GRCm39) |
D440N |
probably damaging |
Het |
| Tlcd1 |
G |
A |
11: 78,070,283 (GRCm39) |
|
probably null |
Het |
| Tpte |
A |
T |
8: 22,810,898 (GRCm39) |
Y185F |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-06-28 |
Incidental Mutation