Incidental Mutation 'PIT4449001:Dhx15'
| ID |
555728 |
| 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: 0.962)
|
| Stock # |
PIT4449001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52318300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 510
(V510A)
|
| 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: V510A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: V510A
| 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: ENSMUST00000199321
AA Change: V510A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: V510A
| 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 damaging
Transcript: ENSMUST00000200186
AA Change: V510A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: V510A
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| 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 |
|---|
| Asf1b |
A |
G |
8: 84,694,611 (GRCm39) |
N125S |
probably benign |
Het |
| BC048671 |
T |
A |
6: 90,282,145 (GRCm39) |
L101I |
probably damaging |
Het |
| Camta1 |
A |
G |
4: 151,216,043 (GRCm39) |
L959P |
probably benign |
Het |
| Cfap91 |
T |
C |
16: 38,148,720 (GRCm39) |
E236G |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,040,303 (GRCm39) |
V598F |
probably damaging |
Het |
| Cyp2j7 |
G |
T |
4: 96,103,575 (GRCm39) |
T320K |
probably damaging |
Het |
| Ddr1 |
A |
G |
17: 35,998,141 (GRCm39) |
I468T |
possibly damaging |
Het |
| Dpp4 |
T |
A |
2: 62,186,988 (GRCm39) |
K507N |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,124,225 (GRCm39) |
T198M |
possibly damaging |
Het |
| Gabbr1 |
G |
A |
17: 37,367,242 (GRCm39) |
V373I |
probably damaging |
Het |
| Gak |
A |
T |
5: 108,728,791 (GRCm39) |
S1049T |
probably benign |
Het |
| Gipr |
C |
T |
7: 18,894,543 (GRCm39) |
R253H |
probably benign |
Het |
| Gm3685 |
T |
A |
14: 7,043,960 (GRCm38) |
M73L |
probably benign |
Het |
| Gm5168 |
C |
T |
X: 25,994,840 (GRCm39) |
R129Q |
probably null |
Het |
| Kcnh1 |
T |
A |
1: 192,100,992 (GRCm39) |
V555D |
probably damaging |
Het |
| Kif26b |
T |
C |
1: 178,745,651 (GRCm39) |
S1916P |
probably damaging |
Het |
| Lingo4 |
T |
C |
3: 94,309,239 (GRCm39) |
V59A |
probably benign |
Het |
| Mroh8 |
T |
A |
2: 157,067,454 (GRCm39) |
Q635L |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,616 (GRCm39) |
D790E |
probably damaging |
Het |
| Nrxn1 |
A |
T |
17: 90,905,007 (GRCm39) |
W809R |
probably damaging |
Het |
| Or5ac19 |
C |
A |
16: 59,089,493 (GRCm39) |
C179F |
probably damaging |
Het |
| Polr3d |
T |
C |
14: 70,676,903 (GRCm39) |
H397R |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,014,304 (GRCm39) |
T432I |
probably benign |
Het |
| Rad21 |
G |
C |
15: 51,836,639 (GRCm39) |
F177L |
probably benign |
Het |
| Rnf182 |
G |
A |
13: 43,822,153 (GRCm39) |
V235I |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,599,014 (GRCm39) |
C1172Y |
probably damaging |
Het |
| Sh2b3 |
A |
G |
5: 121,966,742 (GRCm39) |
L124P |
possibly damaging |
Het |
| Six2 |
T |
C |
17: 85,992,906 (GRCm39) |
N199S |
probably benign |
Het |
| Slc5a3 |
A |
G |
16: 91,874,702 (GRCm39) |
D253G |
probably benign |
Het |
| Synm |
A |
G |
7: 67,385,025 (GRCm39) |
M879T |
probably benign |
Het |
| Tasp1 |
A |
G |
2: 139,752,455 (GRCm39) |
I328T |
possibly damaging |
Het |
| Tbrg4 |
T |
C |
11: 6,569,689 (GRCm39) |
Q309R |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,139,465 (GRCm39) |
L687P |
probably damaging |
Het |
| Trgc3 |
A |
T |
13: 19,447,532 (GRCm39) |
R162* |
probably null |
Het |
| Tufm |
T |
C |
7: 126,086,621 (GRCm39) |
M1T |
probably null |
Het |
| Vmn2r116 |
A |
C |
17: 23,607,921 (GRCm39) |
L496F |
probably benign |
Het |
| Vmn2r75 |
C |
T |
7: 85,814,791 (GRCm39) |
C234Y |
probably damaging |
Het |
| Wars2 |
G |
T |
3: 99,112,595 (GRCm39) |
V162L |
possibly damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,552,349 (GRCm39) |
V586D |
probably benign |
Het |
| Zdhhc5 |
A |
T |
2: 84,520,571 (GRCm39) |
N535K |
probably damaging |
Het |
| Zfp52 |
T |
C |
17: 21,777,478 (GRCm39) |
Y38H |
probably damaging |
Het |
| Zfp729b |
T |
C |
13: 67,739,542 (GRCm39) |
M908V |
probably benign |
Het |
| Zfp772 |
T |
C |
7: 7,207,350 (GRCm39) |
I114V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTTTAGTGCAGAGTGGAAGC -3'
(R):5'- AAGTGCCTTAACTTTGCCCC -3'
Sequencing Primer
(F):5'- AGCAAAAGGTAAGTGTACTTAATGC -3'
(R):5'- TAACATGCGCGTTTCCT -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation