Incidental Mutation 'R7031:Dhx15'
ID |
546315 |
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 |
045132-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
R7031 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
52307545-52347856 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 52341931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 129
(D129G)
|
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: D129G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000031061 Gene: ENSMUSG00000029169 AA Change: D129G
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: D129G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000143069 Gene: ENSMUSG00000029169 AA Change: D129G
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: D129G
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000143381 Gene: ENSMUSG00000029169 AA Change: D129G
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,058 (GRCm39) |
N39S |
probably benign |
Het |
Abca13 |
C |
T |
11: 9,571,892 (GRCm39) |
R4818C |
probably damaging |
Het |
Acadsb |
A |
G |
7: 131,045,366 (GRCm39) |
I433V |
probably benign |
Het |
Acsl3 |
T |
A |
1: 78,666,000 (GRCm39) |
I142N |
probably benign |
Het |
Api5 |
G |
A |
2: 94,255,961 (GRCm39) |
T242M |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,893,313 (GRCm39) |
P160Q |
possibly damaging |
Het |
Ccdc88c |
T |
C |
12: 100,911,323 (GRCm39) |
E37G |
probably damaging |
Het |
Cfap96 |
T |
C |
8: 46,421,140 (GRCm39) |
I128V |
probably benign |
Het |
Cntnap4 |
C |
A |
8: 113,584,874 (GRCm39) |
Q1104K |
probably benign |
Het |
Cry1 |
A |
G |
10: 84,984,526 (GRCm39) |
S183P |
probably benign |
Het |
Cuzd1 |
A |
T |
7: 130,910,580 (GRCm39) |
F572I |
probably benign |
Het |
Dcbld1 |
A |
T |
10: 52,166,985 (GRCm39) |
D104V |
probably damaging |
Het |
Dhh |
C |
T |
15: 98,791,907 (GRCm39) |
G367E |
possibly damaging |
Het |
Drd3 |
T |
A |
16: 43,582,861 (GRCm39) |
V86E |
probably damaging |
Het |
Ebf1 |
A |
G |
11: 44,512,795 (GRCm39) |
T135A |
possibly damaging |
Het |
Epha5 |
T |
C |
5: 84,290,159 (GRCm39) |
I428V |
probably benign |
Het |
Epx |
T |
A |
11: 87,766,349 (GRCm39) |
|
probably benign |
Het |
Fam83d |
T |
A |
2: 158,627,227 (GRCm39) |
N305K |
probably benign |
Het |
Gchfr |
T |
A |
2: 119,000,236 (GRCm39) |
V39D |
probably benign |
Het |
Ggnbp2 |
A |
G |
11: 84,751,467 (GRCm39) |
L111P |
probably damaging |
Het |
Gnal |
G |
A |
18: 67,355,659 (GRCm39) |
G340D |
probably damaging |
Het |
Gpat2 |
A |
G |
2: 127,277,395 (GRCm39) |
E745G |
probably damaging |
Het |
Gpbp1l1 |
C |
T |
4: 116,450,045 (GRCm39) |
R438C |
probably damaging |
Het |
Hmgxb4 |
C |
T |
8: 75,756,200 (GRCm39) |
Q171* |
probably null |
Het |
Igkv4-91 |
G |
T |
6: 68,745,542 (GRCm39) |
R119S |
possibly damaging |
Het |
Ing2 |
T |
C |
8: 48,121,858 (GRCm39) |
D230G |
probably benign |
Het |
Itfg2 |
A |
G |
6: 128,393,017 (GRCm39) |
V82A |
probably damaging |
Het |
Klhl22 |
T |
C |
16: 17,594,890 (GRCm39) |
S340P |
probably damaging |
Het |
Lipm |
A |
T |
19: 34,093,871 (GRCm39) |
M263L |
probably benign |
Het |
Ly96 |
A |
T |
1: 16,758,787 (GRCm39) |
E19V |
possibly damaging |
Het |
Mark1 |
C |
T |
1: 184,644,829 (GRCm39) |
E376K |
possibly damaging |
Het |
Mlip |
T |
A |
9: 77,045,835 (GRCm39) |
M375L |
probably benign |
Het |
Mug1 |
A |
T |
6: 121,815,673 (GRCm39) |
N26Y |
probably benign |
Het |
Or2ad1 |
C |
T |
13: 21,327,170 (GRCm39) |
S19N |
probably benign |
Het |
Or55b3 |
T |
A |
7: 102,127,057 (GRCm39) |
T7S |
probably benign |
Het |
Or5m3 |
C |
T |
2: 85,838,939 (GRCm39) |
A273V |
probably benign |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,308,690 (GRCm39) |
|
probably null |
Het |
Rgs4 |
T |
C |
1: 169,571,336 (GRCm39) |
T178A |
probably benign |
Het |
Sel1l2 |
T |
A |
2: 140,182,043 (GRCm39) |
K31N |
possibly damaging |
Het |
Serpinf1 |
T |
C |
11: 75,301,022 (GRCm39) |
R398G |
probably damaging |
Het |
Sgo2b |
C |
T |
8: 64,393,078 (GRCm39) |
E120K |
possibly damaging |
Het |
Stard9 |
T |
C |
2: 120,530,931 (GRCm39) |
F2396S |
possibly damaging |
Het |
Trgv6 |
G |
A |
13: 19,374,610 (GRCm39) |
E25K |
probably benign |
Het |
Trpc3 |
A |
C |
3: 36,675,459 (GRCm39) |
I893S |
probably benign |
Het |
Trpc4ap |
C |
A |
2: 155,534,135 (GRCm39) |
R31L |
unknown |
Het |
Vat1l |
A |
G |
8: 114,998,172 (GRCm39) |
R239G |
possibly damaging |
Het |
Vmn1r56 |
T |
A |
7: 5,199,261 (GRCm39) |
R119* |
probably null |
Het |
Vmn2r111 |
T |
C |
17: 22,790,226 (GRCm39) |
Y260C |
probably damaging |
Het |
Zfp664 |
A |
G |
5: 124,963,070 (GRCm39) |
T155A |
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 |
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 |
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'- TCAAGGTACTCTACAAGACAACTGG -3'
(R):5'- TGGATTGCCACCTTTAAAAGC -3'
Sequencing Primer
(F):5'- GTACTCTACAAGACAACTGGAAATG -3'
(R):5'- GGATTGCCACCTTTAAAAGCTTCTC -3'
|
Posted On |
2019-05-13 |