Incidental Mutation 'R7457:Dhx16'
| ID |
578227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx16
|
| Ensembl Gene |
ENSMUSG00000024422 |
| Gene Name |
DEAH-box helicase 16 |
| Synonyms |
DBP2, DEAH (Asp-Glu-Ala-His) box polypeptide 16, Ddx16, 2410006N22Rik |
| MMRRC Submission |
045531-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
36190711-36203562 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 36201952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 993
(V993A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025292
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025292]
[ENSMUST00000146451]
[ENSMUST00000148482]
[ENSMUST00000148721]
[ENSMUST00000150056]
[ENSMUST00000156817]
[ENSMUST00000174366]
|
| AlphaFold |
G3X8X0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025292
AA Change: V993A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000025292
Gene: ENSMUSG00000024422
AA Change: V993A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
55 |
310 |
6e-57 |
BLAST |
|
DEXDc
|
400 |
585 |
7.26e-33 |
SMART |
|
HELICc
|
636 |
733 |
1.7e-15 |
SMART |
|
HA2
|
794 |
885 |
2.24e-31 |
SMART |
|
Pfam:OB_NTP_bind
|
901 |
1018 |
3.6e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059740
|
| SMART Domains |
Protein: ENSMUSP00000050693
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
66 |
N/A |
INTRINSIC |
|
Pfam:DUF2358
|
75 |
200 |
5.1e-37 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146451
|
| SMART Domains |
Protein: ENSMUSP00000115771
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
Pfam:DUF2358
|
66 |
191 |
1.5e-35 |
PFAM |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148482
|
| SMART Domains |
Protein: ENSMUSP00000114151
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
Pfam:DUF2358
|
66 |
191 |
1.5e-35 |
PFAM |
|
low complexity region
|
206 |
219 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148721
|
| SMART Domains |
Protein: ENSMUSP00000116278
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
79 |
N/A |
INTRINSIC |
|
low complexity region
|
128 |
140 |
N/A |
INTRINSIC |
|
Pfam:DUF2358
|
149 |
274 |
1.4e-36 |
PFAM |
|
low complexity region
|
289 |
302 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150056
|
| SMART Domains |
Protein: ENSMUSP00000121142
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
57 |
N/A |
INTRINSIC |
|
Pfam:DUF2358
|
66 |
130 |
5e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154670
|
| SMART Domains |
Protein: ENSMUSP00000123547
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2358
|
2 |
97 |
7.4e-24 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156817
|
| SMART Domains |
Protein: ENSMUSP00000114851
Gene: ENSMUSG00000050705
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
16 |
60 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173967
|
| SMART Domains |
Protein: ENSMUSP00000133818
Gene: ENSMUSG00000024422
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
2 |
83 |
5e-35 |
BLAST |
|
PDB:3I4U|A
|
4 |
83 |
6e-14 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174366
|
| SMART Domains |
Protein: ENSMUSP00000133888
Gene: ENSMUSG00000024422
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
55 |
310 |
9e-58 |
BLAST |
|
DEXDc
|
400 |
585 |
7.26e-33 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a functional homolog of fission yeast Prp8 protein involved in cell cycle progression. This gene is mapped to the MHC region on chromosome 6p21.3, a region where many malignant, genetic and autoimmune disease genes are linked. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,374,635 (GRCm39) |
H452Q |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,792,529 (GRCm39) |
N142K |
possibly damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,343,056 (GRCm39) |
S57R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,420,192 (GRCm39) |
T780A |
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,960,833 (GRCm39) |
|
probably null |
Het |
| Cdyl2 |
A |
T |
8: 117,305,935 (GRCm39) |
V442E |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,021 (GRCm39) |
R218C |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Clec11a |
T |
C |
7: 43,955,379 (GRCm39) |
T139A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,719,373 (GRCm39) |
T411S |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,824 (GRCm39) |
S74C |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,560 (GRCm39) |
P368Q |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,176,622 (GRCm39) |
M309V |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,611 (GRCm39) |
V257E |
probably benign |
Het |
| Dok5 |
A |
T |
2: 170,712,735 (GRCm39) |
Q247L |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,359,582 (GRCm39) |
E331V |
unknown |
Het |
| Efs |
A |
G |
14: 55,157,451 (GRCm39) |
S287P |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,193,667 (GRCm39) |
N1384S |
possibly damaging |
Het |
| Flt4 |
A |
G |
11: 49,521,155 (GRCm39) |
E388G |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,331,303 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
T |
C |
1: 162,621,672 (GRCm39) |
Y513C |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,267,419 (GRCm39) |
E500G |
probably damaging |
Het |
| Gm29106 |
T |
C |
1: 118,126,982 (GRCm39) |
S225P |
probably damaging |
Het |
| Gstt2 |
G |
A |
10: 75,668,354 (GRCm39) |
R134W |
probably damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,630,401 (GRCm39) |
T782A |
probably benign |
Het |
| Gzf1 |
G |
T |
2: 148,532,002 (GRCm39) |
R543L |
probably damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,553,321 (GRCm39) |
G169E |
probably damaging |
Het |
| Hdhd3 |
T |
A |
4: 62,418,027 (GRCm39) |
R50W |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,355,944 (GRCm39) |
K407E |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,452,240 (GRCm39) |
T271A |
probably benign |
Het |
| Kbtbd7 |
GTCTCTC |
GTC |
14: 79,665,364 (GRCm39) |
|
probably null |
Het |
| Kdm4b |
T |
A |
17: 56,703,319 (GRCm39) |
N671K |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,586,655 (GRCm39) |
L939H |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,789 (GRCm39) |
M822K |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,824,330 (GRCm39) |
T217N |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,532,189 (GRCm39) |
Y2083* |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,362,233 (GRCm39) |
|
probably benign |
Het |
| Nkx2-3 |
A |
G |
19: 43,600,986 (GRCm39) |
D16G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,167,807 (GRCm39) |
S697P |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,456 (GRCm39) |
K62R |
possibly damaging |
Het |
| Or1e29 |
G |
C |
11: 73,667,652 (GRCm39) |
S167C |
probably benign |
Het |
| Or4k6 |
A |
T |
14: 50,475,825 (GRCm39) |
N172K |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,575 (GRCm39) |
V266A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,107,503 (GRCm39) |
D638V |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,771,621 (GRCm39) |
D200G |
probably benign |
Het |
| Ptprs |
G |
T |
17: 56,726,502 (GRCm39) |
T1366K |
probably damaging |
Het |
| Sass6 |
A |
T |
3: 116,413,813 (GRCm39) |
R505S |
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,714,233 (GRCm39) |
I84T |
probably benign |
Het |
| Sox10 |
A |
T |
15: 79,040,339 (GRCm39) |
F400L |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,723 (GRCm39) |
I624F |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,735,006 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,963,309 (GRCm39) |
K340N |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,772,682 (GRCm39) |
H289L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,748,309 (GRCm39) |
T809S |
probably benign |
Het |
| Vmn1r43 |
C |
T |
6: 89,847,172 (GRCm39) |
V105M |
probably damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,534 (GRCm39) |
V156A |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,236 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
T |
A |
8: 108,244,592 (GRCm39) |
S255T |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,316,538 (GRCm39) |
T117A |
possibly damaging |
Het |
| Zfp800 |
C |
T |
6: 28,244,228 (GRCm39) |
V246I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,463,025 (GRCm39) |
Y35* |
probably null |
Het |
|
| Other mutations in Dhx16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00949:Dhx16
|
APN |
17 |
36,198,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01533:Dhx16
|
APN |
17 |
36,192,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01743:Dhx16
|
APN |
17 |
36,199,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01946:Dhx16
|
APN |
17 |
36,196,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02170:Dhx16
|
APN |
17 |
36,200,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02327:Dhx16
|
APN |
17 |
36,194,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02334:Dhx16
|
APN |
17 |
36,194,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02417:Dhx16
|
APN |
17 |
36,203,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0403:Dhx16
|
UTSW |
17 |
36,193,942 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0410:Dhx16
|
UTSW |
17 |
36,201,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Dhx16
|
UTSW |
17 |
36,192,551 (GRCm39) |
missense |
probably benign |
0.35 |
|
R0835:Dhx16
|
UTSW |
17 |
36,192,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0845:Dhx16
|
UTSW |
17 |
36,194,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Dhx16
|
UTSW |
17 |
36,201,957 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Dhx16
|
UTSW |
17 |
36,196,511 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1905:Dhx16
|
UTSW |
17 |
36,199,247 (GRCm39) |
missense |
probably benign |
|
|
R2233:Dhx16
|
UTSW |
17 |
36,198,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Dhx16
|
UTSW |
17 |
36,198,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4647:Dhx16
|
UTSW |
17 |
36,196,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4648:Dhx16
|
UTSW |
17 |
36,196,527 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4665:Dhx16
|
UTSW |
17 |
36,190,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Dhx16
|
UTSW |
17 |
36,196,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4862:Dhx16
|
UTSW |
17 |
36,194,154 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5089:Dhx16
|
UTSW |
17 |
36,194,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Dhx16
|
UTSW |
17 |
36,194,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5665:Dhx16
|
UTSW |
17 |
36,201,978 (GRCm39) |
nonsense |
probably null |
|
|
R5748:Dhx16
|
UTSW |
17 |
36,194,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5763:Dhx16
|
UTSW |
17 |
36,192,580 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5956:Dhx16
|
UTSW |
17 |
36,193,762 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6001:Dhx16
|
UTSW |
17 |
36,194,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6216:Dhx16
|
UTSW |
17 |
36,193,864 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R6420:Dhx16
|
UTSW |
17 |
36,193,906 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6467:Dhx16
|
UTSW |
17 |
36,197,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7326:Dhx16
|
UTSW |
17 |
36,197,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Dhx16
|
UTSW |
17 |
36,199,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7736:Dhx16
|
UTSW |
17 |
36,192,568 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8508:Dhx16
|
UTSW |
17 |
36,196,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Dhx16
|
UTSW |
17 |
36,192,183 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8733:Dhx16
|
UTSW |
17 |
36,192,267 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8831:Dhx16
|
UTSW |
17 |
36,199,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Dhx16
|
UTSW |
17 |
36,193,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9194:Dhx16
|
UTSW |
17 |
36,200,173 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9350:Dhx16
|
UTSW |
17 |
36,200,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9625:Dhx16
|
UTSW |
17 |
36,193,413 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGGGTCCTTCACTGAGTC -3'
(R):5'- GAGGACTATACCACTGAGCTCC -3'
Sequencing Primer
(F):5'- ACCTTTTTAGTGGTGCCTGAC -3'
(R):5'- TATACCACTGAGCTCCAACCCAAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation