Incidental Mutation 'R5732:Dhx35'
| ID |
451471 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx35
|
| Ensembl Gene |
ENSMUSG00000027655 |
| Gene Name |
DEAH-box helicase 35 |
| Synonyms |
1200009D07Rik, Ddx35 |
| MMRRC Submission |
043347-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
158636727-158700134 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 158673705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 379
(V379M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105104
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029186]
[ENSMUST00000109478]
[ENSMUST00000156893]
|
| AlphaFold |
A2ACQ1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029186
AA Change: V379M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: V379M
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
55 |
248 |
1.17e-18 |
SMART |
|
HELICc
|
299 |
398 |
8.76e-18 |
SMART |
|
HA2
|
458 |
549 |
1.49e-27 |
SMART |
|
Pfam:OB_NTP_bind
|
628 |
660 |
2.7e-10 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109478
AA Change: V379M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: V379M
| Domain | Start | End | E-Value | Type |
|---|
|
DEXDc
|
55 |
248 |
1.17e-18 |
SMART |
|
HELICc
|
299 |
398 |
8.76e-18 |
SMART |
|
HA2
|
458 |
549 |
1.49e-27 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145692
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156893
|
| SMART Domains |
Protein: ENSMUSP00000119497
Gene: ENSMUSG00000027655
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3LLM|B
|
7 |
115 |
1e-10 |
PDB |
|
Blast:DEXDc
|
55 |
119 |
5e-37 |
BLAST |
|
SCOP:d1jpna2
|
63 |
115 |
3e-10 |
SMART |
|
PDB:3KX2|A
|
116 |
204 |
1e-10 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157070
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
| Validation Efficiency |
|
| 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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
| Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
| Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
| Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
| Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
| Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
| Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
| Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
| Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
| Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
| Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly damaging |
Het |
|
| Other mutations in Dhx35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Dhx35
|
APN |
2 |
158,669,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Dhx35
|
APN |
2 |
158,673,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02899:Dhx35
|
APN |
2 |
158,643,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02927:Dhx35
|
APN |
2 |
158,662,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03224:Dhx35
|
APN |
2 |
158,699,052 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0112:Dhx35
|
UTSW |
2 |
158,682,540 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0200:Dhx35
|
UTSW |
2 |
158,671,543 (GRCm39) |
missense |
probably benign |
|
|
R0609:Dhx35
|
UTSW |
2 |
158,659,335 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0714:Dhx35
|
UTSW |
2 |
158,686,103 (GRCm39) |
missense |
probably benign |
|
|
R0884:Dhx35
|
UTSW |
2 |
158,673,631 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1775:Dhx35
|
UTSW |
2 |
158,648,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1912:Dhx35
|
UTSW |
2 |
158,684,227 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2136:Dhx35
|
UTSW |
2 |
158,673,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4094:Dhx35
|
UTSW |
2 |
158,684,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4364:Dhx35
|
UTSW |
2 |
158,684,272 (GRCm39) |
nonsense |
probably null |
|
|
R4421:Dhx35
|
UTSW |
2 |
158,648,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4565:Dhx35
|
UTSW |
2 |
158,691,455 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5517:Dhx35
|
UTSW |
2 |
158,676,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5979:Dhx35
|
UTSW |
2 |
158,684,789 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6054:Dhx35
|
UTSW |
2 |
158,660,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6405:Dhx35
|
UTSW |
2 |
158,636,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6452:Dhx35
|
UTSW |
2 |
158,673,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6519:Dhx35
|
UTSW |
2 |
158,673,630 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8700:Dhx35
|
UTSW |
2 |
158,682,552 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8894:Dhx35
|
UTSW |
2 |
158,676,795 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8906:Dhx35
|
UTSW |
2 |
158,648,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8960:Dhx35
|
UTSW |
2 |
158,657,393 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9349:Dhx35
|
UTSW |
2 |
158,671,444 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9765:Dhx35
|
UTSW |
2 |
158,671,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGCTGGTCTTACGCTC -3'
(R):5'- TGCCAGGAGGGACAAATGTC -3'
Sequencing Primer
(F):5'- CCTGGTAGCAGGATGTTTGAAATAG -3'
(R):5'- AATGTCTGCCCTGGGATCCAAAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation