Incidental Mutation 'R8380:Dhx40'
ID |
646915 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dhx40
|
Ensembl Gene |
ENSMUSG00000018425 |
Gene Name |
DEAH-box helicase 40 |
Synonyms |
2410016C14Rik, ARG147, DDX40 |
MMRRC Submission |
067747-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8380 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
86659672-86698572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 86697411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 52
(T52M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
|
AlphaFold |
Q6PE54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018569
AA Change: T52M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000018569 Gene: ENSMUSG00000018425 AA Change: T52M
Domain | Start | End | E-Value | Type |
DEXDc
|
47 |
240 |
6.32e-33 |
SMART |
HELICc
|
283 |
401 |
3.08e-13 |
SMART |
HA2
|
462 |
557 |
1.92e-21 |
SMART |
Pfam:OB_NTP_bind
|
588 |
699 |
1.7e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DExH/D box family of ATP-dependent RNA helicases that have an essential role in RNA metabolism. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 17.[provided by RefSeq, Oct 2009]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam2 |
C |
T |
14: 66,275,006 (GRCm39) |
V576I |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,995,219 (GRCm39) |
V5501A |
probably benign |
Het |
Als2 |
T |
C |
1: 59,250,467 (GRCm39) |
T426A |
probably benign |
Het |
Armc7 |
G |
T |
11: 115,366,726 (GRCm39) |
|
probably benign |
Het |
Atp6v1b2 |
A |
G |
8: 69,556,042 (GRCm39) |
E239G |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ccdc121rt3 |
T |
C |
5: 112,503,191 (GRCm39) |
D171G |
probably benign |
Het |
Cenpc1 |
C |
A |
5: 86,194,275 (GRCm39) |
A164S |
probably benign |
Het |
Cep131 |
T |
A |
11: 119,967,854 (GRCm39) |
R134W |
probably damaging |
Het |
Chek1 |
T |
A |
9: 36,623,408 (GRCm39) |
N422I |
probably benign |
Het |
Clip2 |
T |
C |
5: 134,531,651 (GRCm39) |
E718G |
probably damaging |
Het |
Cyp2c70 |
C |
T |
19: 40,175,669 (GRCm39) |
C13Y |
probably benign |
Het |
Dnhd1 |
G |
T |
7: 105,327,073 (GRCm39) |
R674L |
probably benign |
Het |
Lrrc36 |
T |
A |
8: 106,153,460 (GRCm39) |
V90E |
probably damaging |
Het |
Neb |
A |
G |
2: 52,087,823 (GRCm39) |
Y5459H |
probably benign |
Het |
Nt5c2 |
A |
T |
19: 46,877,489 (GRCm39) |
M484K |
probably damaging |
Het |
Or10c1 |
T |
A |
17: 37,522,232 (GRCm39) |
N171Y |
possibly damaging |
Het |
Or10q1b |
T |
C |
19: 13,682,608 (GRCm39) |
I139T |
probably benign |
Het |
Or11g26 |
T |
C |
14: 50,753,297 (GRCm39) |
V212A |
probably benign |
Het |
Papss1 |
C |
T |
3: 131,337,456 (GRCm39) |
P539L |
probably damaging |
Het |
Pdlim3 |
A |
T |
8: 46,370,572 (GRCm39) |
M243L |
probably benign |
Het |
Pls1 |
G |
A |
9: 95,657,438 (GRCm39) |
H303Y |
probably benign |
Het |
Pomt1 |
A |
G |
2: 32,135,619 (GRCm39) |
T328A |
probably damaging |
Het |
Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
Scaf4 |
A |
G |
16: 90,057,133 (GRCm39) |
S73P |
unknown |
Het |
Snrpa |
G |
T |
7: 26,886,713 (GRCm39) |
Q261K |
possibly damaging |
Het |
Top1 |
A |
G |
2: 160,559,315 (GRCm39) |
N613D |
probably benign |
Het |
Vill |
A |
G |
9: 118,886,917 (GRCm39) |
T21A |
probably benign |
Het |
Wdr1 |
C |
G |
5: 38,697,864 (GRCm39) |
D234H |
possibly damaging |
Het |
|
Other mutations in Dhx40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02366:Dhx40
|
APN |
11 |
86,667,528 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02818:Dhx40
|
APN |
11 |
86,690,331 (GRCm39) |
missense |
probably benign |
0.26 |
IGL02932:Dhx40
|
APN |
11 |
86,662,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R0312:Dhx40
|
UTSW |
11 |
86,662,775 (GRCm39) |
missense |
probably damaging |
0.99 |
R0485:Dhx40
|
UTSW |
11 |
86,662,088 (GRCm39) |
unclassified |
probably benign |
|
R0542:Dhx40
|
UTSW |
11 |
86,695,082 (GRCm39) |
critical splice donor site |
probably null |
|
R0565:Dhx40
|
UTSW |
11 |
86,661,993 (GRCm39) |
missense |
probably damaging |
0.97 |
R1218:Dhx40
|
UTSW |
11 |
86,690,310 (GRCm39) |
missense |
probably benign |
0.13 |
R1406:Dhx40
|
UTSW |
11 |
86,688,571 (GRCm39) |
missense |
probably benign |
0.01 |
R1406:Dhx40
|
UTSW |
11 |
86,688,571 (GRCm39) |
missense |
probably benign |
0.01 |
R1544:Dhx40
|
UTSW |
11 |
86,697,379 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1550:Dhx40
|
UTSW |
11 |
86,667,565 (GRCm39) |
splice site |
probably null |
|
R1839:Dhx40
|
UTSW |
11 |
86,680,123 (GRCm39) |
missense |
possibly damaging |
0.46 |
R2923:Dhx40
|
UTSW |
11 |
86,680,089 (GRCm39) |
missense |
probably benign |
0.26 |
R3743:Dhx40
|
UTSW |
11 |
86,661,985 (GRCm39) |
missense |
probably damaging |
0.99 |
R3864:Dhx40
|
UTSW |
11 |
86,680,071 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4902:Dhx40
|
UTSW |
11 |
86,662,036 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4918:Dhx40
|
UTSW |
11 |
86,695,217 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5119:Dhx40
|
UTSW |
11 |
86,667,462 (GRCm39) |
missense |
probably damaging |
0.99 |
R5416:Dhx40
|
UTSW |
11 |
86,688,517 (GRCm39) |
missense |
probably benign |
0.01 |
R5531:Dhx40
|
UTSW |
11 |
86,680,330 (GRCm39) |
missense |
possibly damaging |
0.45 |
R5677:Dhx40
|
UTSW |
11 |
86,691,789 (GRCm39) |
splice site |
probably null |
|
R6270:Dhx40
|
UTSW |
11 |
86,690,431 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6431:Dhx40
|
UTSW |
11 |
86,664,649 (GRCm39) |
missense |
probably damaging |
0.97 |
R6456:Dhx40
|
UTSW |
11 |
86,675,800 (GRCm39) |
missense |
probably damaging |
1.00 |
R6594:Dhx40
|
UTSW |
11 |
86,676,599 (GRCm39) |
missense |
possibly damaging |
0.74 |
R6599:Dhx40
|
UTSW |
11 |
86,695,175 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7069:Dhx40
|
UTSW |
11 |
86,688,569 (GRCm39) |
missense |
probably benign |
0.06 |
R7268:Dhx40
|
UTSW |
11 |
86,697,442 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7470:Dhx40
|
UTSW |
11 |
86,667,528 (GRCm39) |
missense |
probably damaging |
0.98 |
R7632:Dhx40
|
UTSW |
11 |
86,690,263 (GRCm39) |
missense |
probably benign |
0.42 |
R7728:Dhx40
|
UTSW |
11 |
86,662,759 (GRCm39) |
missense |
probably damaging |
0.98 |
R7788:Dhx40
|
UTSW |
11 |
86,666,502 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7869:Dhx40
|
UTSW |
11 |
86,688,532 (GRCm39) |
missense |
probably benign |
0.02 |
R7889:Dhx40
|
UTSW |
11 |
86,689,793 (GRCm39) |
missense |
probably benign |
0.01 |
R8046:Dhx40
|
UTSW |
11 |
86,675,766 (GRCm39) |
nonsense |
probably null |
|
R8691:Dhx40
|
UTSW |
11 |
86,690,419 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8992:Dhx40
|
UTSW |
11 |
86,667,582 (GRCm39) |
intron |
probably benign |
|
R9153:Dhx40
|
UTSW |
11 |
86,690,365 (GRCm39) |
missense |
probably damaging |
0.97 |
R9157:Dhx40
|
UTSW |
11 |
86,662,050 (GRCm39) |
missense |
probably damaging |
0.98 |
R9277:Dhx40
|
UTSW |
11 |
86,661,056 (GRCm39) |
missense |
probably benign |
0.33 |
X0021:Dhx40
|
UTSW |
11 |
86,664,640 (GRCm39) |
missense |
possibly damaging |
0.84 |
X0066:Dhx40
|
UTSW |
11 |
86,697,328 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- AGGATCTGACAAAGCAACGC -3'
(R):5'- ACTTTCACGTGTGATTTGTACATGG -3'
Sequencing Primer
(F):5'- GGGCATTTGCACACTACAGTAC -3'
(R):5'- CATGGTTGACGTAACTGAAAAGTC -3'
|
Posted On |
2020-09-02 |