Incidental Mutation 'IGL02366:Dhx40'
ID |
290714 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dhx40
|
Ensembl Gene |
ENSMUSG00000018425 |
Gene Name |
DEAH-box helicase 40 |
Synonyms |
2410016C14Rik, ARG147, DDX40 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02366
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
86659672-86698572 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86667528 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 537
(E537G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000018569
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
[ENSMUST00000148263]
|
AlphaFold |
Q6PE54 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000018569
AA Change: E537G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000018569 Gene: ENSMUSG00000018425 AA Change: E537G
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000148263
AA Change: E239G
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000114918 Gene: ENSMUSG00000018425 AA Change: E239G
Domain | Start | End | E-Value | Type |
Blast:DEXDc
|
1 |
96 |
3e-60 |
BLAST |
SCOP:d1a1va1
|
4 |
59 |
5e-7 |
SMART |
HA2
|
164 |
259 |
1.92e-21 |
SMART |
|
Coding Region Coverage |
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6030458C11Rik |
T |
A |
15: 12,810,859 (GRCm39) |
H339L |
probably benign |
Het |
Abcc1 |
T |
C |
16: 14,285,843 (GRCm39) |
|
probably benign |
Het |
Ankrd55 |
T |
C |
13: 112,454,994 (GRCm39) |
Y3H |
probably damaging |
Het |
Armcx4 |
A |
C |
X: 133,592,261 (GRCm39) |
K723T |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,577,481 (GRCm39) |
V172D |
possibly damaging |
Het |
Cemip |
C |
T |
7: 83,592,849 (GRCm39) |
R1226Q |
probably benign |
Het |
Cntn5 |
A |
T |
9: 9,984,060 (GRCm39) |
|
probably benign |
Het |
Cyld |
T |
C |
8: 89,456,381 (GRCm39) |
V474A |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,486 (GRCm39) |
N140D |
probably damaging |
Het |
Eif6 |
A |
G |
2: 155,668,092 (GRCm39) |
V49A |
probably benign |
Het |
Epha4 |
G |
T |
1: 77,403,348 (GRCm39) |
Y386* |
probably null |
Het |
Ggnbp2 |
T |
C |
11: 84,732,427 (GRCm39) |
K222R |
probably damaging |
Het |
Gm5117 |
T |
C |
8: 32,227,887 (GRCm39) |
|
noncoding transcript |
Het |
Gm5852 |
A |
T |
3: 93,634,568 (GRCm39) |
|
noncoding transcript |
Het |
Hadha |
A |
G |
5: 30,340,048 (GRCm39) |
V243A |
probably benign |
Het |
Hal |
A |
G |
10: 93,339,390 (GRCm39) |
N493S |
probably damaging |
Het |
Insrr |
A |
G |
3: 87,717,216 (GRCm39) |
T731A |
possibly damaging |
Het |
Irs4 |
A |
T |
X: 140,506,900 (GRCm39) |
L432H |
probably damaging |
Het |
Kdm4a |
T |
G |
4: 118,017,703 (GRCm39) |
|
probably null |
Het |
Lhx4 |
T |
C |
1: 155,580,934 (GRCm39) |
D197G |
possibly damaging |
Het |
Mllt10 |
T |
A |
2: 18,069,898 (GRCm39) |
M18K |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,636,599 (GRCm39) |
T422A |
possibly damaging |
Het |
Ncf2 |
A |
G |
1: 152,710,824 (GRCm39) |
D445G |
probably benign |
Het |
Ndor1 |
C |
A |
2: 25,137,993 (GRCm39) |
G544V |
possibly damaging |
Het |
Notch3 |
C |
A |
17: 32,363,179 (GRCm39) |
R1268L |
probably benign |
Het |
Or51ac3 |
A |
T |
7: 103,213,622 (GRCm39) |
V288D |
probably damaging |
Het |
Or5b117 |
T |
C |
19: 13,431,491 (GRCm39) |
Y130C |
probably damaging |
Het |
Or6c202 |
A |
T |
10: 128,996,494 (GRCm39) |
Y120N |
probably damaging |
Het |
Or8g2 |
T |
C |
9: 39,821,288 (GRCm39) |
L63P |
probably damaging |
Het |
Osgep |
T |
C |
14: 51,157,407 (GRCm39) |
D72G |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,054,085 (GRCm39) |
T88I |
probably benign |
Het |
Pcgf6 |
T |
C |
19: 47,038,894 (GRCm39) |
E122G |
possibly damaging |
Het |
Ppp1r21 |
A |
G |
17: 88,855,090 (GRCm39) |
H123R |
probably damaging |
Het |
Prex1 |
A |
C |
2: 166,422,347 (GRCm39) |
L28R |
probably damaging |
Het |
Rbl1 |
A |
T |
2: 157,016,813 (GRCm39) |
N595K |
probably benign |
Het |
Rnf148 |
T |
C |
6: 23,654,058 (GRCm39) |
I313V |
probably benign |
Het |
Rnf220 |
T |
C |
4: 117,346,980 (GRCm39) |
N144S |
probably benign |
Het |
Sbno2 |
G |
A |
10: 79,900,036 (GRCm39) |
T577I |
probably damaging |
Het |
Sez6 |
T |
C |
11: 77,867,708 (GRCm39) |
I875T |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,195,941 (GRCm39) |
V354D |
possibly damaging |
Het |
Slit2 |
A |
T |
5: 48,461,410 (GRCm39) |
T1486S |
possibly damaging |
Het |
Snd1 |
T |
C |
6: 28,707,149 (GRCm39) |
|
probably benign |
Het |
Sval3 |
T |
C |
6: 41,946,659 (GRCm39) |
|
probably benign |
Het |
Tmem94 |
T |
C |
11: 115,688,258 (GRCm39) |
L1239P |
probably damaging |
Het |
Trpm6 |
T |
C |
19: 18,755,874 (GRCm39) |
|
probably benign |
Het |
Ttc9 |
A |
C |
12: 81,678,384 (GRCm39) |
D69A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,593,580 (GRCm39) |
L20687M |
probably benign |
Het |
Zfp748 |
T |
A |
13: 67,693,546 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dhx40 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
R8380:Dhx40
|
UTSW |
11 |
86,697,411 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
Posted On |
2015-04-16 |