Incidental Mutation 'R8691:Dhx40'
| ID |
668379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx40
|
| Ensembl Gene |
ENSMUSG00000018425 |
| Gene Name |
DEAH-box helicase 40 |
| Synonyms |
2410016C14Rik, ARG147, DDX40 |
| MMRRC Submission |
068545-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86659672-86698572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86690419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 201
(K201E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000018569
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
[ENSMUST00000148263]
|
| AlphaFold |
Q6PE54 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000018569
AA Change: K201E
PolyPhen 2
Score 0.628 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: K201E
| 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 |
possibly damaging
Transcript: ENSMUST00000148263
AA Change: K59E
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425
AA Change: K59E
| 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 |
|
| Meta Mutation Damage Score |
0.0785 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (54/55) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
T |
5: 30,310,287 (GRCm39) |
A24E |
unknown |
Het |
| Acap1 |
A |
G |
11: 69,781,003 (GRCm39) |
L117P |
probably damaging |
Het |
| Actl6b |
G |
A |
5: 137,565,585 (GRCm39) |
G394S |
probably damaging |
Het |
| Actr3b |
G |
T |
5: 26,030,202 (GRCm39) |
V177F |
possibly damaging |
Het |
| Adamts6 |
A |
G |
13: 104,450,839 (GRCm39) |
T341A |
probably benign |
Het |
| Agbl4 |
G |
T |
4: 111,520,156 (GRCm39) |
V474F |
probably benign |
Het |
| Atosa |
A |
T |
9: 74,917,335 (GRCm39) |
T652S |
probably benign |
Het |
| Bach1 |
T |
C |
16: 87,516,517 (GRCm39) |
S353P |
probably benign |
Het |
| C1qtnf9 |
G |
A |
14: 61,017,141 (GRCm39) |
D224N |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,421,260 (GRCm39) |
N121Y |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,129,078 (GRCm39) |
Y773N |
possibly damaging |
Het |
| Cbfa2t2 |
C |
A |
2: 154,342,403 (GRCm39) |
P40T |
possibly damaging |
Het |
| Colec10 |
A |
C |
15: 54,298,420 (GRCm39) |
E60D |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,800,280 (GRCm39) |
V1647A |
probably benign |
Het |
| Cyp2d34 |
A |
G |
15: 82,502,471 (GRCm39) |
F222L |
probably benign |
Het |
| Dennd1b |
A |
T |
1: 138,969,774 (GRCm39) |
I97F |
possibly damaging |
Het |
| Deptor |
A |
C |
15: 55,083,596 (GRCm39) |
D388A |
possibly damaging |
Het |
| Dnah6 |
G |
A |
6: 73,145,850 (GRCm39) |
R854C |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,877,517 (GRCm39) |
I409V |
possibly damaging |
Het |
| Eif1ad16 |
T |
G |
12: 87,985,278 (GRCm39) |
K88N |
probably damaging |
Het |
| Esp31 |
G |
T |
17: 38,955,592 (GRCm39) |
L78F |
possibly damaging |
Het |
| Fam98c |
A |
T |
7: 28,852,889 (GRCm39) |
V48E |
probably damaging |
Het |
| Fcgbpl1 |
A |
T |
7: 27,853,264 (GRCm39) |
E1517V |
possibly damaging |
Het |
| Fgfr1 |
A |
T |
8: 26,052,253 (GRCm39) |
D193V |
possibly damaging |
Het |
| Furin |
C |
T |
7: 80,041,775 (GRCm39) |
|
probably benign |
Het |
| Gm17078 |
A |
T |
14: 51,848,693 (GRCm39) |
F15I |
probably damaging |
Het |
| Grid2 |
G |
T |
6: 63,480,321 (GRCm39) |
R45L |
probably damaging |
Het |
| Hecw2 |
A |
G |
1: 53,904,223 (GRCm39) |
V1175A |
probably benign |
Het |
| Hspa1b |
T |
C |
17: 35,176,072 (GRCm39) |
I638V |
possibly damaging |
Het |
| Ighv6-7 |
A |
G |
12: 114,419,304 (GRCm39) |
V100A |
probably benign |
Het |
| Itch |
G |
T |
2: 155,052,478 (GRCm39) |
E693* |
probably null |
Het |
| Ivl |
G |
A |
3: 92,478,823 (GRCm39) |
S414L |
unknown |
Het |
| Kif5b |
T |
A |
18: 6,225,787 (GRCm39) |
N160I |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,306,881 (GRCm39) |
|
probably benign |
Het |
| Lpin1 |
C |
T |
12: 16,623,660 (GRCm39) |
|
probably benign |
Het |
| Malsu1 |
C |
A |
6: 49,052,171 (GRCm39) |
H130Q |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,297,676 (GRCm39) |
L787V |
probably damaging |
Het |
| Nynrin |
C |
T |
14: 56,110,106 (GRCm39) |
R1738W |
probably damaging |
Het |
| Or11g27 |
A |
G |
14: 50,770,910 (GRCm39) |
T14A |
probably benign |
Het |
| Or4e1 |
A |
T |
14: 52,701,358 (GRCm39) |
I36N |
possibly damaging |
Het |
| Or51d1 |
C |
T |
7: 102,347,777 (GRCm39) |
Q111* |
probably null |
Het |
| Or7e176 |
T |
A |
9: 20,171,747 (GRCm39) |
S204T |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,571,706 (GRCm39) |
T364A |
unknown |
Het |
| Phlda2 |
A |
C |
7: 143,056,206 (GRCm39) |
S8A |
probably benign |
Het |
| Pou3f1 |
G |
A |
4: 124,551,549 (GRCm39) |
G17E |
unknown |
Het |
| Ppfibp2 |
A |
G |
7: 107,346,785 (GRCm39) |
D899G |
probably damaging |
Het |
| Pskh1 |
T |
C |
8: 106,639,833 (GRCm39) |
V171A |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,816,513 (GRCm39) |
T1262A |
probably damaging |
Het |
| Rnf41 |
T |
C |
10: 128,274,077 (GRCm39) |
V243A |
probably benign |
Het |
| Slc9c1 |
T |
A |
16: 45,427,182 (GRCm39) |
N1162K |
probably benign |
Het |
| Spef2 |
A |
T |
15: 9,602,005 (GRCm39) |
L1419* |
probably null |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,880,313 (GRCm39) |
C1954R |
probably damaging |
Het |
| Ttll11 |
T |
A |
2: 35,674,161 (GRCm39) |
I622F |
probably damaging |
Het |
| Utp25 |
T |
C |
1: 192,796,110 (GRCm39) |
E673G |
probably benign |
Het |
| Vmn2r104 |
A |
G |
17: 20,262,110 (GRCm39) |
I340T |
probably damaging |
Het |
| Vmn2r110 |
G |
T |
17: 20,803,404 (GRCm39) |
D390E |
probably benign |
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 |
|
|
R8380:Dhx40
|
UTSW |
11 |
86,697,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAGAAGTCCTAGCATTCATTAAGGC -3'
(R):5'- GGCTTCAAAGATAGATAGATAGGCTTC -3'
Sequencing Primer
(F):5'- TTGCCACACAAGCTTGATGG -3'
(R):5'- GATCGATCAAAGATAGATAGATC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation