Incidental Mutation 'R6594:Dhx40'
| ID |
524805 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx40
|
| Ensembl Gene |
ENSMUSG00000018425 |
| Gene Name |
DEAH-box helicase 40 |
| Synonyms |
2410016C14Rik, ARG147, DDX40 |
| MMRRC Submission |
044718-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
86659672-86698572 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86676599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 172
(C172S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
[ENSMUST00000148263]
|
| AlphaFold |
Q6PE54 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018569
AA Change: C470S
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: C470S
| 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 |
noncoding transcript
Transcript: ENSMUST00000136977
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148263
AA Change: C172S
PolyPhen 2
Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425
AA Change: C172S
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (52/54) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,113,432 (GRCm39) |
N296S |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,244,632 (GRCm39) |
N2165I |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,491,109 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,089,647 (GRCm39) |
I145L |
probably benign |
Het |
| Ccar2 |
G |
A |
14: 70,377,925 (GRCm39) |
L687F |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,246,537 (GRCm39) |
|
probably null |
Het |
| Chchd10 |
A |
C |
10: 75,772,158 (GRCm39) |
Q43P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,704,988 (GRCm39) |
E415G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,471 (GRCm39) |
|
probably null |
Het |
| Epha1 |
G |
A |
6: 42,341,625 (GRCm39) |
T475I |
probably benign |
Het |
| Eri1 |
T |
C |
8: 35,949,687 (GRCm39) |
T91A |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,955,783 (GRCm39) |
A158V |
probably benign |
Het |
| Gm11437 |
C |
T |
11: 84,055,386 (GRCm39) |
G77R |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,812,041 (GRCm39) |
N94D |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Haus4 |
C |
A |
14: 54,781,268 (GRCm39) |
E269D |
possibly damaging |
Het |
| Hyou1 |
T |
C |
9: 44,300,619 (GRCm39) |
M896T |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,091,978 (GRCm39) |
M2174L |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,720,299 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,949,035 (GRCm39) |
M1488V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,270,267 (GRCm39) |
T4106A |
possibly damaging |
Het |
| Lrrc20 |
G |
A |
10: 61,318,225 (GRCm39) |
V16I |
possibly damaging |
Het |
| Mecr |
T |
A |
4: 131,582,004 (GRCm39) |
V162E |
probably damaging |
Het |
| Ms4a4a |
C |
A |
19: 11,363,778 (GRCm39) |
A102E |
probably damaging |
Het |
| Mycn |
T |
C |
12: 12,990,051 (GRCm39) |
D115G |
probably damaging |
Het |
| Ninj2 |
A |
T |
6: 120,175,750 (GRCm39) |
T138S |
possibly damaging |
Het |
| Oasl2 |
G |
A |
5: 115,044,836 (GRCm39) |
V121I |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,239 (GRCm39) |
L216P |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,309 (GRCm39) |
S215T |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,127 (GRCm39) |
F61S |
probably damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,144,235 (GRCm39) |
I109L |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,739,498 (GRCm39) |
K457* |
probably null |
Het |
| Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,269,126 (GRCm39) |
K1571* |
probably null |
Het |
| Sec24d |
G |
T |
3: 123,087,412 (GRCm39) |
G193C |
probably damaging |
Het |
| Sema3b |
A |
T |
9: 107,476,025 (GRCm39) |
M732K |
probably benign |
Het |
| Serpinb8 |
T |
C |
1: 107,525,201 (GRCm39) |
M1T |
probably null |
Het |
| Sgip1 |
T |
A |
4: 102,819,676 (GRCm39) |
V594E |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,685,410 (GRCm39) |
S197G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,660 (GRCm39) |
V520A |
possibly damaging |
Het |
| Surf6 |
G |
T |
2: 26,792,761 (GRCm39) |
D13E |
possibly damaging |
Het |
| Tmem94 |
G |
A |
11: 115,689,112 (GRCm39) |
R1341H |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Traf7 |
A |
G |
17: 24,728,813 (GRCm39) |
V591A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,220 (GRCm39) |
S341P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,694,351 (GRCm39) |
V398A |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,771,617 (GRCm39) |
E14* |
probably null |
Het |
| Unc119 |
T |
A |
11: 78,238,046 (GRCm39) |
Y10N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,642,995 (GRCm39) |
L4119P |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r4 |
A |
G |
3: 64,296,731 (GRCm39) |
S685P |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,535 (GRCm39) |
M787V |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,892 (GRCm39) |
H487R |
probably benign |
Het |
| Xcr1 |
A |
G |
9: 123,685,309 (GRCm39) |
I151T |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,216,701 (GRCm39) |
S24P |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,650,326 (GRCm39) |
D886G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAATTCATTCACTCATAAACCTGTCTT -3'
(R):5'- ACTTGAAGAATGGAGCCGGG -3'
Sequencing Primer
(F):5'- aaaaagctgaggcaggag -3'
(R):5'- AGGCCAGCCTAGTTTACATTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation