Incidental Mutation 'R6456:Dhx40'
| ID |
520204 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6456 (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 86675800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 198
(T198M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114918
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018569]
[ENSMUST00000148263]
|
| AlphaFold |
Q6PE54 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018569
AA Change: T496M
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000018569
Gene: ENSMUSG00000018425
AA Change: T496M
| 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 |
probably damaging
Transcript: ENSMUST00000148263
AA Change: T198M
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114918
Gene: ENSMUSG00000018425
AA Change: T198M
| 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: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
| Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
| Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
| Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
| Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
| Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
| H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
| Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
| Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
| Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
| Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
| Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
| Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
| Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
| Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
| Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAGGCACAGAGTGACAG -3'
(R):5'- CCACAATGGTTTTCTTTAAATGGAAT -3'
Sequencing Primer
(F):5'- ATGCACCAAGGTATGTGTCC -3'
(R):5'- CCCAGATTTGAAAGGCCT -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation