Incidental Mutation 'R5250:Dhx38'
| ID |
398952 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhx38
|
| Ensembl Gene |
ENSMUSG00000037993 |
| Gene Name |
DEAH-box helicase 38 |
| Synonyms |
Ddx38, 5730550P09Rik, Prp16 |
| MMRRC Submission |
042821-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5250 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
110274643-110292493 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 110283152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 555
(V555D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042601]
|
| AlphaFold |
Q80X98 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042601
AA Change: V555D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000047865
Gene: ENSMUSG00000037993
AA Change: V555D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:DEXDc
|
3 |
146 |
2e-46 |
BLAST |
|
low complexity region
|
147 |
204 |
N/A |
INTRINSIC |
|
Blast:DEXDc
|
205 |
444 |
1e-105 |
BLAST |
|
low complexity region
|
511 |
525 |
N/A |
INTRINSIC |
|
DEXDc
|
531 |
715 |
6.88e-34 |
SMART |
|
HELICc
|
759 |
862 |
1.11e-19 |
SMART |
|
HA2
|
923 |
1013 |
3.22e-32 |
SMART |
|
low complexity region
|
1163 |
1194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212667
|
| Meta Mutation Damage Score |
0.9683 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (60/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD/H box family of splicing factors. This protein resembles yeast Prp16 more closely than other DEAD/H family members. It is an ATPase and essential for the catalytic step II in pre-mRNA splicing process. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
| Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
| Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
| Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
| Dixdc1 |
T |
G |
9: 50,595,035 (GRCm39) |
E230A |
possibly damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
| Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
| Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
| Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
| Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
| Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
| Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
| Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
| Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
| Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
probably benign |
Het |
|
| Other mutations in Dhx38 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00508:Dhx38
|
APN |
8 |
110,283,566 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00821:Dhx38
|
APN |
8 |
110,282,286 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00910:Dhx38
|
APN |
8 |
110,285,666 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01011:Dhx38
|
APN |
8 |
110,289,323 (GRCm39) |
missense |
probably benign |
|
|
IGL01401:Dhx38
|
APN |
8 |
110,278,746 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02133:Dhx38
|
APN |
8 |
110,284,873 (GRCm39) |
nonsense |
probably null |
|
|
IGL02529:Dhx38
|
APN |
8 |
110,285,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02652:Dhx38
|
APN |
8 |
110,282,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03241:Dhx38
|
APN |
8 |
110,289,288 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL03378:Dhx38
|
APN |
8 |
110,285,722 (GRCm39) |
splice site |
probably null |
|
|
R0358:Dhx38
|
UTSW |
8 |
110,279,094 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0375:Dhx38
|
UTSW |
8 |
110,281,813 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0437:Dhx38
|
UTSW |
8 |
110,285,261 (GRCm39) |
splice site |
probably benign |
|
|
R0481:Dhx38
|
UTSW |
8 |
110,282,848 (GRCm39) |
splice site |
probably benign |
|
|
R0492:Dhx38
|
UTSW |
8 |
110,288,576 (GRCm39) |
splice site |
probably benign |
|
|
R0528:Dhx38
|
UTSW |
8 |
110,289,293 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0607:Dhx38
|
UTSW |
8 |
110,285,575 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1638:Dhx38
|
UTSW |
8 |
110,280,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Dhx38
|
UTSW |
8 |
110,283,501 (GRCm39) |
splice site |
probably benign |
|
|
R2056:Dhx38
|
UTSW |
8 |
110,289,352 (GRCm39) |
unclassified |
probably benign |
|
|
R2096:Dhx38
|
UTSW |
8 |
110,280,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2152:Dhx38
|
UTSW |
8 |
110,287,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2154:Dhx38
|
UTSW |
8 |
110,287,306 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2382:Dhx38
|
UTSW |
8 |
110,282,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4367:Dhx38
|
UTSW |
8 |
110,279,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Dhx38
|
UTSW |
8 |
110,279,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4369:Dhx38
|
UTSW |
8 |
110,279,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5354:Dhx38
|
UTSW |
8 |
110,282,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5668:Dhx38
|
UTSW |
8 |
110,280,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5777:Dhx38
|
UTSW |
8 |
110,283,534 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5784:Dhx38
|
UTSW |
8 |
110,286,245 (GRCm39) |
nonsense |
probably null |
|
|
R6799:Dhx38
|
UTSW |
8 |
110,279,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6915:Dhx38
|
UTSW |
8 |
110,286,231 (GRCm39) |
missense |
probably benign |
0.15 |
|
R6932:Dhx38
|
UTSW |
8 |
110,279,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7042:Dhx38
|
UTSW |
8 |
110,283,617 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7248:Dhx38
|
UTSW |
8 |
110,285,559 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7394:Dhx38
|
UTSW |
8 |
110,283,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7513:Dhx38
|
UTSW |
8 |
110,287,221 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7569:Dhx38
|
UTSW |
8 |
110,287,327 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8003:Dhx38
|
UTSW |
8 |
110,282,772 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8071:Dhx38
|
UTSW |
8 |
110,285,333 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8537:Dhx38
|
UTSW |
8 |
110,280,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8852:Dhx38
|
UTSW |
8 |
110,289,361 (GRCm39) |
nonsense |
probably null |
|
|
R8860:Dhx38
|
UTSW |
8 |
110,289,361 (GRCm39) |
nonsense |
probably null |
|
|
R8937:Dhx38
|
UTSW |
8 |
110,283,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9099:Dhx38
|
UTSW |
8 |
110,282,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Dhx38
|
UTSW |
8 |
110,282,717 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCAGCACAAATGGCAGAAG -3'
(R):5'- CTGGTTTCTGGTGAACCCTC -3'
Sequencing Primer
(F):5'- GCTACATGGCTCAGACCTC -3'
(R):5'- TGAACCCTCTGGCCATGAATG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation