Incidental Mutation 'IGL02147:Dhx34'
| ID |
281806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dhx34
|
| Ensembl Gene |
ENSMUSG00000006019 |
| Gene Name |
DExH-box helicase 34 |
| Synonyms |
Ddx34, 1200013B07Rik, 1810012L18Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.419)
|
| Stock # |
IGL02147
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
15931145-15956005 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15937928 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 724
(H724R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094816]
[ENSMUST00000118795]
[ENSMUST00000119102]
[ENSMUST00000121123]
[ENSMUST00000163968]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094816
AA Change: H724R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: H724R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
DEXDc
|
150 |
343 |
7.73e-28 |
SMART |
|
HELICc
|
400 |
498 |
4.31e-17 |
SMART |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
HA2
|
558 |
648 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
687 |
911 |
2.6e-24 |
PFAM |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1121 |
1144 |
7.89e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118795
AA Change: H724R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: H724R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
DEXDc
|
150 |
343 |
7.73e-28 |
SMART |
|
HELICc
|
400 |
498 |
4.31e-17 |
SMART |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
HA2
|
558 |
648 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
687 |
911 |
7.5e-17 |
PFAM |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1121 |
1144 |
7.89e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119102
AA Change: H724R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: H724R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
DEXDc
|
150 |
343 |
7.73e-28 |
SMART |
|
HELICc
|
400 |
498 |
4.31e-17 |
SMART |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
HA2
|
558 |
648 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
687 |
911 |
7.5e-17 |
PFAM |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1121 |
1144 |
7.89e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121123
AA Change: H724R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: H724R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
DEXDc
|
150 |
343 |
7.73e-28 |
SMART |
|
HELICc
|
400 |
498 |
4.31e-17 |
SMART |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
HA2
|
558 |
648 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
687 |
911 |
7.5e-17 |
PFAM |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1121 |
1144 |
7.89e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128452
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133518
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163968
AA Change: H724R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: H724R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
131 |
N/A |
INTRINSIC |
|
DEXDc
|
150 |
343 |
7.73e-28 |
SMART |
|
HELICc
|
400 |
498 |
4.31e-17 |
SMART |
|
low complexity region
|
542 |
553 |
N/A |
INTRINSIC |
|
HA2
|
558 |
648 |
3.35e-21 |
SMART |
|
Pfam:OB_NTP_bind
|
687 |
911 |
6.4e-18 |
PFAM |
|
low complexity region
|
953 |
971 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
1121 |
1144 |
7.89e0 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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 DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021P04Rik |
T |
C |
19: 24,042,327 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
T |
A |
7: 131,027,610 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,064 (GRCm39) |
H75R |
probably benign |
Het |
| Arhgef28 |
T |
A |
13: 98,097,822 (GRCm39) |
I931F |
probably damaging |
Het |
| Cdk5 |
T |
C |
5: 24,625,318 (GRCm39) |
N165D |
probably benign |
Het |
| Col4a2 |
A |
T |
8: 11,458,140 (GRCm39) |
Y272F |
probably benign |
Het |
| Csde1 |
T |
A |
3: 102,947,250 (GRCm39) |
D67E |
probably damaging |
Het |
| Dhx57 |
T |
C |
17: 80,567,752 (GRCm39) |
D777G |
possibly damaging |
Het |
| Fat3 |
A |
C |
9: 15,907,281 (GRCm39) |
V2907G |
probably damaging |
Het |
| Fst |
T |
C |
13: 114,590,896 (GRCm39) |
Y290C |
probably damaging |
Het |
| Ighg2b |
A |
T |
12: 113,270,011 (GRCm39) |
*336R |
probably null |
Het |
| Igkv4-92 |
C |
T |
6: 68,732,236 (GRCm39) |
S46N |
probably damaging |
Het |
| Kdm2b |
C |
T |
5: 123,085,898 (GRCm39) |
E238K |
probably damaging |
Het |
| Lgalsl2 |
T |
A |
7: 5,362,732 (GRCm39) |
I121N |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,093,754 (GRCm39) |
M244V |
possibly damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,558,379 (GRCm39) |
F211S |
probably benign |
Het |
| Mib2 |
C |
A |
4: 155,742,144 (GRCm39) |
R209L |
probably benign |
Het |
| Msx3 |
C |
A |
7: 139,628,798 (GRCm39) |
V39L |
possibly damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,672 (GRCm39) |
F129S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 77,635,696 (GRCm39) |
S266G |
probably damaging |
Het |
| Nup160 |
G |
T |
2: 90,534,285 (GRCm39) |
L703F |
probably benign |
Het |
| Or10c1 |
T |
A |
17: 37,521,877 (GRCm39) |
Y289F |
probably damaging |
Het |
| Or5t5 |
A |
G |
2: 86,616,494 (GRCm39) |
N140S |
probably benign |
Het |
| Pcyt1a |
T |
A |
16: 32,280,916 (GRCm39) |
N105K |
probably damaging |
Het |
| Pdhx |
A |
G |
2: 102,860,686 (GRCm39) |
|
probably benign |
Het |
| Qpct |
T |
C |
17: 79,378,145 (GRCm39) |
V105A |
probably damaging |
Het |
| Ros1 |
A |
C |
10: 51,996,991 (GRCm39) |
F1227C |
probably damaging |
Het |
| Rrp12 |
A |
T |
19: 41,874,620 (GRCm39) |
V342E |
probably damaging |
Het |
| Sart3 |
A |
G |
5: 113,901,004 (GRCm39) |
|
probably benign |
Het |
| Slc6a18 |
T |
A |
13: 73,816,281 (GRCm39) |
K366M |
probably damaging |
Het |
| Smarca4 |
A |
G |
9: 21,546,999 (GRCm39) |
N175D |
probably damaging |
Het |
| Sox14 |
T |
C |
9: 99,757,598 (GRCm39) |
K47R |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,153,132 (GRCm39) |
I592F |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,596,900 (GRCm39) |
M3880T |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,896,413 (GRCm39) |
F172S |
probably damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,305,782 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dhx34 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00950:Dhx34
|
APN |
7 |
15,933,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01090:Dhx34
|
APN |
7 |
15,950,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01397:Dhx34
|
APN |
7 |
15,944,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Dhx34
|
APN |
7 |
15,939,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01684:Dhx34
|
APN |
7 |
15,937,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02223:Dhx34
|
APN |
7 |
15,932,584 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0255:Dhx34
|
UTSW |
7 |
15,939,917 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0514:Dhx34
|
UTSW |
7 |
15,944,462 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0919:Dhx34
|
UTSW |
7 |
15,935,883 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1075:Dhx34
|
UTSW |
7 |
15,952,274 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1077:Dhx34
|
UTSW |
7 |
15,952,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4197:Dhx34
|
UTSW |
7 |
15,937,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4721:Dhx34
|
UTSW |
7 |
15,931,307 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4856:Dhx34
|
UTSW |
7 |
15,949,367 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4868:Dhx34
|
UTSW |
7 |
15,933,727 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5134:Dhx34
|
UTSW |
7 |
15,952,175 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5180:Dhx34
|
UTSW |
7 |
15,939,405 (GRCm39) |
nonsense |
probably null |
|
|
R5560:Dhx34
|
UTSW |
7 |
15,952,466 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5588:Dhx34
|
UTSW |
7 |
15,932,825 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6981:Dhx34
|
UTSW |
7 |
15,949,255 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6994:Dhx34
|
UTSW |
7 |
15,937,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7226:Dhx34
|
UTSW |
7 |
15,932,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7262:Dhx34
|
UTSW |
7 |
15,937,623 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7288:Dhx34
|
UTSW |
7 |
15,949,361 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7381:Dhx34
|
UTSW |
7 |
15,949,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7469:Dhx34
|
UTSW |
7 |
15,950,364 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7709:Dhx34
|
UTSW |
7 |
15,946,789 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7862:Dhx34
|
UTSW |
7 |
15,944,448 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8495:Dhx34
|
UTSW |
7 |
15,952,472 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8885:Dhx34
|
UTSW |
7 |
15,950,376 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9246:Dhx34
|
UTSW |
7 |
15,937,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Dhx34
|
UTSW |
7 |
15,939,917 (GRCm39) |
missense |
probably benign |
0.32 |
|
Z1176:Dhx34
|
UTSW |
7 |
15,952,569 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation