Incidental Mutation 'IGL01090:Dhx34'
ID 51501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx34
Ensembl Gene ENSMUSG00000006019
Gene Name DEAH (Asp-Glu-Ala-His) box polypeptide 34
Synonyms 1200013B07Rik, Ddx34, 1810012L18Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.397) question?
Stock # IGL01090
Quality Score
Status
Chromosome 7
Chromosomal Location 16197147-16222037 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to T at 16216256 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 329 (P329Q)
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 damaging
Transcript: ENSMUST00000094816
AA Change: P329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: P329Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000118795
AA Change: P329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: P329Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000119102
AA Change: P329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: P329Q

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000121123
AA Change: P329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: P329Q

DomainStartEndE-ValueType
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: ENSMUST00000133518
Predicted Effect probably damaging
Transcript: ENSMUST00000163968
AA Change: P329Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: P329Q

DomainStartEndE-ValueType
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik T C 6: 91,919,118 S316P possibly damaging Het
Actn1 A T 12: 80,199,072 probably null Het
Agbl3 T C 6: 34,799,887 Y443H probably benign Het
Akap13 T A 7: 75,666,531 D578E probably benign Het
Aldoa A T 7: 126,796,035 H292Q probably benign Het
Als2 T C 1: 59,215,616 K194R possibly damaging Het
Bivm C A 1: 44,129,291 H244N probably damaging Het
Cabp5 G A 7: 13,405,487 E146K probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Clcn4 A G 7: 7,294,036 V129A probably benign Het
Clec4g A G 8: 3,719,482 S54P probably damaging Het
Crim1 G T 17: 78,347,229 V645L probably damaging Het
Csta1 T C 16: 36,125,051 T31A probably damaging Het
D930048N14Rik T C 11: 51,653,783 probably benign Het
Dusp16 T C 6: 134,725,949 N193S probably benign Het
Fbn1 A G 2: 125,394,776 probably benign Het
Fbxo46 A G 7: 19,136,803 Y449C probably damaging Het
Fmo4 C A 1: 162,809,785 probably null Het
Foxi3 C A 6: 70,960,745 N320K probably damaging Het
Gm9964 A G 11: 79,296,384 L79P unknown Het
Gpr161 T C 1: 165,306,580 I137T probably damaging Het
Herc1 C T 9: 66,469,175 Q3426* probably null Het
Hps5 C T 7: 46,788,327 R108H probably benign Het
Itch T A 2: 155,206,336 V540E probably damaging Het
L3mbtl1 C A 2: 162,966,005 P520H probably damaging Het
Mvp A G 7: 126,989,687 V636A probably benign Het
Odf4 A G 11: 68,921,952 probably benign Het
Olfr830 A G 9: 18,876,242 K305R probably benign Het
Pld1 T C 3: 28,088,667 S675P probably benign Het
Plod3 A G 5: 136,990,236 D325G probably benign Het
Prss12 T C 3: 123,482,739 V339A possibly damaging Het
Ptpn13 T A 5: 103,541,314 L991Q probably null Het
Ptpn3 T A 4: 57,240,833 I261F probably damaging Het
Rab3gap1 T C 1: 127,930,387 probably benign Het
Rasa4 A G 5: 136,101,993 R373G possibly damaging Het
Rmi1 T C 13: 58,409,394 S486P probably damaging Het
Slc25a23 A G 17: 57,047,233 I139T probably benign Het
Sspo T A 6: 48,490,125 S4017T probably benign Het
Tcaf1 C A 6: 42,686,622 C108F probably benign Het
Tnc T C 4: 64,000,080 Q1198R probably damaging Het
Tnni3k G T 3: 154,939,683 Q522K possibly damaging Het
Trio T A 15: 27,773,007 E713V probably damaging Het
Ugt2b34 C A 5: 86,893,820 V338F probably damaging Het
Usp40 T A 1: 87,962,465 M892L probably benign Het
Usp54 A T 14: 20,586,157 probably benign Het
Vmn2r53 T C 7: 12,600,908 E275G possibly damaging Het
Vmn2r87 A G 10: 130,497,378 M1T probably null Het
Wdr66 A C 5: 123,279,989 probably benign Het
Wdr83os A T 8: 85,081,847 D76V probably damaging Het
Other mutations in Dhx34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00950:Dhx34 APN 7 16199826 missense probably damaging 1.00
IGL01397:Dhx34 APN 7 16210543 missense probably damaging 1.00
IGL01637:Dhx34 APN 7 16205473 missense probably damaging 1.00
IGL01684:Dhx34 APN 7 16203279 missense probably damaging 1.00
IGL02147:Dhx34 APN 7 16204003 missense probably benign 0.01
IGL02223:Dhx34 APN 7 16198659 missense probably benign 0.10
R0255:Dhx34 UTSW 7 16205992 missense probably benign 0.32
R0514:Dhx34 UTSW 7 16210537 missense probably benign 0.02
R0919:Dhx34 UTSW 7 16201958 missense probably damaging 0.99
R1075:Dhx34 UTSW 7 16218349 missense probably benign 0.06
R1077:Dhx34 UTSW 7 16218368 missense probably damaging 0.97
R4197:Dhx34 UTSW 7 16203726 missense probably damaging 1.00
R4721:Dhx34 UTSW 7 16197382 missense possibly damaging 0.83
R4856:Dhx34 UTSW 7 16215442 missense possibly damaging 0.94
R4868:Dhx34 UTSW 7 16199802 missense probably benign 0.10
R5134:Dhx34 UTSW 7 16218250 missense possibly damaging 0.57
R5180:Dhx34 UTSW 7 16205480 nonsense probably null
R5560:Dhx34 UTSW 7 16218541 missense probably benign 0.34
R5588:Dhx34 UTSW 7 16198900 missense probably damaging 0.99
R6981:Dhx34 UTSW 7 16215330 missense possibly damaging 0.87
R6994:Dhx34 UTSW 7 16203874 missense probably benign 0.04
R7226:Dhx34 UTSW 7 16198876 missense probably damaging 1.00
R7262:Dhx34 UTSW 7 16203698 missense probably benign 0.01
R7288:Dhx34 UTSW 7 16215436 missense probably benign 0.08
R7381:Dhx34 UTSW 7 16215448 missense probably benign 0.00
R7469:Dhx34 UTSW 7 16216439 missense probably benign 0.00
R7709:Dhx34 UTSW 7 16212864 missense possibly damaging 0.55
R7862:Dhx34 UTSW 7 16210523 missense probably damaging 0.98
R8495:Dhx34 UTSW 7 16218547 missense probably benign 0.01
R8885:Dhx34 UTSW 7 16216451 missense probably damaging 1.00
R9246:Dhx34 UTSW 7 16203237 missense probably damaging 1.00
X0020:Dhx34 UTSW 7 16205992 missense probably benign 0.32
Z1176:Dhx34 UTSW 7 16218644 nonsense probably null
Posted On 2013-06-21