Incidental Mutation 'R4868:Dhx34'
ID 376324
Institutional Source Beutler Lab
Gene Symbol Dhx34
Ensembl Gene ENSMUSG00000006019
Gene Name DExH-box helicase 34
Synonyms Ddx34, 1200013B07Rik, 1810012L18Rik
MMRRC Submission 042478-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R4868 (G1)
Quality Score 128
Status Validated
Chromosome 7
Chromosomal Location 15931145-15956005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15933727 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 955 (D955G)
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: D955G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: D955G

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 benign
Transcript: ENSMUST00000118795
AA Change: D955G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: D955G

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 benign
Transcript: ENSMUST00000119102
AA Change: D955G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: D955G

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 benign
Transcript: ENSMUST00000121123
AA Change: D955G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: D955G

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: ENSMUST00000128452
Predicted Effect probably benign
Transcript: ENSMUST00000163968
AA Change: D955G

PolyPhen 2 Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: D955G

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
Meta Mutation Damage Score 0.0764 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.7%
Validation Efficiency 99% (91/92)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A G 8: 106,436,729 (GRCm39) *299W probably null Het
4933412E24Rik G A 15: 59,887,817 (GRCm39) L208F possibly damaging Het
Abca8b G A 11: 109,865,338 (GRCm39) A373V probably benign Het
Actn3 A T 19: 4,914,482 (GRCm39) W549R probably benign Het
Adamts4 C T 1: 171,080,000 (GRCm39) probably benign Het
Adcy4 T C 14: 56,011,179 (GRCm39) I615V probably benign Het
Akap1 A G 11: 88,735,379 (GRCm39) S428P possibly damaging Het
Akap13 A T 7: 75,393,252 (GRCm39) R2476W probably damaging Het
Alx3 A G 3: 107,507,943 (GRCm39) S151G possibly damaging Het
Aoah T A 13: 21,099,151 (GRCm39) Y243* probably null Het
Asap1 A G 15: 63,966,030 (GRCm39) V1025A probably benign Het
Atp8b1 A T 18: 64,684,937 (GRCm39) I728N probably damaging Het
Baz2b C A 2: 59,755,226 (GRCm39) V1001L possibly damaging Het
Bmpr2 T A 1: 59,909,615 (GRCm39) S1030T probably benign Het
Cacna2d3 A T 14: 28,678,743 (GRCm39) probably null Het
Casp3 A T 8: 47,087,314 (GRCm39) N87I probably benign Het
Ccdc171 T A 4: 83,612,569 (GRCm39) L995Q probably damaging Het
Ccdc80 T A 16: 44,924,776 (GRCm39) Y637N probably damaging Het
Ccr4 A G 9: 114,321,901 (GRCm39) F55L probably benign Het
Cmah T A 13: 24,648,247 (GRCm39) V494E probably damaging Het
Cnot6l A G 5: 96,230,882 (GRCm39) Y362H probably damaging Het
Coq6 T C 12: 84,417,726 (GRCm39) V222A probably damaging Het
Ctdspl2 C A 2: 121,823,879 (GRCm39) T240N possibly damaging Het
D430041D05Rik T C 2: 104,085,754 (GRCm39) T248A possibly damaging Het
Dctn6 A T 8: 34,559,230 (GRCm39) probably benign Het
Dnaaf5 A G 5: 139,155,941 (GRCm39) M541V probably benign Het
Dnah17 A T 11: 117,999,038 (GRCm39) S912T probably benign Het
Dnah2 A T 11: 69,354,474 (GRCm39) V2248E probably damaging Het
Dysf T C 6: 84,156,675 (GRCm39) W1502R probably damaging Het
Dzip1 A T 14: 119,114,626 (GRCm39) V843E probably damaging Het
Esp23 G T 17: 39,384,915 (GRCm39) T27K probably benign Het
Esp3 A T 17: 40,944,420 (GRCm39) M21L possibly damaging Het
Fam43b T A 4: 138,123,108 (GRCm39) T71S probably benign Het
Fpgs G A 2: 32,582,673 (GRCm39) R63C probably damaging Het
H2-M11 G T 17: 36,859,811 (GRCm39) W268L probably damaging Het
Inpp5b T C 4: 124,645,203 (GRCm39) S210P probably damaging Het
Itsn1 T A 16: 91,582,205 (GRCm39) S51T probably damaging Het
Kctd2 G A 11: 115,320,205 (GRCm39) V246I probably damaging Het
Krt75 C T 15: 101,476,556 (GRCm39) G403E probably damaging Het
Lamp3 T A 16: 19,520,040 (GRCm39) T48S probably benign Het
Lyzl4 C A 9: 121,412,075 (GRCm39) V114L probably damaging Het
Maml3 C A 3: 52,011,345 (GRCm39) E74* probably null Het
Map2k7 G A 8: 4,297,751 (GRCm39) probably benign Het
Mapk8ip3 A G 17: 25,120,389 (GRCm39) V883A probably benign Het
Mbtps1 C T 8: 120,235,667 (GRCm39) V1004I probably benign Het
Metap1 G T 3: 138,188,850 (GRCm39) H48Q probably damaging Het
Mical2 T A 7: 111,917,831 (GRCm39) V396E probably damaging Het
Mks1 T A 11: 87,744,549 (GRCm39) probably benign Het
Ndst1 T C 18: 60,828,548 (GRCm39) T669A probably benign Het
Obox3 T C 7: 15,361,235 (GRCm39) K10R probably damaging Het
Opn3 T C 1: 175,491,127 (GRCm39) Y302C probably damaging Het
Or4f62 T A 2: 111,986,916 (GRCm39) S207T probably damaging Het
Or6b6 C T 7: 106,570,974 (GRCm39) M192I probably benign Het
Or9g8 T G 2: 85,606,970 (GRCm39) V14G possibly damaging Het
Pdzph1 A T 17: 59,281,751 (GRCm39) V177D probably benign Het
Pex5l T A 3: 33,006,639 (GRCm39) I577F probably damaging Het
Pmpcb T A 5: 21,953,851 (GRCm39) Y366* probably null Het
Prr14l A T 5: 32,987,281 (GRCm39) M738K probably benign Het
Prx T C 7: 27,217,004 (GRCm39) S641P probably benign Het
Ptchd3 A G 11: 121,721,883 (GRCm39) Y252C possibly damaging Het
Reg3a A G 6: 78,358,883 (GRCm39) E27G probably damaging Het
Ripor2 A G 13: 24,878,124 (GRCm39) T300A possibly damaging Het
Sdf4 T A 4: 156,093,642 (GRCm39) S259T probably damaging Het
Sike1 A G 3: 102,904,730 (GRCm39) probably null Het
Sis T G 3: 72,850,881 (GRCm39) I606L probably benign Het
Slc30a9 T C 5: 67,482,026 (GRCm39) I94T probably benign Het
Slc5a4a T C 10: 76,014,065 (GRCm39) I424T probably damaging Het
Spx C T 6: 142,362,116 (GRCm39) R72* probably null Het
St7 C A 6: 17,819,265 (GRCm39) N56K probably damaging Het
Tcte2 C A 17: 13,948,270 (GRCm39) G3V probably damaging Het
Tent5b A G 4: 133,213,393 (GRCm39) probably null Het
Tgfb3 T C 12: 86,108,955 (GRCm39) D258G probably benign Het
Timeless G T 10: 128,083,230 (GRCm39) G659V probably benign Het
Tnn T C 1: 159,958,443 (GRCm39) R467G possibly damaging Het
Tor1b T C 2: 30,846,589 (GRCm39) probably null Het
Trank1 T A 9: 111,194,709 (GRCm39) L911Q probably damaging Het
Ttll2 C T 17: 7,618,998 (GRCm39) V310I probably benign Het
Ttyh3 A T 5: 140,615,221 (GRCm39) I389N probably damaging Het
Tut4 T C 4: 108,406,417 (GRCm39) probably benign Het
Ube3b T C 5: 114,536,488 (GRCm39) V216A probably benign Het
Vezf1 T A 11: 87,965,520 (GRCm39) V254E probably damaging Het
Vmn1r122 T C 7: 20,867,227 (GRCm39) E276G probably benign Het
Vmn1r167 T A 7: 23,204,161 (GRCm39) N285I probably benign Het
Vmn2r45 T A 7: 8,484,480 (GRCm39) I442F probably benign Het
Vwa8 C A 14: 79,420,522 (GRCm39) A1741E probably damaging Het
Wdr20 T A 12: 110,704,668 (GRCm39) V69E probably damaging Het
Xkr4 T G 1: 3,287,074 (GRCm39) Q372P probably damaging Het
Other mutations in Dhx34
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02147:Dhx34 APN 7 15,937,928 (GRCm39) missense probably benign 0.01
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
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
Predicted Primers PCR Primer
(F):5'- ACCTGTCATCTGCTCAGTGC -3'
(R):5'- TGAGCCGCACAGCTTTTCTC -3'

Sequencing Primer
(F):5'- ATGTGACCTCAGGTACCACTG -3'
(R):5'- GCACAGCTTTTCTCTTGCAG -3'
Posted On 2016-03-17