Incidental Mutation 'R7262:Dhx34'
ID 564686
Institutional Source Beutler Lab
Gene Symbol Dhx34
Ensembl Gene ENSMUSG00000006019
Gene Name DExH-box helicase 34
Synonyms Ddx34, 1200013B07Rik, 1810012L18Rik
MMRRC Submission 045353-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.409) question?
Stock # R7262 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 15931145-15956005 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15937623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 786 (A786V)
Ref Sequence ENSEMBL: ENSMUSP00000092410 (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: A786V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000092410
Gene: ENSMUSG00000006019
AA Change: A786V

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: A786V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000112865
Gene: ENSMUSG00000006019
AA Change: A786V

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: A786V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113393
Gene: ENSMUSG00000006019
AA Change: A786V

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: A786V

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000113673
Gene: ENSMUSG00000006019
AA Change: A786V

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: ENSMUST00000163968
AA Change: A786V

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126915
Gene: ENSMUSG00000006019
AA Change: A786V

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 0.1265 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (53/53)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,946,137 (GRCm39) probably null Het
Adh5 C A 3: 138,151,133 (GRCm39) A32D possibly damaging Het
Ap1m2 A G 9: 21,213,762 (GRCm39) I295T possibly damaging Het
B230104I21Rik T C 4: 154,434,091 (GRCm39) S92P unknown Het
Carnmt1 A T 19: 18,655,228 (GRCm39) N127I probably benign Het
Ccdc42 A G 11: 68,485,399 (GRCm39) T106A probably damaging Het
Cdcp1 T C 9: 123,002,680 (GRCm39) E797G probably damaging Het
Cep112 T A 11: 108,555,467 (GRCm39) V821D probably damaging Het
Cpvl A T 6: 53,909,500 (GRCm39) V212D probably damaging Het
Cttnbp2nl A T 3: 104,940,062 (GRCm39) N2K probably damaging Het
Cyp2c69 T C 19: 39,875,176 (GRCm39) probably benign Het
Cyp2u1 T C 3: 131,091,605 (GRCm39) D305G probably damaging Het
Dab2ip A G 2: 35,512,298 (GRCm39) probably null Het
Ddx55 T C 5: 124,704,919 (GRCm39) L396P probably benign Het
Efcab3 G A 11: 104,745,432 (GRCm39) probably null Het
Ehbp1l1 A T 19: 5,768,474 (GRCm39) L943* probably null Het
Epm2aip1 A G 9: 111,101,728 (GRCm39) T234A probably benign Het
Flot2 T C 11: 77,948,175 (GRCm39) M145T probably damaging Het
Fn3k T C 11: 121,339,741 (GRCm39) F168L probably damaging Het
Gmfb A T 14: 47,052,386 (GRCm39) C87S probably damaging Het
H2-M3 T C 17: 37,582,084 (GRCm39) F180S probably damaging Het
Havcr2 C T 11: 46,360,388 (GRCm39) T205I probably benign Het
Hdac3 C T 18: 38,078,616 (GRCm39) C123Y probably damaging Het
Itpk1 T C 12: 102,641,712 (GRCm39) E37G possibly damaging Het
Jmjd7 A G 2: 119,862,467 (GRCm39) H283R probably benign Het
Kif26b T C 1: 178,745,219 (GRCm39) S1772P possibly damaging Het
Klhl6 T C 16: 19,801,546 (GRCm39) T70A probably damaging Het
Kntc1 C A 5: 123,925,036 (GRCm39) D1116E probably benign Het
Lama4 T A 10: 38,970,930 (GRCm39) H1498Q probably damaging Het
Lamp1 A T 8: 13,217,296 (GRCm39) T102S probably benign Het
Lrp8 A G 4: 107,704,661 (GRCm39) N168D probably benign Het
Ltbp1 G T 17: 75,671,363 (GRCm39) D1515Y probably damaging Het
Obscn A G 11: 59,006,715 (GRCm39) V1149A probably damaging Het
Or10q1 A T 19: 13,726,535 (GRCm39) T22S probably benign Het
Or4f6 A G 2: 111,838,902 (GRCm39) S210P probably damaging Het
Or52ad1 T C 7: 102,995,764 (GRCm39) R124G probably damaging Het
Pak4 C A 7: 28,264,625 (GRCm39) M92I possibly damaging Het
Pam T C 1: 97,782,448 (GRCm39) K157R Het
Pcdh9 A T 14: 93,253,141 (GRCm39) V1174E probably benign Het
Phf8-ps G A 17: 33,285,971 (GRCm39) T277I probably damaging Het
Ppp1r3a T C 6: 14,719,069 (GRCm39) D615G probably benign Het
Senp1 A T 15: 97,964,379 (GRCm39) D278E probably benign Het
Serpinc1 A G 1: 160,817,229 (GRCm39) N108D probably damaging Het
Srl C A 16: 4,315,415 (GRCm39) A76S probably damaging Het
Tbc1d16 C A 11: 119,045,921 (GRCm39) V509L probably benign Het
Tbc1d24 A G 17: 24,426,820 (GRCm39) F357S probably damaging Het
Tcaf3 A G 6: 42,570,735 (GRCm39) L339P probably damaging Het
Tmem232 A T 17: 65,807,112 (GRCm39) I27N probably benign Het
Ubr2 T C 17: 47,311,665 (GRCm39) D62G probably damaging Het
Vcan T G 13: 89,853,280 (GRCm39) D560A possibly damaging Het
Vmn2r80 T A 10: 79,005,579 (GRCm39) N405K probably damaging Het
Wdhd1 A T 14: 47,489,430 (GRCm39) I701K probably benign 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
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
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'- TAGTGTGCAGAGCAACCCAAG -3'
(R):5'- ACAGCGTTGACATCCAGGTG -3'

Sequencing Primer
(F):5'- GACAAAGCCAAGGGTCTTTCTGTC -3'
(R):5'- AGGTGGGACGGCCATGTAC -3'
Posted On 2019-06-26