Incidental Mutation 'IGL02899:Dhx35'
ID 363517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx35
Ensembl Gene ENSMUSG00000027655
Gene Name DEAH-box helicase 35
Synonyms 1200009D07Rik, Ddx35
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02899
Quality Score
Chromosome 2
Chromosomal Location 158636727-158700134 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 158643370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 39 (Y39C)
Ref Sequence ENSEMBL: ENSMUSP00000119497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029186] [ENSMUST00000109478] [ENSMUST00000156893]
AlphaFold A2ACQ1
Predicted Effect probably damaging
Transcript: ENSMUST00000029186
AA Change: Y39C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000029186
Gene: ENSMUSG00000027655
AA Change: Y39C

DEXDc 55 248 1.17e-18 SMART
HELICc 299 398 8.76e-18 SMART
HA2 458 549 1.49e-27 SMART
Pfam:OB_NTP_bind 628 660 2.7e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109478
AA Change: Y39C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000105104
Gene: ENSMUSG00000027655
AA Change: Y39C

DEXDc 55 248 1.17e-18 SMART
HELICc 299 398 8.76e-18 SMART
HA2 458 549 1.49e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145692
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148359
Predicted Effect probably damaging
Transcript: ENSMUST00000156893
AA Change: Y39C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119497
Gene: ENSMUSG00000027655
AA Change: Y39C

PDB:3LLM|B 7 115 1e-10 PDB
Blast:DEXDc 55 119 5e-37 BLAST
SCOP:d1jpna2 63 115 3e-10 SMART
PDB:3KX2|A 116 204 1e-10 PDB
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 the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgef2 A G 2: 166,710,971 (GRCm39) probably benign Het
Btbd7 A G 12: 102,803,921 (GRCm39) L373P probably damaging Het
Capn3 A G 2: 120,322,382 (GRCm39) N414S possibly damaging Het
Ccdc186 A T 19: 56,781,920 (GRCm39) I753N probably benign Het
Ccser2 G A 14: 36,662,716 (GRCm39) T156I probably benign Het
Celsr1 A G 15: 85,915,927 (GRCm39) M682T probably damaging Het
Cep97 C A 16: 55,738,903 (GRCm39) S267I probably damaging Het
Dscam A T 16: 96,510,447 (GRCm39) D937E probably damaging Het
Elmod2 A G 8: 84,043,562 (GRCm39) Y202H probably damaging Het
Fyco1 T C 9: 123,659,396 (GRCm39) N260S possibly damaging Het
Gm5591 A G 7: 38,218,842 (GRCm39) L677P probably damaging Het
Gmppa A G 1: 75,418,474 (GRCm39) probably null Het
Hltf C T 3: 20,153,981 (GRCm39) T639I probably damaging Het
Inhca C A 9: 103,154,773 (GRCm39) V173L probably damaging Het
Kpnb1 T C 11: 97,066,612 (GRCm39) Y321C probably damaging Het
Lgr4 G A 2: 109,748,598 (GRCm39) G45R probably damaging Het
Ltn1 T C 16: 87,179,547 (GRCm39) D1538G probably benign Het
Maf1 T A 15: 76,237,220 (GRCm39) probably benign Het
Morn5 T C 2: 35,945,049 (GRCm39) F91S probably damaging Het
Ncan C T 8: 70,567,698 (GRCm39) R138H possibly damaging Het
Or10ak7 A T 4: 118,791,859 (GRCm39) M62K probably damaging Het
Or5ac21 G T 16: 59,123,649 (GRCm39) L44F probably damaging Het
Parg T C 14: 31,960,531 (GRCm39) L82S probably damaging Het
Ppp2r2b A T 18: 42,778,874 (GRCm39) H417Q probably damaging Het
Rb1cc1 T C 1: 6,334,807 (GRCm39) L98P probably damaging Het
Ryr1 C A 7: 28,748,220 (GRCm39) V3752L possibly damaging Het
Slc25a12 A G 2: 71,109,979 (GRCm39) L489P probably damaging Het
Slc38a8 C T 8: 120,212,282 (GRCm39) V354M probably benign Het
Slf2 A G 19: 44,930,459 (GRCm39) E512G probably benign Het
Tarbp1 A G 8: 127,180,583 (GRCm39) M597T probably damaging Het
Tgfb3 G A 12: 86,116,550 (GRCm39) R163C probably damaging Het
Tmco5b A G 2: 113,127,265 (GRCm39) M279V probably benign Het
Ttll9 G A 2: 152,844,871 (GRCm39) G413D probably damaging Het
Tut1 A G 19: 8,939,751 (GRCm39) D245G probably damaging Het
Usf3 T A 16: 44,041,589 (GRCm39) V2023E probably damaging Het
Vps33a C T 5: 123,669,239 (GRCm39) G554D probably damaging Het
Zfp27 C A 7: 29,595,680 (GRCm39) R95M possibly damaging Het
Other mutations in Dhx35
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Dhx35 APN 2 158,669,836 (GRCm39) missense probably damaging 1.00
IGL01942:Dhx35 APN 2 158,673,784 (GRCm39) missense probably damaging 1.00
IGL02927:Dhx35 APN 2 158,662,336 (GRCm39) missense probably damaging 1.00
IGL03224:Dhx35 APN 2 158,699,052 (GRCm39) utr 3 prime probably benign
R0112:Dhx35 UTSW 2 158,682,540 (GRCm39) missense probably damaging 0.99
R0200:Dhx35 UTSW 2 158,671,543 (GRCm39) missense probably benign
R0609:Dhx35 UTSW 2 158,659,335 (GRCm39) missense possibly damaging 0.62
R0714:Dhx35 UTSW 2 158,686,103 (GRCm39) missense probably benign
R0884:Dhx35 UTSW 2 158,673,631 (GRCm39) missense probably damaging 0.97
R1775:Dhx35 UTSW 2 158,648,357 (GRCm39) missense probably damaging 1.00
R1912:Dhx35 UTSW 2 158,684,227 (GRCm39) missense probably damaging 0.96
R2136:Dhx35 UTSW 2 158,673,781 (GRCm39) missense probably damaging 1.00
R4094:Dhx35 UTSW 2 158,684,276 (GRCm39) missense probably damaging 1.00
R4364:Dhx35 UTSW 2 158,684,272 (GRCm39) nonsense probably null
R4421:Dhx35 UTSW 2 158,648,321 (GRCm39) missense probably damaging 1.00
R4565:Dhx35 UTSW 2 158,691,455 (GRCm39) missense probably benign 0.01
R5517:Dhx35 UTSW 2 158,676,832 (GRCm39) missense probably damaging 1.00
R5732:Dhx35 UTSW 2 158,673,705 (GRCm39) missense probably damaging 0.99
R5979:Dhx35 UTSW 2 158,684,789 (GRCm39) missense probably benign 0.29
R6054:Dhx35 UTSW 2 158,660,219 (GRCm39) missense probably benign 0.00
R6405:Dhx35 UTSW 2 158,636,839 (GRCm39) missense probably damaging 1.00
R6452:Dhx35 UTSW 2 158,673,607 (GRCm39) missense probably damaging 1.00
R6519:Dhx35 UTSW 2 158,673,630 (GRCm39) missense probably damaging 0.97
R8700:Dhx35 UTSW 2 158,682,552 (GRCm39) missense possibly damaging 0.61
R8894:Dhx35 UTSW 2 158,676,795 (GRCm39) missense possibly damaging 0.77
R8906:Dhx35 UTSW 2 158,648,918 (GRCm39) missense possibly damaging 0.90
R8960:Dhx35 UTSW 2 158,657,393 (GRCm39) missense possibly damaging 0.83
R9349:Dhx35 UTSW 2 158,671,444 (GRCm39) missense possibly damaging 0.94
R9765:Dhx35 UTSW 2 158,671,501 (GRCm39) missense probably benign 0.00
Posted On 2015-12-18