Incidental Mutation 'IGL02986:Dhx37'
ID406718
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx37
Ensembl Gene ENSMUSG00000029480
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 37
SynonymsLOC381671, LOC208144
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.457) question?
Stock #IGL02986
Quality Score
Status
Chromosome5
Chromosomal Location125413858-125434121 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 125419315 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 721 (P721L)
Ref Sequence ENSEMBL: ENSMUSP00000131734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169485]
Predicted Effect probably damaging
Transcript: ENSMUST00000169485
AA Change: P721L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: P721L

DomainStartEndE-ValueType
low complexity region 51 66 N/A INTRINSIC
low complexity region 156 173 N/A INTRINSIC
low complexity region 199 231 N/A INTRINSIC
DEXDc 246 438 3.55e-27 SMART
AAA 263 463 9.3e-3 SMART
HELICc 554 669 1.56e-14 SMART
Blast:DEXDc 678 717 1e-10 BLAST
HA2 729 852 3.32e-25 SMART
Pfam:OB_NTP_bind 886 1004 1.1e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000196371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196444
Predicted Effect probably benign
Transcript: ENSMUST00000198746
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DEAD box protein. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,178,854 V264A possibly damaging Het
Akr1c6 G T 13: 4,436,415 V74L probably benign Het
Atp10a T G 7: 58,828,721 V1504G probably benign Het
Ccng1 A G 11: 40,750,863 probably benign Het
Celsr3 A T 9: 108,841,255 probably null Het
Coro1b T C 19: 4,149,471 V43A possibly damaging Het
Dab1 A G 4: 104,479,221 T5A probably benign Het
Dennd5a C T 7: 109,935,524 A47T probably benign Het
Dgkb A G 12: 38,100,400 T69A possibly damaging Het
Efr3b T C 12: 3,966,495 N641D probably benign Het
Espnl A T 1: 91,344,850 Q600L probably benign Het
Esyt1 A G 10: 128,516,757 V693A probably damaging Het
Fscn2 A G 11: 120,367,350 D366G possibly damaging Het
Gcsam C A 16: 45,620,003 F136L probably benign Het
Gm10643 A T 8: 84,064,258 probably benign Het
Habp2 A T 19: 56,311,192 D174V probably benign Het
Hgfac T C 5: 35,043,863 V210A probably benign Het
Hipk3 T C 2: 104,433,741 D804G probably damaging Het
L3mbtl1 T C 2: 162,970,305 W757R probably damaging Het
Lrrfip2 A G 9: 111,161,393 probably null Het
Ly75 T C 2: 60,308,191 D1444G probably damaging Het
Mars A G 10: 127,297,569 V765A probably benign Het
Med1 A G 11: 98,156,260 probably benign Het
Msln G A 17: 25,752,933 probably benign Het
Nup188 T A 2: 30,307,633 probably null Het
Olfr406 T G 11: 74,270,102 F238V possibly damaging Het
Olfr866 A T 9: 20,027,711 F76I probably benign Het
Otop2 T A 11: 115,329,567 M411K probably benign Het
Picalm A G 7: 90,207,585 I649M probably benign Het
Plekha8 T C 6: 54,629,866 L382P probably damaging Het
Pspn A G 17: 56,999,853 probably benign Het
Rnf215 A G 11: 4,139,793 T269A probably damaging Het
Rps6kc1 A T 1: 190,834,061 L329Q probably damaging Het
Srms T A 2: 181,212,497 R92S possibly damaging Het
Ssxb10 C A X: 8,335,606 S157* probably null Het
Tfap2c T C 2: 172,557,251 S448P probably damaging Het
Thsd7b A G 1: 129,915,615 N855D probably benign Het
Timeless A C 10: 128,249,760 D887A possibly damaging Het
Tyms T C 5: 30,061,999 Y169C probably damaging Het
Unc45b T A 11: 82,917,179 C207S probably damaging Het
Utp20 A G 10: 88,775,285 F1390S probably damaging Het
Vmn2r53 A T 7: 12,581,466 probably benign Het
Zfp369 A T 13: 65,280,281 D18V probably damaging Het
Other mutations in Dhx37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Dhx37 APN 5 125419088 missense possibly damaging 0.84
IGL02010:Dhx37 APN 5 125418713 missense possibly damaging 0.58
IGL02412:Dhx37 APN 5 125431628 missense probably damaging 0.98
IGL02484:Dhx37 APN 5 125419337 missense possibly damaging 0.89
FR4304:Dhx37 UTSW 5 125427530 unclassified probably benign
R0010:Dhx37 UTSW 5 125431616 missense probably benign 0.02
R0019:Dhx37 UTSW 5 125430034 missense probably benign 0.36
R0485:Dhx37 UTSW 5 125422231 missense probably benign 0.00
R0959:Dhx37 UTSW 5 125423432 missense probably benign
R1101:Dhx37 UTSW 5 125415152 missense probably damaging 1.00
R1132:Dhx37 UTSW 5 125421039 missense probably damaging 0.96
R1309:Dhx37 UTSW 5 125417438 nonsense probably null
R1777:Dhx37 UTSW 5 125429931 missense probably benign
R2001:Dhx37 UTSW 5 125427464 missense probably damaging 1.00
R2116:Dhx37 UTSW 5 125421102 missense probably damaging 0.98
R3826:Dhx37 UTSW 5 125431613 missense probably benign 0.04
R3829:Dhx37 UTSW 5 125431613 missense probably benign 0.04
R3830:Dhx37 UTSW 5 125431613 missense probably benign 0.04
R4007:Dhx37 UTSW 5 125424931 splice site probably benign
R5058:Dhx37 UTSW 5 125422231 missense probably benign 0.00
R5158:Dhx37 UTSW 5 125415152 missense probably damaging 1.00
R5436:Dhx37 UTSW 5 125429803 missense probably benign
R5789:Dhx37 UTSW 5 125421039 missense possibly damaging 0.55
R5834:Dhx37 UTSW 5 125425730 missense probably damaging 1.00
R6066:Dhx37 UTSW 5 125424666 missense probably benign 0.18
R6490:Dhx37 UTSW 5 125419132 missense probably benign 0.00
R6967:Dhx37 UTSW 5 125422167 missense probably benign 0.07
R7101:Dhx37 UTSW 5 125424942 nonsense probably null
Z1088:Dhx37 UTSW 5 125416591 missense possibly damaging 0.72
Posted On2016-08-02