Incidental Mutation 'R5058:Dhx37'
ID 391012
Institutional Source Beutler Lab
Gene Symbol Dhx37
Ensembl Gene ENSMUSG00000029480
Gene Name DEAH-box helicase 37
Synonyms LOC208144, LOC381671
MMRRC Submission 042648-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.456) question?
Stock # R5058 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 125490922-125511185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 125499295 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Aspartic acid at position 638 (Y638D)
Ref Sequence ENSEMBL: ENSMUSP00000131734 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000169485]
AlphaFold Q6NZL1
Predicted Effect probably benign
Transcript: ENSMUST00000169485
AA Change: Y638D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000131734
Gene: ENSMUSG00000029480
AA Change: Y638D

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 noncoding transcript
Transcript: ENSMUST00000196444
Predicted Effect probably benign
Transcript: ENSMUST00000198746
Meta Mutation Damage Score 0.2229 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.2%
Validation Efficiency 100% (79/79)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,292,625 (GRCm39) Y222C probably damaging Het
Adprs A G 4: 126,212,238 (GRCm39) S94P probably damaging Het
Atp11b A G 3: 35,863,510 (GRCm39) E202G probably benign Het
Cacna1d G T 14: 29,836,201 (GRCm39) S849* probably null Het
Camsap1 T C 2: 25,829,375 (GRCm39) D783G probably benign Het
Cbfa2t2 T A 2: 154,346,665 (GRCm39) I124N probably damaging Het
Ccdc13 A T 9: 121,646,613 (GRCm39) probably benign Het
Cfap44 G A 16: 44,240,567 (GRCm39) probably null Het
Col17a1 C A 19: 47,673,989 (GRCm39) E13* probably null Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Dennd6b A G 15: 89,071,553 (GRCm39) L288P possibly damaging Het
Epb41 G A 4: 131,734,746 (GRCm39) probably benign Het
Esp31 A T 17: 38,955,500 (GRCm39) I48L possibly damaging Het
Fat3 T C 9: 15,908,154 (GRCm39) Q2616R probably damaging Het
Fbxo33 A G 12: 59,265,919 (GRCm39) I116T probably benign Het
Flnb G T 14: 7,924,262 (GRCm38) E1792* probably null Het
Fzd2 G A 11: 102,495,633 (GRCm39) G26R probably damaging Het
Gm11677 T A 11: 111,616,264 (GRCm39) noncoding transcript Het
Gm7137 A T 10: 77,623,905 (GRCm39) probably benign Het
Hnrnpr A G 4: 136,063,648 (GRCm39) T252A possibly damaging Het
Hyal5 T C 6: 24,891,484 (GRCm39) F433L probably damaging Het
Kcnmb4 T A 10: 116,299,833 (GRCm39) probably benign Het
Meltf A G 16: 31,706,421 (GRCm39) probably null Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Muc6 T C 7: 141,230,491 (GRCm39) D1213G probably benign Het
Ncam1 A C 9: 49,709,995 (GRCm39) F12C probably benign Het
Nfxl1 A T 5: 72,713,582 (GRCm39) D120E probably benign Het
Nrg1 T C 8: 32,314,587 (GRCm39) Q142R probably damaging Het
Or10c1 A G 17: 37,522,558 (GRCm39) L62P probably damaging Het
Or1j18 T G 2: 36,625,011 (GRCm39) L226R possibly damaging Het
Or2h15 G A 17: 38,441,432 (GRCm39) S217F probably damaging Het
Or56a4 T C 7: 104,806,355 (GRCm39) N178S probably damaging Het
Or5k16 T C 16: 58,736,435 (GRCm39) T190A probably benign Het
Or8c10 C A 9: 38,279,220 (GRCm39) T116K probably damaging Het
Or8g30 C A 9: 39,229,960 (GRCm39) V317L probably benign Het
Or9s18 C A 13: 65,300,743 (GRCm39) A235D possibly damaging Het
Padi2 G T 4: 140,659,432 (GRCm39) V246L probably benign Het
Pgghg C T 7: 140,522,455 (GRCm39) T63I possibly damaging Het
Pitpnm1 A G 19: 4,162,758 (GRCm39) N1117S probably benign Het
Plch1 G T 3: 63,630,202 (GRCm39) T534K probably damaging Het
Poc1a G T 9: 106,227,012 (GRCm39) probably benign Het
Polr3c T C 3: 96,630,833 (GRCm39) I196V probably benign Het
Prph A T 15: 98,953,113 (GRCm39) probably benign Het
Ptprg C A 14: 12,037,387 (GRCm38) T189K possibly damaging Het
R3hcc1 A T 14: 69,941,463 (GRCm39) I183N probably damaging Het
Rundc1 T C 11: 101,316,363 (GRCm39) L145P probably benign Het
Slc26a3 A G 12: 31,520,964 (GRCm39) K723E possibly damaging Het
Slc38a3 T C 9: 107,536,390 (GRCm39) E2G possibly damaging Het
Slc9a5 G T 8: 106,082,490 (GRCm39) V252L probably benign Het
Smim26 C T 2: 144,437,043 (GRCm39) T64M probably benign Het
Socs4 C T 14: 47,527,589 (GRCm39) R175* probably null Het
Srebf2 T C 15: 82,066,251 (GRCm39) S600P probably damaging Het
Tas2r107 A T 6: 131,636,705 (GRCm39) S115T probably damaging Het
Tenm2 T C 11: 36,097,907 (GRCm39) D447G possibly damaging Het
Thbs2 T A 17: 14,896,591 (GRCm39) D766V probably damaging Het
Tinagl1 A G 4: 130,061,250 (GRCm39) V300A probably benign Het
Tle6 T A 10: 81,430,072 (GRCm39) N332I possibly damaging Het
Tle6 C A 10: 81,431,791 (GRCm39) W151L probably damaging Het
Tnfrsf13c C T 15: 82,108,408 (GRCm39) V36M probably damaging Het
Tns2 T C 15: 102,016,295 (GRCm39) I211T possibly damaging Het
Trp63 A G 16: 25,701,344 (GRCm39) N379D probably damaging Het
Trpc2 T C 7: 101,738,316 (GRCm39) W433R probably damaging Het
Tyw1 T A 5: 130,305,927 (GRCm39) L350Q probably benign Het
Usf3 T C 16: 44,033,070 (GRCm39) L76P probably damaging Het
Vmn2r79 T C 7: 86,651,423 (GRCm39) L274P probably damaging Het
Other mutations in Dhx37
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Dhx37 APN 5 125,496,152 (GRCm39) missense possibly damaging 0.84
IGL02010:Dhx37 APN 5 125,495,777 (GRCm39) missense possibly damaging 0.58
IGL02412:Dhx37 APN 5 125,508,692 (GRCm39) missense probably damaging 0.98
IGL02484:Dhx37 APN 5 125,496,401 (GRCm39) missense possibly damaging 0.89
IGL02986:Dhx37 APN 5 125,496,379 (GRCm39) missense probably damaging 1.00
FR4304:Dhx37 UTSW 5 125,504,594 (GRCm39) unclassified probably benign
R0010:Dhx37 UTSW 5 125,508,680 (GRCm39) missense probably benign 0.02
R0019:Dhx37 UTSW 5 125,507,098 (GRCm39) missense probably benign 0.36
R0485:Dhx37 UTSW 5 125,499,295 (GRCm39) missense probably benign 0.00
R0959:Dhx37 UTSW 5 125,500,496 (GRCm39) missense probably benign
R1101:Dhx37 UTSW 5 125,492,216 (GRCm39) missense probably damaging 1.00
R1132:Dhx37 UTSW 5 125,498,103 (GRCm39) missense probably damaging 0.96
R1309:Dhx37 UTSW 5 125,494,502 (GRCm39) nonsense probably null
R1777:Dhx37 UTSW 5 125,506,995 (GRCm39) missense probably benign
R2001:Dhx37 UTSW 5 125,504,528 (GRCm39) missense probably damaging 1.00
R2116:Dhx37 UTSW 5 125,498,166 (GRCm39) missense probably damaging 0.98
R3826:Dhx37 UTSW 5 125,508,677 (GRCm39) missense probably benign 0.04
R3829:Dhx37 UTSW 5 125,508,677 (GRCm39) missense probably benign 0.04
R3830:Dhx37 UTSW 5 125,508,677 (GRCm39) missense probably benign 0.04
R4007:Dhx37 UTSW 5 125,501,995 (GRCm39) splice site probably benign
R5158:Dhx37 UTSW 5 125,492,216 (GRCm39) missense probably damaging 1.00
R5436:Dhx37 UTSW 5 125,506,867 (GRCm39) missense probably benign
R5789:Dhx37 UTSW 5 125,498,103 (GRCm39) missense possibly damaging 0.55
R5834:Dhx37 UTSW 5 125,502,794 (GRCm39) missense probably damaging 1.00
R6066:Dhx37 UTSW 5 125,501,730 (GRCm39) missense probably benign 0.18
R6490:Dhx37 UTSW 5 125,496,196 (GRCm39) missense probably benign 0.00
R6967:Dhx37 UTSW 5 125,499,231 (GRCm39) missense probably benign 0.07
R7101:Dhx37 UTSW 5 125,502,006 (GRCm39) nonsense probably null
R8036:Dhx37 UTSW 5 125,501,739 (GRCm39) missense probably benign
R9177:Dhx37 UTSW 5 125,507,958 (GRCm39) missense probably benign 0.00
R9294:Dhx37 UTSW 5 125,499,736 (GRCm39) missense probably benign
Z1088:Dhx37 UTSW 5 125,493,655 (GRCm39) missense possibly damaging 0.72
Z1177:Dhx37 UTSW 5 125,502,536 (GRCm39) missense probably benign 0.01
Z1177:Dhx37 UTSW 5 125,502,044 (GRCm39) missense possibly damaging 0.81
Predicted Primers PCR Primer
(F):5'- AGGGGCAACTGCAGTTCTAC -3'
(R):5'- TGGGGTGCTTTTCCATCTAC -3'

Sequencing Primer
(F):5'- CTTCTCAACGCCTGTGATGCAG -3'
(R):5'- CCTATTACAGATGGTTGTGAGCCAC -3'
Posted On 2016-06-06