Incidental Mutation 'IGL01395:Dhx58'
ID 79379
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx58
Ensembl Gene ENSMUSG00000017830
Gene Name DExH-box helicase 58
Synonyms D11Lgp2e, B430001I08Rik, LPG2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.201) question?
Stock # IGL01395
Quality Score
Status
Chromosome 11
Chromosomal Location 100585710-100595097 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 100594752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 48 (G48D)
Ref Sequence ENSEMBL: ENSMUSP00000017974 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]
AlphaFold Q99J87
Predicted Effect probably benign
Transcript: ENSMUST00000006973
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918

DomainStartEndE-ValueType
low complexity region 21 72 N/A INTRINSIC
Pfam:PCAF_N 81 332 1.2e-155 PFAM
low complexity region 398 417 N/A INTRINSIC
Pfam:Acetyltransf_7 538 621 5e-13 PFAM
Pfam:Acetyltransf_1 545 620 3.2e-11 PFAM
low complexity region 659 675 N/A INTRINSIC
BROMO 718 826 6.87e-38 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000017974
AA Change: G48D

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830
AA Change: G48D

DomainStartEndE-ValueType
DEXDc 2 207 2.86e-22 SMART
HELICc 387 475 3.85e-14 SMART
Blast:HELICc 497 543 4e-12 BLAST
Pfam:RIG-I_C-RD 552 667 1.5e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103118
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918

DomainStartEndE-ValueType
low complexity region 21 72 N/A INTRINSIC
Pfam:PCAF_N 81 331 4.4e-120 PFAM
low complexity region 398 417 N/A INTRINSIC
Pfam:Acetyltransf_7 539 622 1.2e-11 PFAM
Pfam:Acetyltransf_1 547 621 3.1e-11 PFAM
low complexity region 660 676 N/A INTRINSIC
BROMO 719 827 6.87e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150656
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to EMCV infection and decreased susceptibility to VSV infection. Mice homozygous for a different knock-out allele exhibit increased susceptibility to WNV infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tmx1 A T 12: 70,507,251 (GRCm39) probably null Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Dhx58
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Dhx58 APN 11 100,593,090 (GRCm39) missense probably benign 0.00
R0103:Dhx58 UTSW 11 100,586,096 (GRCm39) missense probably damaging 1.00
R0103:Dhx58 UTSW 11 100,586,096 (GRCm39) missense probably damaging 1.00
R0137:Dhx58 UTSW 11 100,587,823 (GRCm39) missense probably damaging 0.99
R0164:Dhx58 UTSW 11 100,586,150 (GRCm39) missense probably benign 0.42
R0164:Dhx58 UTSW 11 100,586,150 (GRCm39) missense probably benign 0.42
R0369:Dhx58 UTSW 11 100,592,374 (GRCm39) critical splice donor site probably null
R0390:Dhx58 UTSW 11 100,590,090 (GRCm39) missense probably damaging 1.00
R0606:Dhx58 UTSW 11 100,593,077 (GRCm39) missense probably benign 0.00
R1710:Dhx58 UTSW 11 100,594,400 (GRCm39) missense probably benign 0.20
R1816:Dhx58 UTSW 11 100,593,978 (GRCm39) missense probably damaging 0.98
R1993:Dhx58 UTSW 11 100,594,316 (GRCm39) splice site probably null
R2281:Dhx58 UTSW 11 100,588,980 (GRCm39) critical splice donor site probably null
R3176:Dhx58 UTSW 11 100,587,805 (GRCm39) missense probably damaging 1.00
R3276:Dhx58 UTSW 11 100,587,805 (GRCm39) missense probably damaging 1.00
R4651:Dhx58 UTSW 11 100,592,185 (GRCm39) missense probably damaging 1.00
R4652:Dhx58 UTSW 11 100,592,185 (GRCm39) missense probably damaging 1.00
R4716:Dhx58 UTSW 11 100,587,797 (GRCm39) splice site probably null
R5030:Dhx58 UTSW 11 100,586,963 (GRCm39) missense probably damaging 1.00
R5082:Dhx58 UTSW 11 100,587,802 (GRCm39) missense probably benign 0.29
R5098:Dhx58 UTSW 11 100,585,999 (GRCm39) missense probably benign
R5394:Dhx58 UTSW 11 100,589,034 (GRCm39) missense probably benign 0.00
R5397:Dhx58 UTSW 11 100,594,746 (GRCm39) missense probably damaging 1.00
R5787:Dhx58 UTSW 11 100,592,145 (GRCm39) missense possibly damaging 0.91
R5975:Dhx58 UTSW 11 100,593,035 (GRCm39) missense probably damaging 0.98
R6310:Dhx58 UTSW 11 100,590,193 (GRCm39) missense probably benign 0.01
R6935:Dhx58 UTSW 11 100,589,232 (GRCm39) splice site probably null
R7311:Dhx58 UTSW 11 100,588,997 (GRCm39) missense probably benign
R7908:Dhx58 UTSW 11 100,586,130 (GRCm39) missense probably damaging 0.99
R8317:Dhx58 UTSW 11 100,594,388 (GRCm39) missense probably damaging 1.00
R8821:Dhx58 UTSW 11 100,594,806 (GRCm39) missense probably damaging 1.00
R8831:Dhx58 UTSW 11 100,594,806 (GRCm39) missense probably damaging 1.00
R9717:Dhx58 UTSW 11 100,592,133 (GRCm39) missense probably benign 0.02
Posted On 2013-11-05