Incidental Mutation 'R7031:Dhx15'
ID 546315
Institutional Source Beutler Lab
Gene Symbol Dhx15
Ensembl Gene ENSMUSG00000029169
Gene Name DEAH-box helicase 15
Synonyms mDEAH9, HRH2, DBP1, Ddx15, DEAH (Asp-Glu-Ala-His) box polypeptide 15
MMRRC Submission 045132-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # R7031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 52307545-52347856 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52341931 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 129 (D129G)
Ref Sequence ENSEMBL: ENSMUSP00000143381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031061] [ENSMUST00000195922] [ENSMUST00000199321] [ENSMUST00000200186]
AlphaFold O35286
Predicted Effect probably benign
Transcript: ENSMUST00000031061
AA Change: D129G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: D129G

DomainStartEndE-ValueType
low complexity region 23 60 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
DEXDc 135 322 4.11e-32 SMART
AAA 152 326 1.07e-2 SMART
HELICc 363 477 1.06e-16 SMART
HA2 538 628 2.76e-31 SMART
Pfam:OB_NTP_bind 662 765 3.1e-29 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000195922
SMART Domains Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169

DomainStartEndE-ValueType
SCOP:d1jpna2 20 149 7e-17 SMART
Blast:AAA 24 186 4e-68 BLAST
PDB:3KX2|A 25 186 4e-65 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000199321
AA Change: D129G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: D129G

DomainStartEndE-ValueType
low complexity region 23 60 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
DEXDc 135 322 4.11e-32 SMART
AAA 152 326 1.07e-2 SMART
HELICc 363 477 1.06e-16 SMART
HA2 538 628 2.76e-31 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200186
AA Change: D129G

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: D129G

DomainStartEndE-ValueType
low complexity region 23 60 N/A INTRINSIC
low complexity region 79 110 N/A INTRINSIC
DEXDc 135 322 1.7e-34 SMART
AAA 152 326 1.7e-4 SMART
HELICc 363 477 4.3e-19 SMART
HA2 538 608 4.6e-20 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative ATP-dependent RNA helicase implicated in pre-mRNA splicing. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(24) : Gene trapped(24)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,058 (GRCm39) N39S probably benign Het
Abca13 C T 11: 9,571,892 (GRCm39) R4818C probably damaging Het
Acadsb A G 7: 131,045,366 (GRCm39) I433V probably benign Het
Acsl3 T A 1: 78,666,000 (GRCm39) I142N probably benign Het
Api5 G A 2: 94,255,961 (GRCm39) T242M probably benign Het
Brme1 C A 8: 84,893,313 (GRCm39) P160Q possibly damaging Het
Ccdc88c T C 12: 100,911,323 (GRCm39) E37G probably damaging Het
Cfap96 T C 8: 46,421,140 (GRCm39) I128V probably benign Het
Cntnap4 C A 8: 113,584,874 (GRCm39) Q1104K probably benign Het
Cry1 A G 10: 84,984,526 (GRCm39) S183P probably benign Het
Cuzd1 A T 7: 130,910,580 (GRCm39) F572I probably benign Het
Dcbld1 A T 10: 52,166,985 (GRCm39) D104V probably damaging Het
Dhh C T 15: 98,791,907 (GRCm39) G367E possibly damaging Het
Drd3 T A 16: 43,582,861 (GRCm39) V86E probably damaging Het
Ebf1 A G 11: 44,512,795 (GRCm39) T135A possibly damaging Het
Epha5 T C 5: 84,290,159 (GRCm39) I428V probably benign Het
Epx T A 11: 87,766,349 (GRCm39) probably benign Het
Fam83d T A 2: 158,627,227 (GRCm39) N305K probably benign Het
Gchfr T A 2: 119,000,236 (GRCm39) V39D probably benign Het
Ggnbp2 A G 11: 84,751,467 (GRCm39) L111P probably damaging Het
Gnal G A 18: 67,355,659 (GRCm39) G340D probably damaging Het
Gpat2 A G 2: 127,277,395 (GRCm39) E745G probably damaging Het
Gpbp1l1 C T 4: 116,450,045 (GRCm39) R438C probably damaging Het
Hmgxb4 C T 8: 75,756,200 (GRCm39) Q171* probably null Het
Igkv4-91 G T 6: 68,745,542 (GRCm39) R119S possibly damaging Het
Ing2 T C 8: 48,121,858 (GRCm39) D230G probably benign Het
Itfg2 A G 6: 128,393,017 (GRCm39) V82A probably damaging Het
Klhl22 T C 16: 17,594,890 (GRCm39) S340P probably damaging Het
Lipm A T 19: 34,093,871 (GRCm39) M263L probably benign Het
Ly96 A T 1: 16,758,787 (GRCm39) E19V possibly damaging Het
Mark1 C T 1: 184,644,829 (GRCm39) E376K possibly damaging Het
Mlip T A 9: 77,045,835 (GRCm39) M375L probably benign Het
Mug1 A T 6: 121,815,673 (GRCm39) N26Y probably benign Het
Or2ad1 C T 13: 21,327,170 (GRCm39) S19N probably benign Het
Or55b3 T A 7: 102,127,057 (GRCm39) T7S probably benign Het
Or5m3 C T 2: 85,838,939 (GRCm39) A273V probably benign Het
Ptk2 G A 15: 73,093,658 (GRCm39) P854S possibly damaging Het
Rb1cc1 T C 1: 6,308,690 (GRCm39) probably null Het
Rgs4 T C 1: 169,571,336 (GRCm39) T178A probably benign Het
Sel1l2 T A 2: 140,182,043 (GRCm39) K31N possibly damaging Het
Serpinf1 T C 11: 75,301,022 (GRCm39) R398G probably damaging Het
Sgo2b C T 8: 64,393,078 (GRCm39) E120K possibly damaging Het
Stard9 T C 2: 120,530,931 (GRCm39) F2396S possibly damaging Het
Trgv6 G A 13: 19,374,610 (GRCm39) E25K probably benign Het
Trpc3 A C 3: 36,675,459 (GRCm39) I893S probably benign Het
Trpc4ap C A 2: 155,534,135 (GRCm39) R31L unknown Het
Vat1l A G 8: 114,998,172 (GRCm39) R239G possibly damaging Het
Vmn1r56 T A 7: 5,199,261 (GRCm39) R119* probably null Het
Vmn2r111 T C 17: 22,790,226 (GRCm39) Y260C probably damaging Het
Zfp664 A G 5: 124,963,070 (GRCm39) T155A probably benign Het
Other mutations in Dhx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Dhx15 APN 5 52,324,117 (GRCm39) missense probably damaging 1.00
IGL00392:Dhx15 APN 5 52,314,924 (GRCm39) splice site probably benign
IGL00484:Dhx15 APN 5 52,324,154 (GRCm39) missense probably benign
IGL00691:Dhx15 APN 5 52,327,435 (GRCm39) missense probably damaging 1.00
IGL01014:Dhx15 APN 5 52,309,266 (GRCm39) missense probably damaging 1.00
IGL02808:Dhx15 APN 5 52,319,041 (GRCm39) missense possibly damaging 0.95
IGL03408:Dhx15 APN 5 52,317,654 (GRCm39) missense probably damaging 1.00
3-1:Dhx15 UTSW 5 52,324,039 (GRCm39) splice site probably benign
PIT4449001:Dhx15 UTSW 5 52,318,300 (GRCm39) missense probably damaging 0.98
R0021:Dhx15 UTSW 5 52,314,830 (GRCm39) missense probably damaging 0.98
R0133:Dhx15 UTSW 5 52,311,414 (GRCm39) missense possibly damaging 0.61
R0281:Dhx15 UTSW 5 52,308,088 (GRCm39) missense probably benign 0.10
R0566:Dhx15 UTSW 5 52,328,767 (GRCm39) missense probably damaging 1.00
R1827:Dhx15 UTSW 5 52,327,422 (GRCm39) nonsense probably null
R1864:Dhx15 UTSW 5 52,342,043 (GRCm39) missense possibly damaging 0.53
R2106:Dhx15 UTSW 5 52,327,428 (GRCm39) missense probably benign 0.00
R2931:Dhx15 UTSW 5 52,324,074 (GRCm39) missense probably benign 0.01
R2932:Dhx15 UTSW 5 52,324,074 (GRCm39) missense probably benign 0.01
R3762:Dhx15 UTSW 5 52,324,074 (GRCm39) missense probably benign 0.01
R3764:Dhx15 UTSW 5 52,324,074 (GRCm39) missense probably benign 0.01
R3948:Dhx15 UTSW 5 52,318,922 (GRCm39) splice site probably benign
R4452:Dhx15 UTSW 5 52,324,074 (GRCm39) missense probably benign 0.01
R5068:Dhx15 UTSW 5 52,327,409 (GRCm39) missense possibly damaging 0.59
R7431:Dhx15 UTSW 5 52,319,953 (GRCm39) missense probably damaging 1.00
R8677:Dhx15 UTSW 5 52,341,886 (GRCm39) missense probably benign
R8726:Dhx15 UTSW 5 52,311,568 (GRCm39) missense probably benign 0.01
R9163:Dhx15 UTSW 5 52,342,198 (GRCm39) missense probably damaging 0.98
R9319:Dhx15 UTSW 5 52,342,193 (GRCm39) nonsense probably null
X0017:Dhx15 UTSW 5 52,314,832 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGGTACTCTACAAGACAACTGG -3'
(R):5'- TGGATTGCCACCTTTAAAAGC -3'

Sequencing Primer
(F):5'- GTACTCTACAAGACAACTGGAAATG -3'
(R):5'- GGATTGCCACCTTTAAAAGCTTCTC -3'
Posted On 2019-05-13