Incidental Mutation 'IGL00484:Dhx15'
ID5626
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhx15
Ensembl Gene ENSMUSG00000029169
Gene NameDEAH (Asp-Glu-Ala-His) box polypeptide 15
SynonymsDdx15, HRH2, DBP1, mDEAH9
Accession Numbers

Genbank: NM_001042620, NM_007839; MGI: 1099786

Is this an essential gene? Probably essential (E-score: 0.946) question?
Stock #IGL00484
Quality Score
Status
Chromosome5
Chromosomal Location52150203-52190514 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 52166812 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 379 (E379D)
Ref Sequence ENSEMBL: ENSMUSP00000143381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031061] [ENSMUST00000195922] [ENSMUST00000199321] [ENSMUST00000200186]
Predicted Effect probably benign
Transcript: ENSMUST00000031061
AA Change: E379D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031061
Gene: ENSMUSG00000029169
AA Change: E379D

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
AA Change: E169D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143658
Gene: ENSMUSG00000029169
AA Change: E169D

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: E379D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143069
Gene: ENSMUSG00000029169
AA Change: E379D

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: E379D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000143381
Gene: ENSMUSG00000029169
AA Change: E379D

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
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
1810013L24Rik T C 16: 8,831,311 probably benign Het
Adgra1 A G 7: 139,875,944 Q496R probably benign Het
Ankrd17 A T 5: 90,268,361 S1151T probably damaging Het
Ankrd55 A G 13: 112,367,794 K330R probably benign Het
Anln A T 9: 22,360,824 Y666* probably null Het
Atp1a2 A G 1: 172,276,002 W984R probably damaging Het
Atp8b3 G T 10: 80,526,164 probably benign Het
Casc3 A G 11: 98,823,202 E420G possibly damaging Het
Cep250 G A 2: 155,991,329 D1724N probably benign Het
Dock1 T A 7: 135,146,531 probably benign Het
Exph5 C T 9: 53,376,706 Q1696* probably null Het
Fkbp6 C A 5: 135,339,948 A213S possibly damaging Het
Fndc4 A G 5: 31,293,496 probably benign Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Glmp T A 3: 88,325,862 probably null Het
Gm12794 T C 4: 101,941,701 F290L probably benign Het
Gm13101 G A 4: 143,966,614 probably benign Het
Hist1h2an G T 13: 21,786,921 R100S probably benign Het
Ighv1-19 G A 12: 114,708,709 T97I probably benign Het
Kdm6b T C 11: 69,406,306 S407G possibly damaging Het
Lrp1b T C 2: 41,110,861 Y2231C probably damaging Het
Lyst T A 13: 13,709,603 S2999T probably benign Het
Lztr1 T C 16: 17,517,450 probably benign Het
N4bp2 T C 5: 65,807,524 V972A probably damaging Het
Ncoa6 A T 2: 155,406,208 S1725R probably damaging Het
Nfkbiz A G 16: 55,817,909 V396A probably benign Het
Nup205 A G 6: 35,214,802 Q1074R probably damaging Het
Pard3 T C 8: 127,371,846 V456A probably benign Het
Peli1 T A 11: 21,146,952 V114E probably damaging Het
Phf20l1 T G 15: 66,615,633 probably benign Het
Pik3r1 A C 13: 101,701,747 I267S probably benign Het
Polh C T 17: 46,172,243 probably benign Het
Ppl A G 16: 5,087,952 I1493T probably benign Het
Prg3 A G 2: 84,988,747 I6V probably benign Het
Ptprg T C 14: 12,215,220 V1069A probably damaging Het
Rasal2 A T 1: 157,174,175 probably null Het
Slc36a2 A T 11: 55,162,788 Y341* probably null Het
Smim4 T A 14: 31,088,922 probably benign Het
Snapc3 A G 4: 83,436,396 I215V probably damaging Het
Srrm2 T A 17: 23,818,518 S1475T probably benign Het
Sycp2 A T 2: 178,382,348 D414E probably damaging Het
Tanc1 A G 2: 59,793,176 T468A probably benign Het
Tfap2d A G 1: 19,142,881 T310A probably benign Het
Tgfbr2 T A 9: 116,158,289 I51F probably benign Het
Trip11 A T 12: 101,885,311 C546* probably null Het
Ttbk2 C T 2: 120,773,886 W210* probably null Het
Upk1b T G 16: 38,780,016 N201H possibly damaging Het
Ush2a A T 1: 188,782,513 T3180S probably benign Het
Vps13d T G 4: 145,126,575 Q2323P probably benign Het
Zfp810 A T 9: 22,278,309 Y434* probably null Het
Other mutations in Dhx15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Dhx15 APN 5 52166775 missense probably damaging 1.00
IGL00392:Dhx15 APN 5 52157582 splice site probably benign
IGL00691:Dhx15 APN 5 52170093 missense probably damaging 1.00
IGL01014:Dhx15 APN 5 52151924 missense probably damaging 1.00
IGL02808:Dhx15 APN 5 52161699 missense possibly damaging 0.95
IGL03408:Dhx15 APN 5 52160312 missense probably damaging 1.00
3-1:Dhx15 UTSW 5 52166697 splice site probably benign
PIT4449001:Dhx15 UTSW 5 52160958 missense probably damaging 0.98
R0021:Dhx15 UTSW 5 52157488 missense probably damaging 0.98
R0133:Dhx15 UTSW 5 52154072 missense possibly damaging 0.61
R0281:Dhx15 UTSW 5 52150746 missense probably benign 0.10
R0566:Dhx15 UTSW 5 52171425 missense probably damaging 1.00
R1827:Dhx15 UTSW 5 52170080 nonsense probably null
R1864:Dhx15 UTSW 5 52184701 missense possibly damaging 0.53
R2106:Dhx15 UTSW 5 52170086 missense probably benign 0.00
R2931:Dhx15 UTSW 5 52166732 missense probably benign 0.01
R2932:Dhx15 UTSW 5 52166732 missense probably benign 0.01
R3762:Dhx15 UTSW 5 52166732 missense probably benign 0.01
R3764:Dhx15 UTSW 5 52166732 missense probably benign 0.01
R3948:Dhx15 UTSW 5 52161580 splice site probably benign
R4452:Dhx15 UTSW 5 52166732 missense probably benign 0.01
R5068:Dhx15 UTSW 5 52170067 missense possibly damaging 0.59
R7031:Dhx15 UTSW 5 52184589 missense probably benign 0.03
R7431:Dhx15 UTSW 5 52162611 missense probably damaging 1.00
X0017:Dhx15 UTSW 5 52157490 missense probably damaging 1.00
Posted On2012-04-20