Incidental Mutation 'IGL02932:Ddx39b'
ID 364168
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx39b
Ensembl Gene ENSMUSG00000019432
Gene Name DEAD box helicase 39b
Synonyms D17H6S81E-1, DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B, Bat1a, Bat1, Bat-1, 0610030D10Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # IGL02932
Quality Score
Status
Chromosome 17
Chromosomal Location 35460722-35472683 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 35472337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133705 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068056] [ENSMUST00000172549] [ENSMUST00000173731] [ENSMUST00000174757]
AlphaFold Q9Z1N5
Predicted Effect probably benign
Transcript: ENSMUST00000068056
SMART Domains Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172549
SMART Domains Protein: ENSMUSP00000134178
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173731
SMART Domains Protein: ENSMUSP00000133428
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174164
Predicted Effect probably benign
Transcript: ENSMUST00000174757
SMART Domains Protein: ENSMUSP00000133705
Gene: ENSMUSG00000019432

DomainStartEndE-ValueType
DEXDc 1 147 2.85e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183361
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 member of the DEAD box family of RNA-dependent ATPases that mediate ATP hydrolysis during pre-mRNA splicing. The encoded protein is an essential splicing factor required for association of U2 small nuclear ribonucleoprotein with pre-mRNA, and it also plays an important role in mRNA export from the nucleus to the cytoplasm. This gene belongs to a cluster of genes localized in the vicinity of the genes encoding tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. Mutations in this gene may be associated with rheumatoid arthritis. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on both chromosomes 6 and 11. Read-through transcription also occurs between this gene and the upstream ATP6V1G2 (ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2) gene. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,709 (GRCm39) E122D probably damaging Het
Asb3 G A 11: 30,979,067 (GRCm39) probably null Het
Avl9 T C 6: 56,713,536 (GRCm39) S265P probably benign Het
Cep44 C T 8: 57,000,459 (GRCm39) R18Q probably damaging Het
Clec10a T C 11: 70,060,554 (GRCm39) probably benign Het
Cog4 A G 8: 111,579,065 (GRCm39) I115V probably benign Het
Coq3 C T 4: 21,900,430 (GRCm39) A219V probably benign Het
Cry2 G A 2: 92,243,462 (GRCm39) R460* probably null Het
Dhx40 G A 11: 86,662,755 (GRCm39) R646C probably damaging Het
Ears2 G A 7: 121,662,284 (GRCm39) R55C probably damaging Het
Eif3m C T 2: 104,845,214 (GRCm39) G26R probably damaging Het
Exo5 A G 4: 120,779,742 (GRCm39) L41P probably benign Het
Fut10 A G 8: 31,749,965 (GRCm39) H417R probably damaging Het
Gars1 T A 6: 55,037,929 (GRCm39) L296Q probably damaging Het
Gpr143 A T X: 151,576,439 (GRCm39) probably benign Het
Htr1b C A 9: 81,513,689 (GRCm39) R306L probably damaging Het
Lama3 G A 18: 12,661,858 (GRCm39) A2185T probably damaging Het
Mbd5 C A 2: 49,169,460 (GRCm39) Q1544K possibly damaging Het
Mccc1 T C 3: 36,014,178 (GRCm39) E713G possibly damaging Het
Mttp A G 3: 137,817,505 (GRCm39) F415S probably benign Het
Mug1 A G 6: 121,864,386 (GRCm39) T1428A probably benign Het
Mup6 A C 4: 60,006,009 (GRCm39) D159A probably damaging Het
Nsd2 T C 5: 34,037,472 (GRCm39) L698P probably damaging Het
Or2w6 A T 13: 21,843,001 (GRCm39) M164K probably damaging Het
Or4p22 G T 2: 88,317,519 (GRCm39) V148F probably benign Het
Or5p70 A G 7: 107,994,720 (GRCm39) N131S probably benign Het
Or6c217 A T 10: 129,738,287 (GRCm39) C97* probably null Het
Osgepl1 G A 1: 53,360,675 (GRCm39) R372H probably benign Het
Pias2 C T 18: 77,232,799 (GRCm39) H537Y probably damaging Het
Slc38a7 A C 8: 96,572,783 (GRCm39) I149M probably damaging Het
Smn1 A G 13: 100,264,472 (GRCm39) T68A probably benign Het
Syde2 A G 3: 145,707,231 (GRCm39) K657R possibly damaging Het
Tdrd5 A T 1: 156,098,190 (GRCm39) H625Q possibly damaging Het
Tead3 T C 17: 28,560,325 (GRCm39) Y2C probably damaging Het
Tmem255a T A X: 37,296,940 (GRCm39) T280S probably benign Het
Ttpa A G 4: 20,021,215 (GRCm39) T128A possibly damaging Het
Wdhd1 A G 14: 47,509,591 (GRCm39) probably null Het
Other mutations in Ddx39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ddx39b APN 17 35,465,937 (GRCm39) missense probably benign
R4111:Ddx39b UTSW 17 35,462,340 (GRCm39) missense possibly damaging 0.93
R4133:Ddx39b UTSW 17 35,472,065 (GRCm39) missense probably damaging 1.00
R4654:Ddx39b UTSW 17 35,472,464 (GRCm39) makesense probably null
R5083:Ddx39b UTSW 17 35,472,005 (GRCm39) missense possibly damaging 0.50
R5698:Ddx39b UTSW 17 35,470,287 (GRCm39) missense probably benign 0.16
R7060:Ddx39b UTSW 17 35,471,726 (GRCm39) missense probably damaging 0.96
R7073:Ddx39b UTSW 17 35,471,826 (GRCm39) missense probably benign 0.00
R7087:Ddx39b UTSW 17 35,472,025 (GRCm39) missense probably damaging 1.00
R7159:Ddx39b UTSW 17 35,465,986 (GRCm39) missense probably benign 0.07
R7251:Ddx39b UTSW 17 35,472,464 (GRCm39) makesense probably null
R7554:Ddx39b UTSW 17 35,466,006 (GRCm39) missense probably benign 0.00
R7748:Ddx39b UTSW 17 35,471,726 (GRCm39) missense probably damaging 0.96
R8811:Ddx39b UTSW 17 35,463,435 (GRCm39) missense probably benign
Posted On 2015-12-18