Incidental Mutation 'R7159:Ddx39b'
ID 557539
Institutional Source Beutler Lab
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
MMRRC Submission 045259-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7159 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35460722-35472683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35465986 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 169 (V169A)
Ref Sequence ENSEMBL: ENSMUSP00000070682 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068056] [ENSMUST00000172549] [ENSMUST00000173731] [ENSMUST00000174757]
AlphaFold Q9Z1N5
Predicted Effect probably benign
Transcript: ENSMUST00000068056
AA Change: V169A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432
AA Change: V169A

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172549
AA Change: V169A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000134178
Gene: ENSMUSG00000019432
AA Change: V169A

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173731
AA Change: V169A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133428
Gene: ENSMUSG00000019432
AA Change: V169A

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174757
AA Change: V87A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000133705
Gene: ENSMUSG00000019432
AA Change: V87A

DomainStartEndE-ValueType
DEXDc 1 147 2.85e-17 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 99% (70/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,380,327 (GRCm39) V500E possibly damaging Het
Ankrd34b T C 13: 92,575,970 (GRCm39) S401P probably benign Het
Arfgef2 T A 2: 166,668,848 (GRCm39) D41E probably benign Het
Arid1a T C 4: 133,480,879 (GRCm39) N15S unknown Het
Arsa A T 15: 89,358,921 (GRCm39) probably null Het
B3gnt9 C A 8: 105,981,064 (GRCm39) C108F probably damaging Het
Bbc3 C A 7: 16,047,733 (GRCm39) Y152* probably null Het
Btbd1 T C 7: 81,467,957 (GRCm39) M188V probably benign Het
Caln1 C T 5: 130,851,838 (GRCm39) T209I probably benign Het
Casp12 C T 9: 5,353,763 (GRCm39) P266S possibly damaging Het
Ccm2l A T 2: 152,912,787 (GRCm39) I109F probably damaging Het
Chst15 A C 7: 131,871,987 (GRCm39) L98R probably damaging Het
Ctsq A G 13: 61,186,737 (GRCm39) M89T probably benign Het
Fhad1 T C 4: 141,678,927 (GRCm39) H583R probably benign Het
Fndc1 T A 17: 8,019,763 (GRCm39) I139F probably damaging Het
Gm7145 C G 1: 117,913,561 (GRCm39) H148D probably benign Het
Gpr62 C A 9: 106,342,641 (GRCm39) A96S probably damaging Het
Gsap T A 5: 21,475,618 (GRCm39) probably null Het
Hdhd5 T A 6: 120,500,432 (GRCm39) T89S probably damaging Het
Kcna5 T A 6: 126,510,592 (GRCm39) Y512F probably damaging Het
Krt84 C A 15: 101,438,044 (GRCm39) E304* probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrp6 C A 6: 134,484,514 (GRCm39) V370L probably benign Het
Lrrc3c G A 11: 98,490,144 (GRCm39) G167D probably damaging Het
Man2b1 C T 8: 85,813,909 (GRCm39) T291M probably benign Het
Mapkbp1 A G 2: 119,855,613 (GRCm39) E1438G possibly damaging Het
Med12l A G 3: 59,183,438 (GRCm39) T1947A probably benign Het
Myh15 A T 16: 48,881,937 (GRCm39) T60S probably damaging Het
Myo5a A T 9: 75,078,845 (GRCm39) I868F probably benign Het
Myom3 A T 4: 135,536,162 (GRCm39) I1278F probably damaging Het
Nbn G T 4: 15,983,677 (GRCm39) probably null Het
Ncam2 G T 16: 81,287,262 (GRCm39) S392I probably damaging Het
Nrg3 A C 14: 38,092,692 (GRCm39) L647* probably null Het
Or10j7 A T 1: 173,011,890 (GRCm39) L37Q possibly damaging Het
Or2t35 T C 14: 14,407,251 (GRCm38) S8P possibly damaging Het
Or2y1g A T 11: 49,171,185 (GRCm39) D70V probably damaging Het
Or8j3c T A 2: 86,253,956 (GRCm39) probably null Het
Pcdhb9 A G 18: 37,534,545 (GRCm39) N180D possibly damaging Het
Pcdhga4 A G 18: 37,819,972 (GRCm39) N507S probably damaging Het
Pdilt A G 7: 119,087,174 (GRCm39) V492A probably benign Het
Phf12 A G 11: 77,914,366 (GRCm39) T603A possibly damaging Het
Phox2b T A 5: 67,254,928 (GRCm39) I174F probably benign Het
Polq A T 16: 36,883,215 (GRCm39) Q1793L possibly damaging Het
Prmt9 T C 8: 78,282,393 (GRCm39) F97L probably benign Het
Prpsap1 T C 11: 116,384,870 (GRCm39) E13G probably benign Het
Ptpru A G 4: 131,546,851 (GRCm39) L280P probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rc3h2 T C 2: 37,299,659 (GRCm39) S124G probably benign Het
Rdh5 A G 10: 128,754,184 (GRCm39) I83T possibly damaging Het
Rigi A G 4: 40,213,804 (GRCm39) V618A probably benign Het
Ryr2 T G 13: 11,825,794 (GRCm39) R561S probably damaging Het
Scara3 A G 14: 66,158,229 (GRCm39) L593P probably damaging Het
Scfd2 T C 5: 74,692,004 (GRCm39) I93V probably benign Het
Sema4f C A 6: 82,894,864 (GRCm39) V444L possibly damaging Het
Slco1a7 T A 6: 141,719,504 (GRCm39) M1L probably damaging Het
Spata33 T C 8: 123,941,134 (GRCm39) L61P unknown Het
Stard10 A T 7: 100,992,343 (GRCm39) probably null Het
Stub1 T C 17: 26,051,038 (GRCm39) I115V probably benign Het
Tlcd3b T C 7: 126,426,667 (GRCm39) F80S probably damaging Het
Tmem247 C T 17: 87,225,710 (GRCm39) T50I probably benign Het
Tnrc6b A G 15: 80,771,223 (GRCm39) M1103V possibly damaging Het
Trim61 T C 8: 65,466,526 (GRCm39) Y245C probably benign Het
Trip13 T C 13: 74,068,130 (GRCm39) I284V probably benign Het
Trpm4 T C 7: 44,976,692 (GRCm39) probably null Het
Ttn C A 2: 76,740,092 (GRCm39) L3528F unknown Het
Ttn A G 2: 76,560,918 (GRCm39) L29161S probably damaging Het
Ube2v2 G A 16: 15,398,948 (GRCm39) T47I probably benign Het
Vwa5b1 C T 4: 138,302,733 (GRCm39) A921T possibly damaging Het
Xylt1 T A 7: 117,236,829 (GRCm39) F526Y probably damaging Het
Other mutations in Ddx39b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Ddx39b APN 17 35,465,937 (GRCm39) missense probably benign
IGL02932:Ddx39b APN 17 35,472,337 (GRCm39) unclassified 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
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
Predicted Primers PCR Primer
(F):5'- GGTTTACAGTCAACCACAGAATG -3'
(R):5'- ATTTGGCTCAAAGGGCTGCTC -3'

Sequencing Primer
(F):5'- AATCTGTACTTGGTGCCAGACAG -3'
(R):5'- TGCTCCCCAAACCACCTGAG -3'
Posted On 2019-06-26