Incidental Mutation 'R7060:Ddx39b'
ID 548225
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 045157-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R7060 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 35460722-35472683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 35471726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 291 (V291M)
Ref Sequence ENSEMBL: ENSMUSP00000133428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068056] [ENSMUST00000172549] [ENSMUST00000173731] [ENSMUST00000174757]
AlphaFold Q9Z1N5
Predicted Effect probably damaging
Transcript: ENSMUST00000068056
AA Change: V291M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432
AA Change: V291M

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000172549
AA Change: V291M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000134178
Gene: ENSMUSG00000019432
AA Change: V291M

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000173731
AA Change: V291M

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000133428
Gene: ENSMUSG00000019432
AA Change: V291M

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

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 96% (78/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,186,425 (GRCm39) T535S probably benign Het
Adamts19 A T 18: 58,970,712 (GRCm39) R99* probably null Het
Alg6 C T 4: 99,650,198 (GRCm39) L473F possibly damaging Het
Ankar A T 1: 72,695,272 (GRCm39) N893K probably benign Het
Ankrd54 G A 15: 78,939,739 (GRCm39) A183V possibly damaging Het
Anpep G T 7: 79,491,542 (GRCm39) T153K probably benign Het
Arap1 A G 7: 101,058,564 (GRCm39) probably null Het
Aspg A T 12: 112,089,387 (GRCm39) T392S probably benign Het
B230307C23Rik A C 16: 97,811,331 (GRCm39) R68S probably benign Het
Bdp1 G C 13: 100,196,002 (GRCm39) N1253K probably damaging Het
Ccrl2 G A 9: 110,884,682 (GRCm39) S272F probably damaging Het
Cdon T C 9: 35,398,205 (GRCm39) L974P probably damaging Het
Celsr1 C A 15: 85,916,856 (GRCm39) E372D probably benign Het
Cers1 A T 8: 70,768,555 (GRCm39) M16L possibly damaging Het
Col2a1 G T 15: 97,874,022 (GRCm39) Q1387K unknown Het
Dppa2 T A 16: 48,136,076 (GRCm39) S143T probably benign Het
Dpy19l1 A T 9: 24,334,419 (GRCm39) M583K possibly damaging Het
Eno3 A T 11: 70,552,245 (GRCm39) D299V possibly damaging Het
Epha8 C T 4: 136,658,469 (GRCm39) V969M probably damaging Het
Fcgbp A T 7: 27,791,358 (GRCm39) H873L probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
Fntb A C 12: 76,934,649 (GRCm39) N173T possibly damaging Het
Gins2 T A 8: 121,308,880 (GRCm39) M125L probably benign Het
Gys1 G A 7: 45,089,437 (GRCm39) A199T probably damaging Het
Herpud1 C A 8: 95,117,391 (GRCm39) H116N probably benign Het
Hoga1 C A 19: 42,048,685 (GRCm39) Y134* probably null Het
Il10ra A G 9: 45,167,522 (GRCm39) I343T probably benign Het
Inava T C 1: 136,147,935 (GRCm39) K339R possibly damaging Het
Inpp5j C T 11: 3,450,133 (GRCm39) probably null Het
Itpkb T C 1: 180,160,695 (GRCm39) S274P probably damaging Het
Kalrn C T 16: 34,177,418 (GRCm39) C249Y probably damaging Het
Klhl35 G C 7: 99,117,665 (GRCm39) A70P possibly damaging Het
Lhx1 A G 11: 84,411,108 (GRCm39) probably null Het
Lmbrd1 T C 1: 24,732,047 (GRCm39) V88A probably benign Het
Macc1 T G 12: 119,411,190 (GRCm39) L653V probably damaging Het
Madd T C 2: 91,007,452 (GRCm39) D220G probably damaging Het
Mllt10 T A 2: 18,164,371 (GRCm39) H300Q possibly damaging Het
Mlxipl G A 5: 135,161,169 (GRCm39) A363T possibly damaging Het
Mus81 G T 19: 5,537,821 (GRCm39) D78E probably benign Het
Mxd1 A T 6: 86,630,141 (GRCm39) L26M probably damaging Het
Nhsl1 C T 10: 18,402,251 (GRCm39) T1159M probably damaging Het
Nos1ap A G 1: 170,165,694 (GRCm39) S190P possibly damaging Het
Nwd1 A C 8: 73,393,322 (GRCm39) D195A probably damaging Het
Or12d13 G T 17: 37,647,352 (GRCm39) T257N probably benign Het
Or6k4 A T 1: 173,964,376 (GRCm39) D22V probably benign Het
Or8c14-ps1 G A 9: 38,101,392 (GRCm39) V124I probably damaging Het
Or8k24 T A 2: 86,216,569 (GRCm39) R64S possibly damaging Het
Otof T C 5: 30,545,700 (GRCm39) D500G possibly damaging Het
Pcgf5 T A 19: 36,420,339 (GRCm39) Y190* probably null Het
Pdcd11 C T 19: 47,099,418 (GRCm39) T839I probably benign Het
Ppard G C 17: 28,517,886 (GRCm39) S318T probably benign Het
Ppfia2 A G 10: 106,597,970 (GRCm39) K178E probably damaging Het
Ppm1n G T 7: 19,013,187 (GRCm39) R255S probably damaging Het
Ppp1r21 A G 17: 88,887,972 (GRCm39) Y693C probably damaging Het
Ppp2r5d A T 17: 46,998,279 (GRCm39) V169E possibly damaging Het
Prc1 A T 7: 79,954,121 (GRCm39) T53S probably benign Het
Pwp2 A C 10: 78,009,084 (GRCm39) probably null Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Ring1 A G 17: 34,242,364 (GRCm39) C48R probably damaging Het
Rpap1 T C 2: 119,604,043 (GRCm39) D496G probably damaging Het
Rspo4 C A 2: 151,714,998 (GRCm39) Q212K unknown Het
Samd9l T A 6: 3,372,716 (GRCm39) D1515V probably damaging Het
Serinc3 T C 2: 163,478,879 (GRCm39) T83A probably benign Het
Setd5 A C 6: 113,094,343 (GRCm39) D420A probably damaging Het
Sidt2 T C 9: 45,864,544 (GRCm39) T62A possibly damaging Het
Smarcal1 T C 1: 72,652,101 (GRCm39) V621A probably damaging Het
Srcin1 A G 11: 97,464,711 (GRCm39) L12P probably damaging Het
Stx18 G A 5: 38,278,599 (GRCm39) D165N possibly damaging Het
Sumf2 A G 5: 129,883,341 (GRCm39) K139E possibly damaging Het
Tdo2 A T 3: 81,876,866 (GRCm39) I102N probably damaging Het
Tdp1 T A 12: 99,877,947 (GRCm39) S410T probably benign Het
Tmem94 A T 11: 115,683,764 (GRCm39) I726F probably damaging Het
Ttc21a A G 9: 119,795,742 (GRCm39) E1192G probably damaging Het
Ttc8 T C 12: 98,909,726 (GRCm39) I52T probably benign Het
Vmn2r99 A T 17: 19,614,826 (GRCm39) R849* probably null Het
Wwc1 T C 11: 35,806,003 (GRCm39) K77E possibly damaging Het
Xirp2 A T 2: 67,345,952 (GRCm39) E2731V probably damaging Het
Zfp1006 A C 8: 129,945,613 (GRCm39) I404R probably benign Het
Zfp423 G A 8: 88,509,507 (GRCm39) T258I 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
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
Predicted Primers PCR Primer
(F):5'- AAAGTGCACTTGCCAGACAC -3'
(R):5'- CGAGAGAGCCTTTGTGAGAG -3'

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