Incidental Mutation 'R4111:Ddx39b'
ID 317336
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
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R4111 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 35460722-35472683 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35462340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 42 (I42N)
Ref Sequence ENSEMBL: ENSMUSP00000133428 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068056] [ENSMUST00000068261] [ENSMUST00000172549] [ENSMUST00000173731] [ENSMUST00000174757]
AlphaFold Q9Z1N5
Predicted Effect possibly damaging
Transcript: ENSMUST00000068056
AA Change: I42N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070682
Gene: ENSMUSG00000019432
AA Change: I42N

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000068261
SMART Domains Protein: ENSMUSP00000069482
Gene: ENSMUSG00000024403

DomainStartEndE-ValueType
Pfam:V-ATPase_G 3 107 3e-38 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083339
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101824
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146711
Predicted Effect possibly damaging
Transcript: ENSMUST00000172549
AA Change: I42N

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134178
Gene: ENSMUSG00000019432
AA Change: I42N

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000173731
AA Change: I42N

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000133428
Gene: ENSMUSG00000019432
AA Change: I42N

DomainStartEndE-ValueType
DEXDc 64 265 7.17e-55 SMART
HELICc 301 382 1.48e-24 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174164
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184879
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174795
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: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Ambra1 T C 2: 91,730,903 (GRCm39) S894P probably damaging Het
Arhgef12 C A 9: 42,883,570 (GRCm39) G1320C probably damaging Het
Atg7 G C 6: 114,690,255 (GRCm39) G596R probably damaging Het
Birc6 T C 17: 74,873,010 (GRCm39) V423A probably damaging Het
Bltp3a T A 17: 28,105,064 (GRCm39) L586* probably null Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Ctu2 G A 8: 123,203,256 (GRCm39) R24Q possibly damaging Het
Dclk3 T C 9: 111,298,148 (GRCm39) I564T probably damaging Het
Defa39 T C 8: 22,192,679 (GRCm39) T106A possibly damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dzip1 T A 14: 119,114,645 (GRCm39) K837* probably null Het
Epha1 G A 6: 42,335,772 (GRCm39) T955M possibly damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,095,008 (GRCm39) T79A possibly damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Ifnar1 C A 16: 91,293,046 (GRCm39) P230T probably damaging Het
Impact T C 18: 13,109,090 (GRCm39) probably null Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or10g9 C A 9: 39,912,194 (GRCm39) E110* probably null Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Or5an6 T C 19: 12,371,665 (GRCm39) F13L probably damaging Het
Or6n2 T A 1: 173,896,999 (GRCm39) I45N probably damaging Het
Pask A G 1: 93,238,540 (GRCm39) V1315A probably damaging Het
Pramel16 T A 4: 143,676,475 (GRCm39) I210F possibly damaging Het
Prl7a2 A T 13: 27,849,050 (GRCm39) Y80N possibly damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rtn2 T C 7: 19,020,769 (GRCm39) S81P probably damaging Het
Sbf2 G A 7: 110,027,449 (GRCm39) P470S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sox30 A G 11: 45,908,041 (GRCm39) Y736C probably benign Het
Srsf3-ps A T 11: 98,516,223 (GRCm39) V50D probably damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Tns1 T C 1: 73,981,091 (GRCm39) N1091S probably damaging Het
Trappc10 A G 10: 78,032,264 (GRCm39) F1008S probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Vmn1r122 A T 7: 20,867,438 (GRCm39) S206T probably damaging Het
Vmn2r1 A C 3: 63,997,176 (GRCm39) K277N probably benign Het
Vps13a T C 19: 16,617,992 (GRCm39) E2931G probably damaging Het
Wdr70 G T 15: 8,006,472 (GRCm39) Q360K probably benign Het
Wdr90 G T 17: 26,068,342 (GRCm39) Q1329K possibly damaging Het
Wrn T C 8: 33,842,183 (GRCm39) N37S probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp964 T A 8: 70,116,754 (GRCm39) S450R probably benign Het
Zkscan2 T C 7: 123,081,907 (GRCm39) probably benign Het
Zmynd10 A T 9: 107,426,251 (GRCm39) K133* probably null 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
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
Predicted Primers PCR Primer
(F):5'- CTGGGACACCTAACTCAAGAG -3'
(R):5'- TTCTACAGCTGCCGTCTTGG -3'

Sequencing Primer
(F):5'- TAACTCAAGAGACCTCCCTTCTC -3'
(R):5'- GGTACATTCTCAGAGCTTGGCC -3'
Posted On 2015-05-15