Incidental Mutation 'R4700:Ddx4'
ID 355960
Institutional Source Beutler Lab
Gene Symbol Ddx4
Ensembl Gene ENSMUSG00000021758
Gene Name DEAD box helicase 4
Synonyms VASA, mvh / m'vasa, DEAD (Asp-Glu-Ala-Asp) box polypeptide 4, Mvh
MMRRC Submission 041948-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.686) question?
Stock # R4700 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 112734867-112789009 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 112750269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 421 (T421A)
Ref Sequence ENSEMBL: ENSMUSP00000096769 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075748] [ENSMUST00000099166]
AlphaFold Q61496
Predicted Effect probably damaging
Transcript: ENSMUST00000075748
AA Change: T395A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075157
Gene: ENSMUSG00000021758
AA Change: T395A

DomainStartEndE-ValueType
Blast:DEXDc 22 165 8e-14 BLAST
low complexity region 175 183 N/A INTRINSIC
low complexity region 221 229 N/A INTRINSIC
DEXDc 280 491 9.38e-59 SMART
HELICc 527 608 1.18e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099166
AA Change: T421A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096769
Gene: ENSMUSG00000021758
AA Change: T421A

DomainStartEndE-ValueType
Blast:DEXDc 41 191 7e-25 BLAST
low complexity region 201 209 N/A INTRINSIC
low complexity region 247 255 N/A INTRINSIC
DEXDc 306 517 9.38e-59 SMART
HELICc 553 634 1.18e-32 SMART
Meta Mutation Damage Score 0.8273 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (127/131)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Spermatogenesis is blocked in homozygous mutant mice, resulting in male infertility. Female mutant mice are fertile and do not exhibit any obvious reproductive defects. [provided by MGI curators]
Allele List at MGI

All alleles(5) : Targeted, other(3) Gene trapped(2)

Other mutations in this stock
Total: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530084C06Rik A G 13: 31,742,795 (GRCm39) probably benign Het
Abca13 A G 11: 9,242,306 (GRCm39) T1390A possibly damaging Het
Abca14 T A 7: 119,911,928 (GRCm39) probably null Het
Abca8a A C 11: 109,961,308 (GRCm39) V538G probably damaging Het
Acy1 C T 9: 106,310,782 (GRCm39) G329R probably benign Het
Adamts17 T C 7: 66,691,636 (GRCm39) C607R probably damaging Het
Adamts20 A T 15: 94,292,503 (GRCm39) C202* probably null Het
Adcy5 A G 16: 35,099,586 (GRCm39) N712S possibly damaging Het
Ahnak A G 19: 8,982,045 (GRCm39) K1110E probably benign Het
Anks6 T A 4: 47,033,127 (GRCm39) H578L possibly damaging Het
Appl1 C A 14: 26,647,928 (GRCm39) L626F probably benign Het
Arl1 A G 10: 88,566,499 (GRCm39) probably benign Het
Atf4 T A 15: 80,141,618 (GRCm39) I336K probably damaging Het
Atp7b A T 8: 22,490,137 (GRCm39) S1044T probably benign Het
Carm1 A G 9: 21,498,480 (GRCm39) N466S probably benign Het
Cbl A G 9: 44,084,677 (GRCm39) S153P probably damaging Het
Ccdc159 A G 9: 21,839,027 (GRCm39) probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdc7 T C 5: 107,121,707 (GRCm39) F207L probably benign Het
Celsr2 T C 3: 108,304,547 (GRCm39) R2271G probably benign Het
Cep162 T C 9: 87,088,915 (GRCm39) Q989R probably damaging Het
Cep89 A G 7: 35,137,862 (GRCm39) T749A probably benign Het
Clcn5 T C X: 7,032,591 (GRCm39) probably null Het
Clu A T 14: 66,217,313 (GRCm39) Y382F probably benign Het
Cnih4 A G 1: 180,993,808 (GRCm39) probably benign Het
Crb1 A G 1: 139,126,509 (GRCm39) L1340P probably damaging Het
Dennd5a T C 7: 109,520,405 (GRCm39) E484G probably benign Het
Dsg4 G T 18: 20,589,965 (GRCm39) V372L possibly damaging Het
Dyrk2 T C 10: 118,704,191 (GRCm39) D21G probably benign Het
E2f1 C G 2: 154,405,942 (GRCm39) G144R probably damaging Het
Epb41l4a A T 18: 33,935,560 (GRCm39) probably null Het
F10 G T 8: 13,089,621 (GRCm39) V67F possibly damaging Het
Fat3 A G 9: 15,942,469 (GRCm39) I1301T probably damaging Het
Filip1l A G 16: 57,391,058 (GRCm39) T549A probably benign Het
Flt4 C A 11: 49,517,271 (GRCm39) probably benign Het
Fndc1 G A 17: 7,990,312 (GRCm39) T1128I unknown Het
Fos T C 12: 85,522,936 (GRCm39) S283P probably benign Het
Fryl T C 5: 73,222,881 (GRCm39) Y1900C possibly damaging Het
Fsip2 C A 2: 82,817,373 (GRCm39) Q4369K probably benign Het
Gad2 A T 2: 22,563,982 (GRCm39) H395L probably damaging Het
Grm2 T A 9: 106,531,130 (GRCm39) I120F probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Igsf10 A T 3: 59,227,751 (GRCm39) I1974N probably damaging Het
Il23r T C 6: 67,450,834 (GRCm39) N215S probably damaging Het
Jph1 T A 1: 17,161,928 (GRCm39) M245L possibly damaging Het
Loxl4 G A 19: 42,596,052 (GRCm39) H147Y probably benign Het
Lsg1 A G 16: 30,384,267 (GRCm39) I521T probably damaging Het
Ltc4s C T 11: 50,127,908 (GRCm39) G83R probably damaging Het
Map2 A G 1: 66,449,796 (GRCm39) E173G probably damaging Het
Med29 T A 7: 28,086,352 (GRCm39) D152V possibly damaging Het
Megf8 A G 7: 25,062,940 (GRCm39) D2432G probably damaging Het
Mrpl38 G A 11: 116,025,978 (GRCm39) probably benign Het
Myh7 A G 14: 55,225,778 (GRCm39) I521T possibly damaging Het
Mylk G T 16: 34,742,805 (GRCm39) V1106L probably benign Het
Myo15b A T 11: 115,752,761 (GRCm39) D753V possibly damaging Het
Myo1g T C 11: 6,466,785 (GRCm39) probably null Het
Myrfl A G 10: 116,613,247 (GRCm39) probably null Het
Naip5 A G 13: 100,359,922 (GRCm39) V438A possibly damaging Het
Nav3 A G 10: 109,600,796 (GRCm39) V1277A probably benign Het
Nek10 T A 14: 14,842,841 (GRCm38) V182E possibly damaging Het
Ngly1 T C 14: 16,281,809 (GRCm38) V355A probably benign Het
Nol6 T C 4: 41,118,944 (GRCm39) E683G possibly damaging Het
Obsl1 A T 1: 75,480,085 (GRCm39) V487E probably damaging Het
Oc90 T A 15: 65,753,354 (GRCm39) R322W possibly damaging Het
Or1q1 C A 2: 36,887,515 (GRCm39) A231D probably benign Het
Or4f60 A G 2: 111,902,097 (GRCm39) V277A possibly damaging Het
Or52e4 A T 7: 104,705,483 (GRCm39) H10L possibly damaging Het
Or8b4 A G 9: 37,830,217 (GRCm39) E93G possibly damaging Het
Osbp2 T C 11: 3,662,160 (GRCm39) H231R probably damaging Het
Pate6 A T 9: 35,701,021 (GRCm39) C22S probably damaging Het
Pdzph1 T C 17: 59,281,541 (GRCm39) H247R probably damaging Het
Pidd1 T C 7: 141,022,162 (GRCm39) N209S probably damaging Het
Pknox1 C T 17: 31,822,286 (GRCm39) A351V probably damaging Het
Plxnd1 C A 6: 115,935,576 (GRCm39) V1737F probably damaging Het
Prkdc A T 16: 15,519,976 (GRCm39) K1138M probably damaging Het
Rad54l2 T C 9: 106,631,224 (GRCm39) D21G possibly damaging Het
Recql4 C T 15: 76,592,785 (GRCm39) C302Y probably damaging Het
Scgb2b6 T C 7: 31,318,908 (GRCm39) noncoding transcript Het
Sdc1 A G 12: 8,840,541 (GRCm39) E106G possibly damaging Het
Slc10a5 T G 3: 10,400,360 (GRCm39) Q100P probably damaging Het
Slc10a5 C A 3: 10,400,359 (GRCm39) Q100H probably damaging Het
Slc5a9 A T 4: 111,748,134 (GRCm39) L226Q possibly damaging Het
Slfn1 T C 11: 83,012,475 (GRCm39) V197A probably benign Het
Spire1 T C 18: 67,645,935 (GRCm39) M244V probably benign Het
St3gal3 C T 4: 117,817,232 (GRCm39) V141I probably benign Het
St6galnac4 G T 2: 32,477,172 (GRCm39) probably benign Het
Svep1 T C 4: 58,097,323 (GRCm39) K1407E possibly damaging Het
Tbc1d32 A G 10: 56,100,745 (GRCm39) C78R probably damaging Het
Tcstv5 T C 13: 120,411,378 (GRCm39) Y76C probably benign Het
Tln2 A G 9: 67,253,809 (GRCm39) V754A probably benign Het
Tmeff1 A T 4: 48,636,869 (GRCm39) Y189F possibly damaging Het
Tmem131l C T 3: 83,806,519 (GRCm39) A1433T probably benign Het
Tnfrsf8 T C 4: 145,029,692 (GRCm39) Y36C probably damaging Het
Trp53i11 G T 2: 93,030,245 (GRCm39) R184L probably damaging Het
Trpv1 A T 11: 73,142,110 (GRCm39) M214L possibly damaging Het
Tsnax T A 8: 125,755,533 (GRCm39) S132T probably benign Het
Ttc28 T C 5: 111,424,909 (GRCm39) L1547P probably damaging Het
Ttc3 A G 16: 94,240,100 (GRCm39) probably null Het
Tubal3 T A 13: 3,983,514 (GRCm39) D431E probably damaging Het
Ugt2b36 A T 5: 87,240,301 (GRCm39) probably null Het
Vmn1r23 A T 6: 57,903,190 (GRCm39) I196K probably benign Het
Vmn1r55 A C 7: 5,149,586 (GRCm39) L279R probably damaging Het
Vmn1r55 G T 7: 5,149,587 (GRCm39) L279M probably damaging Het
Vmn2r89 G A 14: 51,694,942 (GRCm39) G474E probably damaging Het
Vps26b T C 9: 26,926,511 (GRCm39) K163E probably damaging Het
Zfp142 A G 1: 74,609,431 (GRCm39) F1352L probably damaging Het
Zfp422 C T 6: 116,603,844 (GRCm39) E52K possibly damaging Het
Zfp423 T A 8: 88,508,338 (GRCm39) probably null Het
Zfp493 T C 13: 67,934,736 (GRCm39) F230L probably damaging Het
Zfp760 T C 17: 21,941,388 (GRCm39) C188R probably benign Het
Zfyve28 G T 5: 34,375,189 (GRCm39) T275K probably damaging Het
Znhit3 T C 11: 84,807,155 (GRCm39) N5D probably benign Het
Other mutations in Ddx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02030:Ddx4 APN 13 112,761,311 (GRCm39) splice site probably benign
IGL02682:Ddx4 APN 13 112,758,720 (GRCm39) missense probably benign 0.04
IGL02729:Ddx4 APN 13 112,787,946 (GRCm39) utr 5 prime probably benign
H8930:Ddx4 UTSW 13 112,750,367 (GRCm39) splice site probably null
R0518:Ddx4 UTSW 13 112,761,313 (GRCm39) critical splice donor site probably null
R0521:Ddx4 UTSW 13 112,761,313 (GRCm39) critical splice donor site probably null
R1527:Ddx4 UTSW 13 112,758,773 (GRCm39) missense possibly damaging 0.95
R1548:Ddx4 UTSW 13 112,736,531 (GRCm39) missense probably damaging 1.00
R1773:Ddx4 UTSW 13 112,736,436 (GRCm39) missense probably benign
R1886:Ddx4 UTSW 13 112,759,199 (GRCm39) missense probably damaging 1.00
R1969:Ddx4 UTSW 13 112,757,276 (GRCm39) missense probably damaging 0.99
R1969:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R1970:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R1971:Ddx4 UTSW 13 112,736,547 (GRCm39) missense probably damaging 0.99
R2265:Ddx4 UTSW 13 112,757,810 (GRCm39) missense probably benign 0.08
R2280:Ddx4 UTSW 13 112,757,190 (GRCm39) missense probably benign 0.03
R2846:Ddx4 UTSW 13 112,741,146 (GRCm39) missense probably damaging 0.99
R2906:Ddx4 UTSW 13 112,757,311 (GRCm39) splice site probably benign
R2980:Ddx4 UTSW 13 112,748,619 (GRCm39) missense probably damaging 1.00
R3732:Ddx4 UTSW 13 112,748,516 (GRCm39) missense possibly damaging 0.56
R4085:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4088:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4089:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4090:Ddx4 UTSW 13 112,750,295 (GRCm39) missense probably benign 0.05
R4600:Ddx4 UTSW 13 112,748,594 (GRCm39) missense probably damaging 1.00
R4610:Ddx4 UTSW 13 112,748,594 (GRCm39) missense probably damaging 1.00
R4669:Ddx4 UTSW 13 112,758,778 (GRCm39) missense probably damaging 1.00
R4782:Ddx4 UTSW 13 112,787,894 (GRCm39) missense probably benign 0.10
R4782:Ddx4 UTSW 13 112,750,230 (GRCm39) critical splice donor site probably null
R5326:Ddx4 UTSW 13 112,757,779 (GRCm39) missense probably damaging 1.00
R5542:Ddx4 UTSW 13 112,757,779 (GRCm39) missense probably damaging 1.00
R6111:Ddx4 UTSW 13 112,757,766 (GRCm39) nonsense probably null
R6253:Ddx4 UTSW 13 112,772,557 (GRCm39) missense probably benign 0.00
R6253:Ddx4 UTSW 13 112,772,556 (GRCm39) nonsense probably null
R6286:Ddx4 UTSW 13 112,750,269 (GRCm39) missense probably damaging 1.00
R6518:Ddx4 UTSW 13 112,741,081 (GRCm39) missense probably benign
R6645:Ddx4 UTSW 13 112,777,708 (GRCm39) missense possibly damaging 0.70
R7017:Ddx4 UTSW 13 112,738,022 (GRCm39) missense probably damaging 1.00
R7155:Ddx4 UTSW 13 112,750,319 (GRCm39) missense probably benign 0.01
R7822:Ddx4 UTSW 13 112,748,647 (GRCm39) missense probably damaging 1.00
R7921:Ddx4 UTSW 13 112,738,041 (GRCm39) missense probably benign
R8041:Ddx4 UTSW 13 112,762,928 (GRCm39) missense probably benign
R8048:Ddx4 UTSW 13 112,758,706 (GRCm39) missense probably null 1.00
R8939:Ddx4 UTSW 13 112,758,823 (GRCm39) missense probably benign 0.21
R9325:Ddx4 UTSW 13 112,736,441 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCTATTATCCTGTGCGATTATCTTGAC -3'
(R):5'- TGCCTTTTGACATGATAAACTTCCC -3'

Sequencing Primer
(F):5'- CCTGTGCGATTATCTTGACAATTTTG -3'
(R):5'- GTCATATATGGAGGAACCCAG -3'
Posted On 2015-10-21