Incidental Mutation 'R3425:Ddx11'
ID 271743
Institutional Source Beutler Lab
Gene Symbol Ddx11
Ensembl Gene ENSMUSG00000035842
Gene Name DEAD/H box helicase 11
Synonyms 4732462I11Rik, DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11, CHL1, essa15a, CHLR1, KRG2
MMRRC Submission 040643-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3425 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 66430515-66459169 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66446434 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 415 (I415T)
Ref Sequence ENSEMBL: ENSMUSP00000130440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]
AlphaFold Q6AXC6
Predicted Effect possibly damaging
Transcript: ENSMUST00000163605
AA Change: I415T

PolyPhen 2 Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842
AA Change: I415T

DomainStartEndE-ValueType
DEXDc 11 408 1.14e-153 SMART
Blast:DEXDc2 430 479 6e-14 BLAST
HELICc 682 839 1.4e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223801
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223805
Predicted Effect probably benign
Transcript: ENSMUST00000224497
AA Change: I441T

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect probably benign
Transcript: ENSMUST00000224903
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226095
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency 97% (30/31)
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 an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5m1 A G 14: 49,311,140 (GRCm39) E70G probably damaging Het
Atp8b3 T C 10: 80,372,181 (GRCm39) E16G probably benign Het
Csmd3 A T 15: 47,710,648 (GRCm39) D1646E probably damaging Het
Cyp2c70 G T 19: 40,172,468 (GRCm39) A58E probably damaging Het
Gm8674 T A 13: 50,055,792 (GRCm39) noncoding transcript Het
H2-T22 A C 17: 36,352,472 (GRCm39) L151R probably damaging Het
Hmgcs1 C A 13: 120,166,668 (GRCm39) P420Q probably damaging Het
Il16 T C 7: 83,293,248 (GRCm39) E575G probably damaging Het
Ism2 T C 12: 87,333,871 (GRCm39) N58S probably benign Het
Kat7 T C 11: 95,193,991 (GRCm39) E103G probably damaging Het
Klf15 T C 6: 90,443,802 (GRCm39) S126P probably benign Het
Mapt C T 11: 104,189,548 (GRCm39) R189* probably null Het
Meltf C T 16: 31,715,343 (GRCm39) R679* probably null Het
Myo1d T C 11: 80,492,464 (GRCm39) T764A probably benign Het
Mypn T C 10: 62,954,196 (GRCm39) probably benign Het
Or5b101 G C 19: 13,005,411 (GRCm39) A94G probably benign Het
Or8h8 C T 2: 86,752,950 (GRCm39) E309K probably benign Het
Ptpn4 T C 1: 119,635,560 (GRCm39) D381G probably benign Het
Ros1 C A 10: 52,004,512 (GRCm39) probably null Het
Scel T G 14: 103,845,542 (GRCm39) V559G possibly damaging Het
Sez6l T C 5: 112,574,615 (GRCm39) D875G probably damaging Het
Slc18b1 T G 10: 23,698,874 (GRCm39) M348R probably damaging Het
Slc36a3 G T 11: 55,033,607 (GRCm39) T137K probably benign Het
Slco4c1 A T 1: 96,768,976 (GRCm39) S295R probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tmprss15 A T 16: 78,800,321 (GRCm39) N587K possibly damaging Het
Upp1 T C 11: 9,075,700 (GRCm39) probably null Het
Zp1 G A 19: 10,895,956 (GRCm39) R227W probably benign Het
Other mutations in Ddx11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01448:Ddx11 APN 17 66,441,132 (GRCm39) missense probably damaging 1.00
IGL01577:Ddx11 APN 17 66,446,398 (GRCm39) missense possibly damaging 0.95
IGL02558:Ddx11 APN 17 66,455,667 (GRCm39) missense probably damaging 0.99
IGL02801:Ddx11 APN 17 66,455,028 (GRCm39) missense probably benign 0.03
R1550:Ddx11 UTSW 17 66,445,215 (GRCm39) missense probably benign 0.16
R1587:Ddx11 UTSW 17 66,456,251 (GRCm39) missense probably damaging 1.00
R1601:Ddx11 UTSW 17 66,457,380 (GRCm39) missense probably damaging 1.00
R1625:Ddx11 UTSW 17 66,457,692 (GRCm39) missense probably benign 0.45
R1714:Ddx11 UTSW 17 66,455,754 (GRCm39) missense probably damaging 1.00
R1867:Ddx11 UTSW 17 66,442,934 (GRCm39) splice site probably null
R1959:Ddx11 UTSW 17 66,437,723 (GRCm39) missense probably benign 0.27
R1980:Ddx11 UTSW 17 66,455,734 (GRCm39) missense probably damaging 0.97
R2392:Ddx11 UTSW 17 66,456,968 (GRCm39) missense probably damaging 1.00
R3118:Ddx11 UTSW 17 66,456,272 (GRCm39) missense probably damaging 1.00
R3983:Ddx11 UTSW 17 66,441,125 (GRCm39) missense probably damaging 1.00
R4571:Ddx11 UTSW 17 66,437,768 (GRCm39) missense probably benign 0.20
R4576:Ddx11 UTSW 17 66,457,721 (GRCm39) missense probably damaging 1.00
R4847:Ddx11 UTSW 17 66,437,796 (GRCm39) missense probably damaging 1.00
R5010:Ddx11 UTSW 17 66,454,717 (GRCm39) missense possibly damaging 0.60
R5414:Ddx11 UTSW 17 66,455,763 (GRCm39) missense probably benign 0.40
R5610:Ddx11 UTSW 17 66,457,021 (GRCm39) missense probably damaging 1.00
R5822:Ddx11 UTSW 17 66,436,976 (GRCm39) missense probably benign 0.00
R5972:Ddx11 UTSW 17 66,455,085 (GRCm39) missense probably benign 0.05
R6017:Ddx11 UTSW 17 66,437,012 (GRCm39) missense
R6267:Ddx11 UTSW 17 66,457,724 (GRCm39) critical splice donor site probably null
R6296:Ddx11 UTSW 17 66,457,724 (GRCm39) critical splice donor site probably null
R7205:Ddx11 UTSW 17 66,437,766 (GRCm39) missense probably benign 0.25
R7531:Ddx11 UTSW 17 66,445,214 (GRCm39) missense probably benign 0.00
R7544:Ddx11 UTSW 17 66,433,280 (GRCm39) missense probably damaging 0.98
R7593:Ddx11 UTSW 17 66,433,193 (GRCm39) missense possibly damaging 0.48
R7598:Ddx11 UTSW 17 66,437,541 (GRCm39) splice site probably null
R7778:Ddx11 UTSW 17 66,437,543 (GRCm39) critical splice donor site probably null
R7824:Ddx11 UTSW 17 66,437,543 (GRCm39) critical splice donor site probably null
R8087:Ddx11 UTSW 17 66,456,988 (GRCm39) missense probably damaging 1.00
R8379:Ddx11 UTSW 17 66,437,020 (GRCm39) missense probably benign
R8885:Ddx11 UTSW 17 66,450,460 (GRCm39) missense probably benign 0.00
R9071:Ddx11 UTSW 17 66,450,736 (GRCm39) missense probably damaging 1.00
R9252:Ddx11 UTSW 17 66,457,807 (GRCm39) missense probably benign 0.01
R9398:Ddx11 UTSW 17 66,436,912 (GRCm39) missense probably benign 0.38
R9556:Ddx11 UTSW 17 66,447,207 (GRCm39) missense probably benign 0.06
R9639:Ddx11 UTSW 17 66,437,012 (GRCm39) missense
R9775:Ddx11 UTSW 17 66,445,157 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GAAAACCTTGGTCTCTGCTGG -3'
(R):5'- CTGTATGATTGCATAACCGTGC -3'

Sequencing Primer
(F):5'- GAGGGTTTATAGCTCACAGCC -3'
(R):5'- GCATAACCGTGCCATCTTAAAGTG -3'
Posted On 2015-03-25