Incidental Mutation 'IGL02630:Ddx49'
ID 301263
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx49
Ensembl Gene ENSMUSG00000057788
Gene Name DEAD box helicase 49
Synonyms R27090_2, DEAD (Asp-Glu-Ala-Asp) box polypeptide 49
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL02630
Quality Score
Status
Chromosome 8
Chromosomal Location 70745516-70755121 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70753668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 67 (D67G)
Ref Sequence ENSEMBL: ENSMUSP00000008004 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008004] [ENSMUST00000066469] [ENSMUST00000128003] [ENSMUST00000150968] [ENSMUST00000168018]
AlphaFold Q4FZF3
Predicted Effect probably damaging
Transcript: ENSMUST00000008004
AA Change: D67G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000008004
Gene: ENSMUSG00000057788
AA Change: D67G

DomainStartEndE-ValueType
DEXDc 21 222 1.85e-57 SMART
HELICc 262 343 2.41e-29 SMART
low complexity region 369 383 N/A INTRINSIC
low complexity region 461 470 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066469
SMART Domains Protein: ENSMUSP00000071078
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 305 2.8e-134 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127076
Predicted Effect probably benign
Transcript: ENSMUST00000128003
SMART Domains Protein: ENSMUSP00000122888
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
Pfam:Coatomer_E 1 212 5.4e-95 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134822
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144890
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140363
Predicted Effect probably benign
Transcript: ENSMUST00000150968
SMART Domains Protein: ENSMUSP00000119055
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 227 6.5e-86 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168018
SMART Domains Protein: ENSMUSP00000130416
Gene: ENSMUSG00000055681

DomainStartEndE-ValueType
low complexity region 2 14 N/A INTRINSIC
Pfam:Coatomer_E 15 79 4.5e-22 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Nt5c2 T A 19: 46,912,749 (GRCm39) M69L probably benign Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N probably damaging Het
Other mutations in Ddx49
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00921:Ddx49 APN 8 70,747,406 (GRCm39) nonsense probably null
R0306:Ddx49 UTSW 8 70,747,322 (GRCm39) unclassified probably benign
R0394:Ddx49 UTSW 8 70,749,575 (GRCm39) missense probably damaging 0.97
R0421:Ddx49 UTSW 8 70,748,282 (GRCm39) missense probably damaging 1.00
R0524:Ddx49 UTSW 8 70,749,574 (GRCm39) missense probably damaging 0.98
R0764:Ddx49 UTSW 8 70,749,907 (GRCm39) missense probably benign 0.01
R1051:Ddx49 UTSW 8 70,747,335 (GRCm39) critical splice donor site probably null
R1852:Ddx49 UTSW 8 70,753,633 (GRCm39) missense probably damaging 1.00
R2008:Ddx49 UTSW 8 70,748,094 (GRCm39) missense probably damaging 1.00
R6216:Ddx49 UTSW 8 70,749,934 (GRCm39) missense probably damaging 1.00
R7085:Ddx49 UTSW 8 70,755,133 (GRCm39) unclassified probably benign
R7102:Ddx49 UTSW 8 70,753,726 (GRCm39) missense probably damaging 1.00
R7648:Ddx49 UTSW 8 70,750,605 (GRCm39) missense possibly damaging 0.95
R8126:Ddx49 UTSW 8 70,748,246 (GRCm39) missense probably damaging 1.00
R9364:Ddx49 UTSW 8 70,746,226 (GRCm39) missense probably benign 0.00
Posted On 2015-04-16