Incidental Mutation 'IGL02993:Ddx51'
ID 407035
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ddx51
Ensembl Gene ENSMUSG00000029504
Gene Name DEAD (Asp-Glu-Ala-Asp) box polypeptide 51
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02993
Quality Score
Status
Chromosome 5
Chromosomal Location 110653451-110660496 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110655621 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 323 (V323A)
Ref Sequence ENSEMBL: ENSMUSP00000031478 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031478] [ENSMUST00000042147] [ENSMUST00000148773]
AlphaFold Q6P9R1
Predicted Effect possibly damaging
Transcript: ENSMUST00000031478
AA Change: V323A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031478
Gene: ENSMUSG00000029504
AA Change: V323A

DomainStartEndE-ValueType
low complexity region 50 75 N/A INTRINSIC
DEXDc 189 442 4.04e-40 SMART
HELICc 491 573 2.86e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000042147
SMART Domains Protein: ENSMUSP00000038263
Gene: ENSMUSG00000033294

DomainStartEndE-ValueType
Pfam:CBF 305 453 2.7e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124612
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136442
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145712
Predicted Effect probably benign
Transcript: ENSMUST00000148773
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199795
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Ces1g T A 8: 93,317,079 M411L probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Cyp2d40 C A 15: 82,761,521 K94N probably benign Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Klhl38 T A 15: 58,322,455 K293* probably null Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tcp11 T C 17: 28,070,516 N194D probably damaging Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Ddx51
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01103:Ddx51 APN 5 110655863 missense probably benign 0.00
IGL01688:Ddx51 APN 5 110655647 missense probably benign 0.37
IGL03149:Ddx51 APN 5 110653734 missense probably benign
R1659:Ddx51 UTSW 5 110655120 missense probably damaging 0.99
R2036:Ddx51 UTSW 5 110656625 missense probably benign 0.01
R2211:Ddx51 UTSW 5 110655768 missense probably damaging 1.00
R4705:Ddx51 UTSW 5 110655308 missense probably damaging 1.00
R5239:Ddx51 UTSW 5 110653648 missense probably benign
R5255:Ddx51 UTSW 5 110656042 missense possibly damaging 0.67
R5711:Ddx51 UTSW 5 110654924 missense probably benign 0.03
R5966:Ddx51 UTSW 5 110656851 missense probably damaging 1.00
R6970:Ddx51 UTSW 5 110656862 missense probably damaging 1.00
R7374:Ddx51 UTSW 5 110657132 missense probably damaging 1.00
R7664:Ddx51 UTSW 5 110656919 critical splice donor site probably null
Z1176:Ddx51 UTSW 5 110654558 nonsense probably null
Posted On 2016-08-02