Incidental Mutation 'IGL02074:Dixdc1'
ID 185925
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dixdc1
Ensembl Gene ENSMUSG00000032064
Gene Name DIX domain containing 1
Synonyms Ccd1, 4930563F16Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02074
Quality Score
Status
Chromosome 9
Chromosomal Location 50574052-50650817 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 50613317 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 212 (V212M)
Ref Sequence ENSEMBL: ENSMUSP00000113089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000117646] [ENSMUST00000121634]
AlphaFold Q80Y83
Predicted Effect probably benign
Transcript: ENSMUST00000034566
AA Change: V213M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: V213M

DomainStartEndE-ValueType
CH 22 151 5.48e-8 SMART
low complexity region 178 190 N/A INTRINSIC
low complexity region 237 254 N/A INTRINSIC
coiled coil region 306 338 N/A INTRINSIC
coiled coil region 359 492 N/A INTRINSIC
Pfam:DIX 627 706 1.1e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117646
AA Change: V187M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: V187M

DomainStartEndE-ValueType
CH 22 125 1.25e-11 SMART
low complexity region 152 164 N/A INTRINSIC
low complexity region 211 228 N/A INTRINSIC
coiled coil region 280 312 N/A INTRINSIC
coiled coil region 333 466 N/A INTRINSIC
Pfam:DIX 600 682 5.1e-37 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121634
AA Change: V212M

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: V212M

DomainStartEndE-ValueType
CH 21 150 5.48e-8 SMART
low complexity region 177 189 N/A INTRINSIC
low complexity region 236 253 N/A INTRINSIC
coiled coil region 305 337 N/A INTRINSIC
coiled coil region 358 491 N/A INTRINSIC
Pfam:DIX 625 707 5.3e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141919
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149717
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151109
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154315
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a positive regulator of the Wnt signaling pathway. The encoded protein is found associated with gamma tubulin at the centrosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced spontaneous locomotor activity, abnormal behavior in the elevated plus maze, and deficits in startle reactivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Nexmif A T X: 103,131,497 (GRCm39) M140K probably damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Ubxn8 T C 8: 34,113,206 (GRCm39) K216R possibly damaging Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Dixdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Dixdc1 APN 9 50,579,033 (GRCm39) missense probably damaging 0.98
IGL01556:Dixdc1 APN 9 50,617,434 (GRCm39) missense probably damaging 1.00
IGL01923:Dixdc1 APN 9 50,606,803 (GRCm39) missense possibly damaging 0.87
IGL01933:Dixdc1 APN 9 50,614,558 (GRCm39) nonsense probably null
IGL02364:Dixdc1 APN 9 50,593,931 (GRCm39) splice site probably benign
R0230:Dixdc1 UTSW 9 50,606,807 (GRCm39) missense possibly damaging 0.80
R0401:Dixdc1 UTSW 9 50,604,974 (GRCm39) missense possibly damaging 0.54
R0410:Dixdc1 UTSW 9 50,596,153 (GRCm39) missense probably damaging 1.00
R1028:Dixdc1 UTSW 9 50,614,546 (GRCm39) missense probably benign 0.02
R1083:Dixdc1 UTSW 9 50,588,293 (GRCm39) intron probably benign
R1672:Dixdc1 UTSW 9 50,601,164 (GRCm39) missense probably damaging 1.00
R1752:Dixdc1 UTSW 9 50,593,850 (GRCm39) missense probably benign
R2213:Dixdc1 UTSW 9 50,613,245 (GRCm39) missense probably benign 0.01
R2289:Dixdc1 UTSW 9 50,595,172 (GRCm39) critical splice donor site probably null
R2939:Dixdc1 UTSW 9 50,622,259 (GRCm39) missense probably damaging 0.98
R2940:Dixdc1 UTSW 9 50,622,259 (GRCm39) missense probably damaging 0.98
R3081:Dixdc1 UTSW 9 50,622,259 (GRCm39) missense probably damaging 0.98
R4982:Dixdc1 UTSW 9 50,593,902 (GRCm39) missense possibly damaging 0.89
R5250:Dixdc1 UTSW 9 50,595,035 (GRCm39) missense possibly damaging 0.88
R5581:Dixdc1 UTSW 9 50,580,780 (GRCm39) missense probably damaging 1.00
R5914:Dixdc1 UTSW 9 50,609,888 (GRCm39) intron probably benign
R6228:Dixdc1 UTSW 9 50,614,656 (GRCm39) splice site probably null
R6346:Dixdc1 UTSW 9 50,595,253 (GRCm39) missense probably damaging 1.00
R6370:Dixdc1 UTSW 9 50,593,523 (GRCm39) splice site probably null
R7036:Dixdc1 UTSW 9 50,593,864 (GRCm39) missense probably benign 0.03
R7074:Dixdc1 UTSW 9 50,601,214 (GRCm39) missense possibly damaging 0.83
R7361:Dixdc1 UTSW 9 50,599,953 (GRCm39) missense probably damaging 0.99
R7734:Dixdc1 UTSW 9 50,613,268 (GRCm39) missense probably damaging 1.00
R8292:Dixdc1 UTSW 9 50,621,989 (GRCm39) missense probably benign 0.03
R8318:Dixdc1 UTSW 9 50,595,709 (GRCm39) critical splice acceptor site probably null
R8353:Dixdc1 UTSW 9 50,596,186 (GRCm39) missense probably benign 0.24
R8453:Dixdc1 UTSW 9 50,596,186 (GRCm39) missense probably benign 0.24
R8462:Dixdc1 UTSW 9 50,622,079 (GRCm39) nonsense probably null
R8810:Dixdc1 UTSW 9 50,613,265 (GRCm39) missense probably damaging 1.00
R8871:Dixdc1 UTSW 9 50,595,096 (GRCm39) missense possibly damaging 0.89
R8872:Dixdc1 UTSW 9 50,614,453 (GRCm39) missense possibly damaging 0.77
RF016:Dixdc1 UTSW 9 50,604,941 (GRCm39) missense probably benign
Posted On 2014-05-07