Incidental Mutation 'IGL01556:Dixdc1'
ID90731
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dixdc1
Ensembl Gene ENSMUSG00000032064
Gene NameDIX domain containing 1
Synonyms4930563F16Rik, Ccd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01556
Quality Score
Status
Chromosome9
Chromosomal Location50662752-50739517 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 50706134 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 128 (S128P)
Ref Sequence ENSEMBL: ENSMUSP00000113089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000117093] [ENSMUST00000117646] [ENSMUST00000118707] [ENSMUST00000121634]
Predicted Effect probably damaging
Transcript: ENSMUST00000034566
AA Change: S129P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: S129P

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: ENSMUST00000117093
SMART Domains Protein: ENSMUSP00000112654
Gene: ENSMUSG00000032064

DomainStartEndE-ValueType
Pfam:CH 22 88 3.2e-9 PFAM
Pfam:CAMSAP_CH 30 62 1.2e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117646
AA Change: S103P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: S103P

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: ENSMUST00000118707
SMART Domains Protein: ENSMUSP00000113907
Gene: ENSMUSG00000032064

DomainStartEndE-ValueType
Pfam:CH 23 89 2.3e-9 PFAM
Pfam:CAMSAP_CH 31 63 8.1e-7 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000121634
AA Change: S128P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: S128P

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 113,845,109 I81V probably benign Het
Armc3 T A 2: 19,269,146 D330E probably damaging Het
Atp6v0b A G 4: 117,885,865 F49S probably damaging Het
Atp8b3 A C 10: 80,530,968 Y265* probably null Het
Cdh11 A G 8: 102,679,644 Y66H probably damaging Het
Cntn5 T A 9: 9,673,908 M730L probably benign Het
Cntrl A G 2: 35,173,059 T1556A probably benign Het
Doxl2 A C 6: 48,975,684 D181A possibly damaging Het
Egfr T C 11: 16,905,382 L889S probably damaging Het
F830045P16Rik A G 2: 129,463,720 Y245H probably benign Het
Fam124a G A 14: 62,587,732 C225Y probably damaging Het
Frem2 T C 3: 53,535,281 T2612A probably benign Het
Gkap1 A T 13: 58,263,292 I89N probably benign Het
Gm1840 A G 8: 5,639,833 noncoding transcript Het
Gm8247 A T 14: 44,586,354 K75* probably null Het
Hdac11 T A 6: 91,173,180 H320Q probably benign Het
Iyd A G 10: 3,547,091 I149V probably benign Het
Krtap4-6 T A 11: 99,665,850 Q17L unknown Het
Lrrc24 T A 15: 76,722,575 D207V probably damaging Het
Mfsd12 G A 10: 81,363,024 C425Y probably damaging Het
Muc5b A G 7: 141,863,240 T3308A probably benign Het
Myo18b A G 5: 112,757,449 probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Nin A G 12: 70,043,188 V1151A probably benign Het
Nrf1 A G 6: 30,126,367 probably benign Het
Pcdhb20 T C 18: 37,504,799 I126T possibly damaging Het
Pdgfra G T 5: 75,177,691 L535F probably damaging Het
Pkn2 A T 3: 142,829,317 I212K possibly damaging Het
Slc5a9 T A 4: 111,898,636 T22S probably benign Het
Slitrk1 A G 14: 108,913,018 L87S probably damaging Het
Spert A G 14: 75,584,111 F16S probably damaging Het
Syne2 C A 12: 76,087,815 R29S probably damaging Het
Zc3h12b C A X: 95,927,115 F551L probably damaging Het
Zfp664 C A 5: 124,886,188 C215* probably null Het
Other mutations in Dixdc1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Dixdc1 APN 9 50667733 missense probably damaging 0.98
IGL01923:Dixdc1 APN 9 50695503 missense possibly damaging 0.87
IGL01933:Dixdc1 APN 9 50703258 nonsense probably null
IGL02074:Dixdc1 APN 9 50702017 missense probably benign 0.00
IGL02364:Dixdc1 APN 9 50682631 splice site probably benign
R0230:Dixdc1 UTSW 9 50695507 missense possibly damaging 0.80
R0401:Dixdc1 UTSW 9 50693674 missense possibly damaging 0.54
R0410:Dixdc1 UTSW 9 50684853 missense probably damaging 1.00
R1028:Dixdc1 UTSW 9 50703246 missense probably benign 0.02
R1083:Dixdc1 UTSW 9 50676993 intron probably benign
R1672:Dixdc1 UTSW 9 50689864 missense probably damaging 1.00
R1752:Dixdc1 UTSW 9 50682550 missense probably benign
R2213:Dixdc1 UTSW 9 50701945 missense probably benign 0.01
R2289:Dixdc1 UTSW 9 50683872 critical splice donor site probably null
R2939:Dixdc1 UTSW 9 50710959 missense probably damaging 0.98
R2940:Dixdc1 UTSW 9 50710959 missense probably damaging 0.98
R3081:Dixdc1 UTSW 9 50710959 missense probably damaging 0.98
R4982:Dixdc1 UTSW 9 50682602 missense possibly damaging 0.89
R5250:Dixdc1 UTSW 9 50683735 missense possibly damaging 0.88
R5581:Dixdc1 UTSW 9 50669480 missense probably damaging 1.00
R5914:Dixdc1 UTSW 9 50698588 intron probably benign
R6228:Dixdc1 UTSW 9 50703356 splice site probably null
R6346:Dixdc1 UTSW 9 50683953 missense probably damaging 1.00
R6370:Dixdc1 UTSW 9 50682223 intron probably null
R7036:Dixdc1 UTSW 9 50682564 missense probably benign 0.03
R7074:Dixdc1 UTSW 9 50689914 missense possibly damaging 0.83
R7361:Dixdc1 UTSW 9 50688653 missense probably damaging 0.99
R7734:Dixdc1 UTSW 9 50701968 missense probably damaging 1.00
RF016:Dixdc1 UTSW 9 50693641 missense probably benign
Posted On2013-12-09