Incidental Mutation 'IGL01933:Dixdc1'
ID 180508
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 # IGL01933
Quality Score
Status
Chromosome 9
Chromosomal Location 50574052-50650817 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 50614558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 163 (R163*)
Ref Sequence ENSEMBL: ENSMUSP00000113089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034566] [ENSMUST00000117646] [ENSMUST00000121634]
AlphaFold Q80Y83
Predicted Effect probably null
Transcript: ENSMUST00000034566
AA Change: R164*
SMART Domains Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: R164*

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 null
Transcript: ENSMUST00000117646
AA Change: R138*
SMART Domains Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: R138*

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 null
Transcript: ENSMUST00000121634
AA Change: R163*
SMART Domains Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: R163*

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
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,164,650 (GRCm39) V575F possibly damaging Het
Abca2 T A 2: 25,334,123 (GRCm39) V1800E probably damaging Het
Acacb C T 5: 114,322,251 (GRCm39) probably benign Het
Adam34 C A 8: 44,104,569 (GRCm39) G359W probably damaging Het
Ankrd42 G A 7: 92,254,493 (GRCm39) T372I probably benign Het
Apc2 A G 10: 80,147,574 (GRCm39) D847G probably damaging Het
Arap3 T A 18: 38,111,506 (GRCm39) T1137S possibly damaging Het
Atp10b A C 11: 43,085,457 (GRCm39) T279P probably damaging Het
Bmp2 T A 2: 133,396,578 (GRCm39) M78K possibly damaging Het
Ccdc61 T G 7: 18,626,483 (GRCm39) M369L probably benign Het
Cep78 A T 19: 15,933,304 (GRCm39) I758N probably benign Het
Ces2a A G 8: 105,468,047 (GRCm39) *526W probably null Het
Cgnl1 C T 9: 71,552,765 (GRCm39) probably benign Het
Clec14a A G 12: 58,315,104 (GRCm39) Y173H probably damaging Het
Cntn4 G A 6: 106,671,345 (GRCm39) S976N probably damaging Het
Col6a4 G A 9: 105,937,313 (GRCm39) T1401I probably benign Het
D5Ertd579e T C 5: 36,773,100 (GRCm39) T432A probably benign Het
Dmxl1 C A 18: 50,010,852 (GRCm39) T1003K probably benign Het
Dnah1 G A 14: 31,032,872 (GRCm39) R388W probably benign Het
Eci3 C T 13: 35,132,772 (GRCm39) A202T probably damaging Het
Egr2 T C 10: 67,376,024 (GRCm39) S220P probably damaging Het
Fntb C T 12: 76,966,880 (GRCm39) P405S probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm26602 C A 10: 79,746,955 (GRCm39) R236L probably benign Het
Hao2 T C 3: 98,787,648 (GRCm39) probably benign Het
Irgm2 A T 11: 58,110,783 (GRCm39) N170I possibly damaging Het
Klhl20 G A 1: 160,934,357 (GRCm39) R221W probably damaging Het
Kmt2b A G 7: 30,268,939 (GRCm39) probably null Het
Lrrc46 C T 11: 96,926,354 (GRCm39) E181K probably benign Het
Lztr1 T A 16: 17,338,455 (GRCm39) V226E probably damaging Het
Myh9 G T 15: 77,665,418 (GRCm39) D684E probably benign Het
Myo7a T C 7: 97,732,349 (GRCm39) T713A probably damaging Het
Nrap G T 19: 56,377,250 (GRCm39) N62K probably damaging Het
Or51a10 T C 7: 103,699,021 (GRCm39) Y180C probably damaging Het
Or5an1 A T 19: 12,261,069 (GRCm39) Y219F probably damaging Het
Osbp2 T C 11: 3,662,016 (GRCm39) D708G probably damaging Het
Pcnx2 G A 8: 126,488,393 (GRCm39) P1717L probably damaging Het
Pex1 A G 5: 3,683,789 (GRCm39) D1095G probably damaging Het
Ptpn3 T C 4: 57,197,576 (GRCm39) H771R probably benign Het
R3hcc1l G A 19: 42,551,389 (GRCm39) A129T probably damaging Het
Rbm15 G A 3: 107,238,419 (GRCm39) R660W probably damaging Het
Recql C T 6: 142,310,364 (GRCm39) V489M probably benign Het
Sash1 A T 10: 8,626,897 (GRCm39) S162R probably damaging Het
Sec11a T C 7: 80,584,810 (GRCm39) I42M probably benign Het
Slc25a23 G A 17: 57,359,813 (GRCm39) Q61* probably null Het
Son A T 16: 91,454,903 (GRCm39) M1217L probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Srgap2 T C 1: 131,339,593 (GRCm39) N123S probably damaging Het
Ssh1 T C 5: 114,088,441 (GRCm39) probably benign Het
St13 T C 15: 81,273,899 (GRCm39) probably null Het
St3gal3 A T 4: 117,889,072 (GRCm39) D57E probably damaging Het
Stk4 C T 2: 163,940,505 (GRCm39) probably benign Het
Tln1 T A 4: 43,539,508 (GRCm39) T1605S probably benign Het
Tln1 T C 4: 43,555,894 (GRCm39) T107A possibly damaging Het
Tmem135 G T 7: 88,793,065 (GRCm39) probably benign Het
Tmtc3 A G 10: 100,283,467 (GRCm39) M696T probably benign Het
Trbv28 T A 6: 41,248,761 (GRCm39) L97Q probably damaging Het
Trpc4ap A T 2: 155,481,455 (GRCm39) F534I possibly damaging Het
Trpm8 T C 1: 88,254,127 (GRCm39) Y117H probably damaging Het
Zfp608 T C 18: 55,120,871 (GRCm39) T239A probably benign Het
Zmym5 T G 14: 57,041,617 (GRCm39) H162P 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
IGL02074:Dixdc1 APN 9 50,613,317 (GRCm39) missense probably benign 0.00
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