Incidental Mutation 'R2289:Dixdc1'
ID |
244216 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dixdc1
|
Ensembl Gene |
ENSMUSG00000032064 |
Gene Name |
DIX domain containing 1 |
Synonyms |
Ccd1, 4930563F16Rik |
MMRRC Submission |
040288-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2289 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 50595172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113089
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034566]
[ENSMUST00000034566]
[ENSMUST00000117646]
[ENSMUST00000117646]
[ENSMUST00000120622]
[ENSMUST00000120622]
[ENSMUST00000121634]
[ENSMUST00000121634]
|
AlphaFold |
Q80Y83 |
Predicted Effect |
probably null
Transcript: ENSMUST00000034566
|
SMART Domains |
Protein: ENSMUSP00000034566 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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: ENSMUST00000034566
|
SMART Domains |
Protein: ENSMUSP00000034566 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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
|
SMART Domains |
Protein: ENSMUSP00000112431 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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: ENSMUST00000117646
|
SMART Domains |
Protein: ENSMUSP00000112431 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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 |
noncoding transcript
Transcript: ENSMUST00000119449
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120622
|
SMART Domains |
Protein: ENSMUSP00000113934 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
coiled coil region
|
34 |
66 |
N/A |
INTRINSIC |
coiled coil region
|
87 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000120622
|
SMART Domains |
Protein: ENSMUSP00000113934 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
coiled coil region
|
34 |
66 |
N/A |
INTRINSIC |
coiled coil region
|
87 |
220 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000121634
|
SMART Domains |
Protein: ENSMUSP00000113089 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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 |
probably null
Transcript: ENSMUST00000121634
|
SMART Domains |
Protein: ENSMUSP00000113089 Gene: ENSMUSG00000032064
Domain | Start | End | E-Value | Type |
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: ENSMUST00000124424
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141919
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp12a |
G |
A |
14: 56,610,719 (GRCm39) |
V288I |
possibly damaging |
Het |
Cntn6 |
C |
T |
6: 104,545,989 (GRCm39) |
|
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cplx3 |
T |
A |
9: 57,520,941 (GRCm39) |
E220V |
possibly damaging |
Het |
Cracdl |
T |
C |
1: 37,651,342 (GRCm39) |
K1175R |
possibly damaging |
Het |
Dcaf10 |
T |
A |
4: 45,359,816 (GRCm39) |
W244R |
probably damaging |
Het |
Dlg4 |
T |
A |
11: 69,917,752 (GRCm39) |
Y12N |
probably damaging |
Het |
Fsd1l |
T |
A |
4: 53,696,931 (GRCm39) |
Y442N |
possibly damaging |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Hcrt |
C |
A |
11: 100,652,745 (GRCm39) |
A90S |
probably damaging |
Het |
Itga6 |
T |
A |
2: 71,648,873 (GRCm39) |
V119D |
probably damaging |
Het |
Klrh1 |
T |
C |
6: 129,745,140 (GRCm39) |
N152S |
probably null |
Het |
Lmtk2 |
T |
A |
5: 144,112,924 (GRCm39) |
S1215T |
possibly damaging |
Het |
Loxl2 |
G |
A |
14: 69,930,524 (GRCm39) |
E763K |
probably benign |
Het |
Mcrip1 |
T |
C |
11: 120,435,530 (GRCm39) |
E35G |
probably damaging |
Het |
Nle1 |
T |
A |
11: 82,793,879 (GRCm39) |
I386F |
probably benign |
Het |
Nqo1 |
T |
C |
8: 108,119,630 (GRCm39) |
I8V |
probably benign |
Het |
Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
Pax8 |
T |
C |
2: 24,330,752 (GRCm39) |
D227G |
probably benign |
Het |
Phf14 |
T |
C |
6: 12,047,845 (GRCm39) |
C885R |
probably damaging |
Het |
Rhobtb3 |
A |
C |
13: 76,059,046 (GRCm39) |
C251G |
probably damaging |
Het |
Samd13 |
C |
T |
3: 146,368,446 (GRCm39) |
A49T |
probably damaging |
Het |
Snrpa1 |
T |
A |
7: 65,713,586 (GRCm39) |
V101E |
probably benign |
Het |
Styx |
A |
G |
14: 45,592,404 (GRCm39) |
E20G |
possibly damaging |
Het |
Thoc1 |
T |
C |
18: 9,984,488 (GRCm39) |
Y325H |
probably damaging |
Het |
Tmem163 |
T |
A |
1: 127,423,477 (GRCm39) |
T262S |
possibly damaging |
Het |
Tsr1 |
T |
G |
11: 74,790,111 (GRCm39) |
L102R |
probably damaging |
Het |
Vash1 |
G |
C |
12: 86,726,952 (GRCm39) |
R64P |
probably damaging |
Het |
Vps13b |
A |
C |
15: 35,572,251 (GRCm39) |
D956A |
probably damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,120 (GRCm39) |
G199S |
probably damaging |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zfp870 |
A |
T |
17: 33,102,334 (GRCm39) |
S333T |
probably benign |
Het |
Zranb1 |
T |
C |
7: 132,551,768 (GRCm39) |
Y140H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,789 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Dixdc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAGTTCTAGCATTCTGGGTTACC -3'
(R):5'- ACGGTATGGAAAGCCTTCTG -3'
Sequencing Primer
(F):5'- AGCATTCTGGGTTACCTCATCTG -3'
(R):5'- GGGGCCCTTCTAGGTTACATTACAAG -3'
|
Posted On |
2014-10-30 |