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)
|
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
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 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
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 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
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: 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |