Incidental Mutation 'R2940:Dixdc1'
ID |
255139 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dixdc1
|
Ensembl Gene |
ENSMUSG00000032064 |
Gene Name |
DIX domain containing 1 |
Synonyms |
Ccd1, 4930563F16Rik |
MMRRC Submission |
040517-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2940 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 50622259 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 25
(A25V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113907
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034566]
[ENSMUST00000117093]
[ENSMUST00000117646]
[ENSMUST00000118707]
[ENSMUST00000121634]
|
AlphaFold |
Q80Y83 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034566
AA Change: A25V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000034566 Gene: ENSMUSG00000032064 AA Change: A25V
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 damaging
Transcript: ENSMUST00000117093
AA Change: A24V
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000112654 Gene: ENSMUSG00000032064 AA Change: A24V
Domain | Start | End | E-Value | Type |
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: A25V
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112431 Gene: ENSMUSG00000032064 AA Change: A25V
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 damaging
Transcript: ENSMUST00000118707
AA Change: A25V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113907 Gene: ENSMUSG00000032064 AA Change: A25V
Domain | Start | End | E-Value | Type |
Pfam:CH
|
23 |
89 |
2.3e-9 |
PFAM |
Pfam:CAMSAP_CH
|
31 |
63 |
8.1e-7 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121634
AA Change: A24V
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000113089 Gene: ENSMUSG00000032064 AA Change: A24V
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 |
|
Meta Mutation Damage Score |
0.3400 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy2 |
A |
G |
13: 68,878,424 (GRCm39) |
W405R |
probably damaging |
Het |
Apc |
G |
A |
18: 34,409,723 (GRCm39) |
R221H |
probably damaging |
Het |
Armcx6 |
A |
T |
X: 133,650,625 (GRCm39) |
W69R |
probably damaging |
Het |
Bltp1 |
A |
G |
3: 37,012,954 (GRCm39) |
D1878G |
probably damaging |
Het |
Carm1 |
C |
A |
9: 21,490,692 (GRCm39) |
|
probably null |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
T |
C |
8: 95,978,735 (GRCm39) |
I573V |
probably benign |
Het |
Crybg2 |
A |
G |
4: 133,809,745 (GRCm39) |
H1517R |
possibly damaging |
Het |
Dmap1 |
G |
A |
4: 117,533,202 (GRCm39) |
T284M |
possibly damaging |
Het |
Dock6 |
A |
G |
9: 21,750,496 (GRCm39) |
F473L |
possibly damaging |
Het |
Eif3a |
T |
C |
19: 60,762,115 (GRCm39) |
T487A |
probably benign |
Het |
Faiml |
A |
G |
9: 99,114,527 (GRCm39) |
C121R |
probably damaging |
Het |
Fam180a |
A |
T |
6: 35,290,564 (GRCm39) |
S140T |
possibly damaging |
Het |
Fibcd1 |
T |
C |
2: 31,707,276 (GRCm39) |
Y327C |
probably damaging |
Het |
Haghl |
A |
G |
17: 26,004,060 (GRCm39) |
V8A |
possibly damaging |
Het |
Igfbp1 |
A |
G |
11: 7,151,970 (GRCm39) |
T258A |
probably benign |
Het |
Isl1 |
T |
C |
13: 116,444,835 (GRCm39) |
T65A |
possibly damaging |
Het |
Khdrbs3 |
T |
A |
15: 68,921,239 (GRCm39) |
D185E |
probably damaging |
Het |
Klc1 |
C |
T |
12: 111,772,451 (GRCm39) |
R157C |
possibly damaging |
Het |
Lamc3 |
A |
G |
2: 31,830,714 (GRCm39) |
S1484G |
probably benign |
Het |
Lman1 |
G |
T |
18: 66,117,344 (GRCm39) |
P466Q |
possibly damaging |
Het |
Map3k4 |
C |
T |
17: 12,480,157 (GRCm39) |
E682K |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nbea |
C |
G |
3: 55,842,045 (GRCm39) |
E1879Q |
probably benign |
Het |
Or8b12i |
C |
A |
9: 20,082,061 (GRCm39) |
G269W |
probably benign |
Het |
Or8g34 |
G |
A |
9: 39,373,226 (GRCm39) |
M166I |
probably benign |
Het |
Pigc |
T |
C |
1: 161,798,239 (GRCm39) |
Y74H |
possibly damaging |
Het |
Plek |
C |
T |
11: 16,942,887 (GRCm39) |
|
probably null |
Het |
Pramel28 |
A |
G |
4: 143,693,247 (GRCm39) |
V77A |
probably benign |
Het |
Rasgrf1 |
C |
T |
9: 89,873,767 (GRCm39) |
A692V |
possibly damaging |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rnf25 |
A |
G |
1: 74,635,047 (GRCm39) |
V135A |
possibly damaging |
Het |
Senp6 |
G |
A |
9: 80,051,124 (GRCm39) |
A1134T |
probably benign |
Het |
Sh3rf2 |
G |
A |
18: 42,244,505 (GRCm39) |
|
probably null |
Het |
Sh3tc2 |
A |
G |
18: 62,122,757 (GRCm39) |
D506G |
probably damaging |
Het |
Slc13a1 |
T |
A |
6: 24,090,779 (GRCm39) |
I547F |
possibly damaging |
Het |
Slc26a6 |
G |
A |
9: 108,734,236 (GRCm39) |
V206I |
probably benign |
Het |
Smc1a |
T |
A |
X: 150,816,695 (GRCm39) |
Y516N |
probably damaging |
Het |
Sorbs1 |
T |
C |
19: 40,362,015 (GRCm39) |
D123G |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,289,290 (GRCm39) |
M425K |
possibly damaging |
Het |
Trpv1 |
A |
G |
11: 73,145,675 (GRCm39) |
K403R |
probably damaging |
Het |
Ttc39d |
A |
G |
17: 80,524,982 (GRCm39) |
Y547C |
probably damaging |
Het |
Tubb6 |
A |
G |
18: 67,534,994 (GRCm39) |
N298D |
probably damaging |
Het |
Xpo7 |
G |
T |
14: 70,904,577 (GRCm39) |
L1020I |
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,904,576 (GRCm39) |
L1020Q |
probably damaging |
Het |
Zswim4 |
A |
T |
8: 84,950,377 (GRCm39) |
L611Q |
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 |
|
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 |
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'- GAACAACCTGCTTTGAAGGG -3'
(R):5'- CCTGCGTGTCAACCTAAAGC -3'
Sequencing Primer
(F):5'- CAACCTGCTTTGAAGGGCGAATG -3'
(R):5'- AAGCTAGGGATTTTGGAACATGCTC -3'
|
Posted On |
2014-12-29 |