Incidental Mutation 'R6346:Dixdc1'
| ID |
513958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dixdc1
|
| Ensembl Gene |
ENSMUSG00000032064 |
| Gene Name |
DIX domain containing 1 |
| Synonyms |
Ccd1, 4930563F16Rik |
| MMRRC Submission |
044500-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 50595253 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 183
(Q183R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113934
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034566]
[ENSMUST00000117646]
[ENSMUST00000120622]
[ENSMUST00000121634]
|
| AlphaFold |
Q80Y83 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034566
AA Change: Q455R
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: Q455R
| 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 |
possibly damaging
Transcript: ENSMUST00000117646
AA Change: Q429R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: Q429R
| 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 damaging
Transcript: ENSMUST00000120622
AA Change: Q183R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113934
Gene: ENSMUSG00000032064
AA Change: Q183R
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
34 |
66 |
N/A |
INTRINSIC |
|
coiled coil region
|
87 |
220 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121634
AA Change: Q454R
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: Q454R
| 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
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.6%
|
| Validation Efficiency |
98% (41/42) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
C |
T |
7: 75,335,002 (GRCm39) |
S455L |
probably damaging |
Het |
| Apbb1ip |
T |
G |
2: 22,757,005 (GRCm39) |
|
probably null |
Het |
| Arhgap18 |
A |
T |
10: 26,722,061 (GRCm39) |
I11F |
probably damaging |
Het |
| Arl14epl |
A |
T |
18: 47,059,409 (GRCm39) |
N8I |
possibly damaging |
Het |
| Atp4a |
T |
A |
7: 30,414,781 (GRCm39) |
I190N |
possibly damaging |
Het |
| Bfar |
T |
C |
16: 13,519,997 (GRCm39) |
F285S |
probably damaging |
Het |
| Carf |
C |
T |
1: 60,180,699 (GRCm39) |
Q409* |
probably null |
Het |
| Cd244a |
T |
C |
1: 171,404,889 (GRCm39) |
V247A |
probably damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,803,326 (GRCm39) |
I244K |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,228,698 (GRCm39) |
E2130G |
probably damaging |
Het |
| Cyp2b23 |
T |
G |
7: 26,381,150 (GRCm39) |
H69P |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,553,573 (GRCm39) |
|
probably null |
Het |
| Fam20c |
T |
C |
5: 138,752,450 (GRCm39) |
F279S |
probably damaging |
Het |
| Hcn4 |
C |
T |
9: 58,766,327 (GRCm39) |
T665I |
unknown |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Kdm7a |
A |
T |
6: 39,128,145 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
A |
C |
11: 78,910,490 (GRCm39) |
L814R |
possibly damaging |
Het |
| Lmnb1 |
A |
G |
18: 56,876,310 (GRCm39) |
I473V |
probably benign |
Het |
| Mllt3 |
T |
C |
4: 87,759,445 (GRCm39) |
K201R |
probably damaging |
Het |
| Myo1b |
C |
T |
1: 51,823,666 (GRCm39) |
C413Y |
probably damaging |
Het |
| Myom3 |
A |
T |
4: 135,533,362 (GRCm39) |
N1185I |
probably benign |
Het |
| Nrde2 |
A |
G |
12: 100,098,565 (GRCm39) |
S701P |
probably benign |
Het |
| Ntn4 |
A |
T |
10: 93,480,723 (GRCm39) |
D112V |
probably damaging |
Het |
| Nup43 |
T |
A |
10: 7,550,826 (GRCm39) |
V232D |
probably damaging |
Het |
| Pcdha6 |
G |
A |
18: 37,101,113 (GRCm39) |
C102Y |
probably damaging |
Het |
| Pcdhgb8 |
T |
C |
18: 37,895,131 (GRCm39) |
L67P |
probably damaging |
Het |
| Pkd1l3 |
A |
G |
8: 110,358,016 (GRCm39) |
H836R |
probably damaging |
Het |
| Plekha1 |
T |
A |
7: 130,479,512 (GRCm39) |
I10N |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,540,084 (GRCm39) |
T161A |
possibly damaging |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Rsf1 |
A |
AGGGCGACGG |
7: 97,229,111 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
C |
T |
13: 51,833,923 (GRCm39) |
H688Y |
probably damaging |
Het |
| Senp5 |
A |
G |
16: 31,802,665 (GRCm39) |
Y508H |
probably damaging |
Het |
| Shc3 |
T |
A |
13: 51,605,651 (GRCm39) |
T210S |
possibly damaging |
Het |
| Slc27a2 |
G |
A |
2: 126,429,800 (GRCm39) |
V467M |
probably damaging |
Het |
| Slc27a5 |
T |
A |
7: 12,724,899 (GRCm39) |
E487V |
possibly damaging |
Het |
| Snx1 |
T |
C |
9: 66,001,930 (GRCm39) |
T298A |
possibly damaging |
Het |
| Trir |
A |
G |
8: 85,753,643 (GRCm39) |
D39G |
possibly damaging |
Het |
| Ubd |
C |
T |
17: 37,506,242 (GRCm39) |
Q43* |
probably null |
Het |
| Ube2o |
T |
C |
11: 116,432,194 (GRCm39) |
E924G |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,659,578 (GRCm39) |
I1650V |
possibly damaging |
Het |
| Xirp2 |
C |
A |
2: 67,346,425 (GRCm39) |
R2889S |
probably benign |
Het |
| Zfp804b |
T |
C |
5: 6,820,534 (GRCm39) |
E843G |
probably benign |
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 |
|
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 |
|
|
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'- TGAGCCAGAAGGACATCTTTC -3'
(R):5'- TGTAGGCAGTTTGCTCCTTC -3'
Sequencing Primer
(F):5'- AGAAGGACATCTTTCTGCTCTAGC -3'
(R):5'- CTTTGCTTTTCTAAGAATCCTGTGAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation