Incidental Mutation 'R5250:Dixdc1'
| ID |
398954 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dixdc1
|
| Ensembl Gene |
ENSMUSG00000032064 |
| Gene Name |
DIX domain containing 1 |
| Synonyms |
Ccd1, 4930563F16Rik |
| MMRRC Submission |
042821-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5250 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 50595035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 230
(E230A)
|
| 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: E502A
PolyPhen 2
Score 0.577 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034566
Gene: ENSMUSG00000032064
AA Change: E502A
| 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: E476A
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112431
Gene: ENSMUSG00000032064
AA Change: E476A
| 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 |
possibly damaging
Transcript: ENSMUST00000120622
AA Change: E230A
PolyPhen 2
Score 0.882 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113934
Gene: ENSMUSG00000032064
AA Change: E230A
| 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: E501A
PolyPhen 2
Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113089
Gene: ENSMUSG00000032064
AA Change: E501A
| 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 |
0.0707 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,135,182 (GRCm39) |
K236* |
probably null |
Het |
| Adgre5 |
A |
G |
8: 84,460,069 (GRCm39) |
V109A |
probably benign |
Het |
| Adora2a |
T |
C |
10: 75,161,882 (GRCm39) |
I7T |
probably damaging |
Het |
| Ankrd6 |
A |
G |
4: 32,860,335 (GRCm39) |
V36A |
probably damaging |
Het |
| Arhgef2 |
T |
C |
3: 88,540,955 (GRCm39) |
|
probably null |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Atg2b |
G |
A |
12: 105,602,024 (GRCm39) |
R1651W |
probably damaging |
Het |
| Atp6v0a1 |
T |
A |
11: 100,933,870 (GRCm39) |
V553D |
possibly damaging |
Het |
| Bard1 |
G |
A |
1: 71,113,722 (GRCm39) |
L420F |
probably damaging |
Het |
| Bcat1 |
C |
G |
6: 144,993,165 (GRCm39) |
|
probably null |
Het |
| Bpifb5 |
A |
T |
2: 154,066,881 (GRCm39) |
N45Y |
probably benign |
Het |
| Btbd17 |
G |
T |
11: 114,682,234 (GRCm39) |
|
probably benign |
Het |
| Ccdc24 |
T |
C |
4: 117,726,826 (GRCm39) |
T296A |
possibly damaging |
Het |
| Col11a1 |
A |
G |
3: 114,010,819 (GRCm39) |
|
probably benign |
Het |
| Cspg4b |
A |
G |
13: 113,456,305 (GRCm39) |
N784D |
possibly damaging |
Het |
| Dhx38 |
A |
T |
8: 110,283,152 (GRCm39) |
V555D |
probably damaging |
Het |
| Dnah7b |
T |
G |
1: 46,412,514 (GRCm39) |
V4041G |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,334,968 (GRCm39) |
I1021L |
probably damaging |
Het |
| Fgl2 |
A |
G |
5: 21,580,521 (GRCm39) |
S288G |
possibly damaging |
Het |
| Flt4 |
T |
A |
11: 49,521,227 (GRCm39) |
I412N |
possibly damaging |
Het |
| Gabrb1 |
A |
G |
5: 72,026,922 (GRCm39) |
I141V |
possibly damaging |
Het |
| Gpc2 |
A |
G |
5: 138,277,230 (GRCm39) |
Y66H |
probably damaging |
Het |
| Hoxd3 |
C |
T |
2: 74,574,650 (GRCm39) |
Q99* |
probably null |
Het |
| Inpp5d |
T |
C |
1: 87,637,397 (GRCm39) |
V781A |
probably damaging |
Het |
| Larp4b |
T |
C |
13: 9,221,013 (GRCm39) |
|
probably benign |
Het |
| Lrrfip1 |
T |
A |
1: 91,043,618 (GRCm39) |
S674R |
possibly damaging |
Het |
| Megf6 |
A |
G |
4: 154,340,467 (GRCm39) |
T561A |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,694,259 (GRCm39) |
Q83L |
probably benign |
Het |
| Mucl2 |
T |
C |
15: 103,927,733 (GRCm39) |
N75D |
possibly damaging |
Het |
| Myh13 |
C |
T |
11: 67,218,085 (GRCm39) |
Q53* |
probably null |
Het |
| Myot |
T |
A |
18: 44,479,137 (GRCm39) |
D291E |
probably damaging |
Het |
| Nae1 |
A |
G |
8: 105,257,023 (GRCm39) |
|
probably null |
Het |
| Ncoa2 |
A |
T |
1: 13,294,913 (GRCm39) |
S2R |
probably damaging |
Het |
| Nktr |
T |
A |
9: 121,578,858 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 90,842,869 (GRCm39) |
|
probably benign |
Het |
| Or10aa3 |
T |
G |
1: 173,878,838 (GRCm39) |
F300V |
probably benign |
Het |
| Or14j4 |
A |
G |
17: 37,920,851 (GRCm39) |
S264P |
probably damaging |
Het |
| Or5an1b |
T |
C |
19: 12,299,430 (GRCm39) |
T254A |
probably benign |
Het |
| P2rx2 |
T |
C |
5: 110,489,454 (GRCm39) |
E160G |
probably damaging |
Het |
| Pcdhga11 |
A |
T |
18: 37,890,990 (GRCm39) |
D666V |
probably damaging |
Het |
| Pcm1 |
A |
T |
8: 41,765,242 (GRCm39) |
E1484D |
probably damaging |
Het |
| Pdia4 |
C |
T |
6: 47,773,619 (GRCm39) |
A577T |
possibly damaging |
Het |
| Potefam1 |
T |
G |
2: 111,058,422 (GRCm39) |
T124P |
possibly damaging |
Het |
| Ppm1e |
T |
C |
11: 87,121,744 (GRCm39) |
I738V |
probably benign |
Het |
| Ppp1r13b |
G |
T |
12: 111,811,394 (GRCm39) |
R165S |
probably benign |
Het |
| Rasgrp2 |
T |
C |
19: 6,454,343 (GRCm39) |
W129R |
probably damaging |
Het |
| Smurf2 |
A |
G |
11: 106,747,005 (GRCm39) |
|
probably null |
Het |
| Spmap1 |
C |
A |
11: 97,663,553 (GRCm39) |
W99L |
possibly damaging |
Het |
| Ubr2 |
G |
T |
17: 47,241,368 (GRCm39) |
Q1729K |
probably benign |
Het |
| Zfp260 |
T |
A |
7: 29,804,392 (GRCm39) |
H97Q |
probably damaging |
Het |
| Zfp429 |
G |
T |
13: 67,538,638 (GRCm39) |
R269S |
probably benign |
Het |
| Zfp568 |
T |
C |
7: 29,716,655 (GRCm39) |
V185A |
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 |
|
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'- TACTCAACAGAGAGGGCCAC -3'
(R):5'- TTCATTGCAGAAAGAGTTGGGG -3'
Sequencing Primer
(F):5'- CAACAGAGAGGGCCACTGTTATTTTC -3'
(R):5'- AGAAGGACCGCCTCTTTCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation