Incidental Mutation 'R6370:Dixdc1'
| ID |
513481 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dixdc1
|
| Ensembl Gene |
ENSMUSG00000032064 |
| Gene Name |
DIX domain containing 1 |
| Synonyms |
Ccd1, 4930563F16Rik |
| MMRRC Submission |
044520-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6370 (G1)
|
| Quality Score |
129.008 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 50593523 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034566]
[ENSMUST00000117646]
[ENSMUST00000120622]
[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: 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: 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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.1%
|
| Validation Efficiency |
95% (54/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb6 |
A |
G |
2: 30,717,024 (GRCm39) |
V67A |
probably damaging |
Het |
| Atic |
T |
A |
1: 71,617,819 (GRCm39) |
F590I |
probably damaging |
Het |
| Atxn10 |
T |
C |
15: 85,277,586 (GRCm39) |
F351S |
probably damaging |
Het |
| Bcl2l13 |
A |
G |
6: 120,842,583 (GRCm39) |
N92S |
probably benign |
Het |
| Carm1 |
G |
T |
9: 21,498,815 (GRCm39) |
A518S |
probably benign |
Het |
| Ccar1 |
C |
T |
10: 62,600,308 (GRCm39) |
R541H |
probably damaging |
Het |
| Cfhr2 |
A |
T |
1: 139,750,065 (GRCm39) |
L96Q |
probably damaging |
Het |
| Chrnb4 |
A |
G |
9: 54,942,143 (GRCm39) |
L377S |
probably benign |
Het |
| Clcn3 |
A |
G |
8: 61,376,058 (GRCm39) |
Y639H |
probably damaging |
Het |
| Cngb1 |
C |
T |
8: 95,991,050 (GRCm39) |
M717I |
probably benign |
Het |
| Ctcf |
T |
C |
8: 106,390,852 (GRCm39) |
M153T |
probably benign |
Het |
| Cyp2b19 |
T |
C |
7: 26,462,783 (GRCm39) |
S222P |
probably benign |
Het |
| Entpd2 |
G |
A |
2: 25,287,429 (GRCm39) |
G47S |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,405,943 (GRCm39) |
M1158T |
possibly damaging |
Het |
| Faah |
T |
C |
4: 115,860,253 (GRCm39) |
D333G |
probably damaging |
Het |
| Foxred2 |
T |
A |
15: 77,827,506 (GRCm39) |
T618S |
probably benign |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gpx5 |
A |
T |
13: 21,472,872 (GRCm39) |
|
probably null |
Het |
| Gtdc1 |
A |
G |
2: 44,646,334 (GRCm39) |
V98A |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,333,368 (GRCm39) |
I312T |
probably damaging |
Het |
| Krtap21-1 |
T |
C |
16: 89,200,519 (GRCm39) |
Y41C |
unknown |
Het |
| Larp6 |
A |
G |
9: 60,644,646 (GRCm39) |
E262G |
probably damaging |
Het |
| Lrrn1 |
A |
G |
6: 107,546,185 (GRCm39) |
Y661C |
probably damaging |
Het |
| Lsm14a |
A |
G |
7: 34,056,906 (GRCm39) |
V244A |
probably benign |
Het |
| Mfrp |
T |
C |
9: 44,017,558 (GRCm39) |
C517R |
probably damaging |
Het |
| Mtarc1 |
T |
C |
1: 184,527,689 (GRCm39) |
D257G |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,907,825 (GRCm39) |
S1145P |
probably benign |
Het |
| Nosip |
G |
T |
7: 44,726,164 (GRCm39) |
|
probably null |
Het |
| Or4c100 |
T |
A |
2: 88,329,712 (GRCm39) |
C94* |
probably null |
Het |
| Or51f2 |
A |
T |
7: 102,526,377 (GRCm39) |
T17S |
probably benign |
Het |
| Or52n1 |
T |
C |
7: 104,383,124 (GRCm39) |
K149R |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,477,543 (GRCm39) |
S112P |
probably damaging |
Het |
| Pik3cb |
A |
T |
9: 98,922,987 (GRCm39) |
I1015K |
probably damaging |
Het |
| Pomt2 |
A |
G |
12: 87,155,973 (GRCm39) |
W818R |
probably damaging |
Het |
| Ptpn21 |
A |
T |
12: 98,655,293 (GRCm39) |
M558K |
possibly damaging |
Het |
| Rnf213 |
T |
A |
11: 119,367,904 (GRCm39) |
N4647K |
probably damaging |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Rxrg |
T |
C |
1: 167,462,006 (GRCm39) |
V227A |
probably damaging |
Het |
| Satb1 |
A |
T |
17: 52,089,825 (GRCm39) |
S341T |
possibly damaging |
Het |
| Skint5 |
T |
G |
4: 113,471,307 (GRCm39) |
Q983P |
unknown |
Het |
| Slc6a18 |
G |
A |
13: 73,816,278 (GRCm39) |
T367I |
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,277,483 (GRCm39) |
L344P |
probably damaging |
Het |
| Slc7a6 |
T |
A |
8: 106,922,069 (GRCm39) |
F399I |
probably benign |
Het |
| St3gal1 |
A |
G |
15: 66,983,195 (GRCm39) |
V187A |
possibly damaging |
Het |
| Sugt1 |
T |
C |
14: 79,847,774 (GRCm39) |
V208A |
probably benign |
Het |
| Syt3 |
A |
G |
7: 44,045,107 (GRCm39) |
K480E |
probably damaging |
Het |
| Thop1 |
C |
T |
10: 80,913,817 (GRCm39) |
T186I |
probably benign |
Het |
| Trim55 |
G |
A |
3: 19,745,650 (GRCm39) |
E509K |
possibly damaging |
Het |
| Upf2 |
A |
G |
2: 5,980,821 (GRCm39) |
N469S |
unknown |
Het |
| Usp24 |
G |
T |
4: 106,237,718 (GRCm39) |
K1125N |
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,391 (GRCm39) |
D494E |
probably benign |
Het |
| Vmn2r51 |
T |
C |
7: 9,832,143 (GRCm39) |
K481R |
probably damaging |
Het |
| Vps16 |
C |
A |
2: 130,285,304 (GRCm39) |
A787D |
probably damaging |
Het |
| Washc4 |
C |
T |
10: 83,407,226 (GRCm39) |
H488Y |
possibly damaging |
Het |
| Wdfy4 |
C |
A |
14: 32,790,807 (GRCm39) |
A2053S |
probably benign |
Het |
| Zfp74 |
A |
T |
7: 29,631,835 (GRCm39) |
D136E |
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 |
|
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 |
|
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'- ACATCACGGTGTTACCTTCC -3'
(R):5'- CACATGTGAGGCATTTAGTATCC -3'
Sequencing Primer
(F):5'- ATCACGGTGTTACCTTCCTTTCTTG -3'
(R):5'- CAGAGAACTCAAGCCTCT -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation