Incidental Mutation 'R8292:Dixdc1'
| ID |
638748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dixdc1
|
| Ensembl Gene |
ENSMUSG00000032064 |
| Gene Name |
DIX domain containing 1 |
| Synonyms |
Ccd1, 4930563F16Rik |
| MMRRC Submission |
067782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8292 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
50574052-50650817 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50621989 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 114
(V114A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112654
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034566]
[ENSMUST00000117093]
[ENSMUST00000117646]
[ENSMUST00000118707]
[ENSMUST00000121634]
|
| AlphaFold |
Q80Y83 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000117093
AA Change: V114A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000112654
Gene: ENSMUSG00000032064
AA Change: V114A
| 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 benign
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 |
probably benign
Transcript: ENSMUST00000118707
AA Change: V115A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000113907
Gene: ENSMUSG00000032064
AA Change: V115A
| 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 |
probably benign
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,338,555 (GRCm39) |
|
probably null |
Het |
| Akirin2 |
T |
C |
4: 34,566,007 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
A |
G |
13: 4,130,995 (GRCm39) |
D229G |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,227,194 (GRCm39) |
I1382V |
probably benign |
Het |
| Bcas3 |
C |
A |
11: 85,348,729 (GRCm39) |
A207D |
probably damaging |
Het |
| Bcl2l10 |
T |
C |
9: 75,255,160 (GRCm39) |
|
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,063,384 (GRCm39) |
T3A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,791,819 (GRCm39) |
W2594L |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,754 (GRCm39) |
H374Q |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,153,963 (GRCm39) |
T330P |
possibly damaging |
Het |
| Clcnka |
G |
A |
4: 141,125,272 (GRCm39) |
R30* |
probably null |
Het |
| Clptm1l |
A |
T |
13: 73,765,854 (GRCm39) |
H464L |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,076 (GRCm39) |
M421K |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,802,842 (GRCm39) |
S873P |
probably damaging |
Het |
| Etv6 |
T |
C |
6: 134,225,509 (GRCm39) |
C247R |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,456,350 (GRCm39) |
L11S |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,329,584 (GRCm39) |
V44M |
probably damaging |
Het |
| Get4 |
A |
G |
5: 139,248,686 (GRCm39) |
D99G |
probably null |
Het |
| Glcci1 |
G |
A |
6: 8,558,549 (GRCm39) |
R212H |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,501,351 (GRCm39) |
F280L |
probably damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,550 (GRCm39) |
N70Y |
noncoding transcript |
Het |
| Hace1 |
C |
G |
10: 45,587,557 (GRCm39) |
Y885* |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,455,288 (GRCm39) |
R644Q |
possibly damaging |
Het |
| Impg2 |
A |
T |
16: 56,080,989 (GRCm39) |
E931V |
probably damaging |
Het |
| Kif5c |
A |
T |
2: 49,625,497 (GRCm39) |
Y589F |
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,813,021 (GRCm39) |
V132E |
possibly damaging |
Het |
| Luzp1 |
T |
G |
4: 136,269,764 (GRCm39) |
D662E |
probably benign |
Het |
| Mc4r |
A |
T |
18: 66,993,082 (GRCm39) |
Y10* |
probably null |
Het |
| Mfng |
T |
C |
15: 78,657,370 (GRCm39) |
I35V |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,650,340 (GRCm39) |
I1348K |
probably benign |
Het |
| Mrgprb3 |
G |
T |
7: 48,293,255 (GRCm39) |
Q99K |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,554 (GRCm39) |
S125T |
probably damaging |
Het |
| Mrgprg |
A |
T |
7: 143,318,656 (GRCm39) |
M152K |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,363,000 (GRCm39) |
I2104L |
unknown |
Het |
| Myom2 |
A |
G |
8: 15,182,888 (GRCm39) |
I1442V |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,907,995 (GRCm39) |
C385R |
probably damaging |
Het |
| Nid2 |
T |
G |
14: 19,818,346 (GRCm39) |
V280G |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,643,086 (GRCm39) |
M490K |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,684,112 (GRCm39) |
F1643L |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,701 (GRCm39) |
G128D |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,520,127 (GRCm39) |
L595* |
probably null |
Het |
| Rbbp8 |
T |
C |
18: 11,838,769 (GRCm39) |
V150A |
probably benign |
Het |
| Rbbp9 |
T |
C |
2: 144,390,017 (GRCm39) |
T49A |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,839,930 (GRCm39) |
T973K |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,769,420 (GRCm39) |
I582F |
possibly damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,644,791 (GRCm39) |
V53D |
possibly damaging |
Het |
| Slc35f6 |
G |
T |
5: 30,813,375 (GRCm39) |
V156L |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,422 (GRCm39) |
H377R |
probably benign |
Het |
| Son |
G |
A |
16: 91,453,545 (GRCm39) |
S764N |
possibly damaging |
Het |
| Srgn |
A |
T |
10: 62,343,447 (GRCm39) |
V16D |
possibly damaging |
Het |
| Tex14 |
G |
A |
11: 87,388,664 (GRCm39) |
R297Q |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,557,142 (GRCm39) |
V1194A |
probably benign |
Het |
| Tlr6 |
A |
C |
5: 65,111,134 (GRCm39) |
L591R |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,964 (GRCm39) |
K302R |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,123 (GRCm39) |
Y555C |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,968,227 (GRCm39) |
K145N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,726,878 (GRCm39) |
Y486C |
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 |
|
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 |
|
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'- AGACACTAATTCTTCTGGTCTGC -3'
(R):5'- GATCCTGGCCTATCTCATCGAG -3'
Sequencing Primer
(F):5'- CTAGGACTAAGGAGGGCATCTCTTC -3'
(R):5'- CCTATCTCATCGAGATTGTTGGTCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation