Incidental Mutation 'R1406:Dctn4'
| ID |
160403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dctn4
|
| Ensembl Gene |
ENSMUSG00000024603 |
| Gene Name |
dynactin 4 |
| Synonyms |
C130039E17Rik, 4930547K17Rik, 1110001K06Rik, p62 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
60659257-60691838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 60689402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 431
(D431E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153008
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025505]
[ENSMUST00000025506]
[ENSMUST00000223984]
|
| AlphaFold |
Q8CBY8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025505
AA Change: D424E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000025505
Gene: ENSMUSG00000024603
AA Change: D424E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Dynactin_p62
|
23 |
172 |
4.8e-24 |
PFAM |
|
Pfam:Dynactin_p62
|
125 |
378 |
8e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025506
|
| SMART Domains |
Protein: ENSMUSP00000025506
Gene: ENSMUSG00000024604
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C3H1
|
159 |
185 |
8.15e-6 |
SMART |
|
RRM
|
233 |
301 |
7.94e-18 |
SMART |
|
low complexity region
|
325 |
345 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160020
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161544
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223984
AA Change: D431E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224671
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.2%
- 10x: 92.2%
- 20x: 76.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,750,189 (GRCm39) |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 33,794,999 (GRCm39) |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,405,301 (GRCm39) |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,034,304 (GRCm39) |
G84C |
probably damaging |
Het |
| BC035044 |
A |
T |
6: 128,862,047 (GRCm39) |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,606,332 (GRCm39) |
F303L |
probably benign |
Het |
| Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 121,837,349 (GRCm39) |
R371Q |
probably damaging |
Het |
| Dhx40 |
T |
C |
11: 86,688,571 (GRCm39) |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,340,684 (GRCm39) |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,415,398 (GRCm39) |
N213K |
possibly damaging |
Het |
| Gm17535 |
A |
G |
9: 3,035,804 (GRCm39) |
Y224C |
probably null |
Het |
| Itch |
A |
G |
2: 155,048,274 (GRCm39) |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,219,838 (GRCm39) |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 36,164,424 (GRCm39) |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,406 (GRCm39) |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,719,495 (GRCm39) |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,944,702 (GRCm39) |
V554A |
probably benign |
Het |
| Or10z1 |
T |
A |
1: 174,078,427 (GRCm39) |
E22V |
possibly damaging |
Het |
| Or13c7c |
C |
T |
4: 43,835,582 (GRCm39) |
V303M |
possibly damaging |
Het |
| Or4f57 |
A |
G |
2: 111,790,926 (GRCm39) |
V164A |
probably benign |
Het |
| Pask |
A |
G |
1: 93,249,373 (GRCm39) |
Y676H |
probably benign |
Het |
| Pcare |
T |
C |
17: 72,056,156 (GRCm39) |
N1174D |
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,426,637 (GRCm39) |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,144 (GRCm39) |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,658,236 (GRCm39) |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,759,072 (GRCm39) |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,501,767 (GRCm39) |
|
probably null |
Het |
| Slc7a2 |
G |
T |
8: 41,358,622 (GRCm39) |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,217,657 (GRCm39) |
M153V |
probably benign |
Het |
| Sp110 |
T |
G |
1: 85,506,800 (GRCm39) |
E421A |
probably benign |
Het |
| Stk4 |
C |
T |
2: 163,942,448 (GRCm39) |
T360M |
probably benign |
Het |
| Ush1c |
A |
C |
7: 45,874,965 (GRCm39) |
|
probably null |
Het |
| Vmn2r8 |
C |
T |
5: 108,950,234 (GRCm39) |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,832,744 (GRCm39) |
T554M |
probably damaging |
Het |
|
| Other mutations in Dctn4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01939:Dctn4
|
APN |
18 |
60,677,202 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0040:Dctn4
|
UTSW |
18 |
60,677,114 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1406:Dctn4
|
UTSW |
18 |
60,689,402 (GRCm39) |
missense |
probably benign |
|
|
R1464:Dctn4
|
UTSW |
18 |
60,671,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1464:Dctn4
|
UTSW |
18 |
60,671,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1785:Dctn4
|
UTSW |
18 |
60,679,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1786:Dctn4
|
UTSW |
18 |
60,679,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2035:Dctn4
|
UTSW |
18 |
60,671,489 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2064:Dctn4
|
UTSW |
18 |
60,671,349 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4020:Dctn4
|
UTSW |
18 |
60,671,329 (GRCm39) |
splice site |
probably benign |
|
|
R4748:Dctn4
|
UTSW |
18 |
60,683,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4786:Dctn4
|
UTSW |
18 |
60,688,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Dctn4
|
UTSW |
18 |
60,689,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5034:Dctn4
|
UTSW |
18 |
60,685,956 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5110:Dctn4
|
UTSW |
18 |
60,679,387 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6210:Dctn4
|
UTSW |
18 |
60,679,865 (GRCm39) |
nonsense |
probably null |
|
|
R7836:Dctn4
|
UTSW |
18 |
60,679,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8221:Dctn4
|
UTSW |
18 |
60,689,401 (GRCm39) |
missense |
probably benign |
|
|
R8261:Dctn4
|
UTSW |
18 |
60,659,343 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8299:Dctn4
|
UTSW |
18 |
60,678,872 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9024:Dctn4
|
UTSW |
18 |
60,678,894 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9066:Dctn4
|
UTSW |
18 |
60,659,387 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Dctn4
|
UTSW |
18 |
60,659,304 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9268:Dctn4
|
UTSW |
18 |
60,659,304 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACGACTGGGAGACTGTTGGTTC -3'
(R):5'- GCCATGCTGTTACTCAATGTGCAAG -3'
Sequencing Primer
(F):5'- ACTGTTGGTTCCGTTGACTTC -3'
(R):5'- CCTCCACAGGATTCAGTAGTGATG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation