Incidental Mutation 'IGL01088:Actr6'
| ID |
52079 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Actr6
|
| Ensembl Gene |
ENSMUSG00000019948 |
| Gene Name |
ARP6 actin-related protein 6 |
| Synonyms |
CDA12, ArpX, 2010200J04Rik, Arp6 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
89547833-89568157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89561703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 148
(V148I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020109]
[ENSMUST00000220388]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020109
AA Change: V148I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: V148I
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
1 |
395 |
1.09e-110 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218442
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218568
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220059
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220388
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aspn |
G |
T |
13: 49,720,029 (GRCm39) |
K348N |
probably benign |
Het |
| C1qtnf9 |
T |
C |
14: 61,017,205 (GRCm39) |
V245A |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,625,823 (GRCm39) |
|
probably benign |
Het |
| Chd4 |
T |
C |
6: 125,099,431 (GRCm39) |
|
probably benign |
Het |
| Clcn3 |
A |
T |
8: 61,390,381 (GRCm39) |
C187S |
probably damaging |
Het |
| Dcxr |
T |
C |
11: 120,616,993 (GRCm39) |
I123M |
possibly damaging |
Het |
| Fstl1 |
T |
C |
16: 37,647,175 (GRCm39) |
Y182H |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,178 (GRCm39) |
|
probably null |
Het |
| Gpr179 |
T |
C |
11: 97,228,627 (GRCm39) |
E1176G |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,352,811 (GRCm39) |
S99P |
probably damaging |
Het |
| Igkv4-79 |
T |
A |
6: 69,020,110 (GRCm39) |
K68N |
probably damaging |
Het |
| Kpna6 |
C |
T |
4: 129,549,276 (GRCm39) |
V169I |
probably damaging |
Het |
| Krit1 |
G |
T |
5: 3,862,844 (GRCm39) |
V278F |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,914,627 (GRCm39) |
S68P |
probably damaging |
Het |
| Mylk3 |
A |
C |
8: 86,078,586 (GRCm39) |
|
probably null |
Het |
| Nfasc |
A |
T |
1: 132,570,514 (GRCm39) |
|
probably benign |
Het |
| Ntsr1 |
T |
C |
2: 180,184,335 (GRCm39) |
F346S |
probably damaging |
Het |
| Or10ak11 |
A |
G |
4: 118,686,989 (GRCm39) |
V216A |
probably benign |
Het |
| Or5b107 |
T |
C |
19: 13,142,735 (GRCm39) |
M119T |
probably damaging |
Het |
| Phox2a |
T |
C |
7: 101,470,942 (GRCm39) |
F145L |
probably damaging |
Het |
| Rbm7 |
A |
G |
9: 48,402,149 (GRCm39) |
V146A |
probably damaging |
Het |
| Sall3 |
A |
T |
18: 81,016,447 (GRCm39) |
Y494N |
probably damaging |
Het |
| Ssbp1 |
T |
A |
6: 40,455,004 (GRCm39) |
|
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,112,746 (GRCm39) |
L4P |
probably damaging |
Het |
| Stk-ps2 |
A |
T |
1: 46,069,010 (GRCm39) |
|
noncoding transcript |
Het |
| Tmem67 |
G |
A |
4: 12,063,126 (GRCm39) |
R507C |
probably damaging |
Het |
| Unc13c |
A |
T |
9: 73,839,563 (GRCm39) |
D429E |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,985,356 (GRCm39) |
|
probably null |
Het |
| Vmn1r171 |
T |
C |
7: 23,332,252 (GRCm39) |
V159A |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,031,159 (GRCm39) |
E927G |
probably benign |
Het |
| Zfp820 |
T |
A |
17: 22,040,162 (GRCm39) |
K16* |
probably null |
Het |
| Zgrf1 |
T |
C |
3: 127,381,790 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Actr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01420:Actr6
|
APN |
10 |
89,561,027 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02387:Actr6
|
APN |
10 |
89,550,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Actr6
|
APN |
10 |
89,562,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Allelujeva
|
UTSW |
10 |
89,550,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
Exalt
|
UTSW |
10 |
89,568,064 (GRCm39) |
nonsense |
probably null |
|
|
preiset
|
UTSW |
10 |
89,562,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0145:Actr6
|
UTSW |
10 |
89,564,040 (GRCm39) |
nonsense |
probably null |
|
|
R1413:Actr6
|
UTSW |
10 |
89,564,019 (GRCm39) |
nonsense |
probably null |
|
|
R1611:Actr6
|
UTSW |
10 |
89,568,064 (GRCm39) |
nonsense |
probably null |
|
|
R4271:Actr6
|
UTSW |
10 |
89,553,101 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4492:Actr6
|
UTSW |
10 |
89,561,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4913:Actr6
|
UTSW |
10 |
89,550,808 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4976:Actr6
|
UTSW |
10 |
89,561,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5119:Actr6
|
UTSW |
10 |
89,561,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5767:Actr6
|
UTSW |
10 |
89,562,617 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5946:Actr6
|
UTSW |
10 |
89,564,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6443:Actr6
|
UTSW |
10 |
89,550,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6913:Actr6
|
UTSW |
10 |
89,562,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Actr6
|
UTSW |
10 |
89,550,784 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7201:Actr6
|
UTSW |
10 |
89,548,374 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7585:Actr6
|
UTSW |
10 |
89,561,658 (GRCm39) |
missense |
probably benign |
|
|
R8559:Actr6
|
UTSW |
10 |
89,568,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8809:Actr6
|
UTSW |
10 |
89,550,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8918:Actr6
|
UTSW |
10 |
89,553,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9651:Actr6
|
UTSW |
10 |
89,564,877 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation