Incidental Mutation 'IGL03073:Actr6'
| ID |
417594 |
| 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 # |
IGL03073
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
89547833-89568157 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89562556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 108
(S108P)
|
| 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: S108P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020109
Gene: ENSMUSG00000019948
AA Change: S108P
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
T |
C |
7: 124,930,735 (GRCm39) |
|
noncoding transcript |
Het |
| Adam34 |
A |
T |
8: 44,103,940 (GRCm39) |
N568K |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,488,703 (GRCm39) |
L408P |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,251,152 (GRCm39) |
V459A |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,835,713 (GRCm39) |
T486M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,921,941 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
C |
1: 91,272,278 (GRCm39) |
I502T |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,148,406 (GRCm39) |
Y674H |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,293,470 (GRCm39) |
N137K |
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,864,791 (GRCm39) |
D1196E |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,717,245 (GRCm39) |
|
probably benign |
Het |
| Lypd9 |
A |
T |
11: 58,338,277 (GRCm39) |
D38E |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,050,004 (GRCm39) |
H313N |
probably damaging |
Het |
| Mdh1b |
C |
T |
1: 63,760,646 (GRCm39) |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,310,153 (GRCm39) |
V805I |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,418,235 (GRCm39) |
D763E |
possibly damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,415,894 (GRCm39) |
H1091Q |
probably benign |
Het |
| Or5b112 |
T |
G |
19: 13,319,386 (GRCm39) |
I88R |
probably benign |
Het |
| Or8h8 |
A |
G |
2: 86,753,697 (GRCm39) |
Y60H |
probably damaging |
Het |
| Pcdh18 |
T |
A |
3: 49,707,816 (GRCm39) |
D886V |
possibly damaging |
Het |
| Pdlim4 |
A |
G |
11: 53,954,467 (GRCm39) |
V21A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,329,195 (GRCm39) |
M940T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,304,949 (GRCm39) |
|
probably null |
Het |
| Sox1 |
T |
C |
8: 12,446,625 (GRCm39) |
W89R |
probably damaging |
Het |
| Stx12 |
T |
C |
4: 132,585,760 (GRCm39) |
M207V |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,426,435 (GRCm39) |
T1154A |
probably damaging |
Het |
| Tmcc3 |
T |
G |
10: 94,414,813 (GRCm39) |
S172A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,889,461 (GRCm39) |
I1773F |
possibly damaging |
Het |
| Tshz3 |
A |
T |
7: 36,470,170 (GRCm39) |
N720Y |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,373,002 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
A |
C |
7: 23,306,273 (GRCm39) |
Q225P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,693,528 (GRCm39) |
I293V |
possibly damaging |
Het |
|
| Other mutations in Actr6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01088:Actr6
|
APN |
10 |
89,561,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01420:Actr6
|
APN |
10 |
89,561,027 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02387:Actr6
|
APN |
10 |
89,550,846 (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 |
2016-08-02 |
Incidental Mutation