Incidental Mutation 'IGL03202:Actr10'
ID |
413011 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actr10
|
Ensembl Gene |
ENSMUSG00000021076 |
Gene Name |
ARP10 actin-related protein 10 |
Synonyms |
Arp11 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.963)
|
Stock # |
IGL03202
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
70984631-71011492 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 70987605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tryptophan
at position 37
(C37W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000021479
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021479]
[ENSMUST00000220582]
[ENSMUST00000223549]
|
AlphaFold |
Q9QZB7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021479
AA Change: C37W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000021479 Gene: ENSMUSG00000021076 AA Change: C37W
Domain | Start | End | E-Value | Type |
ACTIN
|
13 |
394 |
3e-26 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220582
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220770
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221165
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222291
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000223549
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
T |
C |
10: 86,909,911 (GRCm39) |
M1T |
probably null |
Het |
Ace |
T |
A |
11: 105,867,788 (GRCm39) |
I168N |
probably damaging |
Het |
Atp10b |
T |
C |
11: 43,125,268 (GRCm39) |
|
probably null |
Het |
Bend5 |
A |
G |
4: 111,290,441 (GRCm39) |
N146D |
possibly damaging |
Het |
Cacna1b |
A |
G |
2: 24,541,124 (GRCm39) |
F1347L |
probably damaging |
Het |
Crybg3 |
T |
A |
16: 59,315,072 (GRCm39) |
I2910F |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,805,023 (GRCm39) |
S1945P |
possibly damaging |
Het |
Cxcr4 |
T |
G |
1: 128,516,641 (GRCm39) |
K340T |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,121,683 (GRCm39) |
Y1433F |
probably damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,231,101 (GRCm39) |
V77A |
probably damaging |
Het |
Fscn3 |
A |
T |
6: 28,434,451 (GRCm39) |
H342L |
probably benign |
Het |
Gm9843 |
T |
C |
16: 76,200,234 (GRCm39) |
|
noncoding transcript |
Het |
Hdac9 |
T |
C |
12: 34,423,950 (GRCm39) |
E520G |
probably damaging |
Het |
Itm2b |
G |
A |
14: 73,603,229 (GRCm39) |
P120L |
probably damaging |
Het |
Itpa |
T |
A |
2: 130,509,859 (GRCm39) |
|
probably benign |
Het |
Lce1l |
A |
T |
3: 92,757,631 (GRCm39) |
C76S |
unknown |
Het |
Lin54 |
A |
G |
5: 100,623,673 (GRCm39) |
S55P |
possibly damaging |
Het |
Lrrc37 |
T |
A |
11: 103,506,199 (GRCm39) |
E1923V |
probably benign |
Het |
Mtfmt |
C |
A |
9: 65,356,008 (GRCm39) |
P303Q |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,244,811 (GRCm39) |
|
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,983,011 (GRCm39) |
|
probably benign |
Het |
Or13a19 |
A |
G |
7: 139,903,019 (GRCm39) |
M136V |
possibly damaging |
Het |
Or1e22 |
G |
A |
11: 73,377,351 (GRCm39) |
Q100* |
probably null |
Het |
Pcnx2 |
A |
C |
8: 126,498,783 (GRCm39) |
I1572S |
probably damaging |
Het |
Piezo2 |
A |
T |
18: 63,144,669 (GRCm39) |
Y2809N |
probably damaging |
Het |
Pygl |
G |
T |
12: 70,246,420 (GRCm39) |
Q376K |
probably benign |
Het |
Resf1 |
G |
A |
6: 149,227,937 (GRCm39) |
V328I |
probably benign |
Het |
Rrp12 |
T |
C |
19: 41,857,205 (GRCm39) |
|
probably null |
Het |
Sephs1 |
A |
T |
2: 4,894,074 (GRCm39) |
I92F |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,836,692 (GRCm39) |
F101L |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,915,375 (GRCm39) |
I2053T |
probably damaging |
Het |
Tgfbr3 |
T |
G |
5: 107,257,630 (GRCm39) |
|
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,691,319 (GRCm39) |
Y401* |
probably null |
Het |
Vmn2r87 |
A |
G |
10: 130,333,091 (GRCm39) |
M53T |
probably benign |
Het |
Zfp941 |
A |
G |
7: 140,392,966 (GRCm39) |
V131A |
probably benign |
Het |
|
Other mutations in Actr10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02084:Actr10
|
APN |
12 |
71,001,423 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Actr10
|
APN |
12 |
70,990,289 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02628:Actr10
|
APN |
12 |
71,001,430 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03266:Actr10
|
APN |
12 |
71,003,440 (GRCm39) |
missense |
probably benign |
0.00 |
R0505:Actr10
|
UTSW |
12 |
71,006,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R1734:Actr10
|
UTSW |
12 |
71,008,770 (GRCm39) |
missense |
probably benign |
0.23 |
R1919:Actr10
|
UTSW |
12 |
70,989,104 (GRCm39) |
missense |
probably benign |
0.00 |
R2151:Actr10
|
UTSW |
12 |
70,987,575 (GRCm39) |
nonsense |
probably null |
|
R2201:Actr10
|
UTSW |
12 |
71,006,795 (GRCm39) |
missense |
probably damaging |
0.97 |
R4259:Actr10
|
UTSW |
12 |
70,999,759 (GRCm39) |
missense |
probably benign |
0.02 |
R4261:Actr10
|
UTSW |
12 |
70,999,759 (GRCm39) |
missense |
probably benign |
0.02 |
R5138:Actr10
|
UTSW |
12 |
71,008,653 (GRCm39) |
missense |
probably damaging |
1.00 |
R5326:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
unclassified |
probably benign |
|
R5542:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
unclassified |
probably benign |
|
R6248:Actr10
|
UTSW |
12 |
70,999,733 (GRCm39) |
missense |
probably benign |
0.00 |
R6882:Actr10
|
UTSW |
12 |
71,003,125 (GRCm39) |
missense |
probably benign |
0.00 |
R7102:Actr10
|
UTSW |
12 |
70,999,805 (GRCm39) |
critical splice donor site |
probably null |
|
R7758:Actr10
|
UTSW |
12 |
70,989,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R7800:Actr10
|
UTSW |
12 |
70,990,283 (GRCm39) |
missense |
probably benign |
0.26 |
R8766:Actr10
|
UTSW |
12 |
71,001,430 (GRCm39) |
critical splice donor site |
probably null |
|
R8850:Actr10
|
UTSW |
12 |
70,989,032 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9011:Actr10
|
UTSW |
12 |
70,999,734 (GRCm39) |
missense |
probably benign |
0.01 |
R9068:Actr10
|
UTSW |
12 |
70,989,073 (GRCm39) |
missense |
probably damaging |
1.00 |
R9229:Actr10
|
UTSW |
12 |
70,990,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R9452:Actr10
|
UTSW |
12 |
71,006,818 (GRCm39) |
critical splice donor site |
probably null |
|
X0012:Actr10
|
UTSW |
12 |
70,987,639 (GRCm39) |
missense |
probably benign |
0.04 |
X0027:Actr10
|
UTSW |
12 |
71,006,733 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1176:Actr10
|
UTSW |
12 |
71,008,803 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Posted On |
2016-08-02 |