Incidental Mutation 'R5697:Actr8'
| ID |
450755 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actr8
|
| Ensembl Gene |
ENSMUSG00000015971 |
| Gene Name |
ARP8 actin-related protein 8 |
| Synonyms |
ARP8, 5730542K05Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5697 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
29700294-29717409 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29713630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 550
(F550S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016110]
[ENSMUST00000016115]
[ENSMUST00000122205]
[ENSMUST00000135888]
[ENSMUST00000136726]
[ENSMUST00000224797]
|
| AlphaFold |
Q8R2S9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016110
|
| SMART Domains |
Protein: ENSMUSP00000016110
Gene: ENSMUSG00000015966
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
22 |
175 |
4.3e-26 |
PFAM |
|
Pfam:IL17R_fnIII_D2
|
176 |
268 |
1.3e-11 |
PFAM |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
329 |
476 |
3.5e-49 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016115
AA Change: F550S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000016115
Gene: ENSMUSG00000015971
AA Change: F550S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
27 |
N/A |
INTRINSIC |
|
ACTIN
|
46 |
621 |
3.34e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000122205
|
| SMART Domains |
Protein: ENSMUSP00000113686
Gene: ENSMUSG00000015966
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
PDB:4HSA|F
|
34 |
276 |
2e-23 |
PDB |
|
transmembrane domain
|
287 |
309 |
N/A |
INTRINSIC |
|
Pfam:SEFIR
|
329 |
476 |
1.7e-49 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135888
|
| SMART Domains |
Protein: ENSMUSP00000121407
Gene: ENSMUSG00000015966
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Pfam:IL17R_fnIII_D1
|
22 |
123 |
1.1e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136726
|
| SMART Domains |
Protein: ENSMUSP00000117802
Gene: ENSMUSG00000015966
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3JVF|C
|
13 |
171 |
5e-12 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223643
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000224797
AA Change: F550S
PolyPhen 2
Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224067
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225161
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
T |
8: 44,079,616 (GRCm39) |
W203R |
probably damaging |
Het |
| Adamts15 |
G |
A |
9: 30,823,090 (GRCm39) |
T326I |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,010,170 (GRCm39) |
L309P |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,231,063 (GRCm39) |
M1149V |
probably benign |
Het |
| Atp6v0a4 |
C |
T |
6: 38,027,442 (GRCm39) |
|
probably null |
Het |
| Capn9 |
C |
T |
8: 125,315,810 (GRCm39) |
H39Y |
unknown |
Het |
| Ccn2 |
A |
G |
10: 24,473,354 (GRCm39) |
T298A |
probably benign |
Het |
| Celsr2 |
G |
A |
3: 108,311,237 (GRCm39) |
Q1425* |
probably null |
Het |
| Chd6 |
A |
G |
2: 160,859,971 (GRCm39) |
L610P |
probably damaging |
Het |
| Clasp2 |
A |
T |
9: 113,689,190 (GRCm39) |
T424S |
probably benign |
Het |
| Clec5a |
T |
C |
6: 40,559,204 (GRCm39) |
D35G |
probably benign |
Het |
| Dnhd1 |
T |
G |
7: 105,323,395 (GRCm39) |
V599G |
probably damaging |
Het |
| Enpep |
T |
C |
3: 129,102,772 (GRCm39) |
T395A |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,527,952 (GRCm39) |
L320F |
probably damaging |
Het |
| H2bc22 |
C |
T |
13: 21,971,961 (GRCm39) |
|
probably null |
Het |
| Hivep3 |
C |
T |
4: 119,954,152 (GRCm39) |
H823Y |
possibly damaging |
Het |
| Ighv1-59 |
C |
T |
12: 115,298,968 (GRCm39) |
E29K |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,598,477 (GRCm39) |
I137V |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,903,070 (GRCm39) |
T316A |
probably benign |
Het |
| Map4k5 |
T |
C |
12: 69,877,210 (GRCm39) |
T312A |
probably benign |
Het |
| Megf6 |
G |
T |
4: 154,342,686 (GRCm39) |
A642S |
probably null |
Het |
| Mrgprb3 |
G |
T |
7: 48,292,673 (GRCm39) |
L293M |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,885,155 (GRCm39) |
E1138G |
probably damaging |
Het |
| Niban1 |
T |
C |
1: 151,576,012 (GRCm39) |
F379L |
probably damaging |
Het |
| Pias2 |
A |
G |
18: 77,220,884 (GRCm39) |
K373R |
probably damaging |
Het |
| Prss23 |
A |
G |
7: 89,159,190 (GRCm39) |
F293S |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,502,152 (GRCm39) |
Y66H |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,374,720 (GRCm39) |
R5061G |
possibly damaging |
Het |
| Sergef |
A |
G |
7: 46,288,683 (GRCm39) |
|
probably benign |
Het |
| Slc7a1 |
A |
G |
5: 148,270,792 (GRCm39) |
V558A |
probably benign |
Het |
| Smc2 |
A |
G |
4: 52,459,045 (GRCm39) |
E480G |
probably benign |
Het |
| Smyd3 |
T |
G |
1: 179,239,247 (GRCm39) |
K111T |
probably damaging |
Het |
| Tchh |
A |
T |
3: 93,352,350 (GRCm39) |
R597* |
probably null |
Het |
| Ttc6 |
G |
T |
12: 57,724,000 (GRCm39) |
V1043L |
probably benign |
Het |
| Vmn1r10 |
T |
G |
6: 57,090,474 (GRCm39) |
L22R |
probably damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,449,917 (GRCm39) |
D107G |
probably damaging |
Het |
| Zfp1005 |
C |
T |
2: 150,111,394 (GRCm39) |
H695Y |
possibly damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,470 (GRCm39) |
Y103H |
probably benign |
Het |
| Zfp39 |
G |
T |
11: 58,780,661 (GRCm39) |
H700Q |
probably benign |
Het |
| Zfp982 |
A |
T |
4: 147,597,046 (GRCm39) |
E134D |
probably benign |
Het |
|
| Other mutations in Actr8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01089:Actr8
|
APN |
14 |
29,710,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01449:Actr8
|
APN |
14 |
29,712,927 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01577:Actr8
|
APN |
14 |
29,709,232 (GRCm39) |
missense |
probably benign |
|
|
IGL02118:Actr8
|
APN |
14 |
29,704,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02647:Actr8
|
APN |
14 |
29,712,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02659:Actr8
|
APN |
14 |
29,708,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02696:Actr8
|
APN |
14 |
29,704,628 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL03015:Actr8
|
APN |
14 |
29,708,273 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
IGL03335:Actr8
|
APN |
14 |
29,700,514 (GRCm39) |
missense |
probably benign |
|
|
R0512:Actr8
|
UTSW |
14 |
29,700,513 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0735:Actr8
|
UTSW |
14 |
29,711,669 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0926:Actr8
|
UTSW |
14 |
29,709,181 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1443:Actr8
|
UTSW |
14 |
29,706,056 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1470:Actr8
|
UTSW |
14 |
29,708,926 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1616:Actr8
|
UTSW |
14 |
29,704,601 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2097:Actr8
|
UTSW |
14 |
29,709,185 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2240:Actr8
|
UTSW |
14 |
29,711,714 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2570:Actr8
|
UTSW |
14 |
29,709,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Actr8
|
UTSW |
14 |
29,704,672 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5439:Actr8
|
UTSW |
14 |
29,708,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5727:Actr8
|
UTSW |
14 |
29,712,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5860:Actr8
|
UTSW |
14 |
29,708,242 (GRCm39) |
nonsense |
probably null |
|
|
R5988:Actr8
|
UTSW |
14 |
29,715,030 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6006:Actr8
|
UTSW |
14 |
29,706,099 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6009:Actr8
|
UTSW |
14 |
29,700,454 (GRCm39) |
unclassified |
probably benign |
|
|
R6155:Actr8
|
UTSW |
14 |
29,700,546 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6190:Actr8
|
UTSW |
14 |
29,713,674 (GRCm39) |
nonsense |
probably null |
|
|
R6329:Actr8
|
UTSW |
14 |
29,715,041 (GRCm39) |
nonsense |
probably null |
|
|
R6483:Actr8
|
UTSW |
14 |
29,700,538 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6517:Actr8
|
UTSW |
14 |
29,704,673 (GRCm39) |
nonsense |
probably null |
|
|
R6562:Actr8
|
UTSW |
14 |
29,708,411 (GRCm39) |
splice site |
probably null |
|
|
R7484:Actr8
|
UTSW |
14 |
29,714,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8190:Actr8
|
UTSW |
14 |
29,706,030 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8236:Actr8
|
UTSW |
14 |
29,704,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8516:Actr8
|
UTSW |
14 |
29,712,856 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9484:Actr8
|
UTSW |
14 |
29,708,301 (GRCm39) |
missense |
probably benign |
0.19 |
|
Z1177:Actr8
|
UTSW |
14 |
29,709,199 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Actr8
|
UTSW |
14 |
29,708,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGGGCAGATCCTAGAG -3'
(R):5'- CCCACTGAAAGTCATGTTCACATTTC -3'
Sequencing Primer
(F):5'- CCTAGAGGATGCTGGGTTGTTTAAG -3'
(R):5'- TCTAGGTCCTCGACACTCACAG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation