Incidental Mutation 'R0574:Actrt3'
| ID |
46565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actrt3
|
| Ensembl Gene |
ENSMUSG00000037737 |
| Gene Name |
actin related protein T3 |
| Synonyms |
Arpm1, 1700119I24Rik |
| MMRRC Submission |
038764-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0574 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
30651221-30654021 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 30653829 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 57
(E57G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000048360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047502]
[ENSMUST00000047630]
[ENSMUST00000192715]
[ENSMUST00000195396]
[ENSMUST00000195751]
|
| AlphaFold |
Q8BXF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047502
|
| SMART Domains |
Protein: ENSMUSP00000041034
Gene: ENSMUSG00000037730
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.44e-22 |
SMART |
|
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
302 |
324 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
499 |
522 |
3.58e-2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047630
AA Change: E57G
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000048360
Gene: ENSMUSG00000037737
AA Change: E57G
| Domain | Start | End | E-Value | Type |
|---|
|
ACTIN
|
5 |
369 |
3.33e-147 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083427
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192715
|
| SMART Domains |
Protein: ENSMUSP00000141951
Gene: ENSMUSG00000037730
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
24 |
119 |
4.44e-22 |
SMART |
|
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
302 |
324 |
1.47e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
5.14e-3 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
1.36e-2 |
SMART |
|
ZnF_C2H2
|
387 |
409 |
1.12e-3 |
SMART |
|
ZnF_C2H2
|
415 |
437 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
443 |
465 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
471 |
493 |
2.99e-4 |
SMART |
|
ZnF_C2H2
|
499 |
522 |
3.58e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194587
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195396
|
| SMART Domains |
Protein: ENSMUSP00000141623
Gene: ENSMUSG00000037730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
14 |
55 |
6.4e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000195751
|
| SMART Domains |
Protein: ENSMUSP00000141450
Gene: ENSMUSG00000037730
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
14 |
55 |
6.4e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700099C18Rik |
T |
C |
17: 95,068,919 (GRCm39) |
|
noncoding transcript |
Het |
| Abca14 |
A |
G |
7: 119,823,720 (GRCm39) |
I416V |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,696,372 (GRCm39) |
S262P |
probably damaging |
Het |
| Aldh1a2 |
T |
C |
9: 71,188,990 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,801,274 (GRCm39) |
I670V |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,967,353 (GRCm39) |
D1009G |
probably damaging |
Het |
| Ddr2 |
G |
T |
1: 169,809,532 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
A |
17: 25,270,734 (GRCm39) |
|
probably null |
Het |
| Itga1 |
A |
C |
13: 115,103,097 (GRCm39) |
S1111R |
probably damaging |
Het |
| Klk1b27 |
T |
A |
7: 43,705,525 (GRCm39) |
L199Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,323 (GRCm39) |
S329G |
probably benign |
Het |
| Man2b1 |
T |
G |
8: 85,823,405 (GRCm39) |
M913R |
probably benign |
Het |
| Mmp15 |
G |
A |
8: 96,092,029 (GRCm39) |
A80T |
possibly damaging |
Het |
| Mpo |
A |
T |
11: 87,686,902 (GRCm39) |
Y177F |
probably damaging |
Het |
| Mynn |
T |
C |
3: 30,670,888 (GRCm39) |
S587P |
probably benign |
Het |
| Nfkbib |
C |
T |
7: 28,461,213 (GRCm39) |
V145I |
probably benign |
Het |
| Or1o3 |
G |
T |
17: 37,573,772 (GRCm39) |
S261Y |
probably damaging |
Het |
| Or4k15 |
A |
T |
14: 50,364,139 (GRCm39) |
Y35F |
probably damaging |
Het |
| Or6k8-ps1 |
T |
C |
1: 173,979,132 (GRCm39) |
F17L |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,258,231 (GRCm39) |
|
probably benign |
Het |
| Ppargc1b |
C |
T |
18: 61,435,810 (GRCm39) |
G906D |
probably benign |
Het |
| Prl8a2 |
T |
A |
13: 27,532,883 (GRCm39) |
C32S |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,113 (GRCm39) |
|
probably null |
Het |
| Rprd2 |
T |
C |
3: 95,681,669 (GRCm39) |
E408G |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,746,555 (GRCm39) |
H1999L |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,038,821 (GRCm39) |
|
probably benign |
Het |
| Snx3 |
T |
A |
10: 42,378,383 (GRCm39) |
N19K |
probably benign |
Het |
| Stx8 |
C |
T |
11: 67,864,078 (GRCm39) |
T46M |
probably damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,492,547 (GRCm39) |
|
probably benign |
Het |
| Ush1c |
A |
G |
7: 45,846,228 (GRCm39) |
S855P |
possibly damaging |
Het |
| Usp54 |
A |
G |
14: 20,606,322 (GRCm39) |
V1338A |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,218,663 (GRCm39) |
I52M |
probably benign |
Het |
|
| Other mutations in Actrt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01433:Actrt3
|
APN |
3 |
30,652,188 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01783:Actrt3
|
APN |
3 |
30,652,624 (GRCm39) |
missense |
probably benign |
0.33 |
|
IGL02684:Actrt3
|
APN |
3 |
30,653,840 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0017:Actrt3
|
UTSW |
3 |
30,652,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0410:Actrt3
|
UTSW |
3 |
30,652,273 (GRCm39) |
missense |
probably benign |
|
|
R1710:Actrt3
|
UTSW |
3 |
30,653,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Actrt3
|
UTSW |
3 |
30,652,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Actrt3
|
UTSW |
3 |
30,651,985 (GRCm39) |
makesense |
probably null |
|
|
R2870:Actrt3
|
UTSW |
3 |
30,653,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2870:Actrt3
|
UTSW |
3 |
30,653,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4913:Actrt3
|
UTSW |
3 |
30,652,588 (GRCm39) |
missense |
probably benign |
|
|
R5683:Actrt3
|
UTSW |
3 |
30,652,427 (GRCm39) |
missense |
probably benign |
|
|
R5719:Actrt3
|
UTSW |
3 |
30,652,276 (GRCm39) |
missense |
probably benign |
0.40 |
|
R5942:Actrt3
|
UTSW |
3 |
30,652,813 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6153:Actrt3
|
UTSW |
3 |
30,653,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6177:Actrt3
|
UTSW |
3 |
30,652,316 (GRCm39) |
nonsense |
probably null |
|
|
R6741:Actrt3
|
UTSW |
3 |
30,652,663 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7584:Actrt3
|
UTSW |
3 |
30,652,356 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7603:Actrt3
|
UTSW |
3 |
30,652,696 (GRCm39) |
missense |
probably benign |
|
|
R8166:Actrt3
|
UTSW |
3 |
30,652,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8381:Actrt3
|
UTSW |
3 |
30,651,985 (GRCm39) |
makesense |
probably null |
|
|
R8768:Actrt3
|
UTSW |
3 |
30,651,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9091:Actrt3
|
UTSW |
3 |
30,652,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9270:Actrt3
|
UTSW |
3 |
30,652,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9331:Actrt3
|
UTSW |
3 |
30,652,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9742:Actrt3
|
UTSW |
3 |
30,652,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9780:Actrt3
|
UTSW |
3 |
30,652,876 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Actrt3
|
UTSW |
3 |
30,652,152 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATGAACGGCCACTGTATGCTTG -3'
(R):5'- CCTCTGTGACGCGACATTACCAAC -3'
Sequencing Primer
(F):5'- gtttttTGTAAGGAGTGGCCTTG -3'
(R):5'- TGTCACCGCACAGCCTG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation