Incidental Mutation 'IGL02684:Actrt3'
ID |
303476 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Actrt3
|
Ensembl Gene |
ENSMUSG00000037737 |
Gene Name |
actin related protein T3 |
Synonyms |
Arpm1, 1700119I24Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02684
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30651221-30654021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 30653840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 53
(D53E)
|
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: D53E
PolyPhen 2
Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000048360 Gene: ENSMUSG00000037737 AA Change: D53E
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 |
|
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 |
4930596D02Rik |
A |
T |
14: 35,532,020 (GRCm39) |
L185* |
probably null |
Het |
Aadacl4fm5 |
A |
G |
4: 144,504,755 (GRCm39) |
|
probably benign |
Het |
Ankrd34b |
T |
C |
13: 92,575,016 (GRCm39) |
S83P |
probably damaging |
Het |
Asap1 |
A |
G |
15: 63,966,018 (GRCm39) |
V1029A |
probably benign |
Het |
Blk |
T |
C |
14: 63,617,143 (GRCm39) |
E288G |
probably benign |
Het |
Cep192 |
T |
G |
18: 67,967,634 (GRCm39) |
V706G |
probably damaging |
Het |
Chd2 |
T |
C |
7: 73,125,097 (GRCm39) |
K908E |
probably damaging |
Het |
Dnm1l |
A |
T |
16: 16,139,521 (GRCm39) |
I391N |
possibly damaging |
Het |
Fmn1 |
A |
G |
2: 113,355,622 (GRCm39) |
R688G |
unknown |
Het |
Gdap2 |
A |
G |
3: 100,078,336 (GRCm39) |
D100G |
probably benign |
Het |
Gm43638 |
T |
C |
5: 87,610,769 (GRCm39) |
I522V |
possibly damaging |
Het |
Gsap |
A |
T |
5: 21,447,801 (GRCm39) |
|
probably null |
Het |
Hoxd12 |
A |
G |
2: 74,505,905 (GRCm39) |
S159G |
probably benign |
Het |
Ints7 |
A |
G |
1: 191,345,749 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
G |
A |
6: 121,389,900 (GRCm39) |
Q524* |
probably null |
Het |
Klra10 |
T |
A |
6: 130,258,845 (GRCm39) |
H14L |
possibly damaging |
Het |
Lratd1 |
T |
C |
12: 14,200,646 (GRCm39) |
D27G |
probably damaging |
Het |
Mettl15 |
T |
C |
2: 108,961,925 (GRCm39) |
E228G |
probably damaging |
Het |
Or51v8 |
T |
C |
7: 103,319,591 (GRCm39) |
M216V |
probably benign |
Het |
Or9s18 |
G |
A |
13: 65,300,210 (GRCm39) |
M57I |
probably damaging |
Het |
Pabpc1l |
A |
G |
2: 163,873,197 (GRCm39) |
N156D |
probably benign |
Het |
Pkhd1l1 |
G |
T |
15: 44,379,605 (GRCm39) |
|
probably null |
Het |
Pm20d1 |
T |
A |
1: 131,732,697 (GRCm39) |
N345K |
probably benign |
Het |
Rasgrp1 |
A |
G |
2: 117,113,057 (GRCm39) |
V785A |
probably benign |
Het |
Sos2 |
A |
G |
12: 69,643,440 (GRCm39) |
L980S |
probably damaging |
Het |
Stam2 |
A |
T |
2: 52,609,947 (GRCm39) |
H56Q |
probably damaging |
Het |
Trpm6 |
T |
A |
19: 18,779,571 (GRCm39) |
|
probably benign |
Het |
Trpm7 |
A |
T |
2: 126,688,079 (GRCm39) |
D249E |
probably damaging |
Het |
Vmn1r203 |
A |
T |
13: 22,708,539 (GRCm39) |
T107S |
possibly damaging |
Het |
Vmn2r55 |
A |
G |
7: 12,404,887 (GRCm39) |
L172P |
probably damaging |
Het |
Vrtn |
A |
G |
12: 84,696,923 (GRCm39) |
R558G |
probably benign |
Het |
Zfp977 |
A |
T |
7: 42,232,439 (GRCm39) |
D7E |
probably damaging |
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 |
R0017:Actrt3
|
UTSW |
3 |
30,652,422 (GRCm39) |
missense |
probably benign |
0.00 |
R0410:Actrt3
|
UTSW |
3 |
30,652,273 (GRCm39) |
missense |
probably benign |
|
R0574:Actrt3
|
UTSW |
3 |
30,653,829 (GRCm39) |
missense |
probably benign |
0.21 |
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 |
|
Posted On |
2015-04-16 |