Incidental Mutation 'IGL01783:Actrt3'
ID |
154201 |
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 # |
IGL01783
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
30651221-30654021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30652624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 157
(T157A)
|
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: T157A
PolyPhen 2
Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000048360 Gene: ENSMUSG00000037737 AA Change: T157A
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd13 |
T |
C |
8: 10,037,900 (GRCm39) |
Y166H |
possibly damaging |
Het |
Abi3bp |
G |
A |
16: 56,353,332 (GRCm39) |
|
probably null |
Het |
Adam26b |
T |
C |
8: 43,974,798 (GRCm39) |
K68R |
probably benign |
Het |
Adgrg7 |
A |
G |
16: 56,568,282 (GRCm39) |
|
probably null |
Het |
Ano6 |
T |
C |
15: 95,860,143 (GRCm39) |
I755T |
possibly damaging |
Het |
Basp1 |
T |
C |
15: 25,364,953 (GRCm39) |
N15D |
unknown |
Het |
Bod1l |
T |
C |
5: 41,966,055 (GRCm39) |
N2670S |
probably benign |
Het |
Btbd3 |
T |
A |
2: 138,125,656 (GRCm39) |
I280N |
probably damaging |
Het |
Cdh16 |
T |
A |
8: 105,344,488 (GRCm39) |
Y17F |
probably damaging |
Het |
Clmp |
G |
T |
9: 40,693,703 (GRCm39) |
G307W |
possibly damaging |
Het |
Clrn2 |
C |
A |
5: 45,617,503 (GRCm39) |
Q125K |
probably benign |
Het |
Ctnna3 |
C |
T |
10: 63,656,248 (GRCm39) |
A276V |
possibly damaging |
Het |
Dram2 |
A |
T |
3: 106,480,972 (GRCm39) |
T172S |
possibly damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,822 (GRCm39) |
|
probably benign |
Het |
Ezr |
T |
C |
17: 7,009,888 (GRCm39) |
|
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,275,257 (GRCm39) |
D352E |
probably damaging |
Het |
Gbe1 |
T |
C |
16: 70,198,743 (GRCm39) |
|
probably null |
Het |
Gpr18 |
T |
A |
14: 122,149,789 (GRCm39) |
M79L |
probably benign |
Het |
Gss |
T |
C |
2: 155,413,479 (GRCm39) |
Y196C |
probably damaging |
Het |
Gtpbp1 |
T |
C |
15: 79,600,398 (GRCm39) |
S444P |
probably damaging |
Het |
Hecw1 |
C |
T |
13: 14,452,878 (GRCm39) |
R712K |
probably damaging |
Het |
Helz2 |
T |
G |
2: 180,874,674 (GRCm39) |
D1940A |
probably damaging |
Het |
Hmcn1 |
A |
T |
1: 150,491,051 (GRCm39) |
V4166E |
possibly damaging |
Het |
Klkb1 |
T |
C |
8: 45,729,428 (GRCm39) |
Y297C |
probably damaging |
Het |
Krt75 |
T |
A |
15: 101,473,364 (GRCm39) |
I537F |
probably benign |
Het |
Lrp1b |
T |
A |
2: 41,202,584 (GRCm39) |
T1176S |
probably damaging |
Het |
Nid2 |
T |
C |
14: 19,818,745 (GRCm39) |
L413P |
probably benign |
Het |
Or10ag57 |
T |
A |
2: 87,218,187 (GRCm39) |
M46K |
possibly damaging |
Het |
Or10ag57 |
G |
T |
2: 87,218,182 (GRCm39) |
L44F |
probably benign |
Het |
Or4c11 |
T |
C |
2: 88,695,186 (GRCm39) |
L79P |
probably damaging |
Het |
Or5t7 |
A |
G |
2: 86,507,425 (GRCm39) |
V84A |
probably benign |
Het |
Piwil1 |
A |
G |
5: 128,820,890 (GRCm39) |
N272D |
probably benign |
Het |
Ppfia3 |
T |
C |
7: 45,009,481 (GRCm39) |
|
probably null |
Het |
Prkg1 |
A |
G |
19: 30,602,089 (GRCm39) |
V389A |
probably damaging |
Het |
Sema3a |
C |
A |
5: 13,611,767 (GRCm39) |
S344R |
probably damaging |
Het |
Serpina3j |
T |
C |
12: 104,284,750 (GRCm39) |
L309P |
probably damaging |
Het |
Slc15a1 |
A |
G |
14: 121,708,688 (GRCm39) |
|
probably null |
Het |
Sp8 |
G |
T |
12: 118,812,759 (GRCm39) |
A205S |
probably benign |
Het |
Speer4a1 |
T |
A |
5: 26,240,045 (GRCm39) |
Q235L |
possibly damaging |
Het |
St6gal1 |
A |
G |
16: 23,140,305 (GRCm39) |
T159A |
probably benign |
Het |
Tbrg1 |
G |
T |
9: 37,565,596 (GRCm39) |
P119T |
possibly damaging |
Het |
Tmem59l |
T |
C |
8: 70,939,874 (GRCm39) |
T32A |
probably damaging |
Het |
Trmt13 |
G |
A |
3: 116,376,561 (GRCm39) |
R277* |
probably null |
Het |
Zfp316 |
A |
G |
5: 143,248,631 (GRCm39) |
F205S |
unknown |
Het |
Zfp418 |
G |
T |
7: 7,184,448 (GRCm39) |
W137L |
possibly damaging |
Het |
Zp3r |
A |
T |
1: 130,526,603 (GRCm39) |
V200D |
possibly 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 |
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 |
|
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 |
2014-02-04 |