Incidental Mutation 'R9742:Actrt3'
ID |
731864 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Actrt3
|
Ensembl Gene |
ENSMUSG00000037737 |
Gene Name |
actin related protein T3 |
Synonyms |
Arpm1, 1700119I24Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9742 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
30651221-30654021 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 30652434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 220
(Y220C)
|
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 damaging
Transcript: ENSMUST00000047630
AA Change: Y220C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000048360 Gene: ENSMUSG00000037737 AA Change: Y220C
Domain | Start | End | E-Value | Type |
ACTIN
|
5 |
369 |
3.33e-147 |
SMART |
|
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 |
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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
G |
7: 78,749,115 (GRCm39) |
S1295R |
probably benign |
Het |
Acsf2 |
C |
A |
11: 94,463,963 (GRCm39) |
V74L |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,541,986 (GRCm39) |
|
probably null |
Het |
Ak2 |
T |
A |
4: 128,901,961 (GRCm39) |
D211E |
possibly damaging |
Het |
Atp4b |
G |
A |
8: 13,440,097 (GRCm39) |
T83I |
probably damaging |
Het |
Brat1 |
A |
G |
5: 140,703,912 (GRCm39) |
T722A |
probably benign |
Het |
Cfap65 |
T |
C |
1: 74,943,840 (GRCm39) |
Y1557C |
probably benign |
Het |
Cmya5 |
T |
C |
13: 93,231,935 (GRCm39) |
D1051G |
possibly damaging |
Het |
Cuedc2 |
A |
G |
19: 46,319,727 (GRCm39) |
|
probably null |
Het |
Dtnb |
A |
T |
12: 3,736,740 (GRCm39) |
K293N |
possibly damaging |
Het |
Dusp26 |
A |
T |
8: 31,584,198 (GRCm39) |
T102S |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,024,170 (GRCm39) |
L1079H |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,026,065 (GRCm39) |
Y459C |
probably damaging |
Het |
Fam89b |
A |
T |
19: 5,779,330 (GRCm39) |
S76T |
probably benign |
Het |
Fbxo33 |
A |
G |
12: 59,251,682 (GRCm39) |
S278P |
probably damaging |
Het |
Fndc3a |
C |
A |
14: 72,777,693 (GRCm39) |
E1171* |
probably null |
Het |
Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
Il17ra |
T |
A |
6: 120,458,466 (GRCm39) |
I539N |
probably damaging |
Het |
Khdc1c |
T |
G |
1: 21,439,945 (GRCm39) |
H165Q |
probably benign |
Het |
Ldb1 |
A |
G |
19: 46,023,858 (GRCm39) |
|
probably null |
Het |
Lrrc27 |
C |
T |
7: 138,806,229 (GRCm39) |
A298V |
probably benign |
Het |
Lsr |
CTCTTCTTCTTCTTCTTC |
CTCTTCTTCTTCTTC |
7: 30,657,492 (GRCm39) |
|
probably benign |
Het |
Mpi |
A |
G |
9: 57,452,606 (GRCm39) |
C309R |
probably damaging |
Het |
Mrtfa |
G |
A |
15: 80,901,180 (GRCm39) |
A472V |
possibly damaging |
Het |
Mtcl3 |
C |
A |
10: 29,024,394 (GRCm39) |
Q437K |
probably benign |
Het |
Muc17 |
A |
G |
5: 137,167,127 (GRCm39) |
Y276H |
|
Het |
Myh6 |
T |
A |
14: 55,194,056 (GRCm39) |
M778L |
probably benign |
Het |
Nmnat1 |
T |
A |
4: 149,553,338 (GRCm39) |
E258V |
probably damaging |
Het |
Or10ag53 |
T |
C |
2: 87,082,376 (GRCm39) |
F32L |
probably benign |
Het |
Or5b108 |
T |
C |
19: 13,168,769 (GRCm39) |
V246A |
probably damaging |
Het |
Pik3c2b |
A |
G |
1: 133,022,487 (GRCm39) |
E1143G |
probably damaging |
Het |
Plch2 |
C |
T |
4: 155,082,912 (GRCm39) |
D579N |
probably damaging |
Het |
Slc22a19 |
T |
C |
19: 7,688,281 (GRCm39) |
Q93R |
probably benign |
Het |
Slc9c1 |
T |
A |
16: 45,400,616 (GRCm39) |
I742N |
probably damaging |
Het |
Smarcc2 |
A |
G |
10: 128,297,222 (GRCm39) |
Y38C |
probably damaging |
Het |
Strbp |
T |
C |
2: 37,515,268 (GRCm39) |
T253A |
probably damaging |
Het |
Trim40 |
A |
G |
17: 37,199,902 (GRCm39) |
S59P |
possibly damaging |
Het |
Trpm6 |
G |
T |
19: 18,800,766 (GRCm39) |
V827L |
probably benign |
Het |
Unc5d |
A |
G |
8: 29,156,792 (GRCm39) |
|
probably null |
Het |
Vmn2r118 |
T |
C |
17: 55,918,009 (GRCm39) |
T168A |
probably damaging |
Het |
Wdfy4 |
G |
A |
14: 32,809,987 (GRCm39) |
H1745Y |
|
Het |
Xrra1 |
A |
G |
7: 99,563,660 (GRCm39) |
D549G |
probably benign |
Het |
Zhx2 |
A |
G |
15: 57,686,806 (GRCm39) |
E725G |
probably benign |
Het |
Zzef1 |
G |
A |
11: 72,749,179 (GRCm39) |
R889H |
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 |
|
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 |
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'- ACATTTCATTATGCTGCCGAAG -3'
(R):5'- ACTGGCCTGGTGCTGAATTC -3'
Sequencing Primer
(F):5'- TGCCGAAGCACATCTTGTCG -3'
(R):5'- AATTCAGGAGCTGGGATTACTC -3'
|
Posted On |
2022-11-14 |