Incidental Mutation 'R8381:Actrt3'
| ID |
646934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Actrt3
|
| Ensembl Gene |
ENSMUSG00000037737 |
| Gene Name |
actin related protein T3 |
| Synonyms |
Arpm1, 1700119I24Rik |
| MMRRC Submission |
067748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
30651221-30654021 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 30651985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Arginine
at position 370
(*370R)
|
| 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 null
Transcript: ENSMUST00000047630
AA Change: *370R
|
| SMART Domains |
Protein: ENSMUSP00000048360
Gene: ENSMUSG00000037737
AA Change: *370R
| 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 |
0.9476 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,879,282 (GRCm39) |
|
probably null |
Het |
| Adam34 |
A |
G |
8: 44,104,847 (GRCm39) |
I266T |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,302,952 (GRCm39) |
N2507S |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,527,710 (GRCm39) |
D144G |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,177,470 (GRCm39) |
S346P |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,114 (GRCm39) |
F270S |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,373,000 (GRCm39) |
D1026V |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,482,509 (GRCm39) |
|
probably null |
Het |
| Gjb6 |
T |
C |
14: 57,361,919 (GRCm39) |
E114G |
probably benign |
Het |
| Gpr160 |
A |
G |
3: 30,949,930 (GRCm39) |
M1V |
probably null |
Het |
| Hey2 |
A |
G |
10: 30,709,986 (GRCm39) |
S256P |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,337,920 (GRCm39) |
H590Q |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,317,453 (GRCm39) |
H192Q |
probably damaging |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,501 (GRCm39) |
Q81L |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,325 (GRCm39) |
H51L |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,895 (GRCm39) |
V218E |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,991 (GRCm39) |
D1190G |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,447 (GRCm39) |
Y198H |
probably damaging |
Het |
| Nlrp6 |
C |
T |
7: 140,503,754 (GRCm39) |
A620V |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,146 (GRCm39) |
F164L |
|
Het |
| Or5h22 |
A |
G |
16: 58,895,225 (GRCm39) |
S73P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,808,373 (GRCm39) |
I256V |
probably benign |
Het |
| Pcbp4 |
G |
A |
9: 106,338,488 (GRCm39) |
A138T |
probably damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,881 (GRCm39) |
T255I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo3 |
T |
A |
9: 37,341,056 (GRCm39) |
D72V |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,360,716 (GRCm39) |
S300G |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,822,566 (GRCm39) |
R670W |
probably damaging |
Het |
| Smok3c |
C |
T |
5: 138,063,824 (GRCm39) |
T437I |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,672,333 (GRCm39) |
I931V |
probably benign |
Het |
| Syk |
T |
C |
13: 52,787,085 (GRCm39) |
Y383H |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,225,972 (GRCm39) |
S886T |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,545,594 (GRCm39) |
M321V |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,132,166 (GRCm39) |
L598P |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,219,456 (GRCm39) |
I648L |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,447,676 (GRCm39) |
K1126T |
probably benign |
Het |
| Zfp729b |
T |
C |
13: 67,739,617 (GRCm39) |
T883A |
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 |
|
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 |
|
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'- TGCCCTGTTCAGAAGAATCC -3'
(R):5'- CATTAAGGATGTGGCAAAGCTG -3'
Sequencing Primer
(F):5'- TCAGTGGTAGAGCACTTAACAGTCC -3'
(R):5'- GCAAAGCTGGCACCTGC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation