Incidental Mutation 'R3147:Atosa'
| ID |
264290 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosa
|
| Ensembl Gene |
ENSMUSG00000034858 |
| Gene Name |
atos homolog A |
| Synonyms |
C130047D21Rik, Fam214a, 6330415I01Rik, BC031353 |
| MMRRC Submission |
040599-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R3147 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
74860166-74939750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74916120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 240
(I240V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081746]
[ENSMUST00000170846]
[ENSMUST00000214755]
[ENSMUST00000215370]
|
| AlphaFold |
Q69ZK7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081746
AA Change: I247V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: I247V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
349 |
360 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
361 |
458 |
7.22e-14 |
PROSPERO |
|
internal_repeat_1
|
473 |
570 |
7.22e-14 |
PROSPERO |
|
low complexity region
|
840 |
859 |
N/A |
INTRINSIC |
|
DUF4210
|
885 |
943 |
8.5e-29 |
SMART |
|
Pfam:Chromosome_seg
|
1024 |
1081 |
3.5e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170846
AA Change: I240V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: I240V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
354 |
451 |
8.38e-14 |
PROSPERO |
|
internal_repeat_1
|
466 |
563 |
8.38e-14 |
PROSPERO |
|
low complexity region
|
833 |
852 |
N/A |
INTRINSIC |
|
DUF4210
|
878 |
936 |
8.5e-29 |
SMART |
|
Pfam:Chromosome_seg
|
1016 |
1074 |
1.8e-22 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214755
AA Change: I240V
PolyPhen 2
Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215370
AA Change: I240V
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933436I01Rik |
T |
C |
X: 66,964,984 (GRCm39) |
D12G |
probably benign |
Het |
| Alg2 |
A |
T |
4: 47,472,259 (GRCm39) |
V183D |
probably damaging |
Het |
| Amy1 |
T |
C |
3: 113,363,697 (GRCm39) |
|
probably benign |
Het |
| Asb15 |
G |
T |
6: 24,566,258 (GRCm39) |
A404S |
probably damaging |
Het |
| Atf2 |
T |
C |
2: 73,681,283 (GRCm39) |
|
probably null |
Het |
| Baalc |
A |
T |
15: 38,812,568 (GRCm39) |
E106V |
possibly damaging |
Het |
| Catsperd |
G |
T |
17: 56,971,039 (GRCm39) |
C701F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,866,497 (GRCm39) |
I769N |
probably damaging |
Het |
| Ccdc158 |
T |
C |
5: 92,805,822 (GRCm39) |
N311S |
probably damaging |
Het |
| Dbx1 |
C |
A |
7: 49,286,297 (GRCm39) |
R56L |
probably damaging |
Het |
| Eif4enif1 |
T |
A |
11: 3,194,003 (GRCm39) |
|
probably null |
Het |
| Elmod3 |
T |
G |
6: 72,563,485 (GRCm39) |
T48P |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,324,865 (GRCm39) |
S820P |
probably damaging |
Het |
| Gimap8 |
T |
C |
6: 48,627,440 (GRCm39) |
V138A |
probably damaging |
Het |
| H1f5 |
T |
C |
13: 21,964,285 (GRCm39) |
|
probably benign |
Het |
| Il6ra |
G |
T |
3: 89,793,235 (GRCm39) |
P305Q |
probably benign |
Het |
| Kcng3 |
A |
G |
17: 83,895,749 (GRCm39) |
V239A |
possibly damaging |
Het |
| Kcnrg |
T |
C |
14: 61,845,140 (GRCm39) |
F60S |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 68,044,653 (GRCm39) |
D184G |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,065,771 (GRCm39) |
L206Q |
probably damaging |
Het |
| Lhx3 |
T |
C |
2: 26,091,277 (GRCm39) |
D344G |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,943,843 (GRCm39) |
V1380A |
possibly damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,862,284 (GRCm39) |
K1548N |
possibly damaging |
Het |
| Mtfr1 |
T |
C |
3: 19,271,374 (GRCm39) |
V182A |
probably benign |
Het |
| Or14a259 |
A |
G |
7: 86,013,092 (GRCm39) |
L151S |
probably benign |
Het |
| Or5p64 |
C |
T |
7: 107,854,883 (GRCm39) |
G154D |
possibly damaging |
Het |
| Rsf1 |
CG |
CGACGGAGGAG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Snx4 |
A |
C |
16: 33,108,094 (GRCm39) |
D296A |
probably benign |
Het |
| Sox7 |
A |
T |
14: 64,186,083 (GRCm39) |
Y373F |
probably damaging |
Het |
| Tuba1b |
T |
C |
15: 98,830,386 (GRCm39) |
T145A |
probably benign |
Het |
| Usp32 |
T |
A |
11: 84,919,913 (GRCm39) |
N718I |
probably damaging |
Het |
| Wapl |
G |
A |
14: 34,447,106 (GRCm39) |
V648M |
probably damaging |
Het |
| Zfp85 |
C |
T |
13: 67,900,612 (GRCm39) |
V10M |
probably damaging |
Het |
| Zgrf1 |
A |
G |
3: 127,377,797 (GRCm39) |
N1014S |
possibly damaging |
Het |
|
| Other mutations in Atosa |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00333:Atosa
|
APN |
9 |
74,933,072 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL00588:Atosa
|
APN |
9 |
74,916,863 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01887:Atosa
|
APN |
9 |
74,924,339 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02828:Atosa
|
APN |
9 |
74,913,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Atosa
|
APN |
9 |
74,917,450 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03277:Atosa
|
APN |
9 |
74,916,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0052:Atosa
|
UTSW |
9 |
74,926,265 (GRCm39) |
splice site |
probably benign |
|
|
R0052:Atosa
|
UTSW |
9 |
74,926,265 (GRCm39) |
splice site |
probably benign |
|
|
R0615:Atosa
|
UTSW |
9 |
74,911,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Atosa
|
UTSW |
9 |
74,916,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Atosa
|
UTSW |
9 |
74,913,603 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1448:Atosa
|
UTSW |
9 |
74,917,456 (GRCm39) |
nonsense |
probably null |
|
|
R1656:Atosa
|
UTSW |
9 |
74,916,241 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2024:Atosa
|
UTSW |
9 |
74,917,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3745:Atosa
|
UTSW |
9 |
74,917,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4105:Atosa
|
UTSW |
9 |
74,916,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4224:Atosa
|
UTSW |
9 |
74,916,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Atosa
|
UTSW |
9 |
74,938,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4519:Atosa
|
UTSW |
9 |
74,930,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Atosa
|
UTSW |
9 |
74,920,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4885:Atosa
|
UTSW |
9 |
74,913,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5009:Atosa
|
UTSW |
9 |
74,916,171 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5574:Atosa
|
UTSW |
9 |
74,917,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Atosa
|
UTSW |
9 |
74,932,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5696:Atosa
|
UTSW |
9 |
74,917,399 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5891:Atosa
|
UTSW |
9 |
74,911,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5936:Atosa
|
UTSW |
9 |
74,916,586 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6165:Atosa
|
UTSW |
9 |
74,932,954 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6228:Atosa
|
UTSW |
9 |
74,913,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6419:Atosa
|
UTSW |
9 |
74,916,619 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6499:Atosa
|
UTSW |
9 |
74,930,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Atosa
|
UTSW |
9 |
74,861,107 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6649:Atosa
|
UTSW |
9 |
74,917,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6849:Atosa
|
UTSW |
9 |
74,916,594 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7189:Atosa
|
UTSW |
9 |
74,911,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7402:Atosa
|
UTSW |
9 |
74,913,668 (GRCm39) |
nonsense |
probably null |
|
|
R8691:Atosa
|
UTSW |
9 |
74,917,335 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8769:Atosa
|
UTSW |
9 |
74,933,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8944:Atosa
|
UTSW |
9 |
74,911,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9323:Atosa
|
UTSW |
9 |
74,883,415 (GRCm39) |
intron |
probably benign |
|
|
R9621:Atosa
|
UTSW |
9 |
74,917,512 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9649:Atosa
|
UTSW |
9 |
74,924,349 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGGGCAGCTTATGACTG -3'
(R):5'- TTTCTAATGGCTGCAGTGTACTC -3'
Sequencing Primer
(F):5'- CTCTAGAATCAGTGCTGCGG -3'
(R):5'- CAGTGTACTCGGGAGGCATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation