Incidental Mutation 'R6849:Atosa'
ID |
534920 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atosa
|
Ensembl Gene |
ENSMUSG00000034858 |
Gene Name |
atos homolog A |
Synonyms |
C130047D21Rik, Fam214a, 6330415I01Rik, BC031353 |
MMRRC Submission |
044953-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.451)
|
Stock # |
R6849 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
74860166-74939750 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 74916594 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Histidine
at position 398
(N398H)
|
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: N405H
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000080442 Gene: ENSMUSG00000034858 AA Change: N405H
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: N398H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000129319 Gene: ENSMUSG00000034858 AA Change: N398H
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 damaging
Transcript: ENSMUST00000214755
AA Change: N398H
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000215370
AA Change: N398H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Meta Mutation Damage Score |
0.0921 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmc3 |
T |
A |
7: 83,235,565 (GRCm39) |
I54K |
probably damaging |
Het |
Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
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 |
R3147:Atosa
|
UTSW |
9 |
74,916,120 (GRCm39) |
missense |
probably benign |
0.25 |
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 |
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'- TGGTCGATTCCAGTGTCTCC -3'
(R):5'- CTCCTGGAGTAAAGAGCCAATC -3'
Sequencing Primer
(F):5'- AGTGTCTCCAGCTGTCAGAG -3'
(R):5'- CAGACTGTGAGAAGTGCAAGTTTCTC -3'
|
Posted On |
2018-09-12 |