Incidental Mutation 'IGL03277:Atosa'
| ID |
415446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Atosa
|
| Ensembl Gene |
ENSMUSG00000034858 |
| Gene Name |
atos homolog A |
| Synonyms |
C130047D21Rik, Fam214a, 6330415I01Rik, BC031353 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
IGL03277
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
74860166-74939750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 74916514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 371
(R371Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081746]
[ENSMUST00000170846]
[ENSMUST00000214755]
[ENSMUST00000215370]
|
| AlphaFold |
Q69ZK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081746
AA Change: R378Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: R378Q
| 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 damaging
Transcript: ENSMUST00000170846
AA Change: R371Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: R371Q
| 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: R371Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215370
AA Change: R371Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amt |
A |
G |
9: 108,178,418 (GRCm39) |
T342A |
probably benign |
Het |
| B3glct |
T |
C |
5: 149,650,299 (GRCm39) |
L134P |
probably damaging |
Het |
| Bms1 |
A |
T |
6: 118,382,083 (GRCm39) |
M485K |
probably benign |
Het |
| Chd6 |
T |
C |
2: 160,824,981 (GRCm39) |
N1226S |
probably null |
Het |
| Cpne2 |
T |
C |
8: 95,275,000 (GRCm39) |
Y3H |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,311,504 (GRCm39) |
V1739A |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,669,481 (GRCm39) |
T543S |
probably benign |
Het |
| Dock11 |
T |
G |
X: 35,277,603 (GRCm39) |
V1000G |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,735 (GRCm39) |
N60Y |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,849 (GRCm39) |
M499T |
possibly damaging |
Het |
| Elmod1 |
G |
A |
9: 53,833,272 (GRCm39) |
L178F |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,148,940 (GRCm39) |
S101P |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,642 (GRCm39) |
V684A |
possibly damaging |
Het |
| Mtx2 |
A |
G |
2: 74,698,748 (GRCm39) |
T124A |
probably damaging |
Het |
| Nat3 |
T |
A |
8: 68,000,341 (GRCm39) |
H73Q |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,780,234 (GRCm39) |
L2P |
possibly damaging |
Het |
| Nipsnap3a |
G |
T |
4: 52,997,219 (GRCm39) |
A162S |
probably benign |
Het |
| Or2a57 |
T |
G |
6: 43,212,876 (GRCm39) |
C111W |
probably damaging |
Het |
| Or5m5 |
T |
C |
2: 85,814,517 (GRCm39) |
I111T |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,714,673 (GRCm39) |
D183G |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,887 (GRCm39) |
E454G |
probably benign |
Het |
| Prom1 |
G |
A |
5: 44,190,313 (GRCm39) |
Q364* |
probably null |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Sema5b |
A |
G |
16: 35,471,682 (GRCm39) |
D425G |
probably damaging |
Het |
| Slc16a7 |
A |
T |
10: 125,066,560 (GRCm39) |
C360S |
probably benign |
Het |
| Slc38a7 |
T |
A |
8: 96,575,104 (GRCm39) |
I59F |
probably damaging |
Het |
| Slc5a6 |
A |
G |
5: 31,195,372 (GRCm39) |
C449R |
possibly damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,096,269 (GRCm39) |
Y357H |
possibly damaging |
Het |
| Snx17 |
A |
T |
5: 31,353,084 (GRCm39) |
|
probably benign |
Het |
| Stk32b |
A |
C |
5: 37,786,320 (GRCm39) |
M48R |
probably damaging |
Het |
| Tspan9 |
A |
G |
6: 127,944,038 (GRCm39) |
|
probably null |
Het |
| Tst |
A |
T |
15: 78,289,521 (GRCm39) |
N171K |
probably damaging |
Het |
| Vmn1r180 |
T |
A |
7: 23,652,710 (GRCm39) |
I291N |
probably damaging |
Het |
| Vmn2r32 |
T |
A |
7: 7,477,251 (GRCm39) |
D380V |
probably benign |
Het |
| Wdfy4 |
T |
C |
14: 32,790,861 (GRCm39) |
T2189A |
probably benign |
Het |
| Zbtb20 |
A |
G |
16: 43,438,800 (GRCm39) |
N640S |
possibly damaging |
Het |
| Zfp142 |
A |
G |
1: 74,610,193 (GRCm39) |
S1098P |
probably 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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation