Incidental Mutation 'R4105:Atosa'
| ID |
321353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosa
|
| Ensembl Gene |
ENSMUSG00000034858 |
| Gene Name |
atos homolog A |
| Synonyms |
C130047D21Rik, Fam214a, 6330415I01Rik, BC031353 |
| MMRRC Submission |
040985-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.539)
|
| Stock # |
R4105 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74860166-74939750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74916058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 226
(Q226R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080442
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081746]
[ENSMUST00000170846]
[ENSMUST00000214755]
[ENSMUST00000215370]
|
| AlphaFold |
Q69ZK7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081746
AA Change: Q226R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: Q226R
| 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: Q219R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: Q219R
| 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: Q219R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215370
AA Change: Q219R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1598 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (46/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adar |
T |
C |
3: 89,647,401 (GRCm39) |
S127P |
probably benign |
Het |
| Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,243 (GRCm39) |
S266G |
possibly damaging |
Het |
| Atg9a |
A |
G |
1: 75,162,603 (GRCm39) |
Y471H |
probably damaging |
Het |
| Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
| Cel |
T |
C |
2: 28,448,039 (GRCm39) |
D329G |
probably benign |
Het |
| Ces2f |
T |
C |
8: 105,677,824 (GRCm39) |
|
probably null |
Het |
| Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
| Dchs1 |
A |
C |
7: 105,414,347 (GRCm39) |
S823A |
probably damaging |
Het |
| Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
| Eif2b3 |
G |
A |
4: 116,938,831 (GRCm39) |
G427R |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
| Fat1 |
A |
G |
8: 45,489,888 (GRCm39) |
Y3600C |
probably damaging |
Het |
| Fbxo10 |
A |
G |
4: 45,059,054 (GRCm39) |
F228L |
probably benign |
Het |
| Fgf7 |
T |
A |
2: 125,877,599 (GRCm39) |
|
probably benign |
Het |
| Gm2832 |
A |
T |
14: 41,002,856 (GRCm39) |
M122L |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,615,388 (GRCm39) |
V73A |
probably benign |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Naip5 |
T |
C |
13: 100,356,247 (GRCm39) |
R1123G |
probably benign |
Het |
| Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
| Or2o1 |
A |
G |
11: 49,051,375 (GRCm39) |
H178R |
possibly damaging |
Het |
| Pikfyve |
A |
G |
1: 65,229,679 (GRCm39) |
|
probably benign |
Het |
| Pnma8a |
T |
C |
7: 16,695,104 (GRCm39) |
S320P |
possibly damaging |
Het |
| Polr1a |
A |
G |
6: 71,953,175 (GRCm39) |
N1581S |
probably damaging |
Het |
| Polrmt |
G |
T |
10: 79,577,567 (GRCm39) |
T344K |
probably benign |
Het |
| Postn |
T |
C |
3: 54,283,462 (GRCm39) |
F514L |
probably damaging |
Het |
| Ptprq |
G |
T |
10: 107,408,828 (GRCm39) |
T1895N |
probably damaging |
Het |
| Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
| Slco2a1 |
T |
A |
9: 102,945,075 (GRCm39) |
L150Q |
probably benign |
Het |
| Slco2a1 |
T |
C |
9: 102,950,449 (GRCm39) |
F347S |
probably damaging |
Het |
| Smim13 |
T |
A |
13: 41,426,127 (GRCm39) |
D54E |
probably benign |
Het |
| Snrnp200 |
T |
A |
2: 127,069,936 (GRCm39) |
I1027N |
probably damaging |
Het |
| Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
| Tas1r2 |
G |
A |
4: 139,387,363 (GRCm39) |
R245H |
probably benign |
Het |
| Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,181,265 (GRCm39) |
I429T |
probably damaging |
Het |
| Trip11 |
G |
A |
12: 101,860,581 (GRCm39) |
R254* |
probably null |
Het |
| Vmn2r65 |
A |
G |
7: 84,595,691 (GRCm39) |
V331A |
probably benign |
Het |
| Ypel3 |
T |
C |
7: 126,377,265 (GRCm39) |
S82P |
probably damaging |
Het |
| Zfp128 |
T |
C |
7: 12,618,667 (GRCm39) |
L55P |
probably damaging |
Het |
| Zscan4e |
T |
C |
7: 11,041,437 (GRCm39) |
D173G |
probably benign |
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 |
|
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'- ACAGAGGGGCAGCTTATGAC -3'
(R):5'- TCTAATGGCTGCAGTGTACTCG -3'
Sequencing Primer
(F):5'- AGGGGCAGCTTATGACTGATC -3'
(R):5'- ATGCCACTTCTGACGTGCAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation