Incidental Mutation 'R0615:Atosa'
| ID |
55024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosa
|
| Ensembl Gene |
ENSMUSG00000034858 |
| Gene Name |
atos homolog A |
| Synonyms |
C130047D21Rik, Fam214a, 6330415I01Rik, BC031353 |
| MMRRC Submission |
038804-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.451)
|
| Stock # |
R0615 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
74860166-74939750 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74911570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 14
(Y14N)
|
| 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: Y21N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000080442
Gene: ENSMUSG00000034858
AA Change: Y21N
| 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: Y14N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129319
Gene: ENSMUSG00000034858
AA Change: Y14N
| 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: Y14N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215370
AA Change: Y14N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.1824 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933411K16Rik |
T |
C |
19: 42,040,962 (GRCm39) |
I31T |
possibly damaging |
Het |
| Abca13 |
A |
G |
11: 9,206,197 (GRCm39) |
I166V |
probably damaging |
Het |
| Acaa2 |
G |
T |
18: 74,931,517 (GRCm39) |
V238L |
probably benign |
Het |
| Ahsg |
A |
T |
16: 22,717,805 (GRCm39) |
I296F |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,415,027 (GRCm39) |
V1436D |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,115,563 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,059,627 (GRCm39) |
|
probably benign |
Het |
| Aurkc |
A |
T |
7: 7,005,402 (GRCm39) |
I223L |
possibly damaging |
Het |
| Bckdha |
G |
T |
7: 25,341,210 (GRCm39) |
D50E |
probably benign |
Het |
| Brf2 |
C |
T |
8: 27,614,059 (GRCm39) |
E376K |
probably benign |
Het |
| Cdk9 |
C |
A |
2: 32,599,813 (GRCm39) |
L141F |
possibly damaging |
Het |
| Cgn |
A |
C |
3: 94,678,024 (GRCm39) |
|
probably benign |
Het |
| Clcn1 |
G |
A |
6: 42,282,509 (GRCm39) |
V526I |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,334,141 (GRCm39) |
V343A |
possibly damaging |
Het |
| Commd2 |
A |
T |
3: 57,554,116 (GRCm39) |
V195D |
possibly damaging |
Het |
| Cubn |
C |
T |
2: 13,365,063 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
C |
T |
2: 118,266,666 (GRCm39) |
T729M |
probably damaging |
Het |
| Elac1 |
A |
T |
18: 73,871,954 (GRCm39) |
V347E |
probably damaging |
Het |
| Fam209 |
T |
C |
2: 172,316,053 (GRCm39) |
S143P |
probably benign |
Het |
| Fam20c |
G |
A |
5: 138,793,241 (GRCm39) |
R454Q |
probably damaging |
Het |
| Faxc |
C |
T |
4: 21,958,608 (GRCm39) |
S255L |
probably benign |
Het |
| Fem1al |
C |
A |
11: 29,774,515 (GRCm39) |
R314L |
probably damaging |
Het |
| Foxj1 |
T |
C |
11: 116,224,908 (GRCm39) |
D153G |
possibly damaging |
Het |
| Gm6605 |
C |
A |
7: 38,147,699 (GRCm39) |
|
noncoding transcript |
Het |
| Lmo7 |
T |
A |
14: 102,114,295 (GRCm39) |
Y12* |
probably null |
Het |
| Matn3 |
T |
G |
12: 9,013,594 (GRCm39) |
C425W |
probably damaging |
Het |
| Mmd2 |
A |
T |
5: 142,550,668 (GRCm39) |
M190K |
probably benign |
Het |
| Morn2 |
A |
T |
17: 80,603,026 (GRCm39) |
T102S |
probably damaging |
Het |
| Nr3c2 |
A |
C |
8: 77,912,518 (GRCm39) |
T710P |
probably benign |
Het |
| Nrros |
C |
A |
16: 31,962,903 (GRCm39) |
L343F |
probably damaging |
Het |
| Ntrk2 |
C |
T |
13: 59,276,000 (GRCm39) |
Q767* |
probably null |
Het |
| Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
| Or4k47 |
C |
T |
2: 111,452,264 (GRCm39) |
D52N |
possibly damaging |
Het |
| Plekhf2 |
C |
T |
4: 10,991,330 (GRCm39) |
R4H |
probably benign |
Het |
| Ppox |
A |
G |
1: 171,105,387 (GRCm39) |
|
probably benign |
Het |
| Qprt |
T |
A |
7: 126,708,248 (GRCm39) |
D61V |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,215,148 (GRCm39) |
V1101A |
probably benign |
Het |
| Sbno1 |
T |
C |
5: 124,548,202 (GRCm39) |
N124D |
probably damaging |
Het |
| Scx |
C |
T |
15: 76,342,295 (GRCm39) |
P165L |
probably benign |
Het |
| Sema6d |
T |
C |
2: 124,496,055 (GRCm39) |
|
probably benign |
Het |
| Serf2 |
T |
C |
2: 121,281,336 (GRCm39) |
F92L |
probably benign |
Het |
| Synpo2 |
A |
T |
3: 122,910,936 (GRCm39) |
N236K |
probably damaging |
Het |
| Tbc1d32 |
C |
A |
10: 56,100,736 (GRCm39) |
D81Y |
probably benign |
Het |
| Terf2 |
G |
A |
8: 107,809,622 (GRCm39) |
T232I |
possibly damaging |
Het |
| Tpd52l2 |
A |
G |
2: 181,143,744 (GRCm39) |
E50G |
probably damaging |
Het |
| Tprn |
A |
G |
2: 25,154,210 (GRCm39) |
E504G |
probably damaging |
Het |
| Tufm |
G |
T |
7: 126,086,654 (GRCm39) |
R12L |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,947,195 (GRCm39) |
F519S |
probably damaging |
Het |
| Vwa8 |
T |
C |
14: 79,145,590 (GRCm39) |
V89A |
probably benign |
Het |
| Wnt3 |
T |
C |
11: 103,703,207 (GRCm39) |
I230T |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,466,693 (GRCm39) |
F388Y |
probably damaging |
Het |
| Zfp474 |
C |
T |
18: 52,771,421 (GRCm39) |
L25F |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGGCTACACCCTCAGTCTGAGAAAG -3'
(R):5'- AGCTTGTCGCTGCATTCATGTCTG -3'
Sequencing Primer
(F):5'- aagagtgggagacagggag -3'
(R):5'- GCATTCATGTCTGGCCGTTC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation