Incidental Mutation 'R6556:Atosb'
| ID |
522144 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosb
|
| Ensembl Gene |
ENSMUSG00000036002 |
| Gene Name |
atos homolog B |
| Synonyms |
B230312A22Rik, Fam214b |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 43033896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 460
(R460H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000124155]
[ENSMUST00000152846]
[ENSMUST00000138030]
[ENSMUST00000135067]
[ENSMUST00000136326]
[ENSMUST00000144999]
|
| AlphaFold |
Q8BR27 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030169
|
| SMART Domains |
Protein: ENSMUSP00000030169
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
16 |
N/A |
INTRINSIC |
|
PHB
|
36 |
194 |
1.47e-57 |
SMART |
|
coiled coil region
|
231 |
252 |
N/A |
INTRINSIC |
|
Pfam:Band_7_C
|
259 |
321 |
2.1e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036462
AA Change: R460H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107956
AA Change: R460H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107957
AA Change: R460H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107958
AA Change: R460H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
479 |
537 |
8.8e-22 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107959
AA Change: R460H
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: R460H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
345 |
N/A |
INTRINSIC |
|
DUF4210
|
348 |
406 |
9.25e-30 |
SMART |
|
Pfam:Chromosome_seg
|
480 |
537 |
8.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123465
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135660
|
| SMART Domains |
Protein: ENSMUSP00000123478
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
2 |
153 |
4.16e-39 |
SMART |
|
coiled coil region
|
189 |
210 |
N/A |
INTRINSIC |
|
Pfam:Band_7_C
|
218 |
280 |
3.6e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152846
|
| SMART Domains |
Protein: ENSMUSP00000118228
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138030
|
| SMART Domains |
Protein: ENSMUSP00000118465
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
PHB
|
42 |
200 |
1.47e-57 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125180
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135067
|
| SMART Domains |
Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
239 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136326
|
| SMART Domains |
Protein: ENSMUSP00000117586
Gene: ENSMUSG00000028455
| Domain | Start | End | E-Value | Type |
|---|
|
PHB
|
1 |
148 |
1.33e-37 |
SMART |
|
coiled coil region
|
185 |
206 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144999
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180854
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,707,838 (GRCm39) |
|
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,576 (GRCm39) |
E110G |
probably damaging |
Het |
| Tpm1 |
T |
A |
9: 66,935,451 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,330,403 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,681,870 (GRCm39) |
Y107H |
probably benign |
Het |
|
| Other mutations in Atosb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:Atosb
|
APN |
4 |
43,036,468 (GRCm39) |
nonsense |
probably null |
|
|
IGL02810:Atosb
|
APN |
4 |
43,034,429 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB010:Atosb
|
UTSW |
4 |
43,035,919 (GRCm39) |
missense |
probably benign |
|
|
BB020:Atosb
|
UTSW |
4 |
43,035,919 (GRCm39) |
missense |
probably benign |
|
|
PIT4431001:Atosb
|
UTSW |
4 |
43,036,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Atosb
|
UTSW |
4 |
43,036,441 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0049:Atosb
|
UTSW |
4 |
43,036,441 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0565:Atosb
|
UTSW |
4 |
43,034,647 (GRCm39) |
unclassified |
probably benign |
|
|
R0627:Atosb
|
UTSW |
4 |
43,036,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1121:Atosb
|
UTSW |
4 |
43,034,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2395:Atosb
|
UTSW |
4 |
43,035,964 (GRCm39) |
nonsense |
probably null |
|
|
R2853:Atosb
|
UTSW |
4 |
43,036,293 (GRCm39) |
missense |
probably benign |
|
|
R3878:Atosb
|
UTSW |
4 |
43,035,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4688:Atosb
|
UTSW |
4 |
43,034,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Atosb
|
UTSW |
4 |
43,033,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7107:Atosb
|
UTSW |
4 |
43,036,434 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7608:Atosb
|
UTSW |
4 |
43,036,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7933:Atosb
|
UTSW |
4 |
43,035,919 (GRCm39) |
missense |
probably benign |
|
|
R7982:Atosb
|
UTSW |
4 |
43,034,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Atosb
|
UTSW |
4 |
43,034,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Atosb
|
UTSW |
4 |
43,034,751 (GRCm39) |
missense |
probably benign |
|
|
R8715:Atosb
|
UTSW |
4 |
43,033,944 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8792:Atosb
|
UTSW |
4 |
43,033,546 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8837:Atosb
|
UTSW |
4 |
43,034,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9530:Atosb
|
UTSW |
4 |
43,034,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Atosb
|
UTSW |
4 |
43,036,050 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9726:Atosb
|
UTSW |
4 |
43,034,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCTCCATGCAGGCTTAAGC -3'
(R):5'- CCATCCAAGTGGTGAGTGAC -3'
Sequencing Primer
(F):5'- TGTGAGCACGTCAGCATC -3'
(R):5'- ATCAGTCAGTAGGCCCTAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation