Incidental Mutation 'R8715:Atosb'
ID |
669804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atosb
|
Ensembl Gene |
ENSMUSG00000036002 |
Gene Name |
atos homolog B |
Synonyms |
B230312A22Rik, Fam214b |
MMRRC Submission |
068613-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R8715 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43033944 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 444
(V444A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038177
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000124155]
[ENSMUST00000135067]
[ENSMUST00000136326]
[ENSMUST00000138030]
[ENSMUST00000144999]
[ENSMUST00000152846]
|
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 |
possibly damaging
Transcript: ENSMUST00000036462
AA Change: V444A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038177 Gene: ENSMUSG00000036002 AA Change: V444A
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 |
possibly damaging
Transcript: ENSMUST00000107956
AA Change: V444A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103590 Gene: ENSMUSG00000036002 AA Change: V444A
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 |
possibly damaging
Transcript: ENSMUST00000107957
AA Change: V444A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103591 Gene: ENSMUSG00000036002 AA Change: V444A
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 |
possibly damaging
Transcript: ENSMUST00000107958
AA Change: V444A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103592 Gene: ENSMUSG00000036002 AA Change: V444A
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 |
possibly damaging
Transcript: ENSMUST00000107959
AA Change: V444A
PolyPhen 2
Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000103593 Gene: ENSMUSG00000036002 AA Change: V444A
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 |
probably benign
Transcript: ENSMUST00000124155
|
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 |
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: 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: 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 |
probably benign
Transcript: ENSMUST00000144999
|
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 |
|
Meta Mutation Damage Score |
0.5013 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (50/50) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
T |
5: 8,862,750 (GRCm39) |
H144L |
probably benign |
Het |
Adam25 |
A |
G |
8: 41,207,099 (GRCm39) |
N122D |
probably benign |
Het |
Armc10 |
T |
C |
5: 21,858,516 (GRCm39) |
F187S |
possibly damaging |
Het |
Best3 |
T |
A |
10: 116,828,971 (GRCm39) |
F84I |
probably damaging |
Het |
Card11 |
A |
T |
5: 140,871,315 (GRCm39) |
D729E |
probably benign |
Het |
Ccdc60 |
A |
T |
5: 116,328,153 (GRCm39) |
F104I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cd209d |
CAT |
C |
8: 3,923,772 (GRCm39) |
|
probably null |
Het |
Cdhr4 |
G |
A |
9: 107,874,596 (GRCm39) |
V9M |
|
Het |
Cfap46 |
T |
C |
7: 139,185,560 (GRCm39) |
T41A |
|
Het |
Cyp2c66 |
A |
G |
19: 39,159,388 (GRCm39) |
T280A |
probably benign |
Het |
Dis3l |
C |
T |
9: 64,214,342 (GRCm39) |
D1049N |
probably benign |
Het |
Dlc1 |
T |
A |
8: 37,405,795 (GRCm39) |
|
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,299 (GRCm39) |
T526A |
probably benign |
Het |
Gimap6 |
A |
T |
6: 48,679,552 (GRCm39) |
D161E |
probably damaging |
Het |
Gmpr |
T |
C |
13: 45,696,102 (GRCm39) |
V282A |
possibly damaging |
Het |
Gsap |
A |
G |
5: 21,431,245 (GRCm39) |
I190V |
possibly damaging |
Het |
Gucy2d |
C |
T |
7: 98,093,319 (GRCm39) |
T232I |
probably benign |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lrp1 |
C |
A |
10: 127,396,490 (GRCm39) |
S2358I |
possibly damaging |
Het |
Lrrc74a |
A |
G |
12: 86,805,239 (GRCm39) |
N354D |
probably damaging |
Het |
Mdga2 |
T |
C |
12: 66,915,526 (GRCm39) |
E112G |
probably damaging |
Het |
Msh6 |
C |
T |
17: 88,293,195 (GRCm39) |
T650I |
probably benign |
Het |
Mst1 |
T |
C |
9: 107,959,242 (GRCm39) |
V203A |
possibly damaging |
Het |
Muc1 |
G |
A |
3: 89,138,821 (GRCm39) |
V477M |
possibly damaging |
Het |
Naa11 |
A |
G |
5: 97,540,066 (GRCm39) |
Y31H |
probably damaging |
Het |
Nphp1 |
G |
T |
2: 127,605,729 (GRCm39) |
H365Q |
possibly damaging |
Het |
Or1p4-ps1 |
T |
A |
11: 74,207,986 (GRCm39) |
I45N |
probably damaging |
Het |
Or2y17 |
A |
T |
11: 49,232,154 (GRCm39) |
Y265F |
probably damaging |
Het |
Or5m13 |
G |
A |
2: 85,748,273 (GRCm39) |
M1I |
probably null |
Het |
Osbpl9 |
A |
G |
4: 108,959,773 (GRCm39) |
F15S |
probably benign |
Het |
Pcdha12 |
A |
C |
18: 37,153,523 (GRCm39) |
N81H |
probably damaging |
Het |
Pde4d |
A |
G |
13: 110,071,876 (GRCm39) |
Q290R |
probably benign |
Het |
Pla1a |
A |
T |
16: 38,230,000 (GRCm39) |
N237K |
probably damaging |
Het |
Podnl1 |
T |
C |
8: 84,855,956 (GRCm39) |
Y239H |
|
Het |
Pou4f3 |
G |
T |
18: 42,528,593 (GRCm39) |
D179Y |
possibly damaging |
Het |
Ptch2 |
T |
C |
4: 116,968,719 (GRCm39) |
V995A |
probably damaging |
Het |
Ptprt |
C |
T |
2: 161,372,463 (GRCm39) |
C1403Y |
probably damaging |
Het |
Rab7 |
T |
C |
6: 87,989,369 (GRCm39) |
S34G |
probably damaging |
Het |
Rspry1 |
A |
G |
8: 95,349,888 (GRCm39) |
E92G |
probably damaging |
Het |
Sdccag8 |
T |
A |
1: 176,773,803 (GRCm39) |
|
probably benign |
Het |
Sdk2 |
G |
A |
11: 113,671,728 (GRCm39) |
T2140M |
probably damaging |
Het |
Serpina1e |
T |
C |
12: 103,917,177 (GRCm39) |
N164S |
probably benign |
Het |
Shisal1 |
A |
C |
15: 84,301,346 (GRCm39) |
V99G |
probably damaging |
Het |
Tdrkh |
T |
C |
3: 94,331,968 (GRCm39) |
V131A |
probably damaging |
Het |
Tm9sf3 |
T |
A |
19: 41,244,724 (GRCm39) |
N51I |
probably damaging |
Het |
Trav4-3 |
A |
G |
14: 53,836,762 (GRCm39) |
N76D |
possibly damaging |
Het |
Trhr2 |
T |
A |
8: 123,085,619 (GRCm39) |
I122F |
probably damaging |
Het |
Tyw1 |
G |
A |
5: 130,298,065 (GRCm39) |
R202Q |
probably damaging |
Het |
Vmn2r99 |
A |
T |
17: 19,613,922 (GRCm39) |
|
probably benign |
Het |
Zfp663 |
T |
C |
2: 165,194,644 (GRCm39) |
E525G |
probably damaging |
Het |
Zfp976 |
C |
T |
7: 42,262,869 (GRCm39) |
E324K |
possibly damaging |
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 |
R6556:Atosb
|
UTSW |
4 |
43,033,896 (GRCm39) |
missense |
probably damaging |
0.96 |
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 |
|
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'- TTACAGTGTGCCCAAGGTGG -3'
Sequencing Primer
(F):5'- TGTGAGCACGTCAGCATC -3'
(R):5'- GGCACCATCCAAGTGGTGAG -3'
|
Posted On |
2021-04-30 |