Incidental Mutation 'BB010:Atosb'
| ID |
642570 |
| 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: 0.143)
|
| Stock # |
BB010
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43032414-43046220 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 43035919 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 271
(C271S)
|
| 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 |
probably benign
Transcript: ENSMUST00000036462
AA Change: C271S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: C271S
| 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 benign
Transcript: ENSMUST00000107956
AA Change: C271S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: C271S
| 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 benign
Transcript: ENSMUST00000107957
AA Change: C271S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: C271S
| 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 benign
Transcript: ENSMUST00000107958
AA Change: C271S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: C271S
| 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 benign
Transcript: ENSMUST00000107959
AA Change: C271S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: C271S
| 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
AA Change: C271S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000122882
Gene: ENSMUSG00000036002
AA Change: C271S
| 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: 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933414I15Rik |
A |
G |
11: 50,942,400 (GRCm38) |
V125A |
unknown |
Het |
| Adam34 |
T |
A |
8: 43,650,874 (GRCm38) |
H578L |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,507,018 (GRCm38) |
M678K |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,995,066 (GRCm38) |
L1150P |
probably damaging |
Het |
| Camta1 |
C |
T |
4: 151,083,757 (GRCm38) |
E279K |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,945,490 (GRCm38) |
D695G |
possibly damaging |
Het |
| Col11a2 |
A |
T |
17: 34,056,055 (GRCm38) |
K400* |
probably null |
Het |
| Cpsf4 |
T |
A |
5: 145,167,358 (GRCm38) |
M1K |
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,766,115 (GRCm38) |
Q992L |
probably benign |
Het |
| Dnajc7 |
T |
C |
11: 100,596,212 (GRCm38) |
Y145C |
probably damaging |
Het |
| Eml5 |
A |
T |
12: 98,844,020 (GRCm38) |
D892E |
possibly damaging |
Het |
| Fam193a |
A |
G |
5: 34,466,195 (GRCm38) |
K23E |
possibly damaging |
Het |
| Filip1 |
T |
G |
9: 79,820,047 (GRCm38) |
K430T |
possibly damaging |
Het |
| Gm5089 |
T |
C |
14: 122,435,991 (GRCm38) |
D106G |
unknown |
Het |
| Hip1 |
A |
T |
5: 135,460,456 (GRCm38) |
N45K |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,127,837 (GRCm38) |
S60P |
probably damaging |
Het |
| Ighv1-53 |
A |
T |
12: 115,158,409 (GRCm38) |
C115* |
probably null |
Het |
| Macf1 |
T |
C |
4: 123,409,651 (GRCm38) |
T353A |
probably benign |
Het |
| Mast3 |
A |
T |
8: 70,786,635 (GRCm38) |
V433E |
probably damaging |
Het |
| Mast4 |
A |
T |
13: 102,772,563 (GRCm38) |
M660K |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,563,383 (GRCm38) |
Y380C |
probably damaging |
Het |
| Or10g9b |
T |
C |
9: 40,007,135 (GRCm38) |
|
probably benign |
Het |
| Or5b111 |
T |
A |
19: 13,314,205 (GRCm38) |
M27L |
probably benign |
Het |
| Otog |
A |
G |
7: 46,310,147 (GRCm38) |
D720G |
probably damaging |
Het |
| Slc6a1 |
T |
A |
6: 114,311,898 (GRCm38) |
W473R |
probably damaging |
Het |
| Smpd3 |
A |
C |
8: 106,255,622 (GRCm38) |
C617G |
probably benign |
Het |
| Spata31d1e |
A |
G |
13: 59,743,751 (GRCm38) |
L85P |
probably damaging |
Het |
| Sprr3 |
T |
C |
3: 92,457,208 (GRCm38) |
I110V |
possibly damaging |
Het |
| Ston1 |
A |
G |
17: 88,636,144 (GRCm38) |
E326G |
probably benign |
Het |
| Tapbpl |
T |
G |
6: 125,230,270 (GRCm38) |
Q152P |
probably damaging |
Het |
| Tectb |
C |
T |
19: 55,194,673 (GRCm38) |
L319F |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 43,960,961 (GRCm38) |
G413D |
probably damaging |
Het |
| Tpsg1 |
A |
G |
17: 25,373,204 (GRCm38) |
H84R |
probably damaging |
Het |
| Usp24 |
A |
G |
4: 106,428,489 (GRCm38) |
N2437S |
probably benign |
Het |
| Usp32 |
T |
C |
11: 85,007,059 (GRCm38) |
Q1152R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,559,803 (GRCm38) |
T92A |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,707,348 (GRCm38) |
V35A |
probably benign |
Het |
| Zan |
T |
A |
5: 137,463,579 (GRCm38) |
T1113S |
unknown |
Het |
| Zfp169 |
A |
G |
13: 48,490,481 (GRCm38) |
V390A |
unknown |
Het |
|
| Other mutations in Atosb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02268:Atosb
|
APN |
4 |
43,036,468 (GRCm38) |
nonsense |
probably null |
|
|
IGL02810:Atosb
|
APN |
4 |
43,034,429 (GRCm38) |
missense |
probably damaging |
1.00 |
|
BB020:Atosb
|
UTSW |
4 |
43,035,919 (GRCm38) |
missense |
probably benign |
|
|
PIT4431001:Atosb
|
UTSW |
4 |
43,036,024 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0049:Atosb
|
UTSW |
4 |
43,036,441 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0049:Atosb
|
UTSW |
4 |
43,036,441 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0565:Atosb
|
UTSW |
4 |
43,034,647 (GRCm38) |
unclassified |
probably benign |
|
|
R0627:Atosb
|
UTSW |
4 |
43,036,242 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1121:Atosb
|
UTSW |
4 |
43,034,947 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2395:Atosb
|
UTSW |
4 |
43,035,964 (GRCm38) |
nonsense |
probably null |
|
|
R2853:Atosb
|
UTSW |
4 |
43,036,293 (GRCm38) |
missense |
probably benign |
|
|
R3878:Atosb
|
UTSW |
4 |
43,035,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4688:Atosb
|
UTSW |
4 |
43,034,663 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6467:Atosb
|
UTSW |
4 |
43,033,687 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6556:Atosb
|
UTSW |
4 |
43,033,896 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7107:Atosb
|
UTSW |
4 |
43,036,434 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7608:Atosb
|
UTSW |
4 |
43,036,533 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7933:Atosb
|
UTSW |
4 |
43,035,919 (GRCm38) |
missense |
probably benign |
|
|
R7982:Atosb
|
UTSW |
4 |
43,034,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8017:Atosb
|
UTSW |
4 |
43,034,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8328:Atosb
|
UTSW |
4 |
43,034,751 (GRCm38) |
missense |
probably benign |
|
|
R8715:Atosb
|
UTSW |
4 |
43,033,944 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R8792:Atosb
|
UTSW |
4 |
43,033,546 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8837:Atosb
|
UTSW |
4 |
43,034,531 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9530:Atosb
|
UTSW |
4 |
43,034,753 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9717:Atosb
|
UTSW |
4 |
43,036,050 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9726:Atosb
|
UTSW |
4 |
43,034,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCCTTCGAACTCTCCGGAAG -3'
(R):5'- ACACACTTGACACTGATTTGCAC -3'
Sequencing Primer
(F):5'- TTGCCTGGGATACATAAGACC -3'
(R):5'- GACACTGATTTGCACAATCTTGC -3'
|
| Posted On |
2020-08-01 |
Incidental Mutation