Incidental Mutation 'R2853:Atosb'
ID |
252383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Atosb
|
Ensembl Gene |
ENSMUSG00000036002 |
Gene Name |
atos homolog B |
Synonyms |
B230312A22Rik, Fam214b |
MMRRC Submission |
040446-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R2853 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43036293 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 146
(L146P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122882
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000135067]
[ENSMUST00000124155]
[ENSMUST00000136326]
[ENSMUST00000144999]
[ENSMUST00000138030]
[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: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038177 Gene: ENSMUSG00000036002 AA Change: L146P
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: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103590 Gene: ENSMUSG00000036002 AA Change: L146P
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: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103591 Gene: ENSMUSG00000036002 AA Change: L146P
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: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103592 Gene: ENSMUSG00000036002 AA Change: L146P
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: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103593 Gene: ENSMUSG00000036002 AA Change: L146P
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 |
probably benign
Transcript: ENSMUST00000135067
AA Change: L146P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000122882 Gene: ENSMUSG00000036002 AA Change: L146P
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 |
noncoding transcript
Transcript: ENSMUST00000180854
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140998
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124155
|
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 |
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: 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abat |
A |
C |
16: 8,418,832 (GRCm39) |
K142T |
probably damaging |
Het |
Als2cl |
T |
C |
9: 110,723,203 (GRCm39) |
S636P |
probably damaging |
Het |
Angptl7 |
T |
C |
4: 148,584,736 (GRCm39) |
E4G |
probably benign |
Het |
Aph1c |
T |
C |
9: 66,741,764 (GRCm39) |
|
probably null |
Het |
Arhgap23 |
T |
C |
11: 97,383,420 (GRCm39) |
|
probably null |
Het |
Arhgef4 |
A |
C |
1: 34,763,129 (GRCm39) |
D795A |
unknown |
Het |
Ccdc85a |
A |
G |
11: 28,342,942 (GRCm39) |
|
probably benign |
Het |
Chchd1 |
T |
C |
14: 20,754,288 (GRCm39) |
S67P |
probably benign |
Het |
Cubn |
C |
T |
2: 13,435,645 (GRCm39) |
V1104I |
probably benign |
Het |
Dennd5a |
A |
T |
7: 109,532,878 (GRCm39) |
N297K |
probably damaging |
Het |
Dnai4 |
T |
C |
4: 102,907,355 (GRCm39) |
I644V |
possibly damaging |
Het |
Egflam |
A |
T |
15: 7,249,182 (GRCm39) |
W879R |
probably damaging |
Het |
Far1 |
T |
C |
7: 113,152,944 (GRCm39) |
Y351H |
possibly damaging |
Het |
Gpr62 |
T |
C |
9: 106,341,911 (GRCm39) |
E339G |
probably benign |
Het |
Hspd1 |
A |
T |
1: 55,120,256 (GRCm39) |
D315E |
probably damaging |
Het |
Ids |
G |
T |
X: 69,396,776 (GRCm39) |
T329K |
probably damaging |
Het |
Itga9 |
G |
A |
9: 118,465,604 (GRCm39) |
E153K |
probably damaging |
Het |
Krt82 |
T |
C |
15: 101,456,870 (GRCm39) |
Y170C |
probably damaging |
Het |
Megf10 |
T |
C |
18: 57,427,003 (GRCm39) |
I1107T |
probably damaging |
Het |
Mre11a |
A |
G |
9: 14,737,843 (GRCm39) |
E599G |
probably benign |
Het |
Mtm1 |
T |
G |
X: 70,345,389 (GRCm39) |
I437S |
probably damaging |
Het |
Ncoa2 |
C |
T |
1: 13,257,113 (GRCm39) |
V129I |
probably damaging |
Het |
Ncs1 |
T |
C |
2: 31,177,329 (GRCm39) |
F169L |
probably damaging |
Het |
Ndst2 |
T |
C |
14: 20,779,964 (GRCm39) |
E92G |
probably damaging |
Het |
Parm1 |
T |
C |
5: 91,742,124 (GRCm39) |
V164A |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,128,526 (GRCm39) |
Q4059R |
probably benign |
Het |
Scgb1b20 |
A |
C |
7: 33,072,949 (GRCm39) |
K52N |
possibly damaging |
Het |
Setbp1 |
T |
A |
18: 78,967,211 (GRCm39) |
Q171L |
probably benign |
Het |
Sik2 |
A |
T |
9: 50,809,597 (GRCm39) |
L612Q |
probably damaging |
Het |
Srprb |
G |
A |
9: 103,076,038 (GRCm39) |
Q800* |
probably null |
Het |
Ss18l1 |
A |
G |
2: 179,699,914 (GRCm39) |
Y258C |
probably damaging |
Het |
Togaram1 |
A |
G |
12: 65,063,386 (GRCm39) |
K1567R |
probably benign |
Het |
Ttc6 |
T |
C |
12: 57,622,967 (GRCm39) |
F122S |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,255,035 (GRCm39) |
M550L |
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 |
|
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 |
|
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'- CATTGGCAGTTCCATGGGAC -3'
(R):5'- GGGTCTACCAGGTATCCATCTTTTC -3'
Sequencing Primer
(F):5'- AGTTCCATGGGACTCCCTAG -3'
(R):5'- TTCAGCTGGTGCCTCCGAG -3'
|
Posted On |
2014-12-04 |