Incidental Mutation 'IGL02810:Atosb'
| ID |
360552 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02810
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 43034429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 389
(V389F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000135067]
[ENSMUST00000152846]
[ENSMUST00000136326]
[ENSMUST00000144999]
[ENSMUST00000124155]
[ENSMUST00000138030]
|
| 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: V389F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: V389F
| 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: V389F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: V389F
| 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: V389F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: V389F
| 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: V389F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: V389F
| 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: V389F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: V389F
| 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: ENSMUST00000127645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125180
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153203
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126026
|
| 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: ENSMUST00000152846
|
| SMART Domains |
Protein: ENSMUSP00000118228
Gene: ENSMUSG00000036002
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
100 |
112 |
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: ENSMUST00000144999
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124155
|
| 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: 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: ENSMUST00000180854
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
T |
C |
5: 113,249,401 (GRCm39) |
K1491E |
probably damaging |
Het |
| Abi3bp |
T |
C |
16: 56,498,138 (GRCm39) |
S696P |
probably damaging |
Het |
| Ago1 |
A |
G |
4: 126,336,886 (GRCm39) |
V273A |
probably benign |
Het |
| Bbs2 |
A |
G |
8: 94,813,539 (GRCm39) |
Y213H |
probably benign |
Het |
| Car10 |
T |
A |
11: 93,469,522 (GRCm39) |
Y142N |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,799,016 (GRCm39) |
K415E |
possibly damaging |
Het |
| Exoc3l |
A |
T |
8: 106,021,980 (GRCm39) |
I41N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 16,288,146 (GRCm39) |
D459G |
probably damaging |
Het |
| Gabbr1 |
T |
C |
17: 37,373,654 (GRCm39) |
F401L |
probably damaging |
Het |
| Galnt10 |
G |
A |
11: 57,616,412 (GRCm39) |
R109Q |
probably damaging |
Het |
| Gpr108 |
C |
T |
17: 57,549,742 (GRCm39) |
D265N |
probably benign |
Het |
| Helb |
T |
C |
10: 119,927,608 (GRCm39) |
N834S |
possibly damaging |
Het |
| Igkv8-30 |
A |
G |
6: 70,094,342 (GRCm39) |
V23A |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,570,662 (GRCm39) |
K271N |
possibly damaging |
Het |
| Klhl17 |
T |
C |
4: 156,318,514 (GRCm39) |
E36G |
possibly damaging |
Het |
| Klrb1b |
A |
G |
6: 128,795,430 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
G |
A |
1: 9,743,340 (GRCm39) |
P571S |
probably damaging |
Het |
| Mybl1 |
T |
C |
1: 9,748,613 (GRCm39) |
T328A |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,652,135 (GRCm39) |
D873E |
probably damaging |
Het |
| Nms |
T |
C |
1: 38,987,725 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Nrde2 |
A |
T |
12: 100,110,017 (GRCm39) |
M338K |
possibly damaging |
Het |
| Oasl2 |
T |
A |
5: 115,035,852 (GRCm39) |
F43I |
probably damaging |
Het |
| Oxr1 |
G |
A |
15: 41,676,979 (GRCm39) |
V91I |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,613,942 (GRCm39) |
C503Y |
probably benign |
Het |
| Polr2m |
A |
T |
9: 71,390,848 (GRCm39) |
I14K |
probably benign |
Het |
| Ppara |
T |
C |
15: 85,661,878 (GRCm39) |
S40P |
probably damaging |
Het |
| Shisa6 |
T |
A |
11: 66,115,774 (GRCm39) |
T288S |
possibly damaging |
Het |
| Slc26a5 |
T |
C |
5: 22,018,381 (GRCm39) |
|
probably benign |
Het |
| Spag1 |
A |
G |
15: 36,234,693 (GRCm39) |
N818D |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,120,835 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
C |
T |
5: 122,380,664 (GRCm39) |
|
probably null |
Het |
| Triobp |
A |
G |
15: 78,886,403 (GRCm39) |
N507S |
possibly damaging |
Het |
| Tut7 |
A |
G |
13: 59,929,830 (GRCm39) |
|
probably null |
Het |
| Ugt2b34 |
C |
A |
5: 87,054,383 (GRCm39) |
V133L |
probably benign |
Het |
| Yju2b |
A |
G |
8: 84,990,997 (GRCm39) |
|
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation