Incidental Mutation 'R1121:Atosb'
| ID |
95602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosb
|
| Ensembl Gene |
ENSMUSG00000036002 |
| Gene Name |
atos homolog B |
| Synonyms |
B230312A22Rik, Fam214b |
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R1121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43034947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 317
(K317E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103593
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030169]
[ENSMUST00000036462]
[ENSMUST00000107956]
[ENSMUST00000107957]
[ENSMUST00000107958]
[ENSMUST00000107959]
[ENSMUST00000152846]
[ENSMUST00000144999]
[ENSMUST00000124155]
[ENSMUST00000136326]
[ENSMUST00000138030]
[ENSMUST00000135067]
|
| 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: K317E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: K317E
| 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: K317E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: K317E
| 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: K317E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: K317E
| 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: K317E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: K317E
| 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: K317E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: K317E
| 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: ENSMUST00000140998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127645
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142781
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180854
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143371
|
| 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 |
probably benign
Transcript: ENSMUST00000144999
|
| 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: 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 |
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 |
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
| Islr |
T |
C |
9: 58,065,045 (GRCm39) |
N154S |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGTTGGCTTGAGTATCCTGAG -3'
(R):5'- TGTAGATTGAACCCAAGGCTGTGTG -3'
Sequencing Primer
(F):5'- AGTATTCCTGTTCCCAGTCCTTG -3'
(R):5'- gtctcaaatagccttcaaactctc -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation