Incidental Mutation 'R9726:Atosb'
| ID |
731024 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosb
|
| Ensembl Gene |
ENSMUSG00000036002 |
| Gene Name |
atos homolog B |
| Synonyms |
B230312A22Rik, Fam214b |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R9726 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43032414-43046220 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43034991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 302
(D302G)
|
| 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 damaging
Transcript: ENSMUST00000036462
AA Change: D302G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: D302G
| 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: D302G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: D302G
| 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: D302G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: D302G
| 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: D302G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: D302G
| 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: D302G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: D302G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610030E20Rik |
T |
C |
6: 72,325,650 (GRCm39) |
V122A |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,998,919 (GRCm39) |
Y226C |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,053,757 (GRCm39) |
K1574R |
probably benign |
Het |
| Apob |
T |
C |
12: 8,056,926 (GRCm39) |
Y1803H |
probably damaging |
Het |
| Bex6 |
A |
T |
16: 32,005,243 (GRCm39) |
D17V |
probably damaging |
Het |
| Cd72 |
T |
G |
4: 43,452,641 (GRCm39) |
|
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,959,936 (GRCm39) |
S117Y |
probably damaging |
Het |
| Cenpx |
A |
G |
11: 120,603,328 (GRCm39) |
L22P |
unknown |
Het |
| Cep135 |
A |
G |
5: 76,741,151 (GRCm39) |
T76A |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,195,395 (GRCm39) |
Q272L |
probably benign |
Het |
| Cul4a |
C |
T |
8: 13,156,208 (GRCm39) |
P55S |
probably benign |
Het |
| Cyp2f2 |
C |
T |
7: 26,821,411 (GRCm39) |
T108I |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,898,948 (GRCm39) |
V806A |
probably benign |
Het |
| Dgki |
T |
C |
6: 37,276,858 (GRCm39) |
H9R |
unknown |
Het |
| Dmxl2 |
A |
T |
9: 54,322,996 (GRCm39) |
S1289T |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,154,374 (GRCm39) |
V1691D |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,835,149 (GRCm39) |
L1280R |
possibly damaging |
Het |
| Dync2h1 |
G |
A |
9: 7,077,999 (GRCm39) |
S2901F |
possibly damaging |
Het |
| Fkbp8 |
A |
G |
8: 70,987,529 (GRCm39) |
K380E |
probably damaging |
Het |
| Ggta1 |
T |
C |
2: 35,292,422 (GRCm39) |
Y295C |
probably damaging |
Het |
| Gm7145 |
A |
G |
1: 117,913,706 (GRCm39) |
N196S |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,448,744 (GRCm39) |
Y364F |
probably benign |
Het |
| Ighv11-1 |
T |
A |
12: 113,945,623 (GRCm39) |
I77L |
probably benign |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,512 (GRCm39) |
V72A |
possibly damaging |
Het |
| Kel |
C |
T |
6: 41,678,971 (GRCm39) |
G164D |
probably damaging |
Het |
| Krba1 |
C |
A |
6: 48,389,298 (GRCm39) |
T606N |
possibly damaging |
Het |
| Lig3 |
T |
C |
11: 82,674,420 (GRCm39) |
L82P |
possibly damaging |
Het |
| Limd1 |
T |
C |
9: 123,308,984 (GRCm39) |
S228P |
probably benign |
Het |
| Mlf2 |
C |
T |
6: 124,911,621 (GRCm39) |
R157W |
probably benign |
Het |
| Naxe |
T |
C |
3: 87,965,719 (GRCm39) |
S27G |
probably benign |
Het |
| Oprm1 |
T |
A |
10: 6,929,694 (GRCm39) |
C345S |
probably benign |
Het |
| Or4c108 |
T |
A |
2: 88,804,221 (GRCm39) |
T5S |
probably benign |
Het |
| Or6c210 |
A |
G |
10: 129,495,920 (GRCm39) |
I82V |
possibly damaging |
Het |
| Oscp1 |
C |
A |
4: 125,970,626 (GRCm39) |
D138E |
probably benign |
Het |
| Panx3 |
T |
A |
9: 37,572,992 (GRCm39) |
Y186F |
probably damaging |
Het |
| Pip5kl1 |
T |
C |
2: 32,473,391 (GRCm39) |
Y343H |
probably damaging |
Het |
| Rasgef1b |
T |
C |
5: 99,382,349 (GRCm39) |
T214A |
probably damaging |
Het |
| Rims1 |
C |
A |
1: 22,669,493 (GRCm39) |
W105L |
probably null |
Het |
| Serpina3f |
C |
T |
12: 104,184,698 (GRCm39) |
P281S |
probably damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,458,418 (GRCm39) |
K20R |
probably benign |
Het |
| Sigirr |
A |
G |
7: 140,672,123 (GRCm39) |
L274P |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,491,410 (GRCm39) |
V49A |
probably benign |
Het |
| Spata31h1 |
T |
C |
10: 82,118,605 (GRCm39) |
S4802G |
unknown |
Het |
| Sstr1 |
G |
A |
12: 58,259,484 (GRCm39) |
D36N |
probably benign |
Het |
| Stab2 |
T |
A |
10: 86,790,095 (GRCm39) |
D557V |
probably benign |
Het |
| Topaz1 |
GCAGGGGGATGAGAAGGTA |
G |
9: 122,603,934 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
CAGGGGGATGAGAAGGTAAAG |
CAG |
9: 122,603,935 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,912,752 (GRCm39) |
Q101K |
unknown |
Het |
| Vmn1r185 |
T |
A |
7: 26,310,783 (GRCm39) |
I241F |
probably damaging |
Het |
| Zfp229 |
T |
A |
17: 21,965,354 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfy1 |
A |
G |
Y: 725,476 (GRCm39) |
F763S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGGGTTGGCTTGAGTATCC -3'
(R):5'- ACCTTGTATGTTATCACACCAGC -3'
Sequencing Primer
(F):5'- GGCTTGAGTATCCTGAGTATTCC -3'
(R):5'- AGTTCACGGTAGCTGACTTCAGAC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation