Incidental Mutation 'R7982:Atosb'
| ID |
651252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Atosb
|
| Ensembl Gene |
ENSMUSG00000036002 |
| Gene Name |
atos homolog B |
| Synonyms |
B230312A22Rik, Fam214b |
| MMRRC Submission |
046023-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7982 (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 43034483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 371
(T371A)
|
| 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: T371A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038177
Gene: ENSMUSG00000036002
AA Change: T371A
| 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: T371A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103590
Gene: ENSMUSG00000036002
AA Change: T371A
| 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: T371A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103591
Gene: ENSMUSG00000036002
AA Change: T371A
| 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: T371A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103592
Gene: ENSMUSG00000036002
AA Change: T371A
| 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: T371A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103593
Gene: ENSMUSG00000036002
AA Change: T371A
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb6 |
A |
G |
1: 75,150,284 (GRCm39) |
S625P |
probably damaging |
Het |
| Actl6b |
A |
G |
5: 137,561,424 (GRCm39) |
N142S |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,609,397 (GRCm39) |
D1363V |
probably damaging |
Het |
| Aox4 |
A |
C |
1: 58,296,400 (GRCm39) |
L1032F |
possibly damaging |
Het |
| Bcl2l15 |
T |
C |
3: 103,740,158 (GRCm39) |
M4T |
probably damaging |
Het |
| Cand1 |
A |
T |
10: 119,052,378 (GRCm39) |
S242R |
probably damaging |
Het |
| Cant1 |
A |
T |
11: 118,300,968 (GRCm39) |
V229D |
probably benign |
Het |
| Ccdc117 |
A |
G |
11: 5,481,460 (GRCm39) |
S224P |
possibly damaging |
Het |
| Cdc42ep4 |
T |
C |
11: 113,619,402 (GRCm39) |
R330G |
possibly damaging |
Het |
| Cep164 |
T |
C |
9: 45,690,162 (GRCm39) |
E527G |
probably benign |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Cln6 |
A |
C |
9: 62,756,450 (GRCm39) |
K198T |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,549,162 (GRCm39) |
|
probably benign |
Het |
| Cyp1b1 |
T |
C |
17: 80,017,919 (GRCm39) |
Y412C |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,524 (GRCm39) |
L991Q |
probably damaging |
Het |
| Dst |
C |
T |
1: 34,221,621 (GRCm39) |
T2475I |
possibly damaging |
Het |
| Exoc8 |
A |
T |
8: 125,623,149 (GRCm39) |
V406E |
probably damaging |
Het |
| Grk6 |
T |
A |
13: 55,599,519 (GRCm39) |
C201S |
probably damaging |
Het |
| Helz |
T |
C |
11: 107,517,456 (GRCm39) |
V664A |
possibly damaging |
Het |
| Hsd17b11 |
A |
G |
5: 104,151,090 (GRCm39) |
C215R |
possibly damaging |
Het |
| Ift25 |
T |
C |
4: 107,132,480 (GRCm39) |
V89A |
probably benign |
Het |
| Kbtbd12 |
T |
C |
6: 88,595,616 (GRCm39) |
I71M |
possibly damaging |
Het |
| Khdc1a |
A |
T |
1: 21,421,130 (GRCm39) |
H105L |
probably benign |
Het |
| Klf6 |
T |
A |
13: 5,911,822 (GRCm39) |
L62Q |
probably damaging |
Het |
| Mc1r |
A |
G |
8: 124,134,879 (GRCm39) |
R211G |
probably damaging |
Het |
| Nt5m |
T |
A |
11: 59,739,157 (GRCm39) |
W68R |
possibly damaging |
Het |
| Nufip1 |
T |
C |
14: 76,363,679 (GRCm39) |
V301A |
probably benign |
Het |
| Or10ac1 |
T |
A |
6: 42,515,225 (GRCm39) |
T244S |
probably damaging |
Het |
| Or12d14-ps1 |
T |
G |
17: 37,673,502 (GRCm39) |
F165V |
probably damaging |
Het |
| Or2b7 |
T |
C |
13: 21,740,136 (GRCm39) |
N19D |
probably benign |
Het |
| Or51f5 |
A |
T |
7: 102,424,310 (GRCm39) |
D193V |
probably damaging |
Het |
| Or5ac25 |
A |
G |
16: 59,181,927 (GRCm39) |
I218T |
probably benign |
Het |
| Ostn |
T |
C |
16: 27,140,189 (GRCm39) |
|
probably null |
Het |
| Pcdhb6 |
C |
T |
18: 37,467,273 (GRCm39) |
R65* |
probably null |
Het |
| Pds5b |
T |
C |
5: 150,693,406 (GRCm39) |
I706T |
probably damaging |
Het |
| Pgm2 |
T |
G |
5: 64,258,302 (GRCm39) |
Y96D |
probably damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,777,926 (GRCm39) |
T875I |
possibly damaging |
Het |
| Poc1b |
A |
G |
10: 99,000,764 (GRCm39) |
S355G |
probably benign |
Het |
| Ppp6r1 |
A |
C |
7: 4,646,157 (GRCm39) |
D181E |
probably benign |
Het |
| Pstpip2 |
G |
A |
18: 77,967,073 (GRCm39) |
V325M |
probably benign |
Het |
| Rras2 |
A |
T |
7: 113,658,186 (GRCm39) |
V92D |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
GTCTTCTTCTTCTTCTTC |
GTCTTCTTCTTCTTC |
2: 112,499,594 (GRCm39) |
|
probably benign |
Het |
| Stac2 |
T |
A |
11: 97,933,379 (GRCm39) |
M188L |
probably benign |
Het |
| Synrg |
G |
A |
11: 83,910,644 (GRCm39) |
D859N |
probably damaging |
Het |
| Tarbp1 |
A |
T |
8: 127,171,040 (GRCm39) |
S987T |
probably damaging |
Het |
| Tbx20 |
C |
A |
9: 24,685,220 (GRCm39) |
|
probably benign |
Het |
| Trim30d |
G |
T |
7: 104,121,817 (GRCm39) |
N309K |
possibly damaging |
Het |
| Ttc16 |
C |
T |
2: 32,665,047 (GRCm39) |
|
probably benign |
Het |
| Ttc34 |
T |
A |
4: 154,945,875 (GRCm39) |
I303N |
possibly damaging |
Het |
| Ubr4 |
T |
C |
4: 139,155,519 (GRCm39) |
|
probably null |
Het |
| Uros |
A |
T |
7: 133,294,278 (GRCm39) |
S168T |
unknown |
Het |
| Vmn2r6 |
C |
T |
3: 64,467,241 (GRCm39) |
G86D |
probably damaging |
Het |
| Ybx2 |
C |
T |
11: 69,831,448 (GRCm39) |
T295I |
possibly damaging |
Het |
| Zbed5 |
T |
A |
5: 129,929,321 (GRCm39) |
C146S |
possibly damaging |
Het |
| Zcchc2 |
G |
A |
1: 105,958,901 (GRCm39) |
C1124Y |
probably damaging |
Het |
| Zfp626 |
G |
A |
7: 27,510,175 (GRCm39) |
|
probably null |
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 |
|
|
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'- GGACTTGGCTCTACCCTATACTAG -3'
(R):5'- GGGCAACTTTGAGGTAGCTC -3'
Sequencing Primer
(F):5'- TCTTAACCTGACTCACTCCTAGAAG -3'
(R):5'- GCTCCTTTTGGACTTTGTAATTAAGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation