Incidental Mutation 'P0026:Bud13'
| ID |
8072 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bud13
|
| Ensembl Gene |
ENSMUSG00000032077 |
| Gene Name |
BUD13 homolog |
| Synonyms |
D030060M11Rik |
| MMRRC Submission |
038279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
P0026 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
46194281-46210084 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46199656 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 339
(H339R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074490
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074957]
[ENSMUST00000213932]
|
| AlphaFold |
Q8R149 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074957
AA Change: H339R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077
AA Change: H339R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
48 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
120 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
122 |
182 |
5.18e-30 |
PROSPERO |
|
internal_repeat_1
|
174 |
234 |
5.18e-30 |
PROSPERO |
|
low complexity region
|
394 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
420 |
434 |
N/A |
INTRINSIC |
|
Pfam:Bud13
|
478 |
620 |
2.8e-52 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124887
AA Change: H37R
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138498
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154247
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213338
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213932
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 85.6%
- 3x: 78.9%
- 10x: 59.5%
- 20x: 38.1%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,492,882 (GRCm39) |
N182D |
probably benign |
Het |
| Acad10 |
T |
C |
5: 121,775,415 (GRCm39) |
Y429C |
probably damaging |
Het |
| Aifm3 |
A |
T |
16: 17,324,981 (GRCm39) |
|
probably benign |
Het |
| Cpa1 |
T |
A |
6: 30,640,905 (GRCm39) |
M132K |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,865,963 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
T |
7: 105,407,612 (GRCm39) |
N2073K |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,355,773 (GRCm39) |
N2227K |
probably damaging |
Het |
| Dnpep |
C |
T |
1: 75,285,329 (GRCm39) |
V468I |
probably benign |
Het |
| Elf3 |
A |
G |
1: 135,183,711 (GRCm39) |
|
probably null |
Het |
| Fam124a |
T |
G |
14: 62,843,571 (GRCm39) |
L360V |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,667 (GRCm39) |
|
probably null |
Het |
| Fermt3 |
A |
G |
19: 6,991,792 (GRCm39) |
S140P |
probably damaging |
Het |
| Gm10440 |
T |
C |
5: 54,513,511 (GRCm39) |
|
noncoding transcript |
Het |
| Il12rb1 |
A |
G |
8: 71,265,185 (GRCm39) |
D167G |
probably damaging |
Het |
| Ints8 |
T |
A |
4: 11,225,788 (GRCm39) |
K590* |
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,382,150 (GRCm39) |
F500S |
probably damaging |
Het |
| Mrm3 |
T |
C |
11: 76,138,326 (GRCm39) |
V238A |
probably damaging |
Het |
| Rap1gap2 |
A |
G |
11: 74,458,036 (GRCm39) |
|
probably benign |
Het |
| Rusc2 |
T |
A |
4: 43,415,840 (GRCm39) |
V382E |
possibly damaging |
Het |
| Slc9a5 |
A |
G |
8: 106,081,923 (GRCm39) |
N216S |
probably damaging |
Het |
| Snx7 |
A |
T |
3: 117,633,672 (GRCm39) |
F63I |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,994 (GRCm39) |
|
probably benign |
Het |
| Tenm4 |
T |
C |
7: 96,523,734 (GRCm39) |
Y1751H |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,824,931 (GRCm39) |
P366S |
probably damaging |
Het |
| Trim17 |
A |
G |
11: 58,862,084 (GRCm39) |
D372G |
possibly damaging |
Het |
| Zfp354a |
G |
A |
11: 50,952,325 (GRCm39) |
G85R |
probably null |
Het |
|
| Other mutations in Bud13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02323:Bud13
|
APN |
9 |
46,194,350 (GRCm39) |
missense |
probably benign |
|
|
R1587:Bud13
|
UTSW |
9 |
46,201,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1808:Bud13
|
UTSW |
9 |
46,199,705 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1840:Bud13
|
UTSW |
9 |
46,197,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2517:Bud13
|
UTSW |
9 |
46,199,446 (GRCm39) |
missense |
probably benign |
0.39 |
|
R3838:Bud13
|
UTSW |
9 |
46,201,490 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4194:Bud13
|
UTSW |
9 |
46,209,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:Bud13
|
UTSW |
9 |
46,199,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5510:Bud13
|
UTSW |
9 |
46,203,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5761:Bud13
|
UTSW |
9 |
46,199,350 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7248:Bud13
|
UTSW |
9 |
46,194,413 (GRCm39) |
nonsense |
probably null |
|
|
R7420:Bud13
|
UTSW |
9 |
46,199,113 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7432:Bud13
|
UTSW |
9 |
46,198,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7444:Bud13
|
UTSW |
9 |
46,209,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8352:Bud13
|
UTSW |
9 |
46,199,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8353:Bud13
|
UTSW |
9 |
46,199,499 (GRCm39) |
missense |
probably benign |
|
|
R8452:Bud13
|
UTSW |
9 |
46,199,377 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8453:Bud13
|
UTSW |
9 |
46,199,499 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Bud13
|
UTSW |
9 |
46,203,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-11-20 |
Incidental Mutation