Incidental Mutation 'IGL02555:Begain'
| ID |
298483 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Begain
|
| Ensembl Gene |
ENSMUSG00000040867 |
| Gene Name |
brain-enriched guanylate kinase-associated |
| Synonyms |
LOC380785 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02555
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108998113-109034143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 109000115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 219
(S219P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140393
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000190647]
[ENSMUST00000209829]
|
| AlphaFold |
Q68EF6 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189236
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000190647
AA Change: S219P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: S219P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1fxkc_
|
18 |
132 |
2e-4 |
SMART |
|
low complexity region
|
285 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
309 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
481 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000209829
AA Change: S424P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
G |
A |
1: 36,740,828 (GRCm39) |
R199C |
probably damaging |
Het |
| Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
| Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
| Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
| Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
| B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
| Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
| Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,924 (GRCm39) |
C525R |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
| Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
| Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
| Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
| Itgb8 |
C |
T |
12: 119,153,616 (GRCm39) |
V300M |
probably damaging |
Het |
| Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
| Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
| Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
| Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
| Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
| Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
| Plxdc2 |
A |
G |
2: 16,734,152 (GRCm39) |
I417M |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
| Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
| Prox2 |
C |
T |
12: 85,142,034 (GRCm39) |
W56* |
probably null |
Het |
| Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
| Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
| Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
| Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
probably damaging |
Het |
|
| Other mutations in Begain |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01951:Begain
|
APN |
12 |
108,999,571 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02027:Begain
|
APN |
12 |
109,000,235 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02186:Begain
|
APN |
12 |
108,999,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02219:Begain
|
APN |
12 |
108,999,656 (GRCm39) |
missense |
probably benign |
0.01 |
|
FR4342:Begain
|
UTSW |
12 |
108,999,344 (GRCm39) |
unclassified |
probably benign |
|
|
R0335:Begain
|
UTSW |
12 |
109,004,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1815:Begain
|
UTSW |
12 |
109,000,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1824:Begain
|
UTSW |
12 |
108,999,025 (GRCm39) |
splice site |
probably null |
|
|
R1837:Begain
|
UTSW |
12 |
109,001,249 (GRCm39) |
splice site |
probably benign |
|
|
R1839:Begain
|
UTSW |
12 |
109,001,249 (GRCm39) |
splice site |
probably benign |
|
|
R2110:Begain
|
UTSW |
12 |
108,999,843 (GRCm39) |
nonsense |
probably null |
|
|
R2849:Begain
|
UTSW |
12 |
108,999,044 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4480:Begain
|
UTSW |
12 |
109,000,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Begain
|
UTSW |
12 |
108,999,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6425:Begain
|
UTSW |
12 |
108,999,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Begain
|
UTSW |
12 |
109,004,794 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7354:Begain
|
UTSW |
12 |
108,999,215 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7369:Begain
|
UTSW |
12 |
108,999,853 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7683:Begain
|
UTSW |
12 |
108,999,413 (GRCm39) |
missense |
unknown |
|
|
R7755:Begain
|
UTSW |
12 |
109,018,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7807:Begain
|
UTSW |
12 |
109,004,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9207:Begain
|
UTSW |
12 |
108,999,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Begain
|
UTSW |
12 |
108,999,119 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9368:Begain
|
UTSW |
12 |
108,999,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF008:Begain
|
UTSW |
12 |
108,999,363 (GRCm39) |
nonsense |
probably null |
|
|
RF012:Begain
|
UTSW |
12 |
108,999,353 (GRCm39) |
unclassified |
probably benign |
|
|
RF014:Begain
|
UTSW |
12 |
108,999,348 (GRCm39) |
unclassified |
probably benign |
|
|
RF020:Begain
|
UTSW |
12 |
108,999,350 (GRCm39) |
unclassified |
probably benign |
|
|
RF024:Begain
|
UTSW |
12 |
108,999,363 (GRCm39) |
nonsense |
probably null |
|
|
RF025:Begain
|
UTSW |
12 |
108,999,350 (GRCm39) |
unclassified |
probably benign |
|
|
RF049:Begain
|
UTSW |
12 |
108,999,340 (GRCm39) |
unclassified |
probably benign |
|
|
RF056:Begain
|
UTSW |
12 |
108,999,362 (GRCm39) |
unclassified |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation