Incidental Mutation 'IGL01951:Begain'
| ID |
181058 |
| 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 # |
IGL01951
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108998113-109034143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 108999571 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 605
(Y605F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148247
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000190647]
[ENSMUST00000209829]
|
| AlphaFold |
Q68EF6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073156
AA Change: Y400F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: Y400F
| 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 |
noncoding transcript
Transcript: ENSMUST00000185745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000187230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189236
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190647
AA Change: Y400F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: Y400F
| 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 benign
Transcript: ENSMUST00000209829
AA Change: Y605F
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,092,865 (GRCm39) |
I152T |
probably damaging |
Het |
| A2m |
C |
T |
6: 121,644,149 (GRCm39) |
T949I |
possibly damaging |
Het |
| Cavin2 |
A |
G |
1: 51,328,570 (GRCm39) |
E9G |
possibly damaging |
Het |
| Cdh16 |
A |
G |
8: 105,344,323 (GRCm39) |
V72A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,844,638 (GRCm39) |
L268P |
probably damaging |
Het |
| Eps8 |
T |
A |
6: 137,514,669 (GRCm39) |
Y28F |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fli1 |
A |
T |
9: 32,372,660 (GRCm39) |
F126Y |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21957 |
A |
T |
7: 124,819,004 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,841,280 (GRCm39) |
R618* |
probably null |
Het |
| Homez |
T |
C |
14: 55,095,633 (GRCm39) |
E25G |
probably damaging |
Het |
| Ifngr1 |
C |
A |
10: 19,485,202 (GRCm39) |
N400K |
possibly damaging |
Het |
| Lin7a |
G |
A |
10: 107,247,886 (GRCm39) |
V186I |
possibly damaging |
Het |
| Lpcat2 |
G |
T |
8: 93,644,675 (GRCm39) |
S448I |
probably damaging |
Het |
| Lrp10 |
C |
A |
14: 54,706,119 (GRCm39) |
Y436* |
probably null |
Het |
| Myef2l |
G |
A |
3: 10,154,118 (GRCm39) |
V296M |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,816,991 (GRCm39) |
H707R |
possibly damaging |
Het |
| Neurl4 |
A |
G |
11: 69,800,449 (GRCm39) |
N1147D |
probably damaging |
Het |
| Or4b1b |
G |
T |
2: 90,112,351 (GRCm39) |
D189E |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,438,853 (GRCm39) |
D299G |
probably null |
Het |
| Pak6 |
T |
C |
2: 118,523,741 (GRCm39) |
S299P |
probably benign |
Het |
| Panx2 |
A |
G |
15: 88,952,970 (GRCm39) |
D487G |
probably damaging |
Het |
| Sbspon |
T |
C |
1: 15,929,158 (GRCm39) |
N211S |
probably benign |
Het |
| Sgsm1 |
T |
A |
5: 113,434,633 (GRCm39) |
|
probably benign |
Het |
| Slc38a4 |
T |
C |
15: 96,917,644 (GRCm39) |
Y27C |
probably benign |
Het |
| Sorbs1 |
A |
G |
19: 40,306,460 (GRCm39) |
|
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,104,308 (GRCm39) |
Y35N |
possibly damaging |
Het |
| Stx2 |
A |
T |
5: 129,069,329 (GRCm39) |
F127L |
probably damaging |
Het |
| Synm |
A |
T |
7: 67,388,885 (GRCm39) |
I325N |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,233,690 (GRCm39) |
|
probably benign |
Het |
| Tbc1d23 |
A |
G |
16: 57,007,048 (GRCm39) |
|
probably benign |
Het |
| Tmem50a |
T |
C |
4: 134,625,739 (GRCm39) |
|
probably benign |
Het |
| Tpx2 |
T |
G |
2: 152,726,096 (GRCm39) |
L354V |
probably benign |
Het |
| Trafd1 |
G |
A |
5: 121,512,094 (GRCm39) |
R399C |
possibly damaging |
Het |
| Trem3 |
C |
T |
17: 48,556,903 (GRCm39) |
R125W |
probably damaging |
Het |
| Ubp1 |
T |
A |
9: 113,780,686 (GRCm39) |
Y92* |
probably null |
Het |
| Wnk1 |
T |
A |
6: 119,940,446 (GRCm39) |
T62S |
probably damaging |
Het |
| Zbtb6 |
T |
C |
2: 37,319,343 (GRCm39) |
E195G |
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,491,829 (GRCm39) |
D306G |
probably damaging |
Het |
|
| Other mutations in Begain |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02555:Begain
|
APN |
12 |
109,000,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2014-05-07 |
Incidental Mutation