Incidental Mutation 'IGL02027:Begain'
| ID |
184231 |
| 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 # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
108998113-109034143 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 109000235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamine
at position 384
(K384Q)
|
| 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: K179Q
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072899
Gene: ENSMUSG00000040867
AA Change: K179Q
| 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: K179Q
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000140393
Gene: ENSMUSG00000040867
AA Change: K179Q
| 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 |
possibly damaging
Transcript: ENSMUST00000209829
AA Change: K384Q
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
| C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,307 (GRCm39) |
S117G |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,171,630 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,251,910 (GRCm39) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
| Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,446,638 (GRCm39) |
E1151G |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
| Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
| Repin1 |
A |
G |
6: 48,573,407 (GRCm39) |
H56R |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,387,462 (GRCm39) |
|
probably benign |
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 |
|
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