Incidental Mutation 'R4480:Begain'
ID |
331441 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Begain
|
Ensembl Gene |
ENSMUSG00000040867 |
Gene Name |
brain-enriched guanylate kinase-associated |
Synonyms |
LOC380785 |
MMRRC Submission |
041737-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4480 (G1)
|
Quality Score |
189 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
108998113-109034143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 109000049 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 446
(Y446H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148247
(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: Y241H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000140393 Gene: ENSMUSG00000040867 AA Change: Y241H
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: Y446H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.1801 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc6 |
T |
C |
7: 45,654,663 (GRCm39) |
T553A |
possibly damaging |
Het |
Adgrb3 |
A |
T |
1: 25,150,829 (GRCm39) |
F1135I |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,476,348 (GRCm39) |
F1490L |
probably damaging |
Het |
Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,792,853 (GRCm39) |
Q703R |
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
Dip2b |
C |
T |
15: 100,084,182 (GRCm39) |
T935M |
probably damaging |
Het |
Eif2s2 |
T |
C |
2: 154,730,190 (GRCm39) |
T36A |
probably benign |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,048,470 (GRCm39) |
Y555C |
probably damaging |
Het |
Fpr2 |
C |
T |
17: 18,114,015 (GRCm39) |
T337I |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,337,986 (GRCm39) |
Q93L |
probably benign |
Het |
Gapdh |
A |
G |
6: 125,140,145 (GRCm39) |
V119A |
possibly damaging |
Het |
Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
Hkdc1 |
T |
C |
10: 62,227,151 (GRCm39) |
I769V |
probably benign |
Het |
Ifne |
T |
C |
4: 88,797,838 (GRCm39) |
*193W |
probably null |
Het |
Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
Nup107 |
T |
C |
10: 117,597,237 (GRCm39) |
I673V |
probably benign |
Het |
Nup188 |
T |
A |
2: 30,212,141 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or10g1 |
G |
A |
14: 52,647,765 (GRCm39) |
A188V |
probably damaging |
Het |
Or2t48 |
G |
T |
11: 58,420,627 (GRCm39) |
P62T |
probably damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,453,805 (GRCm39) |
S62T |
probably benign |
Het |
Plekha5 |
T |
C |
6: 140,472,205 (GRCm39) |
V44A |
probably damaging |
Het |
Psg18 |
C |
T |
7: 18,084,787 (GRCm39) |
S103N |
probably benign |
Het |
Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
Ptprs |
A |
G |
17: 56,733,404 (GRCm39) |
V804A |
possibly damaging |
Het |
Rab35 |
C |
A |
5: 115,775,823 (GRCm39) |
S34* |
probably null |
Het |
Slco6d1 |
T |
A |
1: 98,435,299 (GRCm39) |
Y671* |
probably null |
Het |
Sostdc1 |
A |
G |
12: 36,367,165 (GRCm39) |
I114V |
probably damaging |
Het |
Tecta |
A |
G |
9: 42,284,529 (GRCm39) |
F852S |
possibly damaging |
Het |
Tmem179 |
T |
C |
12: 112,469,737 (GRCm39) |
E21G |
probably benign |
Het |
Usp17la |
T |
A |
7: 104,509,897 (GRCm39) |
H167Q |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
Wdr17 |
A |
G |
8: 55,117,999 (GRCm39) |
|
probably null |
Het |
Wdr73 |
T |
C |
7: 80,542,969 (GRCm39) |
E213G |
probably benign |
Het |
Zfp985 |
A |
G |
4: 147,668,536 (GRCm39) |
D468G |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTGCGGTTGAAGAACTCGTC -3'
(R):5'- TGCACATGGAGAAGCATGGC -3'
Sequencing Primer
(F):5'- TTGAAGAACTCGTCGCGGC -3'
(R):5'- GTCATCGCCAAAGTGCT -3'
|
Posted On |
2015-07-21 |