Incidental Mutation 'R6665:Bin2'
ID |
526950 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bin2
|
Ensembl Gene |
ENSMUSG00000098112 |
Gene Name |
bridging integrator 2 |
Synonyms |
|
MMRRC Submission |
044785-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6665 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
100538963-100567384 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100554676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 49
(E49G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182068]
[ENSMUST00000182574]
[ENSMUST00000182775]
[ENSMUST00000182814]
[ENSMUST00000183211]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000182068
|
SMART Domains |
Protein: ENSMUSP00000138316 Gene: ENSMUSG00000098112
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
Pfam:BAR
|
17 |
98 |
5.8e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182574
AA Change: E76G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138102 Gene: ENSMUSG00000098112 AA Change: E76G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
Pfam:BAR
|
17 |
150 |
1.2e-25 |
PFAM |
low complexity region
|
162 |
210 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182775
AA Change: E76G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138673 Gene: ENSMUSG00000098112 AA Change: E76G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
BAR
|
16 |
205 |
2.92e-51 |
SMART |
low complexity region
|
220 |
270 |
N/A |
INTRINSIC |
low complexity region
|
292 |
321 |
N/A |
INTRINSIC |
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
low complexity region
|
393 |
409 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000182814
AA Change: E49G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138158 Gene: ENSMUSG00000098112 AA Change: E49G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
BAR
|
16 |
210 |
3.28e-54 |
SMART |
low complexity region
|
225 |
275 |
N/A |
INTRINSIC |
low complexity region
|
297 |
326 |
N/A |
INTRINSIC |
low complexity region
|
347 |
358 |
N/A |
INTRINSIC |
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183211
AA Change: E76G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138523 Gene: ENSMUSG00000098112 AA Change: E76G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
11 |
N/A |
INTRINSIC |
BAR
|
16 |
237 |
2.32e-77 |
SMART |
low complexity region
|
252 |
302 |
N/A |
INTRINSIC |
low complexity region
|
324 |
353 |
N/A |
INTRINSIC |
low complexity region
|
374 |
385 |
N/A |
INTRINSIC |
low complexity region
|
425 |
441 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.0%
|
Validation Efficiency |
100% (34/34) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts15 |
A |
G |
9: 30,815,775 (GRCm39) |
|
probably null |
Het |
Adamts16 |
T |
G |
13: 70,927,689 (GRCm39) |
K517Q |
probably damaging |
Het |
Atp9b |
A |
C |
18: 80,960,950 (GRCm39) |
V87G |
probably benign |
Het |
Avil |
A |
G |
10: 126,856,394 (GRCm39) |
K808E |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,508,092 (GRCm39) |
Y652C |
probably damaging |
Het |
Cd6 |
T |
C |
19: 10,768,367 (GRCm39) |
N541D |
probably benign |
Het |
Col28a1 |
A |
G |
6: 8,062,277 (GRCm39) |
V671A |
probably benign |
Het |
Dock6 |
C |
T |
9: 21,751,208 (GRCm39) |
C355Y |
probably damaging |
Het |
Dsc2 |
A |
G |
18: 20,183,205 (GRCm39) |
F71S |
probably damaging |
Het |
Dusp8 |
G |
A |
7: 141,643,842 (GRCm39) |
P24S |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,107,098 (GRCm39) |
Y1151C |
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,823,078 (GRCm39) |
L659Q |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,562,077 (GRCm39) |
Y810C |
probably damaging |
Het |
Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
Hexb |
T |
C |
13: 97,315,893 (GRCm39) |
N380D |
probably benign |
Het |
Ice1 |
T |
C |
13: 70,751,592 (GRCm39) |
E1498G |
possibly damaging |
Het |
Lrif1 |
T |
A |
3: 106,642,659 (GRCm39) |
|
probably null |
Het |
Myo9a |
G |
T |
9: 59,779,155 (GRCm39) |
G1637V |
probably benign |
Het |
Myod1 |
A |
T |
7: 46,026,281 (GRCm39) |
H62L |
probably damaging |
Het |
Myoz3 |
A |
C |
18: 60,709,495 (GRCm39) |
L222R |
probably damaging |
Het |
Naca |
T |
A |
10: 127,884,227 (GRCm39) |
N2180K |
probably damaging |
Het |
Or6c76 |
T |
C |
10: 129,612,116 (GRCm39) |
F111S |
probably damaging |
Het |
Pik3cb |
A |
G |
9: 98,955,702 (GRCm39) |
V405A |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,603,914 (GRCm39) |
|
probably null |
Het |
Rab32 |
T |
C |
10: 10,433,846 (GRCm39) |
|
probably benign |
Het |
Serpinb10 |
A |
C |
1: 107,474,597 (GRCm39) |
N253T |
possibly damaging |
Het |
Slc13a5 |
C |
T |
11: 72,151,186 (GRCm39) |
V131I |
probably damaging |
Het |
Slc25a40 |
A |
G |
5: 8,502,788 (GRCm39) |
N290S |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,703,020 (GRCm39) |
V131A |
probably benign |
Het |
Spef2 |
A |
T |
15: 9,600,604 (GRCm39) |
|
probably null |
Het |
Stxbp2 |
A |
G |
8: 3,691,998 (GRCm39) |
M547V |
probably benign |
Het |
Tmem247 |
A |
T |
17: 87,225,998 (GRCm39) |
Q146L |
probably benign |
Het |
Vmn2r67 |
T |
C |
7: 84,785,900 (GRCm39) |
I702V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,636 (GRCm39) |
S436P |
probably benign |
Het |
|
Other mutations in Bin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R4852:Bin2
|
UTSW |
15 |
100,543,169 (GRCm39) |
missense |
probably damaging |
0.96 |
R5150:Bin2
|
UTSW |
15 |
100,543,244 (GRCm39) |
missense |
probably damaging |
0.96 |
R5236:Bin2
|
UTSW |
15 |
100,560,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R5418:Bin2
|
UTSW |
15 |
100,547,027 (GRCm39) |
missense |
probably damaging |
1.00 |
R5502:Bin2
|
UTSW |
15 |
100,543,286 (GRCm39) |
missense |
probably benign |
0.02 |
R5993:Bin2
|
UTSW |
15 |
100,542,901 (GRCm39) |
frame shift |
probably null |
|
R6082:Bin2
|
UTSW |
15 |
100,543,029 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6550:Bin2
|
UTSW |
15 |
100,543,358 (GRCm39) |
missense |
probably benign |
0.41 |
R6650:Bin2
|
UTSW |
15 |
100,567,301 (GRCm39) |
missense |
probably damaging |
1.00 |
R7618:Bin2
|
UTSW |
15 |
100,542,894 (GRCm39) |
missense |
probably damaging |
0.99 |
R9169:Bin2
|
UTSW |
15 |
100,554,631 (GRCm39) |
missense |
possibly damaging |
0.79 |
R9573:Bin2
|
UTSW |
15 |
100,560,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R9632:Bin2
|
UTSW |
15 |
100,549,915 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAATTGCTTTCTATCGTTAGAGAC -3'
(R):5'- ACTGTTCAGCTGCCCTTGAC -3'
Sequencing Primer
(F):5'- CTATCGTTAGAGACTGAGGCTC -3'
(R):5'- TTGACCCCTGAAGCTCCATGG -3'
|
Posted On |
2018-07-23 |