Incidental Mutation 'IGL00954:BC049715'
ID |
27671 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
BC049715
|
Ensembl Gene |
ENSMUSG00000047515 |
Gene Name |
cDNA sequence BC049715 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00954
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
136804624-136817660 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 136817093 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 111
(E111V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145015
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052702]
[ENSMUST00000068293]
[ENSMUST00000111894]
[ENSMUST00000163640]
[ENSMUST00000203468]
[ENSMUST00000203499]
[ENSMUST00000204086]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052702
AA Change: E111V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000049512 Gene: ENSMUSG00000047515 AA Change: E111V
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
8 |
235 |
1.3e-64 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000068293
|
SMART Domains |
Protein: ENSMUSP00000066235 Gene: ENSMUSG00000043298
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
14 |
221 |
1.9e-83 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000111894
|
SMART Domains |
Protein: ENSMUSP00000107525 Gene: ENSMUSG00000043298
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
14 |
221 |
2.4e-65 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000163640
AA Change: E111V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000133266 Gene: ENSMUSG00000047515 AA Change: E111V
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
8 |
235 |
1.6e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000203468
|
SMART Domains |
Protein: ENSMUSP00000144838 Gene: ENSMUSG00000043298
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
14 |
221 |
2.4e-65 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203499
AA Change: E111V
PolyPhen 2
Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000145015 Gene: ENSMUSG00000047515 AA Change: E111V
Domain | Start | End | E-Value | Type |
Pfam:DUF4533
|
8 |
235 |
1.6e-97 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204086
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
Macroh2a1 |
A |
G |
13: 56,222,132 (GRCm39) |
S340P |
possibly damaging |
Het |
Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
Other mutations in BC049715 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01834:BC049715
|
APN |
6 |
136,817,489 (GRCm39) |
missense |
probably benign |
0.26 |
R0330:BC049715
|
UTSW |
6 |
136,817,035 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0375:BC049715
|
UTSW |
6 |
136,816,994 (GRCm39) |
missense |
probably benign |
0.12 |
R0419:BC049715
|
UTSW |
6 |
136,817,143 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1437:BC049715
|
UTSW |
6 |
136,817,090 (GRCm39) |
missense |
probably damaging |
0.99 |
R1734:BC049715
|
UTSW |
6 |
136,817,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:BC049715
|
UTSW |
6 |
136,817,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1738:BC049715
|
UTSW |
6 |
136,817,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R2264:BC049715
|
UTSW |
6 |
136,817,434 (GRCm39) |
nonsense |
probably null |
|
R3004:BC049715
|
UTSW |
6 |
136,816,790 (GRCm39) |
missense |
possibly damaging |
0.80 |
R3937:BC049715
|
UTSW |
6 |
136,817,453 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3938:BC049715
|
UTSW |
6 |
136,817,453 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4459:BC049715
|
UTSW |
6 |
136,817,050 (GRCm39) |
missense |
probably damaging |
0.99 |
R4806:BC049715
|
UTSW |
6 |
136,816,927 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5086:BC049715
|
UTSW |
6 |
136,817,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R6280:BC049715
|
UTSW |
6 |
136,817,229 (GRCm39) |
nonsense |
probably null |
|
R7383:BC049715
|
UTSW |
6 |
136,817,453 (GRCm39) |
missense |
probably damaging |
0.98 |
R7554:BC049715
|
UTSW |
6 |
136,817,295 (GRCm39) |
missense |
probably damaging |
0.99 |
R8055:BC049715
|
UTSW |
6 |
136,816,913 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8768:BC049715
|
UTSW |
6 |
136,816,979 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
Posted On |
2013-04-17 |