Incidental Mutation 'IGL00433:BC024139'
ID |
5830 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
BC024139
|
Ensembl Gene |
ENSMUSG00000044361 |
Gene Name |
cDNA sequence BC024139 |
Synonyms |
6230424I18Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.050)
|
Stock # |
IGL00433
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76003717-76010756 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76009300 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 238
(V238A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087082
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054022]
[ENSMUST00000089654]
[ENSMUST00000146157]
[ENSMUST00000226781]
|
AlphaFold |
Q8BVJ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000054022
AA Change: V238A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000053305 Gene: ENSMUSG00000044361 AA Change: V238A
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
Pfam:GAS2
|
672 |
701 |
3.9e-12 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000089654
AA Change: V238A
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000087082 Gene: ENSMUSG00000044361 AA Change: V238A
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
Pfam:GAS2
|
671 |
703 |
3.1e-12 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126892
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146157
AA Change: V238A
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000117783 Gene: ENSMUSG00000044361 AA Change: V238A
Domain | Start | End | E-Value | Type |
low complexity region
|
61 |
79 |
N/A |
INTRINSIC |
SPEC
|
91 |
177 |
8.82e-1 |
SMART |
SPEC
|
184 |
283 |
2.74e-2 |
SMART |
coiled coil region
|
314 |
337 |
N/A |
INTRINSIC |
low complexity region
|
469 |
485 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226663
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226781
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts20 |
G |
A |
15: 94,292,522 (GRCm39) |
A196V |
probably benign |
Het |
Bfar |
G |
A |
16: 13,516,827 (GRCm39) |
D350N |
probably benign |
Het |
C4b |
A |
T |
17: 34,961,015 (GRCm39) |
F217Y |
possibly damaging |
Het |
Camk1g |
T |
C |
1: 193,029,657 (GRCm39) |
|
probably benign |
Het |
Camkmt |
A |
G |
17: 85,404,094 (GRCm39) |
|
probably benign |
Het |
Cass4 |
T |
C |
2: 172,258,170 (GRCm39) |
L56P |
probably damaging |
Het |
Ccs |
A |
G |
19: 4,875,636 (GRCm39) |
I243T |
possibly damaging |
Het |
Cds2 |
T |
C |
2: 132,139,213 (GRCm39) |
V152A |
probably damaging |
Het |
Chd1l |
T |
C |
3: 97,497,921 (GRCm39) |
N307D |
probably damaging |
Het |
Cmtm2b |
T |
C |
8: 105,057,078 (GRCm39) |
I146T |
possibly damaging |
Het |
Cntnap3 |
T |
C |
13: 64,920,545 (GRCm39) |
Y608C |
probably damaging |
Het |
Cog5 |
A |
G |
12: 31,735,703 (GRCm39) |
R157G |
probably damaging |
Het |
Csmd1 |
A |
C |
8: 16,281,387 (GRCm39) |
F713V |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,480,440 (GRCm39) |
N175D |
probably benign |
Het |
Exoc4 |
A |
G |
6: 33,273,723 (GRCm39) |
D176G |
probably damaging |
Het |
Fbxo10 |
T |
C |
4: 45,058,684 (GRCm39) |
D351G |
probably damaging |
Het |
Gm12185 |
A |
T |
11: 48,798,049 (GRCm39) |
S815T |
probably benign |
Het |
Gpld1 |
A |
G |
13: 25,170,905 (GRCm39) |
|
probably benign |
Het |
Hspa2 |
T |
C |
12: 76,453,123 (GRCm39) |
C606R |
possibly damaging |
Het |
Leo1 |
C |
T |
9: 75,357,762 (GRCm39) |
|
probably benign |
Het |
Mta3 |
C |
T |
17: 84,015,861 (GRCm39) |
P21L |
probably damaging |
Het |
Pkn1 |
T |
C |
8: 84,407,635 (GRCm39) |
E471G |
probably damaging |
Het |
Postn |
C |
T |
3: 54,281,149 (GRCm39) |
R425C |
probably damaging |
Het |
Reln |
A |
G |
5: 22,250,007 (GRCm39) |
L676P |
probably damaging |
Het |
Sin3a |
G |
A |
9: 57,005,185 (GRCm39) |
V362M |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,134,363 (GRCm39) |
|
probably null |
Het |
Smc6 |
A |
T |
12: 11,349,264 (GRCm39) |
D749V |
possibly damaging |
Het |
Smg5 |
C |
T |
3: 88,258,735 (GRCm39) |
Q569* |
probably null |
Het |
Sspo |
G |
A |
6: 48,466,970 (GRCm39) |
C4130Y |
probably damaging |
Het |
Tlcd3a |
T |
C |
11: 76,098,817 (GRCm39) |
F164L |
probably damaging |
Het |
Tnn |
A |
T |
1: 159,925,776 (GRCm39) |
|
probably benign |
Het |
Tomt |
C |
T |
7: 101,551,393 (GRCm39) |
R29H |
probably benign |
Het |
Uggt2 |
A |
T |
14: 119,250,899 (GRCm39) |
D1199E |
probably benign |
Het |
Usp33 |
A |
G |
3: 152,079,046 (GRCm39) |
K433E |
probably benign |
Het |
Vmn2r89 |
A |
G |
14: 51,692,422 (GRCm39) |
Y75C |
probably damaging |
Het |
Wnt7a |
C |
T |
6: 91,342,973 (GRCm39) |
G303D |
probably damaging |
Het |
|
Other mutations in BC024139 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01684:BC024139
|
APN |
15 |
76,008,885 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01780:BC024139
|
APN |
15 |
76,005,343 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03084:BC024139
|
APN |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03242:BC024139
|
APN |
15 |
76,004,520 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03386:BC024139
|
APN |
15 |
76,005,945 (GRCm39) |
missense |
probably benign |
0.18 |
R0018:BC024139
|
UTSW |
15 |
76,005,087 (GRCm39) |
nonsense |
probably null |
|
R0018:BC024139
|
UTSW |
15 |
76,005,087 (GRCm39) |
nonsense |
probably null |
|
R0153:BC024139
|
UTSW |
15 |
76,005,947 (GRCm39) |
missense |
probably damaging |
0.96 |
R0789:BC024139
|
UTSW |
15 |
76,005,283 (GRCm39) |
missense |
possibly damaging |
0.51 |
R1158:BC024139
|
UTSW |
15 |
76,004,542 (GRCm39) |
unclassified |
probably benign |
|
R1515:BC024139
|
UTSW |
15 |
76,008,526 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1840:BC024139
|
UTSW |
15 |
76,004,842 (GRCm39) |
missense |
probably benign |
|
R1845:BC024139
|
UTSW |
15 |
76,009,461 (GRCm39) |
nonsense |
probably null |
|
R2159:BC024139
|
UTSW |
15 |
76,005,688 (GRCm39) |
missense |
probably damaging |
0.96 |
R2264:BC024139
|
UTSW |
15 |
76,010,117 (GRCm39) |
missense |
probably damaging |
1.00 |
R2680:BC024139
|
UTSW |
15 |
76,005,939 (GRCm39) |
missense |
probably damaging |
0.98 |
R2697:BC024139
|
UTSW |
15 |
76,004,393 (GRCm39) |
unclassified |
probably benign |
|
R4113:BC024139
|
UTSW |
15 |
76,005,827 (GRCm39) |
missense |
probably benign |
0.35 |
R4630:BC024139
|
UTSW |
15 |
76,009,294 (GRCm39) |
missense |
probably benign |
0.23 |
R4825:BC024139
|
UTSW |
15 |
76,004,517 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4865:BC024139
|
UTSW |
15 |
76,010,266 (GRCm39) |
missense |
possibly damaging |
0.56 |
R5208:BC024139
|
UTSW |
15 |
76,008,865 (GRCm39) |
missense |
probably benign |
0.03 |
R5369:BC024139
|
UTSW |
15 |
76,004,422 (GRCm39) |
missense |
probably benign |
0.02 |
R5371:BC024139
|
UTSW |
15 |
76,004,886 (GRCm39) |
makesense |
probably null |
|
R5897:BC024139
|
UTSW |
15 |
76,010,339 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6110:BC024139
|
UTSW |
15 |
76,003,996 (GRCm39) |
missense |
probably benign |
|
R6374:BC024139
|
UTSW |
15 |
76,004,657 (GRCm39) |
critical splice donor site |
probably null |
|
R6823:BC024139
|
UTSW |
15 |
76,003,946 (GRCm39) |
makesense |
probably null |
|
R6915:BC024139
|
UTSW |
15 |
76,004,221 (GRCm39) |
missense |
probably benign |
|
R7075:BC024139
|
UTSW |
15 |
76,008,599 (GRCm39) |
missense |
probably benign |
0.06 |
R7669:BC024139
|
UTSW |
15 |
76,004,768 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8340:BC024139
|
UTSW |
15 |
76,005,670 (GRCm39) |
missense |
probably benign |
0.03 |
R8355:BC024139
|
UTSW |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
R8455:BC024139
|
UTSW |
15 |
76,004,007 (GRCm39) |
missense |
probably benign |
0.00 |
R8481:BC024139
|
UTSW |
15 |
76,004,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R8507:BC024139
|
UTSW |
15 |
76,004,333 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8804:BC024139
|
UTSW |
15 |
76,008,284 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8876:BC024139
|
UTSW |
15 |
76,010,320 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9213:BC024139
|
UTSW |
15 |
76,009,422 (GRCm39) |
missense |
probably benign |
0.00 |
R9542:BC024139
|
UTSW |
15 |
76,009,715 (GRCm39) |
missense |
probably damaging |
0.99 |
R9555:BC024139
|
UTSW |
15 |
76,005,359 (GRCm39) |
missense |
possibly damaging |
0.68 |
X0066:BC024139
|
UTSW |
15 |
76,008,202 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2012-04-20 |