Incidental Mutation 'IGL02859:Bivm'
| ID |
362088 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bivm
|
| Ensembl Gene |
ENSMUSG00000041684 |
| Gene Name |
basic, immunoglobulin-like variable motif containing |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL02859
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
44158117-44183930 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 44176159 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 305
(S305*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035991]
[ENSMUST00000114709]
|
| AlphaFold |
Q8CBX9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000035991
AA Change: S305*
|
| SMART Domains |
Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
AA Change: S305*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
Blast:XPGN
|
456 |
501 |
3e-11 |
BLAST |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114709
AA Change: S305*
|
| SMART Domains |
Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
AA Change: S305*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
174 |
N/A |
INTRINSIC |
|
Blast:XPGN
|
456 |
501 |
3e-11 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,818 (GRCm39) |
Y637F |
possibly damaging |
Het |
| Abcc4 |
A |
G |
14: 118,753,912 (GRCm39) |
I1025T |
probably damaging |
Het |
| Adam22 |
C |
A |
5: 8,217,375 (GRCm39) |
R140L |
probably damaging |
Het |
| Ahdc1 |
C |
A |
4: 132,790,003 (GRCm39) |
L415I |
possibly damaging |
Het |
| Ahdc1 |
T |
A |
4: 132,790,004 (GRCm39) |
L415H |
probably damaging |
Het |
| Clca4b |
C |
T |
3: 144,617,800 (GRCm39) |
D768N |
probably benign |
Het |
| Cobl |
T |
A |
11: 12,319,602 (GRCm39) |
N31Y |
probably damaging |
Het |
| Col4a5 |
G |
A |
X: 140,392,846 (GRCm39) |
C484Y |
unknown |
Het |
| Ctnnd1 |
T |
C |
2: 84,450,253 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,383,771 (GRCm39) |
T2998A |
probably benign |
Het |
| Dnah9 |
T |
A |
11: 65,772,445 (GRCm39) |
|
probably benign |
Het |
| F2 |
T |
C |
2: 91,456,087 (GRCm39) |
D558G |
probably damaging |
Het |
| Gle1 |
T |
A |
2: 29,839,240 (GRCm39) |
W511R |
probably damaging |
Het |
| Gm11564 |
C |
T |
11: 99,705,953 (GRCm39) |
S159N |
unknown |
Het |
| Htr6 |
A |
G |
4: 138,801,745 (GRCm39) |
C110R |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,197,934 (GRCm39) |
S391C |
probably damaging |
Het |
| Itgae |
T |
C |
11: 73,005,693 (GRCm39) |
F286L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,780,730 (GRCm39) |
H534L |
probably damaging |
Het |
| Map1b |
T |
C |
13: 99,569,544 (GRCm39) |
Y1059C |
unknown |
Het |
| Mul1 |
A |
G |
4: 138,165,660 (GRCm39) |
T106A |
probably damaging |
Het |
| Nf2 |
T |
A |
11: 4,741,209 (GRCm39) |
E249V |
probably damaging |
Het |
| Nlrp1a |
T |
C |
11: 70,996,912 (GRCm39) |
S965G |
possibly damaging |
Het |
| Nrn1 |
C |
A |
13: 36,914,080 (GRCm39) |
|
probably null |
Het |
| Optc |
T |
C |
1: 133,829,799 (GRCm39) |
T204A |
probably damaging |
Het |
| Or51f1d |
T |
C |
7: 102,701,345 (GRCm39) |
V280A |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,992 (GRCm39) |
N20S |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,589,912 (GRCm39) |
R787Q |
probably damaging |
Het |
| Pim1 |
G |
A |
17: 29,710,909 (GRCm39) |
E171K |
probably damaging |
Het |
| Pnpt1 |
T |
C |
11: 29,088,162 (GRCm39) |
V191A |
probably damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,871,671 (GRCm39) |
R796Q |
probably benign |
Het |
| Serpinb9e |
A |
G |
13: 33,435,633 (GRCm39) |
D22G |
possibly damaging |
Het |
| Sit1 |
C |
T |
4: 43,482,831 (GRCm39) |
M109I |
probably benign |
Het |
| Slc17a8 |
A |
G |
10: 89,412,446 (GRCm39) |
V329A |
probably benign |
Het |
| Smg1 |
T |
A |
7: 117,748,156 (GRCm39) |
|
probably benign |
Het |
| Snx7 |
T |
A |
3: 117,623,320 (GRCm39) |
|
probably benign |
Het |
| Stat2 |
A |
T |
10: 128,112,480 (GRCm39) |
E40V |
probably damaging |
Het |
| Vegfa |
C |
T |
17: 46,335,421 (GRCm39) |
S291N |
probably benign |
Het |
| Vmn1r61 |
G |
T |
7: 5,614,288 (GRCm39) |
L9I |
probably benign |
Het |
| Wbp4 |
T |
C |
14: 79,708,129 (GRCm39) |
K163E |
probably damaging |
Het |
|
| Other mutations in Bivm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01090:Bivm
|
APN |
1 |
44,168,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01384:Bivm
|
APN |
1 |
44,165,907 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01552:Bivm
|
APN |
1 |
44,165,933 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01736:Bivm
|
APN |
1 |
44,180,973 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02332:Bivm
|
APN |
1 |
44,167,880 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02704:Bivm
|
APN |
1 |
44,165,606 (GRCm39) |
missense |
probably benign |
|
|
IGL02939:Bivm
|
APN |
1 |
44,182,120 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03265:Bivm
|
APN |
1 |
44,181,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0456:Bivm
|
UTSW |
1 |
44,165,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Bivm
|
UTSW |
1 |
44,165,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1173:Bivm
|
UTSW |
1 |
44,165,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1174:Bivm
|
UTSW |
1 |
44,165,942 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1177:Bivm
|
UTSW |
1 |
44,182,123 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1350:Bivm
|
UTSW |
1 |
44,165,863 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1611:Bivm
|
UTSW |
1 |
44,165,907 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2518:Bivm
|
UTSW |
1 |
44,168,775 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3735:Bivm
|
UTSW |
1 |
44,165,594 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4290:Bivm
|
UTSW |
1 |
44,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4292:Bivm
|
UTSW |
1 |
44,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4293:Bivm
|
UTSW |
1 |
44,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4294:Bivm
|
UTSW |
1 |
44,177,793 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4849:Bivm
|
UTSW |
1 |
44,182,033 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5204:Bivm
|
UTSW |
1 |
44,177,738 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5912:Bivm
|
UTSW |
1 |
44,165,573 (GRCm39) |
nonsense |
probably null |
|
|
R6045:Bivm
|
UTSW |
1 |
44,158,233 (GRCm39) |
start gained |
probably benign |
|
|
R6216:Bivm
|
UTSW |
1 |
44,166,028 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6836:Bivm
|
UTSW |
1 |
44,182,296 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7120:Bivm
|
UTSW |
1 |
44,165,606 (GRCm39) |
missense |
probably benign |
|
|
R7817:Bivm
|
UTSW |
1 |
44,165,561 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8893:Bivm
|
UTSW |
1 |
44,158,439 (GRCm39) |
intron |
probably benign |
|
|
R9110:Bivm
|
UTSW |
1 |
44,168,526 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9128:Bivm
|
UTSW |
1 |
44,167,949 (GRCm39) |
missense |
probably null |
1.00 |
|
R9511:Bivm
|
UTSW |
1 |
44,182,250 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2015-12-18 |
Incidental Mutation