Incidental Mutation 'IGL01736:Bivm'
ID |
105696 |
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: 0.092)
|
Stock # |
IGL01736
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
44158117-44183930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44180973 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 385
(N385I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035991]
[ENSMUST00000114709]
|
AlphaFold |
Q8CBX9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035991
AA Change: N385I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041964 Gene: ENSMUSG00000041684 AA Change: N385I
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 damaging
Transcript: ENSMUST00000114709
AA Change: N385I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110357 Gene: ENSMUSG00000041684 AA Change: N385I
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,326,503 (GRCm39) |
T290A |
possibly damaging |
Het |
Apip |
G |
A |
2: 102,917,486 (GRCm39) |
V62M |
probably damaging |
Het |
Appbp2 |
T |
C |
11: 85,105,143 (GRCm39) |
K141R |
possibly damaging |
Het |
Arhgef18 |
T |
A |
8: 3,501,624 (GRCm39) |
|
probably benign |
Het |
B3galt2 |
A |
G |
1: 143,522,583 (GRCm39) |
T240A |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,417,649 (GRCm39) |
|
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,789 (GRCm39) |
D352G |
possibly damaging |
Het |
Ceacam10 |
A |
G |
7: 24,480,535 (GRCm39) |
Y102C |
probably damaging |
Het |
Diaph3 |
T |
C |
14: 87,156,282 (GRCm39) |
D677G |
probably benign |
Het |
Dis3l |
T |
C |
9: 64,226,536 (GRCm39) |
|
probably null |
Het |
Dnah6 |
C |
T |
6: 73,165,360 (GRCm39) |
V582M |
probably benign |
Het |
Fndc3b |
A |
G |
3: 27,521,552 (GRCm39) |
L541P |
probably damaging |
Het |
Folh1 |
T |
C |
7: 86,391,444 (GRCm39) |
T384A |
possibly damaging |
Het |
Gdpd3 |
T |
C |
7: 126,365,695 (GRCm39) |
L18P |
probably damaging |
Het |
Grxcr2 |
T |
A |
18: 42,132,047 (GRCm39) |
K7N |
probably damaging |
Het |
Gulo |
A |
G |
14: 66,234,325 (GRCm39) |
F246L |
probably benign |
Het |
Inpp4b |
A |
T |
8: 82,723,968 (GRCm39) |
D500V |
probably benign |
Het |
Ints4 |
C |
T |
7: 97,175,849 (GRCm39) |
L647F |
probably benign |
Het |
Kif17 |
T |
A |
4: 138,013,876 (GRCm39) |
L264Q |
possibly damaging |
Het |
Kif21a |
T |
C |
15: 90,843,948 (GRCm39) |
N1104S |
possibly damaging |
Het |
Ly6e |
T |
G |
15: 74,830,546 (GRCm39) |
L132R |
probably benign |
Het |
Mis18bp1 |
T |
A |
12: 65,185,452 (GRCm39) |
H905L |
probably damaging |
Het |
Nr2f2 |
A |
G |
7: 70,004,446 (GRCm39) |
S269P |
probably damaging |
Het |
Or2b2b |
C |
A |
13: 21,858,787 (GRCm39) |
C109F |
probably benign |
Het |
Or2o1 |
G |
A |
11: 49,051,354 (GRCm39) |
C171Y |
probably damaging |
Het |
Or5d46 |
T |
A |
2: 88,170,771 (GRCm39) |
N287K |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,166,910 (GRCm39) |
I757V |
probably damaging |
Het |
Psg23 |
A |
T |
7: 18,346,122 (GRCm39) |
I191N |
possibly damaging |
Het |
Slc12a4 |
A |
T |
8: 106,672,475 (GRCm39) |
|
probably null |
Het |
Snph |
A |
T |
2: 151,436,093 (GRCm39) |
Y209* |
probably null |
Het |
Tnfaip3 |
T |
C |
10: 18,882,649 (GRCm39) |
H256R |
probably damaging |
Het |
Tnip3 |
T |
A |
6: 65,573,107 (GRCm39) |
|
probably benign |
Het |
Ttc3 |
T |
A |
16: 94,243,386 (GRCm39) |
F1130Y |
probably damaging |
Het |
Twnk |
T |
G |
19: 44,998,627 (GRCm39) |
V515G |
probably damaging |
Het |
Usp24 |
T |
A |
4: 106,280,658 (GRCm39) |
I2324K |
probably benign |
Het |
Vwa7 |
T |
C |
17: 35,238,827 (GRCm39) |
F305S |
probably damaging |
Het |
Ythdc2 |
A |
T |
18: 44,983,735 (GRCm39) |
Q567L |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,818,523 (GRCm39) |
I649K |
probably damaging |
Het |
Zbtb49 |
T |
C |
5: 38,358,204 (GRCm39) |
Y683C |
probably damaging |
Het |
Zfhx4 |
A |
T |
3: 5,309,152 (GRCm39) |
M793L |
possibly damaging |
Het |
Zmym6 |
T |
G |
4: 127,002,437 (GRCm39) |
I556R |
probably damaging |
Het |
Zswim8 |
C |
T |
14: 20,764,780 (GRCm39) |
P717S |
probably benign |
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 |
IGL02332:Bivm
|
APN |
1 |
44,167,880 (GRCm39) |
unclassified |
probably benign |
|
IGL02704:Bivm
|
APN |
1 |
44,165,606 (GRCm39) |
missense |
probably benign |
|
IGL02859:Bivm
|
APN |
1 |
44,176,159 (GRCm39) |
nonsense |
probably null |
|
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 |
2014-01-21 |