Incidental Mutation 'IGL02704:Bivm'
ID |
304272 |
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 # |
IGL02704
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
44158117-44183930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 44165606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 19
(T19S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140572
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035991]
[ENSMUST00000114709]
[ENSMUST00000129068]
[ENSMUST00000155917]
|
AlphaFold |
Q8CBX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035991
AA Change: T19S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041964 Gene: ENSMUSG00000041684 AA Change: T19S
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 benign
Transcript: ENSMUST00000114709
AA Change: T19S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110357 Gene: ENSMUSG00000041684 AA Change: T19S
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 benign
Transcript: ENSMUST00000129068
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155917
AA Change: T19S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186280
|
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 |
Accs |
G |
T |
2: 93,673,271 (GRCm39) |
P162Q |
probably damaging |
Het |
Alb |
A |
G |
5: 90,616,368 (GRCm39) |
N291S |
possibly damaging |
Het |
Ankar |
T |
C |
1: 72,691,502 (GRCm39) |
D935G |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,070,080 (GRCm39) |
C935* |
probably null |
Het |
Ddah2 |
C |
A |
17: 35,279,983 (GRCm39) |
D158E |
possibly damaging |
Het |
Dnah7b |
C |
T |
1: 46,181,293 (GRCm39) |
T1060I |
probably benign |
Het |
Efhb |
T |
C |
17: 53,733,297 (GRCm39) |
T525A |
probably damaging |
Het |
Exoc3 |
A |
G |
13: 74,322,263 (GRCm39) |
M604T |
probably benign |
Het |
Frmpd1 |
T |
G |
4: 45,285,082 (GRCm39) |
I1301S |
possibly damaging |
Het |
Gm5269 |
T |
C |
1: 45,929,235 (GRCm39) |
T2A |
probably benign |
Het |
Hif3a |
T |
A |
7: 16,784,686 (GRCm39) |
|
probably benign |
Het |
Hpgds |
A |
T |
6: 65,100,621 (GRCm39) |
L119* |
probably null |
Het |
Iars1 |
A |
G |
13: 49,874,576 (GRCm39) |
D750G |
probably damaging |
Het |
Ift43 |
T |
A |
12: 86,207,951 (GRCm39) |
D106E |
probably benign |
Het |
Iqub |
T |
A |
6: 24,505,909 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
A |
G |
12: 31,368,466 (GRCm39) |
K1199E |
probably benign |
Het |
Mast3 |
T |
A |
8: 71,239,519 (GRCm39) |
I395F |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,059,207 (GRCm39) |
S2236P |
probably damaging |
Het |
Met |
T |
A |
6: 17,491,256 (GRCm39) |
V6E |
possibly damaging |
Het |
Muc5ac |
A |
T |
7: 141,349,000 (GRCm39) |
T479S |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,100,014 (GRCm39) |
T1623A |
probably benign |
Het |
Neto1 |
T |
C |
18: 86,491,948 (GRCm39) |
L283P |
probably damaging |
Het |
Onecut1 |
A |
G |
9: 74,770,312 (GRCm39) |
N245S |
probably damaging |
Het |
Or2t6 |
T |
C |
14: 14,175,483 (GRCm38) |
I200V |
probably benign |
Het |
Or4k41 |
A |
T |
2: 111,279,492 (GRCm39) |
E2D |
probably benign |
Het |
Or8b52 |
G |
A |
9: 38,577,063 (GRCm39) |
P26S |
possibly damaging |
Het |
Or8g34 |
T |
C |
9: 39,373,579 (GRCm39) |
V284A |
probably damaging |
Het |
Or8i2 |
T |
C |
2: 86,852,621 (GRCm39) |
Q89R |
probably benign |
Het |
Pkd1l1 |
A |
G |
11: 8,784,910 (GRCm39) |
V1958A |
probably benign |
Het |
Plb1 |
C |
T |
5: 32,511,011 (GRCm39) |
A1292V |
probably benign |
Het |
Plekha5 |
A |
G |
6: 140,489,592 (GRCm39) |
E223G |
probably damaging |
Het |
Pou1f1 |
A |
T |
16: 65,326,685 (GRCm39) |
Q121L |
possibly damaging |
Het |
Rbm25 |
G |
A |
12: 83,689,500 (GRCm39) |
G47D |
probably damaging |
Het |
Rif1 |
T |
A |
2: 51,983,588 (GRCm39) |
M577K |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,905,943 (GRCm39) |
E712G |
possibly damaging |
Het |
Snx24 |
A |
G |
18: 53,460,509 (GRCm39) |
N29S |
probably benign |
Het |
Tmem217 |
A |
T |
17: 29,745,532 (GRCm39) |
V66D |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,597,985 (GRCm39) |
N19643H |
probably damaging |
Het |
Uimc1 |
T |
C |
13: 55,178,772 (GRCm39) |
T646A |
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 |
IGL01736:Bivm
|
APN |
1 |
44,180,973 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02332:Bivm
|
APN |
1 |
44,167,880 (GRCm39) |
unclassified |
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 |
2015-04-16 |