Incidental Mutation 'R1174:Bivm'
ID |
99765 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Bivm
|
Ensembl Gene |
ENSMUSG00000041684 |
Gene Name |
basic, immunoglobulin-like variable motif containing |
Synonyms |
|
MMRRC Submission |
039247-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.092)
|
Stock # |
R1174 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
44158117-44183930 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 44165942 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 131
(T131A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110357
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035991]
[ENSMUST00000114709]
[ENSMUST00000129068]
[ENSMUST00000155917]
|
AlphaFold |
Q8CBX9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035991
AA Change: T131A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000041964 Gene: ENSMUSG00000041684 AA Change: T131A
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: T131A
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000110357 Gene: ENSMUSG00000041684 AA Change: T131A
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186280
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610318N02Rik |
T |
A |
16: 16,935,446 (GRCm39) |
H214L |
probably benign |
Het |
Actn3 |
A |
G |
19: 4,914,784 (GRCm39) |
L477P |
probably damaging |
Het |
Adamts12 |
T |
C |
15: 11,071,843 (GRCm39) |
V129A |
probably benign |
Het |
Agxt2 |
T |
C |
15: 10,373,837 (GRCm39) |
F81S |
probably damaging |
Het |
Alpk1 |
T |
A |
3: 127,474,459 (GRCm39) |
S515C |
probably damaging |
Het |
Aoc1l3 |
C |
A |
6: 48,967,173 (GRCm39) |
P707H |
probably damaging |
Het |
Borcs5 |
T |
A |
6: 134,687,096 (GRCm39) |
N150K |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,988,862 (GRCm39) |
V255I |
probably benign |
Het |
Cox4i1 |
C |
A |
8: 121,400,789 (GRCm39) |
N151K |
probably benign |
Het |
Cpeb4 |
T |
C |
11: 31,870,472 (GRCm39) |
L432P |
probably damaging |
Het |
Dnajb11 |
T |
A |
16: 22,689,423 (GRCm39) |
D281E |
probably damaging |
Het |
Eml6 |
A |
G |
11: 29,699,824 (GRCm39) |
S1771P |
possibly damaging |
Het |
Fes |
A |
T |
7: 80,027,699 (GRCm39) |
I815N |
probably damaging |
Het |
Ghrhr |
T |
A |
6: 55,365,254 (GRCm39) |
L416* |
probably null |
Het |
Glipr1l2 |
C |
A |
10: 111,919,371 (GRCm39) |
L31I |
possibly damaging |
Het |
Gm1818 |
A |
G |
12: 48,602,982 (GRCm39) |
|
noncoding transcript |
Het |
Gpr149 |
A |
G |
3: 62,511,888 (GRCm39) |
L37P |
probably damaging |
Het |
Hdac1-ps |
A |
T |
17: 78,799,507 (GRCm39) |
Y166F |
probably benign |
Het |
Hoxa9 |
A |
G |
6: 52,202,693 (GRCm39) |
I131T |
probably damaging |
Het |
Idh1 |
G |
T |
1: 65,200,319 (GRCm39) |
N348K |
probably benign |
Het |
Klf6 |
A |
G |
13: 5,911,711 (GRCm39) |
D25G |
probably benign |
Het |
Laptm4a |
T |
C |
12: 8,986,716 (GRCm39) |
V258A |
probably damaging |
Het |
Lypd6b |
C |
T |
2: 49,833,609 (GRCm39) |
A83V |
possibly damaging |
Het |
Map3k19 |
A |
G |
1: 127,751,617 (GRCm39) |
V578A |
probably benign |
Het |
Mfsd13a |
T |
A |
19: 46,363,125 (GRCm39) |
I511N |
probably benign |
Het |
Mrm3 |
T |
C |
11: 76,140,850 (GRCm39) |
V286A |
probably damaging |
Het |
Muc6 |
C |
T |
7: 141,234,368 (GRCm39) |
G708S |
probably damaging |
Het |
Neurl4 |
T |
C |
11: 69,794,547 (GRCm39) |
|
probably null |
Het |
Pclo |
T |
C |
5: 14,727,660 (GRCm39) |
|
probably benign |
Het |
Pcnt |
A |
T |
10: 76,228,878 (GRCm39) |
|
probably null |
Het |
Pik3r4 |
G |
T |
9: 105,540,373 (GRCm39) |
G754C |
probably damaging |
Het |
Qtrt1 |
A |
G |
9: 21,323,782 (GRCm39) |
T136A |
probably benign |
Het |
Rgs12 |
T |
A |
5: 35,123,809 (GRCm39) |
C531S |
probably benign |
Het |
Rin1 |
C |
A |
19: 5,105,231 (GRCm39) |
Q764K |
probably benign |
Het |
Robo4 |
C |
T |
9: 37,324,348 (GRCm39) |
R959W |
probably damaging |
Het |
Rxfp2 |
T |
C |
5: 149,975,021 (GRCm39) |
V210A |
probably benign |
Het |
Serpinb9d |
C |
T |
13: 33,384,608 (GRCm39) |
P195L |
probably benign |
Het |
Sos1 |
A |
C |
17: 80,753,037 (GRCm39) |
Y323* |
probably null |
Het |
Spmip4 |
T |
A |
6: 50,566,121 (GRCm39) |
K118M |
probably damaging |
Het |
Ssxb8 |
T |
G |
X: 8,556,062 (GRCm39) |
H88P |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 133,031,834 (GRCm39) |
E308G |
probably benign |
Het |
Tdo2 |
A |
T |
3: 81,881,683 (GRCm39) |
S40R |
probably damaging |
Het |
Tle4 |
C |
T |
19: 14,445,626 (GRCm39) |
V207I |
probably benign |
Het |
Txlnb |
A |
G |
10: 17,718,504 (GRCm39) |
N445S |
probably benign |
Het |
Ubap2l |
A |
T |
3: 89,930,807 (GRCm39) |
S413T |
probably benign |
Het |
Vangl2 |
G |
T |
1: 171,832,353 (GRCm39) |
T501N |
probably damaging |
Het |
Vmn2r12 |
A |
T |
5: 109,240,720 (GRCm39) |
I131N |
probably benign |
Het |
Vwa1 |
C |
T |
4: 155,857,723 (GRCm39) |
G25D |
probably damaging |
Het |
Zfp185 |
A |
T |
X: 72,042,929 (GRCm39) |
E138D |
possibly 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 |
|
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 |
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 |
|
Predicted Primers |
|
Posted On |
2014-01-15 |