Incidental Mutation 'R1177:Bivm'
| ID |
100020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Bivm
|
| Ensembl Gene |
ENSMUSG00000041684 |
| Gene Name |
basic, immunoglobulin-like variable motif containing |
| Synonyms |
|
| MMRRC Submission |
039249-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.092)
|
| Stock # |
R1177 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
44158117-44183930 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 44182123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 444
(V444I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027214]
[ENSMUST00000035991]
[ENSMUST00000114709]
|
| AlphaFold |
Q8CBX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027214
|
| SMART Domains |
Protein: ENSMUSP00000027214
Gene: ENSMUSG00000026048
| Domain | Start | End | E-Value | Type |
|---|
|
XPGN
|
1 |
98 |
3.49e-50 |
SMART |
|
low complexity region
|
104 |
115 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
326 |
N/A |
INTRINSIC |
|
low complexity region
|
331 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
641 |
650 |
N/A |
INTRINSIC |
|
XPGI
|
776 |
845 |
1.02e-33 |
SMART |
|
HhH2
|
847 |
880 |
2.94e-11 |
SMART |
|
low complexity region
|
1130 |
1140 |
N/A |
INTRINSIC |
|
low complexity region
|
1155 |
1169 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035991
AA Change: V444I
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000041964
Gene: ENSMUSG00000041684
AA Change: V444I
| 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: V444I
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110357
Gene: ENSMUSG00000041684
AA Change: V444I
| 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 |
noncoding transcript
Transcript: ENSMUST00000131177
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139510
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145406
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188376
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 94.9%
- 20x: 87.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bbs7 |
A |
T |
3: 36,664,329 (GRCm39) |
|
probably null |
Het |
| Cers4 |
A |
G |
8: 4,566,931 (GRCm39) |
I78V |
probably null |
Het |
| Chgb |
A |
G |
2: 132,635,390 (GRCm39) |
Y444C |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,791,509 (GRCm39) |
V1161A |
unknown |
Het |
| Dpp6 |
A |
G |
5: 27,868,471 (GRCm39) |
D478G |
possibly damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,179,902 (GRCm39) |
V274A |
probably damaging |
Het |
| Fkrp |
T |
C |
7: 16,544,452 (GRCm39) |
E470G |
probably damaging |
Het |
| Lrrc8c |
T |
C |
5: 105,754,702 (GRCm39) |
I159T |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
| Map3k21 |
A |
T |
8: 126,671,577 (GRCm39) |
Q955L |
probably benign |
Het |
| Mast3 |
A |
G |
8: 71,232,968 (GRCm39) |
S1115P |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,756,927 (GRCm39) |
F1048S |
probably damaging |
Het |
| Mthfd1l |
A |
C |
10: 3,935,661 (GRCm39) |
K212T |
possibly damaging |
Het |
| Myo5b |
G |
A |
18: 74,777,143 (GRCm39) |
R401H |
probably damaging |
Het |
| Naip1 |
C |
T |
13: 100,563,572 (GRCm39) |
S531N |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 70,998,547 (GRCm39) |
V884A |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,740,091 (GRCm39) |
M161K |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,109,310 (GRCm39) |
T1618A |
probably benign |
Het |
| Or10d4 |
A |
G |
9: 39,580,937 (GRCm39) |
R195G |
probably benign |
Het |
| Or2b4 |
A |
T |
17: 38,116,843 (GRCm39) |
E269V |
probably benign |
Het |
| Or4c105 |
A |
G |
2: 88,647,704 (GRCm39) |
Y63C |
probably benign |
Het |
| Ppp4r4 |
G |
A |
12: 103,542,582 (GRCm39) |
A115T |
possibly damaging |
Het |
| Rag1 |
T |
C |
2: 101,472,623 (GRCm39) |
R840G |
probably benign |
Het |
| Slc44a2 |
A |
T |
9: 21,259,879 (GRCm39) |
Q629L |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,196,646 (GRCm39) |
|
probably null |
Het |
| Spag1 |
A |
T |
15: 36,234,913 (GRCm39) |
T859S |
probably benign |
Het |
| Sv2c |
G |
T |
13: 96,126,271 (GRCm39) |
A327E |
possibly damaging |
Het |
| Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
| Tlr2 |
A |
G |
3: 83,746,041 (GRCm39) |
I14T |
probably benign |
Het |
| Trpc6 |
G |
A |
9: 8,658,305 (GRCm39) |
R725K |
probably benign |
Het |
| Wdr90 |
A |
G |
17: 26,065,028 (GRCm39) |
V1688A |
possibly damaging |
Het |
| Zfhx4 |
ACCTCCTCCTCCTCCTCCTCC |
ACCTCCTCCTCCTCCTCC |
3: 5,465,891 (GRCm39) |
|
probably benign |
Het |
| Zfp94 |
T |
C |
7: 24,002,953 (GRCm39) |
Y163C |
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 |
|
|
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 |
|
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 |
Incidental Mutation