Incidental Mutation 'IGL00833:Bpifb9a'
| ID |
9288 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bpifb9a
|
| Ensembl Gene |
ENSMUSG00000067998 |
| Gene Name |
BPI fold containing family B, member 9A |
| Synonyms |
4833413D08Rik, vomeromodulin |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
154099799-154113165 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 154106195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 358
(Q358*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086314
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088924]
|
| AlphaFold |
Q80XI7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000088924
AA Change: Q358*
|
| SMART Domains |
Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: Q358*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
184 |
203 |
N/A |
INTRINSIC |
|
Pfam:LBP_BPI_CETP
|
216 |
377 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126084
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147299
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3a1 |
A |
G |
11: 61,108,006 (GRCm39) |
E350G |
probably damaging |
Het |
| Apob |
T |
C |
12: 8,060,101 (GRCm39) |
V2861A |
probably benign |
Het |
| Cbfa2t2 |
T |
A |
2: 154,370,795 (GRCm39) |
Y423N |
probably damaging |
Het |
| Cd209e |
A |
C |
8: 3,902,800 (GRCm39) |
M102R |
probably benign |
Het |
| Ddx42 |
T |
A |
11: 106,122,004 (GRCm39) |
V173D |
possibly damaging |
Het |
| Dnah11 |
A |
G |
12: 118,143,315 (GRCm39) |
F443L |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,948,859 (GRCm39) |
E901K |
probably damaging |
Het |
| Gp5 |
T |
C |
16: 30,128,284 (GRCm39) |
D130G |
possibly damaging |
Het |
| H2-T3 |
T |
G |
17: 36,497,933 (GRCm39) |
S327R |
probably benign |
Het |
| Myo1e |
T |
C |
9: 70,246,060 (GRCm39) |
I417T |
probably damaging |
Het |
| Nasp |
A |
G |
4: 116,459,933 (GRCm39) |
V377A |
probably damaging |
Het |
| Nbn |
A |
G |
4: 15,964,320 (GRCm39) |
I132V |
probably benign |
Het |
| Nckap5 |
C |
A |
1: 125,954,889 (GRCm39) |
K622N |
probably damaging |
Het |
| Nlrp4e |
G |
A |
7: 23,039,896 (GRCm39) |
V740I |
probably benign |
Het |
| Polr3gl |
T |
G |
3: 96,485,876 (GRCm39) |
D130A |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,006,230 (GRCm39) |
K784R |
possibly damaging |
Het |
| Sycp1 |
A |
G |
3: 102,783,617 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
T |
15: 66,560,650 (GRCm39) |
T1004I |
probably benign |
Het |
| Tmco5b |
T |
A |
2: 113,127,194 (GRCm39) |
I255N |
probably damaging |
Het |
| Ubr4 |
G |
A |
4: 139,120,470 (GRCm39) |
|
probably null |
Het |
| Zeb1 |
A |
G |
18: 5,767,774 (GRCm39) |
T762A |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,649 (GRCm39) |
E296G |
probably damaging |
Het |
|
| Other mutations in Bpifb9a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00899:Bpifb9a
|
APN |
2 |
154,106,647 (GRCm39) |
splice site |
probably null |
|
|
IGL01998:Bpifb9a
|
APN |
2 |
154,110,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02158:Bpifb9a
|
APN |
2 |
154,108,733 (GRCm39) |
splice site |
probably benign |
|
|
IGL02331:Bpifb9a
|
APN |
2 |
154,104,307 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0066:Bpifb9a
|
UTSW |
2 |
154,108,761 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0480:Bpifb9a
|
UTSW |
2 |
154,106,608 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0545:Bpifb9a
|
UTSW |
2 |
154,103,870 (GRCm39) |
nonsense |
probably null |
|
|
R0904:Bpifb9a
|
UTSW |
2 |
154,106,145 (GRCm39) |
splice site |
probably benign |
|
|
R1028:Bpifb9a
|
UTSW |
2 |
154,104,327 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R1158:Bpifb9a
|
UTSW |
2 |
154,104,184 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1465:Bpifb9a
|
UTSW |
2 |
154,112,941 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1465:Bpifb9a
|
UTSW |
2 |
154,112,941 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1902:Bpifb9a
|
UTSW |
2 |
154,103,911 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2015:Bpifb9a
|
UTSW |
2 |
154,110,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2152:Bpifb9a
|
UTSW |
2 |
154,102,055 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2206:Bpifb9a
|
UTSW |
2 |
154,106,161 (GRCm39) |
splice site |
probably null |
|
|
R5410:Bpifb9a
|
UTSW |
2 |
154,112,155 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5731:Bpifb9a
|
UTSW |
2 |
154,104,163 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5818:Bpifb9a
|
UTSW |
2 |
154,104,215 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5865:Bpifb9a
|
UTSW |
2 |
154,108,756 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6564:Bpifb9a
|
UTSW |
2 |
154,102,098 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7291:Bpifb9a
|
UTSW |
2 |
154,109,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7294:Bpifb9a
|
UTSW |
2 |
154,109,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7295:Bpifb9a
|
UTSW |
2 |
154,109,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7453:Bpifb9a
|
UTSW |
2 |
154,106,615 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7570:Bpifb9a
|
UTSW |
2 |
154,104,183 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8187:Bpifb9a
|
UTSW |
2 |
154,111,377 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8245:Bpifb9a
|
UTSW |
2 |
154,104,646 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8459:Bpifb9a
|
UTSW |
2 |
154,102,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8481:Bpifb9a
|
UTSW |
2 |
154,111,399 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation