Incidental Mutation 'IGL03056:Serpinb9d'
| ID |
409221 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb9d
|
| Ensembl Gene |
ENSMUSG00000054266 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9d |
| Synonyms |
Spi9, AT2, ovalbumin |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.065)
|
| Stock # |
IGL03056
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33386736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 268
(V268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
| AlphaFold |
Q8BMT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067198
AA Change: V268A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: V268A
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
1.79e-167 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,647,862 (GRCm39) |
H1118R |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,958,947 (GRCm39) |
V339I |
probably damaging |
Het |
| Ank1 |
G |
T |
8: 23,631,195 (GRCm39) |
V107F |
probably damaging |
Het |
| Aox3 |
T |
C |
1: 58,198,180 (GRCm39) |
|
probably null |
Het |
| Cd160 |
T |
C |
3: 96,713,127 (GRCm39) |
T46A |
probably benign |
Het |
| Cimip2a |
T |
A |
2: 25,111,367 (GRCm39) |
M232K |
possibly damaging |
Het |
| Col20a1 |
A |
T |
2: 180,636,682 (GRCm39) |
Y221F |
probably damaging |
Het |
| Ddx18 |
C |
T |
1: 121,492,264 (GRCm39) |
A148T |
probably benign |
Het |
| Dennd5b |
A |
G |
6: 148,956,570 (GRCm39) |
M307T |
probably damaging |
Het |
| Fam216b |
G |
A |
14: 78,320,223 (GRCm39) |
H86Y |
probably benign |
Het |
| Fh1 |
A |
T |
1: 175,433,728 (GRCm39) |
C374S |
probably damaging |
Het |
| Fkbp14 |
A |
G |
6: 54,556,529 (GRCm39) |
V207A |
probably benign |
Het |
| Gucy1a1 |
T |
C |
3: 82,020,594 (GRCm39) |
K101R |
probably benign |
Het |
| Kcnk2 |
G |
T |
1: 189,027,908 (GRCm39) |
Q116K |
possibly damaging |
Het |
| Kdm5b |
C |
A |
1: 134,515,717 (GRCm39) |
Q114K |
probably damaging |
Het |
| Kif12 |
C |
T |
4: 63,085,193 (GRCm39) |
R516Q |
probably null |
Het |
| Lca5l |
C |
T |
16: 95,962,551 (GRCm39) |
C463Y |
probably benign |
Het |
| Lgsn |
T |
A |
1: 31,242,705 (GRCm39) |
Y262* |
probably null |
Het |
| Lig4 |
A |
G |
8: 10,022,580 (GRCm39) |
I400T |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,503,409 (GRCm39) |
|
probably null |
Het |
| Mprip |
T |
A |
11: 59,662,518 (GRCm39) |
I2243N |
probably damaging |
Het |
| Myo1f |
A |
T |
17: 33,804,574 (GRCm39) |
Y426F |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,795 (GRCm39) |
S414C |
possibly damaging |
Het |
| Nrg1 |
T |
C |
8: 32,311,451 (GRCm39) |
I363V |
possibly damaging |
Het |
| Or4f54 |
A |
T |
2: 111,123,517 (GRCm39) |
R301S |
possibly damaging |
Het |
| Or52r1b |
A |
T |
7: 102,690,958 (GRCm39) |
I86L |
possibly damaging |
Het |
| Slc15a1 |
A |
G |
14: 121,728,695 (GRCm39) |
F17L |
possibly damaging |
Het |
| Slc9a3 |
T |
A |
13: 74,298,938 (GRCm39) |
V119E |
probably damaging |
Het |
| Sspo |
T |
A |
6: 48,447,472 (GRCm39) |
M2346K |
probably benign |
Het |
| Tcf4 |
G |
T |
18: 69,784,283 (GRCm39) |
|
probably benign |
Het |
| Trabd2b |
T |
C |
4: 114,266,535 (GRCm39) |
V183A |
probably damaging |
Het |
| Ust |
T |
C |
10: 8,083,326 (GRCm39) |
H350R |
probably benign |
Het |
| Zfp952 |
T |
A |
17: 33,221,740 (GRCm39) |
V35E |
probably damaging |
Het |
|
| Other mutations in Serpinb9d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01516:Serpinb9d
|
APN |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
|
IGL01610:Serpinb9d
|
APN |
13 |
33,381,985 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL01702:Serpinb9d
|
APN |
13 |
33,387,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01833:Serpinb9d
|
APN |
13 |
33,384,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02029:Serpinb9d
|
APN |
13 |
33,380,512 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL03013:Serpinb9d
|
APN |
13 |
33,380,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Serpinb9d
|
APN |
13 |
33,386,698 (GRCm39) |
nonsense |
probably null |
|
|
IGL03189:Serpinb9d
|
APN |
13 |
33,386,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03206:Serpinb9d
|
APN |
13 |
33,382,014 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0217:Serpinb9d
|
UTSW |
13 |
33,382,005 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0370:Serpinb9d
|
UTSW |
13 |
33,379,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1174:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1175:Serpinb9d
|
UTSW |
13 |
33,384,608 (GRCm39) |
missense |
probably benign |
0.23 |
|
R1711:Serpinb9d
|
UTSW |
13 |
33,384,731 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1716:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Serpinb9d
|
UTSW |
13 |
33,381,946 (GRCm39) |
splice site |
probably null |
|
|
R2186:Serpinb9d
|
UTSW |
13 |
33,387,030 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2497:Serpinb9d
|
UTSW |
13 |
33,380,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4198:Serpinb9d
|
UTSW |
13 |
33,386,948 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4198:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
|
R4199:Serpinb9d
|
UTSW |
13 |
33,386,657 (GRCm39) |
splice site |
probably null |
|
|
R4584:Serpinb9d
|
UTSW |
13 |
33,384,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Serpinb9d
|
UTSW |
13 |
33,386,836 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5573:Serpinb9d
|
UTSW |
13 |
33,380,423 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5627:Serpinb9d
|
UTSW |
13 |
33,386,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6336:Serpinb9d
|
UTSW |
13 |
33,378,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Serpinb9d
|
UTSW |
13 |
33,380,541 (GRCm39) |
missense |
probably benign |
|
|
R6948:Serpinb9d
|
UTSW |
13 |
33,384,706 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7271:Serpinb9d
|
UTSW |
13 |
33,378,617 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7336:Serpinb9d
|
UTSW |
13 |
33,384,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7436:Serpinb9d
|
UTSW |
13 |
33,379,916 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7675:Serpinb9d
|
UTSW |
13 |
33,386,759 (GRCm39) |
nonsense |
probably null |
|
|
R7874:Serpinb9d
|
UTSW |
13 |
33,386,654 (GRCm39) |
splice site |
probably null |
|
|
R9188:Serpinb9d
|
UTSW |
13 |
33,386,843 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9775:Serpinb9d
|
UTSW |
13 |
33,382,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation