Incidental Mutation 'IGL03013:Serpinb9d'
| ID |
407834 |
| 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 # |
IGL03013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33380521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 136
(W136R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
| AlphaFold |
Q8BMT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067198
AA Change: W136R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: W136R
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| B3galt6 |
G |
A |
4: 156,076,215 (GRCm39) |
Q287* |
probably null |
Het |
| C2 |
A |
G |
17: 35,091,435 (GRCm39) |
V353A |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 47,072,483 (GRCm39) |
Y1017F |
possibly damaging |
Het |
| Copz1 |
T |
A |
15: 103,204,995 (GRCm39) |
M118K |
probably benign |
Het |
| Dnm1 |
T |
C |
2: 32,226,296 (GRCm39) |
N298D |
probably benign |
Het |
| Exog |
T |
C |
9: 119,291,679 (GRCm39) |
S295P |
possibly damaging |
Het |
| Ext2 |
A |
T |
2: 93,537,571 (GRCm39) |
|
probably benign |
Het |
| Garin5b |
A |
G |
7: 4,761,632 (GRCm39) |
L360S |
probably benign |
Het |
| Gpatch8 |
T |
C |
11: 102,399,023 (GRCm39) |
I70V |
unknown |
Het |
| Krt5 |
T |
A |
15: 101,620,103 (GRCm39) |
I205L |
probably benign |
Het |
| Leng9 |
A |
G |
7: 4,151,737 (GRCm39) |
V313A |
probably damaging |
Het |
| Macrod2 |
A |
G |
2: 141,357,147 (GRCm39) |
I148V |
probably benign |
Het |
| Mapk14 |
G |
T |
17: 28,947,323 (GRCm39) |
|
probably benign |
Het |
| Mfsd4b3-ps |
A |
T |
10: 39,823,891 (GRCm39) |
M123K |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,561,690 (GRCm39) |
D205G |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,417,665 (GRCm39) |
H3537L |
possibly damaging |
Het |
| Nde1 |
C |
T |
16: 14,009,611 (GRCm39) |
P324L |
probably benign |
Het |
| Nlrp9b |
A |
T |
7: 19,782,750 (GRCm39) |
H888L |
probably damaging |
Het |
| Npy2r |
A |
G |
3: 82,447,819 (GRCm39) |
F319L |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,030,361 (GRCm39) |
V156A |
probably benign |
Het |
| Nxph2 |
T |
C |
2: 23,289,945 (GRCm39) |
I99T |
probably benign |
Het |
| Parpbp |
A |
G |
10: 87,975,840 (GRCm39) |
I91T |
probably damaging |
Het |
| Pld2 |
A |
G |
11: 70,432,003 (GRCm39) |
Y75C |
probably damaging |
Het |
| Pramel12 |
A |
G |
4: 143,144,037 (GRCm39) |
T128A |
possibly damaging |
Het |
| Pramel33 |
A |
T |
5: 93,630,391 (GRCm39) |
S394T |
probably damaging |
Het |
| Prkcb |
C |
A |
7: 122,226,905 (GRCm39) |
D630E |
probably damaging |
Het |
| Prl3c1 |
T |
C |
13: 27,383,349 (GRCm39) |
V5A |
probably benign |
Het |
| Ro60 |
A |
G |
1: 143,646,446 (GRCm39) |
S100P |
probably damaging |
Het |
| Sdcbp2 |
A |
G |
2: 151,429,255 (GRCm39) |
T192A |
probably benign |
Het |
| Sema6a |
C |
T |
18: 47,381,461 (GRCm39) |
A1046T |
probably benign |
Het |
| Serpinb3a |
A |
G |
1: 106,973,813 (GRCm39) |
F366S |
probably damaging |
Het |
| Smc2 |
G |
T |
4: 52,442,280 (GRCm39) |
V66F |
probably damaging |
Het |
| Speg |
A |
G |
1: 75,407,923 (GRCm39) |
D3206G |
probably damaging |
Het |
| Syne2 |
C |
T |
12: 75,976,111 (GRCm39) |
A1187V |
probably benign |
Het |
| Unc5cl |
G |
A |
17: 48,772,049 (GRCm39) |
M442I |
possibly 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 |
|
IGL03027:Serpinb9d
|
APN |
13 |
33,386,698 (GRCm39) |
nonsense |
probably null |
|
|
IGL03056:Serpinb9d
|
APN |
13 |
33,386,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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