Incidental Mutation 'IGL01833:Serpinb9d'
| ID |
154842 |
| 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 # |
IGL01833
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33376942-33387112 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33384688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 222
(Y222H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000067710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067198]
|
| AlphaFold |
Q8BMT0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067198
AA Change: Y222H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000067710
Gene: ENSMUSG00000054266
AA Change: Y222H
| 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 |
|---|
| Acsbg3 |
A |
G |
17: 57,188,062 (GRCm39) |
N190S |
probably benign |
Het |
| Adamts18 |
T |
A |
8: 114,469,728 (GRCm39) |
Y658F |
probably benign |
Het |
| Camsap3 |
T |
A |
8: 3,658,508 (GRCm39) |
L1151Q |
probably damaging |
Het |
| Casp14 |
T |
A |
10: 78,551,237 (GRCm39) |
Y16F |
probably damaging |
Het |
| Clip2 |
A |
T |
5: 134,526,938 (GRCm39) |
|
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,134,785 (GRCm39) |
|
probably benign |
Het |
| Cyb5r4 |
G |
A |
9: 86,941,505 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,827,874 (GRCm39) |
N2329K |
unknown |
Het |
| Fam163a |
T |
A |
1: 155,955,742 (GRCm39) |
I17F |
probably damaging |
Het |
| Galnt1 |
T |
A |
18: 24,400,617 (GRCm39) |
I241N |
probably damaging |
Het |
| Galnt14 |
T |
G |
17: 73,811,899 (GRCm39) |
I441L |
probably benign |
Het |
| Gpr45 |
T |
C |
1: 43,071,402 (GRCm39) |
L15P |
probably benign |
Het |
| Hivep1 |
A |
T |
13: 42,308,464 (GRCm39) |
K235* |
probably null |
Het |
| Kcnip2 |
T |
C |
19: 45,782,746 (GRCm39) |
|
probably null |
Het |
| Kpna3 |
T |
C |
14: 61,607,894 (GRCm39) |
N437S |
possibly damaging |
Het |
| Lmtk2 |
A |
T |
5: 144,112,753 (GRCm39) |
R1158* |
probably null |
Het |
| Lpo |
A |
G |
11: 87,698,159 (GRCm39) |
V612A |
possibly damaging |
Het |
| Myh15 |
T |
C |
16: 48,934,421 (GRCm39) |
C663R |
probably damaging |
Het |
| Nacad |
G |
A |
11: 6,555,700 (GRCm39) |
R17C |
unknown |
Het |
| Or7a35 |
A |
T |
10: 78,853,770 (GRCm39) |
M205L |
probably benign |
Het |
| Pcsk2 |
A |
G |
2: 143,529,500 (GRCm39) |
Q99R |
possibly damaging |
Het |
| Pkd1l2 |
T |
C |
8: 117,787,264 (GRCm39) |
N593S |
probably benign |
Het |
| Plce1 |
G |
A |
19: 38,709,425 (GRCm39) |
S1093N |
probably damaging |
Het |
| Prxl2b |
G |
T |
4: 154,981,059 (GRCm39) |
|
probably benign |
Het |
| Rhpn2 |
T |
A |
7: 35,075,596 (GRCm39) |
Y258N |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,066,806 (GRCm39) |
L1401P |
probably damaging |
Het |
| Slc5a7 |
A |
G |
17: 54,588,861 (GRCm39) |
L262P |
probably damaging |
Het |
| Stat2 |
T |
G |
10: 128,117,045 (GRCm39) |
F293V |
probably benign |
Het |
| Stpg4 |
T |
A |
17: 87,702,585 (GRCm39) |
|
probably null |
Het |
| Styk1 |
G |
T |
6: 131,279,329 (GRCm39) |
|
probably benign |
Het |
| Sult2a2 |
T |
A |
7: 13,468,721 (GRCm39) |
D62E |
probably damaging |
Het |
| Sytl2 |
G |
A |
7: 90,045,745 (GRCm39) |
V632M |
probably damaging |
Het |
| Themis |
C |
T |
10: 28,658,307 (GRCm39) |
Q445* |
probably null |
Het |
| Tmem225 |
A |
T |
9: 40,059,725 (GRCm39) |
E35V |
probably damaging |
Het |
| Vmn1r48 |
T |
A |
6: 90,013,265 (GRCm39) |
T187S |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,988,824 (GRCm39) |
Y463H |
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 |
|
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 |
|
|
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 |
2014-02-04 |
Incidental Mutation