Incidental Mutation 'IGL03272:Serpinb9f'
| ID |
415291 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Serpinb9f
|
| Ensembl Gene |
ENSMUSG00000038327 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9f |
| Synonyms |
NK21, ovalbumin, Spi13 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
IGL03272
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33508060-33519353 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33511899 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 134
(N134I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075515]
|
| AlphaFold |
Q80UK5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075515
AA Change: N134I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074958
Gene: ENSMUSG00000038327
AA Change: N134I
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
2.03e-166 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp2 |
C |
T |
2: 91,034,578 (GRCm39) |
|
probably benign |
Het |
| B4galnt3 |
T |
C |
6: 120,193,267 (GRCm39) |
D413G |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,102,914 (GRCm39) |
D1357G |
possibly damaging |
Het |
| Dsg1b |
T |
C |
18: 20,530,446 (GRCm39) |
L367P |
probably benign |
Het |
| Emsy |
A |
T |
7: 98,242,969 (GRCm39) |
F1057I |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,334,944 (GRCm39) |
F64L |
possibly damaging |
Het |
| Fat4 |
T |
C |
3: 39,063,852 (GRCm39) |
S4603P |
probably benign |
Het |
| Fyco1 |
T |
C |
9: 123,658,668 (GRCm39) |
T503A |
probably benign |
Het |
| Gpr141b |
A |
T |
13: 19,913,707 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr179 |
T |
C |
11: 97,227,419 (GRCm39) |
T1579A |
possibly damaging |
Het |
| Itgae |
T |
C |
11: 73,024,680 (GRCm39) |
|
probably null |
Het |
| Lrriq3 |
A |
T |
3: 154,806,695 (GRCm39) |
I115F |
probably damaging |
Het |
| Mmrn1 |
A |
G |
6: 60,965,419 (GRCm39) |
D1149G |
probably damaging |
Het |
| Mylk |
A |
C |
16: 34,799,559 (GRCm39) |
K1650Q |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,334,000 (GRCm39) |
|
probably benign |
Het |
| Or5h25 |
A |
C |
16: 58,930,919 (GRCm39) |
V18G |
probably benign |
Het |
| Ovgp1 |
T |
A |
3: 105,888,641 (GRCm39) |
D332E |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,724,049 (GRCm39) |
I296K |
possibly damaging |
Het |
| Psd4 |
A |
G |
2: 24,295,692 (GRCm39) |
|
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,884,802 (GRCm39) |
Q433R |
probably damaging |
Het |
| Slc6a3 |
A |
G |
13: 73,689,048 (GRCm39) |
N124S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,041,710 (GRCm39) |
N1360S |
probably benign |
Het |
| Strc |
G |
A |
2: 121,202,232 (GRCm39) |
T1212I |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,292,942 (GRCm39) |
K472R |
probably benign |
Het |
|
| Other mutations in Serpinb9f |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02113:Serpinb9f
|
APN |
13 |
33,518,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0112:Serpinb9f
|
UTSW |
13 |
33,511,934 (GRCm39) |
splice site |
probably benign |
|
|
R0254:Serpinb9f
|
UTSW |
13 |
33,518,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0498:Serpinb9f
|
UTSW |
13 |
33,509,990 (GRCm39) |
splice site |
probably benign |
|
|
R0711:Serpinb9f
|
UTSW |
13 |
33,511,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1004:Serpinb9f
|
UTSW |
13 |
33,518,225 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R1913:Serpinb9f
|
UTSW |
13 |
33,509,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2214:Serpinb9f
|
UTSW |
13 |
33,518,592 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3908:Serpinb9f
|
UTSW |
13 |
33,511,919 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6182:Serpinb9f
|
UTSW |
13 |
33,518,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6421:Serpinb9f
|
UTSW |
13 |
33,518,516 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6965:Serpinb9f
|
UTSW |
13 |
33,509,859 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7043:Serpinb9f
|
UTSW |
13 |
33,509,970 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7406:Serpinb9f
|
UTSW |
13 |
33,518,543 (GRCm39) |
nonsense |
probably null |
|
|
R8182:Serpinb9f
|
UTSW |
13 |
33,518,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8234:Serpinb9f
|
UTSW |
13 |
33,509,898 (GRCm39) |
missense |
probably benign |
|
|
R8341:Serpinb9f
|
UTSW |
13 |
33,511,290 (GRCm39) |
nonsense |
probably null |
|
|
R8492:Serpinb9f
|
UTSW |
13 |
33,518,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8794:Serpinb9f
|
UTSW |
13 |
33,513,396 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9433:Serpinb9f
|
UTSW |
13 |
33,518,238 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9508:Serpinb9f
|
UTSW |
13 |
33,518,515 (GRCm39) |
missense |
probably benign |
|
|
X0019:Serpinb9f
|
UTSW |
13 |
33,518,517 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Posted On |
2016-08-02 |
Incidental Mutation