Incidental Mutation 'R3948:Serpinb9c'
| ID |
359688 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Serpinb9c
|
| Ensembl Gene |
ENSMUSG00000021404 |
| Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9c |
| Synonyms |
3830421J05Rik, Spi11, NK9, ovalbumin |
| MMRRC Submission |
040928-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3948 (G1)
|
| Quality Score |
20 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
33333258-33343725 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 33334077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Glycine
at position 322
(C322G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105913
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021837]
[ENSMUST00000110284]
|
| AlphaFold |
I7HJI5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021837
AA Change: C350G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021837
Gene: ENSMUSG00000021404
AA Change: C350G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
24 |
387 |
2.85e-152 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110284
AA Change: C322G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105913
Gene: ENSMUSG00000021404
AA Change: C322G
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
1 |
359 |
1.21e-146 |
SMART |
|
| Meta Mutation Damage Score |
0.1874 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.6%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acnat1 |
A |
G |
4: 49,447,477 (GRCm39) |
L368P |
possibly damaging |
Het |
| Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
| Ankrd50 |
A |
G |
3: 38,536,990 (GRCm39) |
L121S |
possibly damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Avil |
A |
G |
10: 126,850,074 (GRCm39) |
S642G |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
T |
C |
5: 52,318,922 (GRCm39) |
|
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
| Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,662,615 (GRCm39) |
|
probably benign |
Het |
| H2-T24 |
T |
C |
17: 36,328,264 (GRCm39) |
Y73C |
probably damaging |
Het |
| Hal |
T |
C |
10: 93,325,769 (GRCm39) |
I94T |
possibly damaging |
Het |
| Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
| Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
| Kcnj2 |
A |
G |
11: 110,963,481 (GRCm39) |
D291G |
possibly damaging |
Het |
| Krtap13 |
A |
G |
16: 88,547,957 (GRCm39) |
L177P |
possibly damaging |
Het |
| Mios |
A |
G |
6: 8,215,496 (GRCm39) |
T231A |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odr4 |
A |
T |
1: 150,264,308 (GRCm39) |
L67* |
probably null |
Het |
| Or4c122 |
A |
G |
2: 89,079,336 (GRCm39) |
F234S |
possibly damaging |
Het |
| Pramel30 |
A |
C |
4: 144,057,876 (GRCm39) |
Q161P |
probably benign |
Het |
| Ralgapa1 |
C |
A |
12: 55,745,552 (GRCm39) |
V1268F |
probably damaging |
Het |
| Rev1 |
A |
T |
1: 38,113,414 (GRCm39) |
M551K |
possibly damaging |
Het |
| Slc28a3 |
C |
T |
13: 58,710,824 (GRCm39) |
|
probably null |
Het |
| Slc35e4 |
A |
T |
11: 3,862,970 (GRCm39) |
V73E |
probably damaging |
Het |
| Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
| Trim5 |
G |
A |
7: 103,915,727 (GRCm39) |
Q273* |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,867,910 (GRCm39) |
T1974M |
probably damaging |
Het |
| Wdr25 |
T |
A |
12: 108,993,208 (GRCm39) |
C475S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,119,721 (GRCm39) |
H175N |
probably benign |
Het |
| Zfp248 |
TTAAATTCAT |
TT |
6: 118,407,155 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Serpinb9c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Serpinb9c
|
APN |
13 |
33,335,867 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01357:Serpinb9c
|
APN |
13 |
33,335,862 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01413:Serpinb9c
|
APN |
13 |
33,335,787 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1411:Serpinb9c
|
UTSW |
13 |
33,335,817 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1926:Serpinb9c
|
UTSW |
13 |
33,334,218 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2057:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2058:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2059:Serpinb9c
|
UTSW |
13 |
33,340,854 (GRCm39) |
nonsense |
probably null |
|
|
R2272:Serpinb9c
|
UTSW |
13 |
33,338,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4520:Serpinb9c
|
UTSW |
13 |
33,335,840 (GRCm39) |
splice site |
probably null |
|
|
R4558:Serpinb9c
|
UTSW |
13 |
33,338,482 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4735:Serpinb9c
|
UTSW |
13 |
33,334,254 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5004:Serpinb9c
|
UTSW |
13 |
33,334,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5009:Serpinb9c
|
UTSW |
13 |
33,338,414 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6345:Serpinb9c
|
UTSW |
13 |
33,333,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6801:Serpinb9c
|
UTSW |
13 |
33,341,807 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R6886:Serpinb9c
|
UTSW |
13 |
33,334,310 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7082:Serpinb9c
|
UTSW |
13 |
33,338,390 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7288:Serpinb9c
|
UTSW |
13 |
33,335,883 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7988:Serpinb9c
|
UTSW |
13 |
33,334,262 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8309:Serpinb9c
|
UTSW |
13 |
33,334,094 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8465:Serpinb9c
|
UTSW |
13 |
33,334,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Serpinb9c
|
UTSW |
13 |
33,340,417 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8750:Serpinb9c
|
UTSW |
13 |
33,335,793 (GRCm39) |
missense |
probably null |
0.93 |
|
R9002:Serpinb9c
|
UTSW |
13 |
33,334,329 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9412:Serpinb9c
|
UTSW |
13 |
33,334,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAGTGCCCTTATTGTGGAAGG -3'
(R):5'- GTCCATCTTTCAGGACTTGGG -3'
Sequencing Primer
(F):5'- GTCCATTCTCACAGAGCTATAGGAG -3'
(R):5'- CCATCTTTCAGGACTTGGGAGTGG -3'
|
| Posted On |
2015-11-19 |
Incidental Mutation