Incidental Mutation 'IGL01357:Serpinb9c'
ID |
75552 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb9c
|
Ensembl Gene |
ENSMUSG00000021404 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9c |
Synonyms |
3830421J05Rik, Spi11, NK9, ovalbumin |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01357
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33333258-33343725 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 33335862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 197
(V197I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021837]
[ENSMUST00000110284]
[ENSMUST00000135897]
|
AlphaFold |
I7HJI5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000021837
AA Change: V225I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000021837 Gene: ENSMUSG00000021404 AA Change: V225I
Domain | Start | End | E-Value | Type |
SERPIN
|
24 |
387 |
2.85e-152 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110284
AA Change: V197I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000105913 Gene: ENSMUSG00000021404 AA Change: V197I
Domain | Start | End | E-Value | Type |
SERPIN
|
1 |
359 |
1.21e-146 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135897
|
SMART Domains |
Protein: ENSMUSP00000116267 Gene: ENSMUSG00000021404
Domain | Start | End | E-Value | Type |
Pfam:Serpin
|
1 |
88 |
7.2e-20 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
C |
A |
8: 125,366,072 (GRCm39) |
V224F |
probably damaging |
Het |
Abca4 |
T |
A |
3: 121,897,232 (GRCm39) |
M637K |
probably damaging |
Het |
Abca8a |
A |
G |
11: 109,922,398 (GRCm39) |
V1395A |
probably benign |
Het |
Adam20 |
A |
C |
8: 41,249,597 (GRCm39) |
D569A |
probably benign |
Het |
Axl |
A |
G |
7: 25,473,594 (GRCm39) |
L344P |
probably benign |
Het |
B3gat1 |
T |
C |
9: 26,668,283 (GRCm39) |
L291P |
probably damaging |
Het |
Cdc25c |
A |
T |
18: 34,867,910 (GRCm39) |
|
probably null |
Het |
Crat |
A |
T |
2: 30,297,736 (GRCm39) |
Y263N |
probably damaging |
Het |
Crb2 |
A |
G |
2: 37,685,523 (GRCm39) |
|
probably benign |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dnah7a |
A |
T |
1: 53,701,540 (GRCm39) |
V205D |
probably benign |
Het |
Emsy |
A |
T |
7: 98,240,077 (GRCm39) |
Y1011* |
probably null |
Het |
Fbln5 |
C |
T |
12: 101,717,146 (GRCm39) |
S414N |
probably damaging |
Het |
Fev |
T |
C |
1: 74,921,683 (GRCm39) |
E89G |
possibly damaging |
Het |
Fgg |
A |
G |
3: 82,921,535 (GRCm39) |
E406G |
possibly damaging |
Het |
Glra1 |
A |
T |
11: 55,405,715 (GRCm39) |
M425K |
possibly damaging |
Het |
Gm8214 |
C |
T |
1: 183,414,129 (GRCm39) |
|
noncoding transcript |
Het |
Kdm3b |
A |
G |
18: 34,926,067 (GRCm39) |
E69G |
probably damaging |
Het |
Kntc1 |
T |
A |
5: 123,895,877 (GRCm39) |
V89E |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,206,083 (GRCm39) |
N361I |
unknown |
Het |
Macrod2 |
A |
G |
2: 142,226,250 (GRCm39) |
N457S |
probably damaging |
Het |
Mal |
C |
A |
2: 127,482,234 (GRCm39) |
M56I |
probably damaging |
Het |
Mfsd5 |
C |
T |
15: 102,189,882 (GRCm39) |
T418M |
probably benign |
Het |
Mmaa |
C |
A |
8: 79,994,600 (GRCm39) |
R402L |
probably benign |
Het |
Myo15a |
T |
C |
11: 60,393,115 (GRCm39) |
|
probably benign |
Het |
Nme1 |
A |
G |
11: 93,850,317 (GRCm39) |
S122P |
possibly damaging |
Het |
Nxt1 |
A |
G |
2: 148,517,316 (GRCm39) |
E19G |
probably damaging |
Het |
Nynrin |
A |
T |
14: 56,107,874 (GRCm39) |
T994S |
probably benign |
Het |
Orc2 |
T |
G |
1: 58,536,551 (GRCm39) |
E56D |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,536,552 (GRCm39) |
E56G |
probably benign |
Het |
Pid1 |
G |
A |
1: 84,016,026 (GRCm39) |
T113I |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,340,900 (GRCm39) |
|
probably benign |
Het |
Rad50 |
A |
G |
11: 53,597,848 (GRCm39) |
V12A |
probably damaging |
Het |
Sfxn2 |
A |
T |
19: 46,574,212 (GRCm39) |
N134I |
probably damaging |
Het |
Spen |
T |
C |
4: 141,244,424 (GRCm39) |
R204G |
unknown |
Het |
Strip2 |
A |
G |
6: 29,939,166 (GRCm39) |
|
probably benign |
Het |
Tas2r135 |
A |
T |
6: 42,383,078 (GRCm39) |
I206L |
probably benign |
Het |
Tmem243 |
A |
G |
5: 9,151,348 (GRCm39) |
T11A |
probably damaging |
Het |
Tmprss11c |
A |
G |
5: 86,379,666 (GRCm39) |
V401A |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,392,808 (GRCm39) |
I241N |
probably damaging |
Het |
Ttn |
A |
C |
2: 76,781,864 (GRCm39) |
S1015A |
possibly damaging |
Het |
Wee1 |
T |
C |
7: 109,741,242 (GRCm39) |
S622P |
probably benign |
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 |
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 |
R3948:Serpinb9c
|
UTSW |
13 |
33,334,077 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2013-10-07 |