Incidental Mutation 'IGL00791:Serpinb9c'
ID |
13982 |
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 # |
IGL00791
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33333258-33343725 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 33335867 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 195
(V195E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105913
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021837]
[ENSMUST00000110284]
[ENSMUST00000135897]
|
AlphaFold |
I7HJI5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021837
AA Change: V223E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000021837 Gene: ENSMUSG00000021404 AA Change: V223E
Domain | Start | End | E-Value | Type |
SERPIN
|
24 |
387 |
2.85e-152 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110284
AA Change: V195E
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105913 Gene: ENSMUSG00000021404 AA Change: V195E
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
Ceacam13 |
A |
G |
7: 17,747,278 (GRCm39) |
T244A |
possibly damaging |
Het |
Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
Cnot9 |
T |
C |
1: 74,561,533 (GRCm39) |
V126A |
probably benign |
Het |
Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
Gsdmc |
A |
T |
15: 63,676,284 (GRCm39) |
I53N |
possibly damaging |
Het |
Hexd |
A |
G |
11: 121,111,986 (GRCm39) |
S427G |
probably benign |
Het |
Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
Taf15 |
A |
G |
11: 83,379,749 (GRCm39) |
|
probably null |
Het |
Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
Other mutations in Serpinb9c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |