Incidental Mutation 'IGL01553:Serpinb6b'
ID |
90631 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb6b
|
Ensembl Gene |
ENSMUSG00000042842 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 6b |
Synonyms |
NK13, ovalbumin, Spi12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
IGL01553
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33149192-33163050 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 33158931 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 44
(L44P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152419
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017184]
[ENSMUST00000110293]
[ENSMUST00000164541]
|
AlphaFold |
O08804 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017184
AA Change: L163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000017184 Gene: ENSMUSG00000042842 AA Change: L163P
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
208 |
1.22e-10 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110293
AA Change: L163P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105922 Gene: ENSMUSG00000042842 AA Change: L163P
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
1.99e-174 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000164541
AA Change: L44P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222967
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c13 |
T |
A |
13: 4,244,774 (GRCm39) |
H117Q |
probably damaging |
Het |
Arhgap44 |
T |
C |
11: 64,943,944 (GRCm39) |
N188S |
probably damaging |
Het |
Bach1 |
T |
A |
16: 87,519,393 (GRCm39) |
I561N |
probably damaging |
Het |
Bsph2 |
G |
T |
7: 13,290,645 (GRCm39) |
T78K |
probably damaging |
Het |
Ccdc178 |
A |
G |
18: 22,048,063 (GRCm39) |
Y776H |
probably damaging |
Het |
Ccdc7a |
T |
C |
8: 129,753,072 (GRCm39) |
|
probably benign |
Het |
Cenpp |
C |
T |
13: 49,618,252 (GRCm39) |
V218M |
probably damaging |
Het |
Dnmt3l |
A |
G |
10: 77,899,082 (GRCm39) |
S94G |
probably benign |
Het |
Dock7 |
A |
T |
4: 98,833,803 (GRCm39) |
Y1839* |
probably null |
Het |
Gabra6 |
T |
A |
11: 42,206,023 (GRCm39) |
T278S |
probably damaging |
Het |
Galnt11 |
G |
A |
5: 25,452,718 (GRCm39) |
D77N |
probably benign |
Het |
Gm17175 |
T |
C |
14: 51,808,279 (GRCm39) |
D171G |
probably benign |
Het |
Iqch |
T |
C |
9: 63,408,199 (GRCm39) |
N655S |
probably benign |
Het |
Kdm1b |
T |
A |
13: 47,234,024 (GRCm39) |
I786N |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,386,956 (GRCm39) |
Q976* |
probably null |
Het |
Mbtd1 |
T |
A |
11: 93,814,040 (GRCm39) |
C228S |
probably benign |
Het |
Myo10 |
T |
C |
15: 25,776,415 (GRCm39) |
L46P |
probably damaging |
Het |
Niban3 |
G |
T |
8: 72,055,546 (GRCm39) |
A319S |
possibly damaging |
Het |
Nup133 |
A |
G |
8: 124,642,063 (GRCm39) |
V800A |
possibly damaging |
Het |
Or5h23 |
G |
T |
16: 58,906,685 (GRCm39) |
H54N |
probably benign |
Het |
Prkca |
C |
T |
11: 107,948,660 (GRCm39) |
G110R |
probably benign |
Het |
Samd9l |
A |
T |
6: 3,375,566 (GRCm39) |
M565K |
probably damaging |
Het |
Scgn |
T |
C |
13: 24,143,662 (GRCm39) |
Q77R |
probably benign |
Het |
Tfrc |
T |
C |
16: 32,447,403 (GRCm39) |
V673A |
probably benign |
Het |
Tsfm |
G |
A |
10: 126,864,259 (GRCm39) |
T152M |
probably benign |
Het |
Wdfy3 |
A |
T |
5: 102,047,897 (GRCm39) |
C1803S |
probably benign |
Het |
|
Other mutations in Serpinb6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00719:Serpinb6b
|
APN |
13 |
33,155,529 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01077:Serpinb6b
|
APN |
13 |
33,162,049 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL02981:Serpinb6b
|
APN |
13 |
33,155,589 (GRCm39) |
missense |
probably benign |
0.34 |
R0308:Serpinb6b
|
UTSW |
13 |
33,162,220 (GRCm39) |
missense |
probably benign |
0.09 |
R1568:Serpinb6b
|
UTSW |
13 |
33,158,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R1692:Serpinb6b
|
UTSW |
13 |
33,158,978 (GRCm39) |
missense |
probably damaging |
1.00 |
R1763:Serpinb6b
|
UTSW |
13 |
33,162,041 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1918:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1919:Serpinb6b
|
UTSW |
13 |
33,162,223 (GRCm39) |
missense |
probably benign |
|
R1920:Serpinb6b
|
UTSW |
13 |
33,158,991 (GRCm39) |
missense |
possibly damaging |
0.47 |
R3032:Serpinb6b
|
UTSW |
13 |
33,152,551 (GRCm39) |
missense |
possibly damaging |
0.78 |
R4239:Serpinb6b
|
UTSW |
13 |
33,156,246 (GRCm39) |
missense |
probably damaging |
0.96 |
R5089:Serpinb6b
|
UTSW |
13 |
33,162,133 (GRCm39) |
missense |
probably benign |
|
R5503:Serpinb6b
|
UTSW |
13 |
33,161,642 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5540:Serpinb6b
|
UTSW |
13 |
33,161,541 (GRCm39) |
nonsense |
probably null |
|
R6061:Serpinb6b
|
UTSW |
13 |
33,161,977 (GRCm39) |
missense |
probably damaging |
0.99 |
R6253:Serpinb6b
|
UTSW |
13 |
33,156,255 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Serpinb6b
|
UTSW |
13 |
33,155,598 (GRCm39) |
missense |
probably benign |
0.09 |
R7248:Serpinb6b
|
UTSW |
13 |
33,161,559 (GRCm39) |
missense |
probably benign |
0.23 |
R7315:Serpinb6b
|
UTSW |
13 |
33,156,240 (GRCm39) |
missense |
probably benign |
0.41 |
R7424:Serpinb6b
|
UTSW |
13 |
33,152,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R7547:Serpinb6b
|
UTSW |
13 |
33,158,907 (GRCm39) |
missense |
probably benign |
0.05 |
R7732:Serpinb6b
|
UTSW |
13 |
33,152,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R7770:Serpinb6b
|
UTSW |
13 |
33,161,512 (GRCm39) |
missense |
probably benign |
0.05 |
R7802:Serpinb6b
|
UTSW |
13 |
33,155,579 (GRCm39) |
|
|
|
R8814:Serpinb6b
|
UTSW |
13 |
33,162,287 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8966:Serpinb6b
|
UTSW |
13 |
33,162,035 (GRCm39) |
missense |
probably damaging |
1.00 |
R8988:Serpinb6b
|
UTSW |
13 |
33,162,125 (GRCm39) |
missense |
probably benign |
0.45 |
R9037:Serpinb6b
|
UTSW |
13 |
33,161,998 (GRCm39) |
nonsense |
probably null |
|
R9129:Serpinb6b
|
UTSW |
13 |
33,162,139 (GRCm39) |
small deletion |
probably benign |
|
R9377:Serpinb6b
|
UTSW |
13 |
33,152,494 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
R9415:Serpinb6b
|
UTSW |
13 |
33,159,002 (GRCm39) |
missense |
|
|
R9632:Serpinb6b
|
UTSW |
13 |
33,155,532 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Posted On |
2013-12-09 |