Incidental Mutation 'IGL01582:Serpinb3d'
ID |
91379 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb3d
|
Ensembl Gene |
ENSMUSG00000058017 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B (ovalbumin), member 3D |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01582
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
107005893-107011210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107007396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 197
(F197L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023861]
|
AlphaFold |
Q6UKZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023861
AA Change: F197L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000023861 Gene: ENSMUSG00000058017 AA Change: F197L
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
387 |
2.44e-169 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aurkb |
G |
A |
11: 68,939,605 (GRCm39) |
V201I |
probably damaging |
Het |
Csmd2 |
G |
T |
4: 128,457,098 (GRCm39) |
E212* |
probably null |
Het |
Dsg1a |
G |
T |
18: 20,461,905 (GRCm39) |
K335N |
probably null |
Het |
Epn2 |
A |
G |
11: 61,412,695 (GRCm39) |
S430P |
probably benign |
Het |
Ezh2 |
A |
T |
6: 47,532,989 (GRCm39) |
Y144* |
probably null |
Het |
Fcgbp |
G |
T |
7: 27,793,067 (GRCm39) |
D1024Y |
probably benign |
Het |
Gramd2b |
A |
G |
18: 56,618,488 (GRCm39) |
E232G |
probably damaging |
Het |
Inf2 |
A |
G |
12: 112,576,993 (GRCm39) |
K989R |
unknown |
Het |
Lrpprc |
G |
A |
17: 85,061,971 (GRCm39) |
A577V |
probably null |
Het |
Mansc1 |
T |
A |
6: 134,598,836 (GRCm39) |
N27I |
possibly damaging |
Het |
Nr1i3 |
A |
T |
1: 171,042,541 (GRCm39) |
I56F |
possibly damaging |
Het |
Ntpcr |
T |
C |
8: 126,471,981 (GRCm39) |
S64P |
probably benign |
Het |
Or52e19b |
A |
T |
7: 103,032,806 (GRCm39) |
Y134* |
probably null |
Het |
Ppwd1 |
A |
G |
13: 104,350,212 (GRCm39) |
I391T |
probably benign |
Het |
Siglecf |
A |
G |
7: 43,008,145 (GRCm39) |
N553D |
possibly damaging |
Het |
Slc2a2 |
A |
G |
3: 28,762,637 (GRCm39) |
D60G |
probably benign |
Het |
Speer1j |
A |
G |
5: 11,555,240 (GRCm39) |
T70A |
probably benign |
Het |
Spsb4 |
T |
G |
9: 96,878,143 (GRCm39) |
D60A |
probably damaging |
Het |
Tnnt1 |
T |
C |
7: 4,512,982 (GRCm39) |
E100G |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,658,654 (GRCm39) |
M938T |
probably benign |
Het |
|
Other mutations in Serpinb3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01917:Serpinb3d
|
APN |
1 |
107,007,411 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02732:Serpinb3d
|
APN |
1 |
107,010,526 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02988:Serpinb3d
|
UTSW |
1 |
107,006,266 (GRCm39) |
missense |
probably benign |
|
R0540:Serpinb3d
|
UTSW |
1 |
107,006,962 (GRCm39) |
missense |
probably benign |
0.01 |
R0594:Serpinb3d
|
UTSW |
1 |
107,007,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R1666:Serpinb3d
|
UTSW |
1 |
107,008,481 (GRCm39) |
missense |
probably benign |
0.18 |
R1668:Serpinb3d
|
UTSW |
1 |
107,008,481 (GRCm39) |
missense |
probably benign |
0.18 |
R1905:Serpinb3d
|
UTSW |
1 |
107,007,014 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1994:Serpinb3d
|
UTSW |
1 |
107,008,518 (GRCm39) |
missense |
possibly damaging |
0.52 |
R2021:Serpinb3d
|
UTSW |
1 |
107,006,182 (GRCm39) |
missense |
probably benign |
0.05 |
R2022:Serpinb3d
|
UTSW |
1 |
107,006,182 (GRCm39) |
missense |
probably benign |
0.05 |
R3760:Serpinb3d
|
UTSW |
1 |
107,009,304 (GRCm39) |
splice site |
probably benign |
|
R4118:Serpinb3d
|
UTSW |
1 |
107,006,960 (GRCm39) |
missense |
possibly damaging |
0.58 |
R4496:Serpinb3d
|
UTSW |
1 |
107,007,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R4770:Serpinb3d
|
UTSW |
1 |
107,006,008 (GRCm39) |
missense |
probably damaging |
1.00 |
R4793:Serpinb3d
|
UTSW |
1 |
107,005,951 (GRCm39) |
missense |
probably damaging |
1.00 |
R5174:Serpinb3d
|
UTSW |
1 |
107,006,228 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5434:Serpinb3d
|
UTSW |
1 |
107,006,263 (GRCm39) |
missense |
probably benign |
0.02 |
R5813:Serpinb3d
|
UTSW |
1 |
107,007,027 (GRCm39) |
missense |
probably benign |
0.14 |
R5820:Serpinb3d
|
UTSW |
1 |
107,006,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R5935:Serpinb3d
|
UTSW |
1 |
107,011,105 (GRCm39) |
missense |
probably benign |
0.00 |
R6056:Serpinb3d
|
UTSW |
1 |
107,007,452 (GRCm39) |
missense |
probably damaging |
1.00 |
R6092:Serpinb3d
|
UTSW |
1 |
107,006,989 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Serpinb3d
|
UTSW |
1 |
107,006,237 (GRCm39) |
missense |
probably damaging |
0.98 |
R6247:Serpinb3d
|
UTSW |
1 |
107,010,490 (GRCm39) |
missense |
probably benign |
0.01 |
R6369:Serpinb3d
|
UTSW |
1 |
107,008,483 (GRCm39) |
missense |
probably benign |
0.00 |
R6476:Serpinb3d
|
UTSW |
1 |
107,011,071 (GRCm39) |
missense |
probably benign |
0.09 |
R7178:Serpinb3d
|
UTSW |
1 |
107,008,506 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7743:Serpinb3d
|
UTSW |
1 |
107,007,088 (GRCm39) |
missense |
probably damaging |
0.99 |
R7765:Serpinb3d
|
UTSW |
1 |
107,007,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R8371:Serpinb3d
|
UTSW |
1 |
107,008,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-09 |