Incidental Mutation 'IGL01917:Serpinb3d'
ID |
179975 |
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 # |
IGL01917
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
107005893-107011210 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107007411 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 192
(T192S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000023861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023861]
|
AlphaFold |
Q6UKZ0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000023861
AA Change: T192S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000023861 Gene: ENSMUSG00000058017 AA Change: T192S
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
A |
T |
13: 23,607,959 (GRCm39) |
M15K |
unknown |
Het |
Adal |
A |
G |
2: 120,973,035 (GRCm39) |
S31G |
possibly damaging |
Het |
C2cd5 |
T |
C |
6: 143,018,322 (GRCm39) |
Y300C |
probably benign |
Het |
Chia1 |
T |
A |
3: 106,035,536 (GRCm39) |
V184E |
probably damaging |
Het |
Fat4 |
T |
A |
3: 38,943,879 (GRCm39) |
V924D |
possibly damaging |
Het |
Fstl5 |
A |
T |
3: 76,615,153 (GRCm39) |
H738L |
probably damaging |
Het |
Gimap4 |
T |
C |
6: 48,667,854 (GRCm39) |
M75T |
probably benign |
Het |
Gm10238 |
A |
T |
15: 75,109,561 (GRCm39) |
|
noncoding transcript |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
Gsdmc |
A |
G |
15: 63,650,434 (GRCm39) |
Y307H |
probably benign |
Het |
Iqub |
A |
G |
6: 24,479,318 (GRCm39) |
L408P |
probably damaging |
Het |
Lbx1 |
T |
A |
19: 45,222,652 (GRCm39) |
K124* |
probably null |
Het |
Naip2 |
C |
A |
13: 100,298,591 (GRCm39) |
V482L |
probably benign |
Het |
Or52e19 |
T |
A |
7: 102,959,564 (GRCm39) |
L212* |
probably null |
Het |
Pdcd11 |
C |
A |
19: 47,089,604 (GRCm39) |
Q325K |
possibly damaging |
Het |
Pik3c3 |
T |
A |
18: 30,407,499 (GRCm39) |
S82R |
probably damaging |
Het |
Pramel11 |
T |
A |
4: 143,624,284 (GRCm39) |
E71V |
probably benign |
Het |
Prickle1 |
T |
C |
15: 93,401,408 (GRCm39) |
K359E |
probably damaging |
Het |
Ptprj |
A |
G |
2: 90,300,093 (GRCm39) |
V236A |
probably damaging |
Het |
Usp31 |
T |
C |
7: 121,278,708 (GRCm39) |
N219S |
probably benign |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Serpinb3d |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01582:Serpinb3d
|
APN |
1 |
107,007,396 (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 |
2014-05-07 |