Incidental Mutation 'IGL00518:Serpinb9b'
ID |
4321 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Serpinb9b
|
Ensembl Gene |
ENSMUSG00000021403 |
Gene Name |
serine (or cysteine) peptidase inhibitor, clade B, member 9b |
Synonyms |
R86, ovalbumin, Spi10, 1600019A21Rik, SPI-CI |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00518
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 33223553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 248
(F248L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
AlphaFold |
Q9DAV6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006392
AA Change: F248L
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000006392 Gene: ENSMUSG00000021403 AA Change: F248L
Domain | Start | End | E-Value | Type |
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220566
|
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 |
Adam23 |
T |
C |
1: 63,610,113 (GRCm39) |
V705A |
probably damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,320,536 (GRCm39) |
L905F |
probably damaging |
Het |
Copb2 |
A |
T |
9: 98,464,947 (GRCm39) |
K627N |
possibly damaging |
Het |
Dennd5b |
A |
G |
6: 148,928,828 (GRCm39) |
C782R |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,026,401 (GRCm39) |
|
probably null |
Het |
Esyt1 |
C |
T |
10: 128,357,743 (GRCm39) |
D243N |
probably benign |
Het |
Hectd1 |
A |
G |
12: 51,823,272 (GRCm39) |
|
probably benign |
Het |
Klk1b4 |
T |
C |
7: 43,860,456 (GRCm39) |
|
probably benign |
Het |
Lce1i |
T |
A |
3: 92,684,911 (GRCm39) |
R88S |
unknown |
Het |
Lrrc37a |
G |
T |
11: 103,391,177 (GRCm39) |
P1416Q |
probably benign |
Het |
Mcm6 |
C |
A |
1: 128,272,120 (GRCm39) |
A426S |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,393,244 (GRCm39) |
V3106I |
probably damaging |
Het |
Nkiras1 |
T |
G |
14: 18,278,435 (GRCm38) |
F50V |
probably benign |
Het |
Pik3r6 |
A |
T |
11: 68,425,077 (GRCm39) |
I457F |
probably damaging |
Het |
Rbck1 |
T |
C |
2: 152,160,315 (GRCm39) |
K455E |
probably damaging |
Het |
Ryr2 |
T |
A |
13: 11,848,978 (GRCm39) |
|
probably benign |
Het |
Sox6 |
C |
A |
7: 115,076,441 (GRCm39) |
M733I |
probably benign |
Het |
Supt20 |
T |
C |
3: 54,622,590 (GRCm39) |
S446P |
probably damaging |
Het |
Tmem209 |
A |
G |
6: 30,487,416 (GRCm39) |
M530T |
probably damaging |
Het |
Top2a |
A |
T |
11: 98,909,647 (GRCm39) |
Y150* |
probably null |
Het |
Trmt9b |
C |
T |
8: 36,979,453 (GRCm39) |
T352I |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,733,726 (GRCm39) |
|
probably benign |
Het |
Ubr2 |
A |
G |
17: 47,303,922 (GRCm39) |
Y138H |
probably damaging |
Het |
Utrn |
A |
G |
10: 12,542,587 (GRCm39) |
|
probably benign |
Het |
Zfp354a |
T |
A |
11: 50,961,381 (GRCm39) |
S531T |
probably damaging |
Het |
Zscan4d |
T |
C |
7: 10,896,281 (GRCm39) |
E363G |
probably benign |
Het |
|
Other mutations in Serpinb9b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00157:Serpinb9b
|
APN |
13 |
33,219,608 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01939:Serpinb9b
|
APN |
13 |
33,223,648 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02472:Serpinb9b
|
APN |
13 |
33,223,953 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02632:Serpinb9b
|
APN |
13 |
33,223,806 (GRCm39) |
missense |
probably benign |
0.01 |
R0255:Serpinb9b
|
UTSW |
13 |
33,222,003 (GRCm39) |
missense |
probably benign |
|
R0667:Serpinb9b
|
UTSW |
13 |
33,216,909 (GRCm39) |
nonsense |
probably null |
|
R0699:Serpinb9b
|
UTSW |
13 |
33,217,549 (GRCm39) |
missense |
probably benign |
0.00 |
R0703:Serpinb9b
|
UTSW |
13 |
33,216,964 (GRCm39) |
missense |
probably benign |
0.29 |
R1605:Serpinb9b
|
UTSW |
13 |
33,222,112 (GRCm39) |
critical splice donor site |
probably null |
|
R1623:Serpinb9b
|
UTSW |
13 |
33,213,548 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1815:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R1920:Serpinb9b
|
UTSW |
13 |
33,223,531 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1987:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
R1988:Serpinb9b
|
UTSW |
13 |
33,213,542 (GRCm39) |
missense |
probably benign |
0.07 |
R3035:Serpinb9b
|
UTSW |
13 |
33,213,529 (GRCm39) |
missense |
possibly damaging |
0.81 |
R3683:Serpinb9b
|
UTSW |
13 |
33,213,581 (GRCm39) |
missense |
probably damaging |
0.98 |
R3758:Serpinb9b
|
UTSW |
13 |
33,219,571 (GRCm39) |
missense |
probably damaging |
1.00 |
R4677:Serpinb9b
|
UTSW |
13 |
33,223,806 (GRCm39) |
missense |
probably damaging |
0.97 |
R5412:Serpinb9b
|
UTSW |
13 |
33,213,496 (GRCm39) |
missense |
probably benign |
0.00 |
R5481:Serpinb9b
|
UTSW |
13 |
33,222,076 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5672:Serpinb9b
|
UTSW |
13 |
33,223,582 (GRCm39) |
missense |
probably benign |
0.01 |
R5957:Serpinb9b
|
UTSW |
13 |
33,223,831 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6797:Serpinb9b
|
UTSW |
13 |
33,213,467 (GRCm39) |
missense |
possibly damaging |
0.60 |
R7586:Serpinb9b
|
UTSW |
13 |
33,223,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R8115:Serpinb9b
|
UTSW |
13 |
33,219,531 (GRCm39) |
missense |
probably null |
0.94 |
R8309:Serpinb9b
|
UTSW |
13 |
33,223,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R8529:Serpinb9b
|
UTSW |
13 |
33,223,543 (GRCm39) |
missense |
probably benign |
0.04 |
R8802:Serpinb9b
|
UTSW |
13 |
33,213,587 (GRCm39) |
missense |
probably benign |
|
R8810:Serpinb9b
|
UTSW |
13 |
33,213,452 (GRCm39) |
missense |
possibly damaging |
0.83 |
R9020:Serpinb9b
|
UTSW |
13 |
33,223,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Serpinb9b
|
UTSW |
13 |
33,219,523 (GRCm39) |
missense |
probably benign |
|
R9424:Serpinb9b
|
UTSW |
13 |
33,213,544 (GRCm39) |
missense |
probably damaging |
0.99 |
X0019:Serpinb9b
|
UTSW |
13 |
33,219,514 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2012-04-20 |