Incidental Mutation 'IGL00157:Serpinb9b'
| ID |
1035 |
| 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 # |
IGL00157
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
33211397-33224571 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33219608 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 178
(E178D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006392
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006392]
|
| AlphaFold |
Q9DAV6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006392
AA Change: E178D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000006392
Gene: ENSMUSG00000021403
AA Change: E178D
| Domain | Start | End | E-Value | Type |
|---|
|
SERPIN
|
13 |
377 |
7.86e-164 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220566
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221946
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
A |
G |
7: 43,902,875 (GRCm39) |
V331A |
possibly damaging |
Het |
| Casr |
C |
A |
16: 36,316,172 (GRCm39) |
V633F |
probably damaging |
Het |
| Cblb |
T |
G |
16: 52,003,670 (GRCm39) |
V716G |
probably benign |
Het |
| Cbln2 |
C |
T |
18: 86,734,509 (GRCm39) |
Q156* |
probably null |
Het |
| Cnn1 |
G |
T |
9: 22,010,693 (GRCm39) |
L14F |
possibly damaging |
Het |
| D830013O20Rik |
T |
C |
12: 73,411,021 (GRCm39) |
|
noncoding transcript |
Het |
| Drd1 |
A |
G |
13: 54,207,897 (GRCm39) |
S99P |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,404,707 (GRCm39) |
V486A |
possibly damaging |
Het |
| Galnt7 |
T |
C |
8: 57,993,073 (GRCm39) |
N416S |
probably damaging |
Het |
| Gm10735 |
T |
C |
13: 113,178,018 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
A |
T |
17: 36,476,246 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,876,338 (GRCm39) |
T790A |
probably benign |
Het |
| Klhdc1 |
T |
A |
12: 69,288,782 (GRCm39) |
Y31N |
possibly damaging |
Het |
| Lama1 |
A |
T |
17: 68,122,923 (GRCm39) |
M2769L |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,933,896 (GRCm39) |
|
probably null |
Het |
| Msrb2 |
C |
A |
2: 19,399,152 (GRCm39) |
P172T |
probably damaging |
Het |
| Or8g35 |
A |
G |
9: 39,381,539 (GRCm39) |
V161A |
probably benign |
Het |
| Or8k41 |
T |
C |
2: 86,313,562 (GRCm39) |
S175G |
probably benign |
Het |
| Pcdhb9 |
T |
A |
18: 37,536,332 (GRCm39) |
D775E |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,637,098 (GRCm39) |
|
probably null |
Het |
| Preb |
A |
T |
5: 31,113,308 (GRCm39) |
D375E |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,515,090 (GRCm39) |
I1010T |
probably damaging |
Het |
| Rbp2 |
A |
G |
9: 98,380,950 (GRCm39) |
|
probably null |
Het |
| Septin9 |
A |
G |
11: 117,243,010 (GRCm39) |
T66A |
probably damaging |
Het |
| Shld2 |
A |
G |
14: 33,990,582 (GRCm39) |
V108A |
probably benign |
Het |
| Tg |
A |
G |
15: 66,719,015 (GRCm39) |
Y258C |
probably damaging |
Het |
| Tmprss7 |
T |
C |
16: 45,483,731 (GRCm39) |
R548G |
probably benign |
Het |
| Uba7 |
G |
A |
9: 107,856,310 (GRCm39) |
A536T |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,639 (GRCm39) |
P614S |
probably damaging |
Het |
| Xpc |
A |
G |
6: 91,469,246 (GRCm39) |
|
probably benign |
Het |
| Yrdc |
T |
C |
4: 124,747,754 (GRCm39) |
S86P |
probably damaging |
Het |
| Zbed6 |
G |
T |
1: 133,585,114 (GRCm39) |
A741D |
probably damaging |
Het |
|
| Other mutations in Serpinb9b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Serpinb9b
|
APN |
13 |
33,223,553 (GRCm39) |
missense |
probably benign |
0.17 |
|
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 |
2011-07-12 |
Incidental Mutation